Variant report

Variant	nsv1003130
Chromosome Location	chr2:172189196-172237268
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:310)
CpG islands
(count:183)
Chromatin interactive
region (count:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:310 , 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	ATF1	chr2:172193152-172193425	K562	blood:	n/a	n/a
2	ATF2	chr2:172203556-172204603	GM12878	blood:	n/a	n/a
3	ATF2	chr2:172193078-172193538	GM12878	blood:	n/a	n/a
4	ATF2	chr2:172193034-172193877	GM12878	blood:	n/a	n/a
5	ATF2	chr2:172202742-172204636	GM12878	blood:	n/a	n/a
6	BACH1	chr2:172218647-172218669	H1-hESC	embryonic stem cell:	n/a	n/a
7	BATF	chr2:172203484-172203925	GM12878	blood:	n/a	chr2:172203864-172203873 chr2:172203657-172203668
8	BATF	chr2:172193218-172193509	GM12878	blood:	n/a	n/a
9	BCL11A	chr2:172193236-172193492	GM12878	blood:	n/a	n/a
10	BCLAF1	chr2:172203536-172204343	GM12878	blood:	n/a	n/a
11	BCLAF1	chr2:172192994-172193582	GM12878	blood:	n/a	n/a
12	BHLHE40	chr2:172193128-172193483	GM12878	blood:	n/a	n/a
13	BHLHE40	chr2:172202901-172203106	GM12878	blood:	n/a	n/a
14	BHLHE40	chr2:172203697-172204008	GM12878	blood:	n/a	n/a
15	CCNT2	chr2:172203089-172203275	K562	blood:	n/a	n/a
16	CEBPB	chr2:172222416-172222564	HepG2	liver:	n/a	n/a
17	CEBPB	chr2:172203529-172204618	GM12878	blood:	n/a	chr2:172203593-172203601
18	CEBPB	chr2:172222342-172222674	HepG2	liver:	n/a	n/a
19	CEBPB	chr2:172225185-172225439	HepG2	liver:	n/a	n/a
20	CEBPB	chr2:172225297-172225364	H1-hESC	embryonic stem cell:	n/a	n/a
21	CEBPB	chr2:172225247-172225447	A549	lung:	n/a	n/a
22	CEBPB	chr2:172193077-172193892	GM12878	blood:	n/a	n/a
23	CEBPB	chr2:172225258-172225478	K562	blood:	n/a	n/a
24	CHD1	chr2:172203773-172204316	GM12878	blood:	n/a	n/a
25	CHD1	chr2:172193148-172193343	GM12878	blood:	n/a	n/a
26	CHD2	chr2:172203678-172204328	GM12878	blood:	n/a	n/a
27	CHD2	chr2:172193248-172193315	GM12878	blood:	n/a	n/a
28	CREB1	chr2:172193058-172193559	GM12878	blood:	n/a	n/a
29	CTCF	chr2:172203600-172203750	GM12865	blood:	n/a	n/a
30	CTCF	chr2:172203720-172203870	GM12864	blood:	n/a	n/a
31	CTCF	chr2:172203723-172203895	Gliobla	brain:	n/a	n/a
32	CTCF	chr2:172203680-172203830	HPAF	blood vessel:	n/a	n/a
33	CTCF	chr2:172203640-172203790	GM12868	blood:	n/a	n/a
34	CTCF	chr2:172203720-172203870	AG04450	lung:	n/a	n/a
35	CTCF	chr2:172203700-172203850	AG04449	skin:	n/a	n/a
36	CTCF	chr2:172203720-172203870	HUVEC	blood vessel:	n/a	n/a
37	CTCF	chr2:172203740-172203890	GM12874	blood:	n/a	n/a
38	CTCF	chr2:172203735-172203843	GM10248	blood:	n/a	n/a
39	CTCF	chr2:172203840-172203990	HFF	foreskin:	n/a	n/a
40	CTCF	chr2:172203680-172203830	HRPEpiC	eye:	n/a	n/a
41	CTCF	chr2:172203680-172203830	NHEK	skin:	n/a	n/a
42	CTCF	chr2:172203740-172203890	HRE	kidney:	n/a	n/a
43	CTCF	chr2:172203761-172203851	MCF-7	breast:	n/a	n/a
44	CTCF	chr2:172203777-172203852	GM19240	blood:	n/a	n/a
45	CTCF	chr2:172203760-172203910	GM06990	blood:	n/a	n/a
46	CTCF	chr2:172203801-172203837	GM20000	blood:	n/a	n/a
47	CTCF	chr2:172190620-172190770	GM12866	blood:	n/a	n/a
48	CTCF	chr2:172203740-172203890	GM12873	blood:	n/a	n/a
49	CTCF	chr2:172203680-172203830	GM12867	blood:	n/a	n/a
50	CTCF	chr2:172203780-172203930	GM12870	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:172231724-172231774	HPAEpiC	pulmonary alveolar:	n/a
2	chr2:172231724-172231774	GM06990	blood:	n/a
