Variant report

Variant	esv3440551
Chromosome Location	chr2:182832201-182874730
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:323)
CpG islands
(count:305)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:323 , 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	chr2:182864028-182864330	HepG2	liver:	n/a	n/a
2	ATF2	chr2:182857404-182857938	GM12878	blood:	n/a	n/a
3	ATF2	chr2:182856044-182856771	GM12878	blood:	n/a	n/a
4	ATF2	chr2:182857517-182857953	GM12878	blood:	n/a	n/a
5	ATF2	chr2:182856126-182856701	GM12878	blood:	n/a	n/a
6	ATF3	chr2:182852957-182853191	K562	blood:	n/a	chr2:182853073-182853081 chr2:182853070-182853083 chr2:182853070-182853085 chr2:182853074-182853082 chr2:182853072-182853085 chr2:182853070-182853081 chr2:182853074-182853081 chr2:182853071-182853081 chr2:182853074-182853084
7	BATF	chr2:182857516-182857897	GM12878	blood:	n/a	n/a
8	BATF	chr2:182857538-182857950	GM12878	blood:	n/a	n/a
9	BATF	chr2:182856164-182856556	GM12878	blood:	n/a	n/a
10	BATF	chr2:182856215-182856562	GM12878	blood:	n/a	n/a
11	BCL11A	chr2:182857555-182857803	GM12878	blood:	n/a	n/a
12	BCL11A	chr2:182856201-182856567	GM12878	blood:	n/a	chr2:182856456-182856465
13	BCL11A	chr2:182856263-182856532	GM12878	blood:	n/a	chr2:182856456-182856465
14	BCL11A	chr2:182857524-182857925	GM12878	blood:	n/a	n/a
15	BCL11A	chr2:182857962-182858231	GM12878	blood:	n/a	n/a
16	BCL3	chr2:182842514-182842710	GM12878	blood:	n/a	n/a
17	BCLAF1	chr2:182856002-182856741	GM12878	blood:	n/a	chr2:182856456-182856465
18	BCLAF1	chr2:182857466-182857976	GM12878	blood:	n/a	n/a
19	BHLHE40	chr2:182842422-182842761	GM12878	blood:	n/a	n/a
20	BHLHE40	chr2:182856111-182856621	GM12878	blood:	n/a	n/a
21	BHLHE40	chr2:182842497-182842580	K562	blood:	n/a	n/a
22	BHLHE40	chr2:182857555-182858041	GM12878	blood:	n/a	n/a
23	BHLHE40	chr2:182863774-182863787	K562	blood:	n/a	n/a
24	CBX3	chr2:182842292-182842835	HCT-116	colon:	n/a	n/a
25	CEBPB	chr2:182871456-182871937	K562	blood:	n/a	chr2:182871838-182871849
26	CEBPB	chr2:182871405-182871996	HepG2	liver:	n/a	chr2:182871838-182871849
27	CEBPB	chr2:182865379-182865617	IMR90	lung:	n/a	n/a
28	CEBPB	chr2:182871764-182872004	A549	lung:	n/a	chr2:182871838-182871849 chr2:182871990-182872002
29	CEBPB	chr2:182871335-182872125	Hela-S3	cervix:	n/a	chr2:182871838-182871849 chr2:182871990-182872002
30	CEBPB	chr2:182834201-182834389	HepG2	liver:	n/a	chr2:182834337-182834348
31	CEBPB	chr2:182864018-182864361	HepG2	liver:	n/a	n/a
32	CEBPB	chr2:182861514-182861706	HepG2	liver:	n/a	chr2:182861601-182861614 chr2:182861601-182861614 chr2:182861602-182861613
33	CEBPB	chr2:182857429-182857972	GM12878	blood:	n/a	n/a
34	CEBPB	chr2:182861463-182861770	IMR90	lung:	n/a	chr2:182861601-182861614 chr2:182861601-182861614 chr2:182861602-182861613
35	CEBPB	chr2:182861556-182861999	K562	blood:	n/a	chr2:182861601-182861614 chr2:182861601-182861614 chr2:182861602-182861613
36	CEBPB	chr2:182871472-182872030	IMR90	lung:	n/a	chr2:182871838-182871849 chr2:182871990-182872002
37	CEBPB	chr2:182852992-182853221	Hela-S3	cervix:	n/a	n/a
38	CEBPB	chr2:182863092-182863309	HepG2	liver:	n/a	chr2:182863195-182863206
39	CEBPB	chr2:182863088-182863349	A549	lung:	n/a	chr2:182863195-182863206
40	CEBPB	chr2:182864068-182864217	HepG2	liver:	n/a	n/a
41	CHD1	chr2:182856523-182856832	GM12878	blood:	n/a	n/a
42	CHD2	chr2:182856235-182856569	GM12878	blood:	n/a	n/a
43	CHD2	chr2:182844417-182844421	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr2:182835020-182835170	AG09309	skin:	n/a	n/a
45	CTCF	chr2:182835020-182835170	GM12878	blood:	n/a	n/a
46	CTCF	chr2:182835048-182835091	LNCaP	prostate:	n/a	n/a
47	CTCF	chr2:182835028-182835080	GM20000	blood:	n/a	n/a
48	CTCF	chr2:182869200-182869350	RPTEC	kidney:	n/a	n/a
49	CTCF	chr2:182835032-182835145	MCF-7	breast:	n/a	n/a
50	CTCF	chr2:182835040-182835190	GM06990	blood:	n/a	n/a

