Variant report

Variant	nsv1000419
Chromosome Location	chr2:48766957-48795327
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:290)
CpG islands
(count:183)
Chromatin interactive
region (count:15)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:290 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:48793805-48793997	HepG2	liver:	n/a	n/a
2	ARID3A	chr2:48772426-48772615	K562	blood:	n/a	n/a
3	ARID3A	chr2:48772588-48772694	HepG2	liver:	n/a	n/a
4	ATF3	chr2:48772405-48772657	K562	blood:	n/a	n/a
5	BHLHE40	chr2:48772416-48772721	K562	blood:	n/a	n/a
6	CBX3	chr2:48772430-48772704	K562	blood:	n/a	n/a
7	CBX3	chr2:48772283-48772746	K562	blood:	n/a	n/a
8	CHD2	chr2:48772558-48772692	HepG2	liver:	n/a	n/a
9	CHD2	chr2:48772547-48772718	K562	blood:	n/a	n/a
10	CTCF	chr2:48793761-48793979	K562	blood:	n/a	n/a
11	CTCF	chr2:48772419-48772763	K562	blood:	n/a	n/a
12	CTCF	chr2:48793750-48794007	HepG2	liver:	n/a	n/a
13	CTCF	chr2:48772540-48772690	AG09319	gingival:	n/a	n/a
14	CTCF	chr2:48793696-48793942	K562	blood:	n/a	n/a
15	CTCF	chr2:48793720-48793870	GM12869	blood:	n/a	n/a
16	CTCF	chr2:48772560-48772710	NHLF	lung:	n/a	n/a
17	CTCF	chr2:48793639-48794073	MCF-7	breast:	n/a	n/a
18	CTCF	chr2:48793790-48793963	MCF-7	breast:	n/a	n/a
19	CTCF	chr2:48793760-48793910	HBMEC	blood vessel:	n/a	n/a
20	CTCF	chr2:48793800-48793950	HUVEC	blood vessel:	n/a	n/a
21	CTCF	chr2:48772500-48772650	AG09309	skin:	n/a	n/a
22	CTCF	chr2:48772440-48772590	NHDF-neo	bronchial:	n/a	n/a
23	CTCF	chr2:48772567-48772624	NHEK	skin:	n/a	n/a
24	CTCF	chr2:48772520-48772670	HEK293	kidney:	n/a	n/a
25	CTCF	chr2:48772500-48772650	AG04449	skin:	n/a	n/a
26	CTCF	chr2:48793800-48793950	AG09319	gingival:	n/a	n/a
27	CTCF	chr2:48772520-48772670	HA-sp	spinal cord:	n/a	n/a
28	CTCF	chr2:48767820-48767970	WERI-Rb-1	eye:	n/a	n/a
29	CTCF	chr2:48793800-48793950	HepG2	liver:	n/a	n/a
30	CTCF	chr2:48793674-48794044	HepG2	liver:	n/a	n/a
31	CTCF	chr2:48793800-48793950	BE2_C	brain:	n/a	n/a
32	CTCF	chr2:48793840-48793990	GM06990	blood:	n/a	n/a
33	CTCF	chr2:48793780-48793930	HMEC	breast:	n/a	n/a
34	CTCF	chr2:48793760-48793910	NHEK	skin:	n/a	n/a
35	CTCF	chr2:48793701-48794069	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr2:48772364-48772776	H1-hESC	embryonic stem cell:	n/a	n/a
37	CTCF	chr2:48793840-48793990	HAc	cerebellar:	n/a	n/a
38	CTCF	chr2:48793780-48793930	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr2:48793780-48793930	HFF-Myc	foreskin:	n/a	n/a
40	CTCF	chr2:48793800-48793950	HPF	lung:	n/a	n/a
41	CTCF	chr2:48772460-48772610	HFF-Myc	foreskin:	n/a	n/a
42	CTCF	chr2:48793820-48793970	HAc	cerebellar:	n/a	n/a
43	CTCF	chr2:48793800-48793950	RPTEC	kidney:	n/a	n/a
44	CTCF	chr2:48793860-48794010	GM12864	blood:	n/a	n/a
45	CTCF	chr2:48793780-48793930	BJ	skin:	n/a	n/a
46	CTCF	chr2:48793781-48793985	ProgFib	skin:	n/a	n/a
47	CTCF	chr2:48793649-48793961	H1-hESC	embryonic stem cell:	n/a	n/a
48	CTCF	chr2:48772580-48772730	HRPEpiC	eye:	n/a	n/a
49	CTCF	chr2:48772520-48772670	Caco-2	colon:	n/a	n/a
50	CTCF	chr2:48772560-48772710	HCPEpiC	choroid plexus:	n/a	n/a