3	chr2:172231724-172231774	HAEpiC	amniotic membrane:	n/a
4	chr2:172203847-172203897	MCF10A-Er-Src	breast:	n/a
5	chr2:172231706-172231756	BE2_C	brain:	n/a
6	chr2:172231724-172231774	GM12892	blood:	n/a
7	chr2:172231706-172231756	GM06990	blood:	n/a
8	chr2:172203847-172203897	HUVEC	blood vessel:	n/a
9	chr2:172203847-172203897	NH-A	brain:	n/a
10	chr2:172231724-172231774	AG09319	gingival:	n/a
11	chr2:172231724-172231774	GM12891	blood:	n/a
12	chr2:172231724-172231774	Caco-2	colon:	n/a
13	chr2:172231724-172231774	BE2_C	brain:	n/a
14	chr2:172203847-172203897	HL-60	blood:	n/a
15	chr2:172231724-172231774	AG04449	skin:	fetal
16	chr2:172203847-172203897	CMK	blood:	n/a
17	chr2:172231724-172231774	GM12878	blood:	n/a
18	chr2:172203847-172203897	AoSMC	blood vessel:	n/a
19	chr2:172231706-172231756	HUVEC	blood vessel:	n/a
20	chr2:172231706-172231756	BJ	skin:	n/a
21	chr2:172231724-172231774	PrEC	prostate:	n/a
22	chr2:172231724-172231774	HEK293	kidney:	embryo
23	chr2:172203847-172203897	HCF	heart:	n/a
24	chr2:172231706-172231756	K562	blood:	n/a
25	chr2:172231706-172231756	AG04450	lung:	fetal
26	chr2:172203847-172203897	HCM	heart:	n/a
27	chr2:172231706-172231756	PANC-1	pancreas:	n/a
28	chr2:172231706-172231756	HNPCEpiC	eye:	n/a
29	chr2:172203847-172203897	HEK293	kidney:	embryo
30	chr2:172231724-172231774	NB4	blood:	n/a
31	chr2:172231706-172231756	IMR90	lung:	fetal
32	chr2:172203847-172203897	AG09309	skin:	n/a
33	chr2:172231724-172231774	HCT-116	colon:	n/a
34	chr2:172231724-172231774	K562	blood:	n/a
35	chr2:172203847-172203897	U87	brain:	n/a
36	chr2:172231706-172231756	PFSK-1	brain:	n/a
37	chr2:172231706-172231756	Jurkat	blood:	n/a
38	chr2:172231724-172231774	AG10803	skin:	n/a
39	chr2:172231706-172231756	CMK	blood:	n/a
40	chr2:172203847-172203897	HPAEpiC	pulmonary alveolar:	n/a
41	chr2:172203847-172203897	HCT-116	colon:	n/a
42	chr2:172231724-172231774	NH-A	brain:	n/a
43	chr2:172231706-172231756	MCF-7	breast:	n/a
44	chr2:172203847-172203897	SK-N-SH	brain:	n/a
45	chr2:172231706-172231756	AoSMC	blood vessel:	n/a
46	chr2:172203847-172203897	GM12878	blood:	n/a
47	chr2:172231724-172231774	NT2-D1	testis:	n/a
48	chr2:172203847-172203897	RPTEC	kidney:	n/a
49	chr2:172231706-172231756	HPAEpiC	pulmonary alveolar:	n/a
50	chr2:172203847-172203897	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr2:172211606..172213974-chr2:172215315..172217354,2	K562	blood:
2	chr2:172202384..172205221-chr2:172288983..172291162,2	MCF-7	breast:
3	chr2:172203360..172205548-chr2:172289457..172291290,2	K562	blood:
4	chr2:172211606..172213974-chr2:172215315..172217354,2	K562	blood:
5	chr2:172218525..172220285-chr2:172222152..172224139,2	K562	blood:
6	chr2:172196355..172199684-chr2:172288613..172292123,3	K562	blood:
7	chr2:172226142..172229101-chr2:172289900..172293776,3	MCF-7	breast:
8	chr2:172218525..172220285-chr2:172222152..172224139,2	K562	blood:
9	chr16:68032935..68033437-chr2:172203027..172203527,2	NB4	blood:
10	chr2:172183444..172186307-chr2:172187734..172190283,2	K562	blood:
11	chr2:172195543..172198226-chr2:172202198..172204189,2	K562	blood:
12	chr2:172181378..172183411-chr2:172203643..172205572,2	K562	blood:
13	chr2:172226966..172228845-chr2:172231909..172233652,2	K562	blood:
14	chr2:171784639..171787571-chr2:172201590..172203702,2	K562	blood:
15	chr2:172226966..172228845-chr2:172231909..172233652,2	K562	blood:

No data

Variant related genes	Relation type
METTL8	TF binding region
ENSG00000224553	TF binding region
METTL8	CpG island
ENSG00000224553	CpG island
ENSG00000123600	chromatin interactions
ENSG00000167261	chromatin interactions
ENSG00000115827	chromatin interactions
ENSG00000115806	chromatin interactions

Extended variants
information (count: 1828 )
Associated
traits (count: 47 )

Variant overlapped rSNPs/rCNVs (count:1828 , 50 per page) page: 1 2 3 4 5 6 7 ... 37

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs142766195	chr2:172189268-172189269	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs558755802	chr2:172189274-172189275	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs577272707	chr2:172189301-172189302	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs537808787	chr2:172189363-172189364	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs556132100	chr2:172189377-172189378	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs577766157	chr2:172189379-172189380	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs147377477	chr2:172189396-172189397	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs542094086	chr2:172189439-172189440	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs534034832	chr2:172189446-172189447	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs192094016	chr2:172189466-172189467	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs182835873	chr2:172189496-172189497	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs376879577	chr2:172189537-172189538	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs386652696	chr2:172189538-172189539	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs61551822	chr2:172189539-172189540	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs556676624	chr2:172189541-172189542	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs56926024	chr2:172189547-172189548	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs57306512	chr2:172189548-172189549	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs374467406	chr2:172189551-172189552	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs550735819	chr2:172189587-172189588	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs554483485	chr2:172189593-172189594	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs562463972	chr2:172189603-172189604	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11427651	chr2:172189610-172189611	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs529750222	chr2:172189616-172189617	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs548151644	chr2:172189621-172189622	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs398104968	chr2:172189622-172189623	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs187681843	chr2:172189668-172189669	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs533703244	chr2:172189677-172189678	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs368713781	chr2:172189694-172189695	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs200631324	chr2:172189695-172189696	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs552360680	chr2:172189743-172189744	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs6712315	chr2:172189749-172189750	Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
32	rs142381153	chr2:172189765-172189766	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs542985338	chr2:172189852-172189853	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs556264719	chr2:172189880-172189881	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs571154534	chr2:172189903-172189904	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs56902635	chr2:172189911-172189912	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs151326157	chr2:172189997-172189998	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs116684648	chr2:172190043-172190044	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs190037101	chr2:172190047-172190048	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs559112030	chr2:172190078-172190079	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs375871524	chr2:172190085-172190086	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs116521836	chr2:172190127-172190128	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs75271116	chr2:172190138-172190139	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs139394698	chr2:172190284-172190285	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs576757773	chr2:172190291-172190292	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs544309008	chr2:172190381-172190382	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs182571788	chr2:172190391-172190392	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs78427886	chr2:172190427-172190428	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs548173482	chr2:172190447-172190448	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs575600169	chr2:172190448-172190449	Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:47)