(count:305 , 50 per page) page: 1 2 3 4 5 6 7

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:182850114-182850164	AG09319	gingival:	n/a
2	chr2:182850441-182850491	K562	blood:	n/a
3	chr2:182850269-182850319	HEEpiC	esophagus:	n/a
4	chr2:182850441-182850491	HNPCEpiC	eye:	n/a
5	chr2:182850683-182850733	A549	lung:	n/a
6	chr2:182850441-182850491	GM12891	blood:	n/a
7	chr2:182850059-182850109	PFSK-1	brain:	n/a
8	chr2:182850059-182850109	K562	blood:	n/a
9	chr2:182850441-182850491	ECC-1	luminal epithelium:	n/a
10	chr2:182850441-182850491	HIPEpiC	eye:	n/a
11	chr2:182850269-182850319	BE2_C	brain:	n/a
12	chr2:182850114-182850164	NHDF-neo	bronchial:	n/a
13	chr2:182850114-182850164	ECC-1	luminal epithelium:	n/a
14	chr2:182850114-182850164	Hepatocyte	liver:	n/a
15	chr2:182850683-182850733	LNCaP	prostate:	n/a
16	chr2:182850114-182850164	HIPEpiC	eye:	n/a
17	chr2:182850683-182850733	HCM	heart:	n/a
18	chr2:182850269-182850319	GM06990	blood:	n/a
19	chr2:182850114-182850164	U87	brain:	n/a
20	chr2:182850683-182850733	HPAEpiC	pulmonary alveolar:	n/a
21	chr2:182850269-182850319	NHBE	bronchial:	n/a
22	chr2:182850114-182850164	HCM	heart:	n/a
23	chr2:182850269-182850319	Caco-2	colon:	n/a
24	chr2:182850059-182850109	HCF	heart:	n/a
25	chr2:182850683-182850733	H1-hESC	embryonic stem cell:	embryo
26	chr2:182850114-182850164	HMEC	breast:	n/a
27	chr2:182850059-182850109	HL-60	blood:	n/a
28	chr2:182850269-182850319	ECC-1	luminal epithelium:	n/a
29	chr2:182850269-182850319	HRPEpiC	eye:	n/a
30	chr2:182850441-182850491	Jurkat	blood:	n/a
31	chr2:182850059-182850109	HEEpiC	esophagus:	n/a
32	chr2:182850114-182850164	AG04450	lung:	fetal
33	chr2:182850059-182850109	MCF10A-Er-Src	breast:	n/a
34	chr2:182850269-182850319	AG04449	skin:	fetal
35	chr2:182850114-182850164	MCF10A-Er-Src	breast:	n/a
36	chr2:182850441-182850491	HPAEpiC	pulmonary alveolar:	n/a
37	chr2:182850114-182850164	AG10803	skin:	n/a
38	chr2:182850059-182850109	HNPCEpiC	eye:	n/a
39	chr2:182850269-182850319	CMK	blood:	n/a
40	chr2:182850114-182850164	HCT-116	colon:	n/a
41	chr2:182850683-182850733	NT2-D1	testis:	n/a
42	chr2:182850114-182850164	PrEC	prostate:	n/a
43	chr2:182850114-182850164	GM12878	blood:	n/a
44	chr2:182850269-182850319	HNPCEpiC	eye:	n/a
45	chr2:182850269-182850319	NH-A	brain:	n/a
46	chr2:182850059-182850109	AG09309	skin:	n/a
47	chr2:182850683-182850733	Jurkat	blood:	n/a
48	chr2:182850269-182850319	HCF	heart:	n/a
49	chr2:182850114-182850164	K562	blood:	n/a
50	chr2:182850114-182850164	NT2-D1	testis:	n/a

