Variant report

Variant	esv1813473
Chromosome Location	chr2:179515899-179540690
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:87)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:87 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr2:179536400-179536449	HepG2	liver:	n/a	chr2:179536426-179536439
2	CHD2	chr2:179529739-179529984	K562	blood:	n/a	chr2:179529852-179529861
3	CTCF	chr2:179538937-179539217	H1-hESC	embryonic stem cell:	n/a	n/a
4	CTCF	chr2:179539000-179539150	HAc	cerebellar:	n/a	n/a
5	CTCF	chr2:179539025-179539076	GM10266	blood:	n/a	n/a
6	CTCF	chr2:179538980-179539130	HPF	lung:	n/a	n/a
7	CTCF	chr2:179538980-179539130	K562	blood:	n/a	n/a
8	CTCF	chr2:179538920-179539070	HA-sp	spinal cord:	n/a	n/a
9	CTCF	chr2:179539020-179539170	HBMEC	blood vessel:	n/a	n/a
10	CTCF	chr2:179539000-179539150	HBMEC	blood vessel:	n/a	n/a
11	CTCF	chr2:179538989-179539126	LNCaP	prostate:	n/a	n/a
12	CTCF	chr2:179539000-179539150	GM12875	blood:	n/a	n/a
13	CTCF	chr2:179538940-179539090	HRPEpiC	eye:	n/a	n/a
14	CTCF	chr2:179539000-179539150	HPAF	blood vessel:	n/a	n/a
15	CTCF	chr2:179516569-179516644	H1-hESC	embryonic stem cell:	n/a	n/a
16	CTCF	chr2:179538980-179539130	WERI-Rb-1	eye:	n/a	n/a
17	CTCF	chr2:179538980-179539130	HCT-116	colon:	n/a	n/a
18	CTCF	chr2:179539000-179539150	BJ	skin:	n/a	n/a
19	CTCF	chr2:179538980-179539130	GM12878	blood:	n/a	n/a
20	CTCF	chr2:179538960-179539110	HMF	breast:	n/a	n/a
21	CTCF	chr2:179538947-179539134	K562	blood:	n/a	n/a
22	CTCF	chr2:179539000-179539150	BE2_C	brain:	n/a	n/a
23	CTCF	chr2:179539060-179539210	A549	lung:	n/a	n/a
24	CTCF	chr2:179538954-179539129	Hela-S3	cervix:	n/a	n/a
25	CTCF	chr2:179538920-179539070	GM12872	blood:	n/a	n/a
26	CTCF	chr2:179538987-179539139	HepG2	liver:	n/a	n/a
27	CTCF	chr2:179538927-179539171	MCF-7	breast:	n/a	n/a
28	CTCF	chr2:179539000-179539150	HEEpiC	esophagus:	n/a	n/a
29	CTCF	chr2:179538960-179539110	HCT-116	colon:	n/a	n/a
30	CTCF	chr2:179538907-179539213	K562	blood:	n/a	n/a
31	CTCF	chr2:179538960-179539110	HEK293	kidney:	n/a	n/a
32	CTCF	chr2:179538960-179539110	AG09319	gingival:	n/a	n/a
33	CTCF	chr2:179538965-179539129	SK-N-SH_RA	brain:	n/a	n/a
34	CTCF	chr2:179538980-179539130	Caco-2	colon:	n/a	n/a
35	CTCF	chr2:179538900-179539050	RPTEC	kidney:	n/a	n/a
36	CTCF	chr2:179538980-179539130	HCPEpiC	choroid plexus:	n/a	n/a
37	CTCF	chr2:179538900-179539050	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:179538920-179539070	HRPEpiC	eye:	n/a	n/a
39	CTCF	chr2:179538963-179539135	MCF-7	breast:	n/a	n/a
40	CTCF	chr2:179538994-179539098	MCF-7	breast:	n/a	n/a
41	CTCF	chr2:179528004-179528021	GM13976	blood:	n/a	n/a
42	CTCF	chr2:179538991-179539096	Gliobla	brain:	n/a	n/a
43	CTCF	chr2:179526675-179526747	LNCaP	prostate:	n/a	n/a
44	CTCF	chr2:179539009-179539135	LNCaP	prostate:	n/a	n/a
