Variant report

Variant	esv1823577
Chromosome Location	chr2:76811778-76859554
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:314)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:314 , 50 per page) page: 1 2 3 4 5 6 7

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:76826892-76827267	HepG2	liver:	n/a	n/a
2	BACH1	chr2:76826863-76827150	H1-hESC	embryonic stem cell:	n/a	n/a
3	BATF	chr2:76826886-76827145	GM12878	blood:	n/a	n/a
4	BHLHE40	chr2:76826921-76827181	K562	blood:	n/a	n/a
5	BHLHE40	chr2:76826935-76827215	GM12878	blood:	n/a	n/a
6	BRCA1	chr2:76826858-76827249	H1-hESC	embryonic stem cell:	n/a	n/a
7	CEBPB	chr2:76826891-76827167	H1-hESC	embryonic stem cell:	n/a	n/a
8	CHD2	chr2:76826886-76827202	H1-hESC	embryonic stem cell:	n/a	n/a
9	CREB1	chr2:76856448-76856731	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr2:76827020-76827170	HVMF	connective:	n/a	n/a
11	CTCF	chr2:76826980-76827130	GM12865	blood:	n/a	n/a
12	CTCF	chr2:76826980-76827130	GM12878	blood:	n/a	n/a
13	CTCF	chr2:76826980-76827130	K562	blood:	n/a	n/a
14	CTCF	chr2:76826980-76827130	GM06990	blood:	n/a	n/a
15	CTCF	chr2:76826920-76827070	BE2_C	brain:	n/a	n/a
16	CTCF	chr2:76827320-76827470	GM12864	blood:	n/a	n/a
17	CTCF	chr2:76826887-76827204	LNCaP	prostate:	n/a	n/a
18	CTCF	chr2:76826980-76827130	Caco-2	colon:	n/a	n/a
19	CTCF	chr2:76826925-76827140	NHEK	skin:	n/a	n/a
20	CTCF	chr2:76826940-76827090	HCM	heart:	n/a	n/a
21	CTCF	chr2:76826946-76827150	ProgFib	skin:	n/a	n/a
22	CTCF	chr2:76827040-76827190	AG09319	gingival:	n/a	n/a
23	CTCF	chr2:76826980-76827130	HFF-Myc	foreskin:	n/a	n/a
24	CTCF	chr2:76826888-76827197	LNCaP	prostate:	n/a	n/a
25	CTCF	chr2:76826980-76827130	GM12871	blood:	n/a	n/a
26	CTCF	chr2:76826923-76827142	Fibrobl	skin:	n/a	n/a
27	CTCF	chr2:76826980-76827130	GM12864	blood:	n/a	n/a
28	CTCF	chr2:76827000-76827150	HPF	lung:	n/a	n/a
29	CTCF	chr2:76826828-76827196	T-47D	breast:	n/a	n/a
30	CTCF	chr2:76827040-76827190	RPTEC	kidney:	n/a	n/a
31	CTCF	chr2:76826910-76827170	A549	lung:	n/a	n/a
32	CTCF	chr2:76826940-76827090	GM12867	blood:	n/a	n/a
33	CTCF	chr2:76827040-76827190	AG04450	lung:	n/a	n/a
34	CTCF	chr2:76826904-76827218	K562	blood:	n/a	n/a
35	CTCF	chr2:76826869-76827175	HepG2	liver:	n/a	n/a
36	CTCF	chr2:76826960-76827110	GM12874	blood:	n/a	n/a
37	CTCF	chr2:76845636-76845744	Lung_OC	lung:	n/a	n/a
38	CTCF	chr2:76826900-76827050	HAc	cerebellar:	n/a	n/a
39	CTCF	chr2:76827000-76827150	NHEK	skin:	n/a	n/a
40	CTCF	chr2:76826980-76827130	HEK293	kidney:	n/a	n/a
41	CTCF	chr2:76826940-76827090	WERI-Rb-1	eye:	n/a	n/a
42	CTCF	chr2:76826960-76827110	HRE	kidney:	n/a	n/a
43	CTCF	chr2:76826980-76827130	GM12870	blood:	n/a	n/a
44	CTCF	chr2:76851572-76851767	LNCaP	prostate:	n/a	n/a