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:182836953..182839743-chr2:182839772..182841662,2	MCF-7	breast:
2	chr2:182839510..182841754-chr2:182858245..182860406,2	MCF-7	breast:
3	chr2:182852107..182855000-chr2:182869613..182871502,2	K562	blood:
4	chr2:182755901..182757653-chr2:182867992..182870447,2	MCF-7	breast:
5	chr2:182836953..182839743-chr2:182839772..182841662,2	MCF-7	breast:
6	chr2:182872166..182874460-chr2:182876002..182878763,2	MCF-7	breast:
7	chr2:182836063..182838521-chr2:182838783..182840925,2	K562	blood:
8	chr2:182851614..182854352-chr2:182854697..182857369,2	MCF-7	breast:
9	chr2:182862171..182864492-chr2:182883282..182885196,2	MCF-7	breast:
10	chr2:182852741..182855289-chr2:182863104..182865344,4	MCF-7	breast:
11	chr2:182851614..182854352-chr2:182854697..182857369,2	MCF-7	breast:
12	chr2:182859124..182860811-chr2:182868935..182871871,2	MCF-7	breast:
13	chr2:182838692..182841583-chr2:182843966..182846808,2	MCF-7	breast:
14	chr2:182836063..182838521-chr2:182838783..182840925,2	K562	blood:
15	chr2:182757088..182758635-chr2:182858393..182860996,2	MCF-7	breast:
16	chr2:182840877..182843428-chr2:182848900..182850876,3	MCF-7	breast:
17	chr2:182859124..182860811-chr2:182868935..182871871,2	MCF-7	breast:
18	chr2:182843541..182845262-chr2:182852345..182855215,2	K562	blood:
19	chr2:182856985..182859810-chr2:182861410..182863046,2	MCF-7	breast:
20	chr2:182843541..182845262-chr2:182852345..182855215,2	K562	blood:
21	chr2:182852741..182855289-chr2:182863104..182865344,4	MCF-7	breast:
22	chr2:182852107..182855000-chr2:182869613..182871502,2	K562	blood:
23	chr2:182856985..182859810-chr2:182861410..182863046,2	MCF-7	breast:
24	chr2:182839510..182841754-chr2:182858245..182860406,2	MCF-7	breast:
25	chr2:182838692..182841583-chr2:182843966..182846808,2	MCF-7	breast:

No data

Variant related genes	Relation type
KRT18P29	TF binding region
PPP1R1C	TF binding region
KRT18P29	CpG island
PPP1R1C	CpG island
ENSG00000260742	chromatin interactions
ENSG00000138434	chromatin interactions
ENSG00000150722	chromatin interactions

Extended variants
information (count: 1382 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:1382 , 50 per page) page: 1 2 3 4 5 6 7 ... 28

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs565366704	chr2:182832278-182832279	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs530878590	chr2:182832336-182832337	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs544720149	chr2:182832398-182832399	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs146666092	chr2:182832477-182832478	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs530155263	chr2:182832520-182832521	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs547309217	chr2:182832521-182832522	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs567200052	chr2:182832529-182832530	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs190437832	chr2:182832536-182832537	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs562345438	chr2:182832552-182832553	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs570136678	chr2:182832610-182832611	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs552459995	chr2:182832658-182832659	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs569457333	chr2:182832661-182832662	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs61413642	chr2:182832685-182832686	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
14	rs537437097	chr2:182832705-182832706	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs111656787	chr2:182832724-182832725	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs137953991	chr2:182832737-182832738	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
17	rs533592355	chr2:182832738-182832739	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs570919798	chr2:182832869-182832870	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs577098530	chr2:182832905-182832906	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs182192227	chr2:182832907-182832908	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs556037198	chr2:182832928-182832929	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs576192262	chr2:182832937-182832938	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs544706074	chr2:182832971-182832972	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs185831739	chr2:182833011-182833012	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs574863376	chr2:182833018-182833019	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs200362070	chr2:182833071-182833072	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs540663567	chr2:182833096-182833097	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
28	rs112637702	chr2:182833099-182833100	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs551493329	chr2:182833107-182833108	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs532667042	chr2:182833120-182833121	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs57717273	chr2:182833130-182833131	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs562900968	chr2:182833140-182833141	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531974264	chr2:182833169-182833170	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs555270965	chr2:182833178-182833179	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs144015576	chr2:182833182-182833183	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs547881207	chr2:182833317-182833318	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs118067738	chr2:182833327-182833328	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs143142448	chr2:182833338-182833339	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs370472705	chr2:182833343-182833344	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs34615986	chr2:182833417-182833418	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs574664633	chr2:182833475-182833476	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs546957796	chr2:182833524-182833525	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs570427713	chr2:182833533-182833534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs111477104	chr2:182833541-182833542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs148237185	chr2:182833559-182833560	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs556460081	chr2:182833583-182833584	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs537121588	chr2:182833589-182833590	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs113726291	chr2:182833593-182833594	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs116037069	chr2:182833602-182833603	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs535674100	chr2:182833614-182833615	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Breast cancer	17603634	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Ependymoma	16718352	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	18522746	CNVD
Melanoma	18172304	CNVD
Cancer	16751803	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Testicular germ cell tumor	18059402	CNVD
Breast cancer	16272173	CNVD
Ewing''s sarcoma	17952124	CNVD
Cancer	21637783	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Embryonal rhabdomyosarcoma	16790082	CNVD
Autism	16446308	CNVD
Autism	19401682	CNVD
Colorectal cancer	16272173	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Lung cancer	18438408	CNVD
Glioblastoma	21080181	CNVD
Prostate cancer	18632612	CNVD
Sudden cardiac death	19188705	CNVD
Acute myeloid leukemia	20729466	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
small cell lung cancer	20016488	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Biliary cancer	20360734	CNVD
Breast cancer	20360734	CNVD
Coronary artery disease	20360734	CNVD
Crohn''s disease	20360734	CNVD
Hypertension	20360734	CNVD
Rheumatoid arthritis	20360734	CNVD
Type 1 diabetes	20360734	CNVD
Type 2 diabetes	20360734	CNVD
Breast cancer	21364760	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Cancer	21183584	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	18451855	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD