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
Cancer	20164919	CNVD
Autism	18522746	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
Seminomas	18059402	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
small cell lung cancer	20016488	CNVD
Invasive pancreatic ductal carcinoma	16982739	CNVD
Prostate cancer	16573809	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Prostate cancer	18632612	CNVD
Myelofibrosis	22110671	CNVD
Hirschsprung''s Disease	21712996	CNVD
Donnai-Barrow syndrome	21085971	CNVD
Breast cancer	21045282	CNVD
Limb abnormalities	22140379	CNVD
Sudden cardiac death	19188705	CNVD
Breast cancer	21364760	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Pancreatic cancer	17952125	CNVD
Chronic myeloid leukemia	21384125	CNVD

Chromatin state (count:457 , 50 per page) page: 1 2 3 4 5 6 7 ... 10

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:172169200-172193400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr2:172170200-172192800	Weak transcription	Fetal Intestine Large	intestine
3	chr2:172171400-172190800	Weak transcription	Esophagus	oesophagus
4	chr2:172171800-172211600	Weak transcription	Fetal Intestine Small	intestine
5	chr2:172172600-172190600	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:172172800-172190600	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr2:172172800-172222400	Weak transcription	Fetal Muscle Trunk	muscle
8	chr2:172176200-172198600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr2:172178000-172190600	Weak transcription	Left Ventricle	heart
10	chr2:172180000-172195800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:172180600-172190800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr2:172180600-172203400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:172180800-172193000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:172180800-172198200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr2:172181000-172203800	Weak transcription	HMEC	breast
16	chr2:172181000-172221600	Weak transcription	K562	blood
17	chr2:172181200-172198000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
18	chr2:172181200-172204200	Weak transcription	NHEK	skin
19	chr2:172182800-172193200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:172183800-172197200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr2:172184000-172190200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
22	chr2:172184000-172195800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:172184000-172197800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr2:172184000-172198000	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr2:172184000-172203400	Weak transcription	NH-A	brain
26	chr2:172184200-172193200	Weak transcription	Primary T cells from cord blood	blood
27	chr2:172184600-172190600	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:172184600-172190600	Weak transcription	Colon Smooth Muscle	Colon
29	chr2:172184600-172203200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr2:172184800-172195600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr2:172184800-172195800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr2:172184800-172203200	Weak transcription	Fetal Thymus	thymus
33	chr2:172184800-172203200	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:172185000-172190000	Weak transcription	HUES48 Cell Line	embryonic stem cell
35	chr2:172185000-172190600	Weak transcription	HepG2	liver
36	chr2:172185000-172190800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr2:172185000-172193000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr2:172185000-172200400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:172185000-172202200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr2:172186600-172191000	Weak transcription	Primary B cells from cord blood	blood
41	chr2:172187000-172204200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr2:172187600-172190600	Weak transcription	HSMMtube	muscle
43	chr2:172187600-172203000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr2:172188200-172189600	Strong transcription	GM12878-XiMat	blood
45	chr2:172188400-172189400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr2:172188800-172190600	Weak transcription	Primary B cells from peripheral blood	blood
47	chr2:172189400-172204200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr2:172189600-172190200	Weak transcription	GM12878-XiMat	blood
49	chr2:172190200-172190600	Genic enhancers	GM12878-XiMat	blood
50	chr2:172190600-172190800	Enhancers	HUES6 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links