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:48795067-48795117	Jurkat	blood:	n/a
2	chr2:48773405-48773455	GM12878	blood:	n/a
3	chr2:48773405-48773455	IMR90	lung:	fetal
4	chr2:48787750-48787800	U87	brain:	n/a
5	chr2:48787750-48787800	CMK	blood:	n/a
6	chr2:48795067-48795117	Hela-S3	cervix:	n/a
7	chr2:48773405-48773455	AG09309	skin:	n/a
8	chr2:48787750-48787800	SK-N-MC	brain:	n/a
9	chr2:48795067-48795117	HRPEpiC	eye:	n/a
10	chr2:48773405-48773455	Hepatocyte	liver:	n/a
11	chr2:48787750-48787800	SKMC	muscle:	n/a
12	chr2:48795067-48795117	GM06990	blood:	n/a
13	chr2:48787750-48787800	HCF	heart:	n/a
14	chr2:48795067-48795117	CMK	blood:	n/a
15	chr2:48795067-48795117	HIPEpiC	eye:	n/a
16	chr2:48795067-48795117	A549	lung:	n/a
17	chr2:48773405-48773455	HCF	heart:	n/a
18	chr2:48787750-48787800	A549	lung:	n/a
19	chr2:48795067-48795117	SK-N-SH	brain:	n/a
20	chr2:48773405-48773455	GM06990	blood:	n/a
21	chr2:48795067-48795117	IMR90	lung:	fetal
22	chr2:48795067-48795117	SK-N-SH_RA	brain:	n/a
23	chr2:48773405-48773455	Jurkat	blood:	n/a
24	chr2:48773405-48773455	HL-60	blood:	n/a
25	chr2:48773405-48773455	AG10803	skin:	n/a
26	chr2:48787750-48787800	AoSMC	blood vessel:	n/a
27	chr2:48795067-48795117	PANC-1	pancreas:	n/a
28	chr2:48773405-48773455	ECC-1	luminal epithelium:	n/a
29	chr2:48787750-48787800	RPTEC	kidney:	n/a
30	chr2:48795067-48795117	HL-60	blood:	n/a
31	chr2:48773405-48773455	Caco-2	colon:	n/a
32	chr2:48773405-48773455	CMK	blood:	n/a
33	chr2:48795067-48795117	HMEC	breast:	n/a
34	chr2:48795067-48795117	HRCEpiC	kidney:	n/a
35	chr2:48795067-48795117	MCF-7	breast:	n/a
36	chr2:48773405-48773455	GM12892	blood:	n/a
37	chr2:48787750-48787800	HCT-116	colon:	n/a
38	chr2:48795067-48795117	AG09319	gingival:	n/a
39	chr2:48787750-48787800	HCM	heart:	n/a
40	chr2:48795067-48795117	ECC-1	luminal epithelium:	n/a
41	chr2:48787750-48787800	HRPEpiC	eye:	n/a
42	chr2:48795067-48795117	HNPCEpiC	eye:	n/a
43	chr2:48795067-48795117	BJ	skin:	n/a
44	chr2:48795067-48795117	H1-hESC	embryonic stem cell:	embryo
45	chr2:48795067-48795117	PFSK-1	brain:	n/a
46	chr2:48795067-48795117	HepG2	liver:	n/a
47	chr2:48773405-48773455	NT2-D1	testis:	n/a
48	chr2:48795067-48795117	GM12878	blood:	n/a
49	chr2:48773405-48773455	HCM	heart:	n/a
50	chr2:48795067-48795117	AG09309	skin:	n/a