45	CTCF	chr2:179538980-179539130	HepG2	liver:	n/a	n/a
46	CTCF	chr2:179538960-179539110	AG04450	lung:	n/a	n/a
47	CTCF	chr2:179538957-179539080	GM12878	blood:	n/a	n/a
48	CTCF	chr2:179538919-179539137	HepG2	liver:	n/a	n/a
49	CTCF	chr2:179539040-179539190	HRE	kidney:	n/a	n/a
50	CTCF	chr2:179538820-179538970	HAc	cerebellar:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr2:179516579-179516629	AG09309	skin:	n/a
2	chr2:179516579-179516629	SKMC	muscle:	n/a
3	chr2:179516579-179516629	HCF	heart:	n/a
4	chr2:179516579-179516629	PANC-1	pancreas:	n/a
5	chr2:179516579-179516629	IMR90	lung:	fetal
6	chr2:179516579-179516629	HCPEpiC	choroid plexus:	n/a
7	chr2:179516579-179516629	GM19239	blood:	n/a
8	chr2:179516579-179516629	SK-N-SH_RA	brain:	n/a
9	chr2:179516579-179516629	HEK293	kidney:	embryo
10	chr2:179516579-179516629	AG10803	skin:	n/a
11	chr2:179516579-179516629	ovcar-3	ovarian:	n/a
12	chr2:179516579-179516629	MCF-7	breast:	n/a
13	chr2:179516579-179516629	ECC-1	luminal epithelium:	n/a
14	chr2:179516579-179516629	GM12891	blood:	n/a
15	chr2:179516579-179516629	HepG2	liver:	n/a
16	chr2:179516579-179516629	RPTEC	kidney:	n/a
17	chr2:179516579-179516629	AG04450	lung:	fetal
18	chr2:179516579-179516629	NHBE	bronchial:	n/a
19	chr2:179516579-179516629	ProgFib	skin:	n/a
20	chr2:179516579-179516629	K562	blood:	n/a
21	chr2:179516579-179516629	HUVEC	blood vessel:	n/a
22	chr2:179516579-179516629	SK-N-MC	brain:	n/a
23	chr2:179516579-179516629	HRPEpiC	eye:	n/a
24	chr2:179516579-179516629	HEEpiC	esophagus:	n/a
25	chr2:179516579-179516629	A549	lung:	n/a
26	chr2:179516579-179516629	GM12878	blood:	n/a
27	chr2:179516579-179516629	GM06990	blood:	n/a
28	chr2:179516579-179516629	HAEpiC	amniotic membrane:	n/a
29	chr2:179516579-179516629	HMEC	breast:	n/a
30	chr2:179516579-179516629	T-47D	breast:	n/a
31	chr2:179516579-179516629	NT2-D1	testis:	n/a
32	chr2:179516579-179516629	MCF10A-Er-Src	breast:	n/a
33	chr2:179516579-179516629	HIPEpiC	eye:	n/a
34	chr2:179516579-179516629	BJ	skin:	n/a
35	chr2:179516579-179516629	PFSK-1	brain:	n/a
36	chr2:179516579-179516629	Caco-2	colon:	n/a
37	chr2:179516579-179516629	NB4	blood:	n/a
38	chr2:179516579-179516629	GM12892	blood:	n/a
39	chr2:179516579-179516629	SK-N-SH	brain:	n/a
40	chr2:179516579-179516629	U87	brain:	n/a
41	chr2:179516579-179516629	PrEC	prostate:	n/a
42	chr2:179516579-179516629	HPAEpiC	pulmonary alveolar:	n/a
43	chr2:179516579-179516629	HCT-116	colon:	n/a
44	chr2:179516579-179516629	H1-hESC	embryonic stem cell:	embryo
45	chr2:179516579-179516629	Jurkat	blood:	n/a
46	chr2:179516579-179516629	HNPCEpiC	eye:	n/a
47	chr2:179516579-179516629	AG04449	skin:	fetal
48	chr2:179516579-179516629	AoSMC	blood vessel:	n/a
49	chr2:179516579-179516629	Hela-S3	cervix:	n/a
50	chr2:179516579-179516629	AG09319	gingival:	n/a