45	CTCF	chr2:76826960-76827110	GM12865	blood:	n/a	n/a
46	CTCF	chr2:76826960-76827110	HCPEpiC	choroid plexus:	n/a	n/a
47	CTCF	chr2:76826640-76826790	GM12865	blood:	n/a	n/a
48	CTCF	chr2:76826917-76827207	Spleen_OC	spleen:	n/a	n/a
49	CTCF	chr2:76826810-76827289	K562	blood:	n/a	n/a
50	CTCF	chr2:76827000-76827150	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:76839078-76839128	HRPEpiC	eye:	n/a
2	chr2:76839078-76839128	AG09309	skin:	n/a
3	chr2:76839078-76839128	K562	blood:	n/a
4	chr2:76839078-76839128	HMEC	breast:	n/a
5	chr2:76839078-76839128	GM12892	blood:	n/a
6	chr2:76839078-76839128	MCF10A-Er-Src	breast:	n/a
7	chr2:76839078-76839128	PFSK-1	brain:	n/a
8	chr2:76839078-76839128	IMR90	lung:	fetal
9	chr2:76839078-76839128	Caco-2	colon:	n/a
10	chr2:76839078-76839128	HCPEpiC	choroid plexus:	n/a
11	chr2:76839078-76839128	HPAEpiC	pulmonary alveolar:	n/a
12	chr2:76839078-76839128	HIPEpiC	eye:	n/a
13	chr2:76839078-76839128	ProgFib	skin:	n/a
14	chr2:76839078-76839128	HRCEpiC	kidney:	n/a
15	chr2:76839078-76839128	Hela-S3	cervix:	n/a
16	chr2:76839078-76839128	H1-hESC	embryonic stem cell:	embryo
17	chr2:76839078-76839128	BJ	skin:	n/a
18	chr2:76839078-76839128	NHDF-neo	bronchial:	n/a
19	chr2:76839078-76839128	PrEC	prostate:	n/a
20	chr2:76839078-76839128	SK-N-MC	brain:	n/a
21	chr2:76839078-76839128	U87	brain:	n/a
22	chr2:76839078-76839128	AG04449	skin:	fetal
23	chr2:76839078-76839128	SAEC	small airway:	n/a
24	chr2:76839078-76839128	SKMC	muscle:	n/a
25	chr2:76839078-76839128	T-47D	breast:	n/a
26	chr2:76839078-76839128	HAEpiC	amniotic membrane:	n/a
27	chr2:76839078-76839128	GM12891	blood:	n/a
28	chr2:76839078-76839128	HCT-116	colon:	n/a
29	chr2:76839078-76839128	HL-60	blood:	n/a
30	chr2:76839078-76839128	Jurkat	blood:	n/a
31	chr2:76839078-76839128	HEEpiC	esophagus:	n/a
32	chr2:76839078-76839128	CMK	blood:	n/a
33	chr2:76839078-76839128	SK-N-SH	brain:	n/a
34	chr2:76839078-76839128	ovcar-3	ovarian:	n/a
35	chr2:76839078-76839128	HRE	kidney:	n/a
36	chr2:76839078-76839128	BE2_C	brain:	n/a
37	chr2:76839078-76839128	MCF-7	breast:	n/a
38	chr2:76839078-76839128	HCF	heart:	n/a
39	chr2:76839078-76839128	GM12878	blood:	n/a
40	chr2:76839078-76839128	AG10803	skin:	n/a
41	chr2:76839078-76839128	AoSMC	blood vessel:	n/a
42	chr2:76839078-76839128	GM06990	blood:	n/a
43	chr2:76839078-76839128	NT2-D1	testis:	n/a
44	chr2:76839078-76839128	HEK293	kidney:	embryo
45	chr2:76839078-76839128	HNPCEpiC	eye:	n/a
46	chr2:76839078-76839128	AG04450	lung:	fetal
47	chr2:76839078-76839128	NB4	blood:	n/a
48	chr2:76839078-76839128	Hepatocyte	liver:	n/a
49	chr2:76839078-76839128	ECC-1	luminal epithelium:	n/a
50	chr2:76839078-76839128	HepG2	liver:	n/a