Chromatin state (count:208 , 50 per page) page: 1 2 3 4 5

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:182826800-182833800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr2:182827800-182835200	Weak transcription	Thymus	Thymus
3	chr2:182827800-182835400	Weak transcription	Fetal Thymus	thymus
4	chr2:182834600-182835000	Weak transcription	Aorta	Aorta
5	chr2:182834800-182835000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:182834800-182835600	Enhancers	HepG2	liver
7	chr2:182834800-182835800	Enhancers	Liver	Liver
8	chr2:182834800-182836000	Enhancers	Stomach Mucosa	stomach
9	chr2:182835000-182835200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr2:182835000-182835800	ZNF genes & repeats	Aorta	Aorta
11	chr2:182835000-182836800	Enhancers	Pancreas	Pancrea
12	chr2:182835000-182838200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr2:182835200-182836800	Strong transcription	Thymus	Thymus
14	chr2:182835200-182837400	Enhancers	NHEK	skin
15	chr2:182835400-182836000	Strong transcription	Fetal Thymus	thymus
16	chr2:182835400-182836800	Enhancers	Gastric	stomach
17	chr2:182835600-182838400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr2:182835800-182836200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr2:182835800-182837800	Enhancers	HMEC	breast
20	chr2:182836000-182836200	Flanking Active TSS	Stomach Mucosa	stomach
21	chr2:182836000-182841400	Weak transcription	Fetal Thymus	thymus
22	chr2:182836200-182837200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:182836200-182838200	Enhancers	Stomach Mucosa	stomach
24	chr2:182836600-182836800	Enhancers	Placenta Amnion	Placenta Amnion
25	chr2:182836600-182837400	Enhancers	Fetal Brain Female	brain
26	chr2:182836800-182842400	Weak transcription	Thymus	Thymus
27	chr2:182837000-182838000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr2:182837200-182838000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:182837200-182838000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr2:182837400-182837600	Flanking Active TSS	NHEK	skin
31	chr2:182837600-182837800	Enhancers	NHEK	skin
32	chr2:182837800-182838000	Flanking Active TSS	NHEK	skin
33	chr2:182837800-182838200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:182837800-182842000	Weak transcription	HMEC	breast
35	chr2:182838000-182838600	Enhancers	NHEK	skin
36	chr2:182838000-182842000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr2:182838000-182848600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:182838000-182849200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:182838200-182842200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr2:182838200-182842400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr2:182838400-182842000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr2:182838600-182842000	Weak transcription	NHEK	skin
43	chr2:182839200-182842400	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr2:182841400-182845400	Strong transcription	Fetal Thymus	thymus
45	chr2:182842000-182842200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr2:182842000-182843200	Enhancers	NHEK	skin
47	chr2:182842000-182843400	Enhancers	Hela-S3	cervix
48	chr2:182842000-182843600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr2:182842000-182843800	Enhancers	HMEC	breast
50	chr2:182842200-182842600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links