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:48773207..48775322-chr2:48777456..48778973,2	K562	blood:
2	chr2:48773207..48775322-chr2:48777456..48778973,2	K562	blood:
3	chr2:48793739..48794249-chr2:48815968..48816646,2	MCF-7	breast:
4	chr2:48772065..48772805-chr2:50719351..50720113,2	K562	blood:
5	chr2:48773822..48775873-chr2:48777456..48780403,2	K562	blood:
6	chr2:48773822..48775873-chr2:48777456..48780403,2	K562	blood:
7	chr2:48676760..48679121-chr2:48771521..48774088,2	K562	blood:
8	chr2:48788958..48790786-chr2:48792304..48795204,2	K562	blood:
9	chr2:48793447..48794436-chr2:48816095..48816687,2	K562	blood:
10	chr2:48767423..48771041-chr2:48771579..48775293,4	K562	blood:
11	chr2:48793384..48794350-chr2:48816086..48816820,5	MCF-7	breast:
12	chr2:48767423..48771041-chr2:48771579..48775293,4	K562	blood:
13	chr2:48788958..48790786-chr2:48792304..48795204,2	K562	blood:
14	chr2:48761161..48764089-chr2:48767205..48768713,2	K562	blood:
15	chr2:48772382..48773067-chr2:48815926..48816979,3	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-STON1-1	chr2:48771035-48771088	NONHSAT070624
2	lnc-STON1-1	chr2:48786942-48787278	NONHSAT070624
3	lnc-STON1-1	chr2:48774439-48775286	NONHSAT070624

No data

Variant related genes	Relation type
STON1-GTF2A1L	TF binding region
STON1-GTF2A1L	CpG island

Extended variants
information (count: 1245 )
Associated
traits (count: 93 )

Variant overlapped rSNPs/rCNVs (count:1245 , 50 per page) page: 1 2 3 4 5 6 7 ... 25

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs60578339	chr2:48766961-48766962	Weak transcription Strong transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs80197649	chr2:48766968-48766969	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs78862922	chr2:48766979-48766980	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs112272873	chr2:48767035-48767036	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs577106238	chr2:48767052-48767053	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569180496	chr2:48767126-48767127	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs571773458	chr2:48767171-48767172	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs533040785	chr2:48767205-48767206	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
9	rs113901944	chr2:48767212-48767213	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
10	rs566151383	chr2:48767215-48767216	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
11	rs533510532	chr2:48767240-48767241	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
12	rs554224165	chr2:48767242-48767243	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
13	rs17037363	chr2:48767258-48767259	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs138102521	chr2:48767262-48767263	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
15	rs74806645	chr2:48767268-48767269	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
16	rs556469720	chr2:48767303-48767304	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
17	rs78269052	chr2:48767348-48767349	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
18	rs545697217	chr2:48767378-48767379	Weak transcription Enhancers Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
19	rs543213945	chr2:48767402-48767403	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs554481221	chr2:48767416-48767417	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs572492027	chr2:48767420-48767421	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs574703956	chr2:48767431-48767432	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs191735337	chr2:48767452-48767453	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs561438468	chr2:48767516-48767517	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs531709793	chr2:48767530-48767531	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs544437644	chr2:48767547-48767548	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs111325803	chr2:48767553-48767554	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs368268912	chr2:48767563-48767564	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs562520506	chr2:48767578-48767579	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532933036	chr2:48767582-48767583	Enhancers Weak transcription Strong transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs372495641	chr2:48767613-48767614	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
32	rs184323935	chr2:48767629-48767630	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
33	rs578226390	chr2:48767644-48767645	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
34	rs373317931	chr2:48767713-48767714	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
35	rs559975987	chr2:48767740-48767741	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
36	rs555941143	chr2:48767741-48767742	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
37	rs188372167	chr2:48767753-48767754	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
38	rs548696823	chr2:48767761-48767762	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
39	rs116378740	chr2:48767776-48767777	Enhancers Weak transcription Strong transcription Flanking Active TSS	n/a	n/a	Overlapped CNVs	n/a
40	rs537530456	chr2:48767828-48767829	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs375354491	chr2:48767924-48767925	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs143636480	chr2:48767935-48767936	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs74899837	chr2:48767942-48767943	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs575253033	chr2:48767960-48767961	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs193159075	chr2:48767987-48767988	Weak transcription Enhancers Strong transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs185405827	chr2:48768020-48768021	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs536692580	chr2:48768035-48768036	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs190702076	chr2:48768106-48768107	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs576507642	chr2:48768126-48768127	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs543573951	chr2:48768134-48768135	Weak transcription Strong transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:93)