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:76837968..76839669-chr2:76845469..76848246,2	MCF-7	breast:
2	chr2:76424788..76425711-chr2:76826568..76827565,9	MCF-7	breast:
3	chr2:76837968..76839669-chr2:76845469..76848246,2	MCF-7	breast:
4	chr2:75957100..75957649-chr2:76826627..76827405,2	MCF-7	breast:
5	chr2:76014514..76015446-chr2:76826422..76827585,4	MCF-7	breast:
6	chr2:76123697..76124563-chr2:76826531..76827162,2	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-MRPL19-18	chr2:76814741-76814827	NONHSAT071820
2	lnc-LRRTM4-5	chr2:76822539-76822804	NONHSAT071821

No data

Variant related genes	Relation type
RN7SKP164	TF binding region
RN7SKP164	CpG island

Extended variants
information (count: 2154 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:2154 , 50 per page) page: 1 2 3 4 5 6 7 ... 44

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs10203812	chr2:76811778-76811779	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
2	rs150334220	chr2:76811811-76811812	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs540273050	chr2:76811812-76811813	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs561519181	chr2:76811817-76811818	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs138008822	chr2:76811827-76811828	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs72913709	chr2:76811838-76811839	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs141987573	chr2:76811852-76811853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs550390626	chr2:76811855-76811856	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs114757041	chr2:76811860-76811861	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs536347739	chr2:76811903-76811904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs528780414	chr2:76811906-76811907	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs552480434	chr2:76811922-76811923	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs145749237	chr2:76811989-76811990	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs200935322	chr2:76811995-76811996	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs138719011	chr2:76811998-76811999	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs534997069	chr2:76812015-76812016	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs547231155	chr2:76812052-76812053	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs568466691	chr2:76812056-76812057	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs10204001	chr2:76812058-76812059	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs557504120	chr2:76812076-76812077	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs149315968	chr2:76812077-76812078	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs6743351	chr2:76812081-76812082	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs557667896	chr2:76812088-76812089	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs573135873	chr2:76812140-76812141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs540169178	chr2:76812142-76812143	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs561605097	chr2:76812152-76812153	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10206418	chr2:76812154-76812155	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs543773250	chr2:76812159-76812160	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs186159192	chr2:76812174-76812175	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs191017983	chr2:76812199-76812200	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs10182650	chr2:76812208-76812209	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs182530809	chr2:76812221-76812222	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs556329202	chr2:76812222-76812223	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs12477639	chr2:76812265-76812266	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs146341534	chr2:76812276-76812277	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs550970185	chr2:76812279-76812280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs542328618	chr2:76812302-76812303	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs188049941	chr2:76812310-76812311	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs533563093	chr2:76812378-76812379	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs534890542	chr2:76812445-76812446	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs147871246	chr2:76812446-76812447	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs374647737	chr2:76812483-76812484	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs192531262	chr2:76812489-76812490	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs560249834	chr2:76812501-76812502	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs553772225	chr2:76812547-76812548	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs572958513	chr2:76812561-76812562	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs368790118	chr2:76812572-76812573	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs201481190	chr2:76812579-76812580	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs572087729	chr2:76812599-76812600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs545840407	chr2:76812603-76812604	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Chronic lymphocytic leukemia	21546498	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
Medulloblastoma	21979893	CNVD
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Ependymoma	16718352	CNVD
Prostate cancer	18632612	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Cancer	20164919	CNVD
Hodgkin''s lymphoma	18641027	CNVD
Follicular lymphoma	20505157	CNVD
Autism	17483303	CNVD
Myofibroblastic sarcoma	19369631	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Esophageal adenocarcinoma	18519675	CNVD
Medulloblastoma	20607354	CNVD
Autism	22495311	CNVD
Autism	18522746	CNVD
Lung cancer	18438408	CNVD
Neurodevelopmental disorder	22521361	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Seminomas	18059402	CNVD
Testicular germ cell tumor	18059402	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Renal cell carcinoma	18765545	CNVD
Myxofibrosarcoma	16751306	CNVD
small cell lung cancer	20016488	CNVD
Acute myeloid leukemia	21251322	CNVD
Mental retardation	17124404	CNVD
Basal cell lymphoma	19029149	CNVD
Diffuse large b-cell lymphoma	19029149	CNVD
Cancer	17440070	CNVD
Myelofibrosis	22110671	CNVD
Attention deficit hyperactivity disorder	21324949	CNVD
Breast cancer	16272173	CNVD
Pancreatic ductal adenocarcinoma	19077451	CNVD
Breast cancer	22522925	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:76807400-76826800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:76808600-76824200	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:76808800-76822200	Weak transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:76810200-76813600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:76810400-76826200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:76811000-76813000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr2:76811200-76813000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr2:76811400-76811800	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr2:76811800-76816000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:76813000-76813200	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
11	chr2:76813000-76814200	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr2:76813000-76814200	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr2:76813200-76814000	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr2:76813600-76816400	Strong transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr2:76814000-76817000	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr2:76814200-76816600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr2:76814200-76826400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chr2:76816000-76817000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr2:76816400-76817200	ZNF genes & repeats	ES-WA7 Cell Line	embryonic stem cell
20	chr2:76816600-76817000	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
21	chr2:76817000-76819200	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr2:76817000-76819400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr2:76817000-76826600	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr2:76817200-76849600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
25	chr2:76819200-76823200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr2:76819400-76819800	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
27	chr2:76819800-76821000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:76821000-76823400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
29	chr2:76823200-76829400	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr2:76823400-76826800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr2:76824200-76824400	Enhancers	H9 Cell Line	embryonic stem cell
32	chr2:76824400-76825000	Enhancers	Gastric	stomach
33	chr2:76826200-76827000	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr2:76826400-76827400	Enhancers	iPS-15b Cell Line	embryonic stem cell
35	chr2:76826600-76827400	Enhancers	HUES48 Cell Line	embryonic stem cell
36	chr2:76826800-76827000	Enhancers	H9 Cell Line	embryonic stem cell
37	chr2:76826800-76827000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr2:76826800-76827400	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr2:76826800-76827600	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
40	chr2:76826800-76827600	Enhancers	Brain Hippocampus Middle	brain
41	chr2:76827400-76837600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr2:76827600-76828600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
43	chr2:76828600-76829000	Enhancers	ES-I3 Cell Line	embryonic stem cell
44	chr2:76829000-76837200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr2:76829200-76829800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr2:76829400-76829800	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr2:76835600-76835800	Enhancers	H1 Cell Line	embryonic stem cell
48	chr2:76835800-76837800	Weak transcription	H1 Cell Line	embryonic stem cell
49	chr2:76836400-76836600	Enhancers	HUES64 Cell Line	embryonic stem cell
50	chr2:76836600-76837400	Weak transcription	HUES64 Cell Line	embryonic stem cell

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