Disease	PMID	Source
Medulloblastoma	21979893	CNVD
Lynch syndrome	18415027	CNVD
Basal cell lymphoma	16317097	CNVD
Diffuse large b-cell lymphoma	16317097	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Ovarian neoplasms	16753589	CNVD
Glioblastoma multiforme	17387387	CNVD
Neuroblastoma	17533364	CNVD
Neuroblastoma	18923191	CNVD
Endometrial cancer	22040021	CNVD
Adrenal tumor	17535989	CNVD
Breast cancer	21264507	CNVD
Basal cell lymphoma	17053054	CNVD
Medulloblastoma	17522785	CNVD
Cancer	23418310	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
lymphocytic leukemia	21291569	CNVD
Prostate cancer	18632612	CNVD
Bladder cancer	21909424	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Leukemia	18628472	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Breast cancer	21785460	CNVD
Lung cancer	18438408	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Neuroblastoma	21508638	CNVD
Neurodevelopmental disorder	22521361	CNVD
small cell lung cancer	20016488	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
Colorectal cancer	16272173	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Williams Syndrome	20824207	CNVD
Breast cancer	16272173	CNVD
Lung cancer	17297452	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Ovarian cancer	21720365	CNVD
abnormal development	18461090	CNVD
Breast cancer	21364760	CNVD
Schizophrenia	20433910	CNVD
Autism	21701786	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Austim spectrum disorder	21302340	CNVD
Schizophrenia	20587603	CNVD
Schizophrenia	20553308	CNVD
Autism	22241247	CNVD
Myelofibrosis	22110671	CNVD
Lung adenocarcinoma	17086460	CNVD
Retinoblastoma	22278416	CNVD
Cancer	21183584	CNVD
Breast cancer	16397240	CNVD
Acute lymphoblastic leukemia	18768390	CNVD
Mental retardation	19521722	CNVD
Schizophrenia	18990708	CNVD
Schizophrenia	18940311	CNVD
Schizophrenia	19348701	CNVD
Schizophrenia	18945720	CNVD
Schizophrenia	19571808	CNVD
Prostate cancer	16573809	CNVD
Neuroticism	17667963	CNVD
Schizophrenia	19443537	CNVD
Schizophrenia	19546859	CNVD
Autism	17322880	CNVD
Lung cancer	17086460	CNVD
Chronic lymphocytic leukemia	17053054	CNVD
Hereditary non-polyposis colorectal cancer	19566914	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Breast cancer	22522925	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Melanoma	20877625	CNVD
Breast cancer	20668451	CNVD
Cancer	20668451	CNVD
Lung cancer	20668451	CNVD
Ovarian cancer	20668451	CNVD
Pancreas cancer	20668451	CNVD
Prostate cancer	20668451	CNVD

Chromatin state (count:427 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:48758800-48769000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr2:48758800-48772400	Weak transcription	Fetal Muscle Trunk	muscle
3	chr2:48759000-48772600	Weak transcription	Fetal Muscle Leg	muscle
4	chr2:48759000-48775200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr2:48759000-48787000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr2:48759000-48787400	Weak transcription	Psoas Muscle	Psoas
7	chr2:48759000-48827600	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr2:48759200-48767000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:48759200-48793200	Weak transcription	Fetal Lung	lung
10	chr2:48759400-48767000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr2:48759400-48775200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr2:48760000-48770800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr2:48760000-48771000	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr2:48760000-48772000	Weak transcription	Lung	lung
15	chr2:48760000-48772400	Weak transcription	Right Atrium	heart
16	chr2:48760200-48767000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr2:48760200-48767000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr2:48760400-48767400	Weak transcription	Ovary	ovary
19	chr2:48760400-48772800	Weak transcription	Left Ventricle	heart
20	chr2:48762000-48767000	Weak transcription	Placenta	Placenta
21	chr2:48762200-48767600	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:48762400-48767400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:48762600-48769000	Weak transcription	Colon Smooth Muscle	Colon
24	chr2:48762600-48775000	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr2:48762800-48767000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:48763400-48769000	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:48764800-48768000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr2:48765200-48767200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr2:48765600-48767200	Weak transcription	HUES64 Cell Line	embryonic stem cell
30	chr2:48766000-48768600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:48766200-48767200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr2:48766200-48769000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:48766800-48767800	Strong transcription	Fetal Stomach	stomach
34	chr2:48766800-48779600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr2:48767000-48767200	Enhancers	Aorta	Aorta
36	chr2:48767000-48767400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:48767000-48767400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:48767000-48768000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr2:48767000-48768000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr2:48767000-48768000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr2:48767000-48768000	Enhancers	Placenta	Placenta
42	chr2:48767200-48767400	Enhancers	HUES64 Cell Line	embryonic stem cell
43	chr2:48767200-48767400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr2:48767200-48767800	Enhancers	Rectal Smooth Muscle	rectum
45	chr2:48767200-48772600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr2:48767200-48807800	Weak transcription	Aorta	Aorta
47	chr2:48767400-48767600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr2:48767400-48767600	Enhancers	K562	blood
49	chr2:48767400-48767800	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr2:48767400-48768000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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