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No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:179532392..179535244-chr2:179536264..179538357,2	K562	blood:
2	chr2:179537583..179540375-chr2:179542261..179543923,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CCDC141-3	chr2:179537189-179537208	NONHSAT075812
2	lnc-PLEKHA3-1	chr2:179539829-179540004	ENSG00000237298.4

No data

Variant related genes	Relation type
TTN	TF binding region
TTN	CpG island
ENSG00000155657	chromatin interactions

Extended variants
information (count: 677 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:677 , 50 per page) page: 1 2 3 4 5 6 7 ... 14

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs373813404	chr2:179515924-179515925	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
2	rs368801508	chr2:179515933-179515934	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs186404793	chr2:179515979-179515980	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs200322629	chr2:179515981-179515982	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
5	rs372356060	chr2:179515989-179515990	Strong transcription Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs190461403	chr2:179516017-179516018	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs376378973	chr2:179516024-179516025	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs369594816	chr2:179516055-179516056	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs573669043	chr2:179516121-179516122	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs371905936	chr2:179516147-179516148	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs376818881	chr2:179516148-179516149	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs542579943	chr2:179516149-179516150	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs72650065	chr2:179516156-179516157	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs559113689	chr2:179516161-179516162	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs375103546	chr2:179516199-179516200	Strong transcription Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs397517558	chr2:179516223-179516224	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs397517557	chr2:179516250-179516251	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs72650064	chr2:179516261-179516262	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs536519785	chr2:179516294-179516295	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs544940843	chr2:179516305-179516306	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs183038412	chr2:179516346-179516347	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs376286053	chr2:179516352-179516353	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
23	rs530570377	chr2:179516357-179516358	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
24	rs369987936	chr2:179516364-179516365	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
25	rs550378650	chr2:179516375-179516376	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
26	rs373482203	chr2:179516384-179516385	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
27	rs377259883	chr2:179516399-179516400	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
28	rs370770257	chr2:179516402-179516403	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
29	rs374394719	chr2:179516426-179516427	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs375956503	chr2:179516429-179516430	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs397517556	chr2:179516437-179516438	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs370520319	chr2:179516467-179516468	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs374197702	chr2:179516495-179516496	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs530166666	chr2:179516578-179516579	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
35	rs72650063	chr2:179516580-179516581	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region CpG island	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
36	rs371373940	chr2:179516583-179516584	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
37	rs566794300	chr2:179516615-179516616	Strong transcription Weak transcription Enhancers Genic enhancers	TF binding region CpG island	1 gene(s)	Overlapped CNVs	n/a
38	rs539338428	chr2:179516687-179516688	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs201035457	chr2:179516689-179516690	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs569579388	chr2:179516690-179516691	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs368641171	chr2:179516698-179516699	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs372380420	chr2:179516707-179516708	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs538640121	chr2:179516742-179516743	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs367940697	chr2:179516744-179516745	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs572407357	chr2:179516770-179516771	Strong transcription Weak transcription Enhancers Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs371747911	chr2:179516807-179516808	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs375770526	chr2:179516811-179516812	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs370157162	chr2:179516829-179516830	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs369002632	chr2:179516842-179516843	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs373791597	chr2:179516843-179516844	Strong transcription Weak transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:55)

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
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
Invasive pancreatic ductal carcinoma	16982739	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
Myelofibrosis	22110671	CNVD
Schizophrenia	18923514	CNVD
Schizophrenia	22241247	CNVD
Mental retardation	21062444	CNVD
Facial dysmorphism	20548289	CNVD
Mental retardation	20548289	CNVD
Schizophrenia	19348701	CNVD
Muscular dystrophy	17160897	CNVD
Cardiomyopathy	17576883	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	22522925	CNVD

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179438400-179518200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr2:179479600-179519400	Weak transcription	Fetal Thymus	thymus
3	chr2:179481400-179520000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr2:179483200-179655400	Weak transcription	Adipose Nuclei	Adipose
5	chr2:179493000-179620800	Weak transcription	HSMM	muscle
6	chr2:179496000-179521600	Weak transcription	Fetal Intestine Large	intestine
7	chr2:179497800-179516400	Weak transcription	Primary hematopoietic stem cells	blood
8	chr2:179497800-179518400	Weak transcription	Pancreas	Pancrea
9	chr2:179497800-179530400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr2:179498000-179521000	Weak transcription	Right Ventricle	heart
11	chr2:179501000-179541800	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr2:179501400-179516000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr2:179501600-179516000	Weak transcription	Fetal Muscle Trunk	muscle
14	chr2:179504600-179516000	Weak transcription	Psoas Muscle	Psoas
15	chr2:179508200-179519000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr2:179509000-179518200	Strong transcription	HSMMtube	muscle
17	chr2:179509200-179518000	Strong transcription	Primary T cells from cord blood	blood
18	chr2:179511800-179518400	Strong transcription	Left Ventricle	heart
19	chr2:179513600-179516200	Strong transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:179513600-179516800	Strong transcription	Primary B cells from cord blood	blood
21	chr2:179513600-179518000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr2:179514200-179517800	Strong transcription	Primary T helper cells fromperipheralblood	blood
23	chr2:179514400-179518000	Strong transcription	Primary B cells from peripheral blood	blood
24	chr2:179514400-179528400	Weak transcription	Fetal Heart	heart
25	chr2:179515000-179516200	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr2:179515200-179516000	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr2:179515200-179518000	Strong transcription	Fetal Muscle Leg	muscle
28	chr2:179515600-179518400	Weak transcription	Thymus	Thymus
29	chr2:179516000-179516800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr2:179516000-179516800	Enhancers	Placenta	Placenta
31	chr2:179516000-179518000	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr2:179516000-179518000	Strong transcription	Psoas Muscle	Psoas
33	chr2:179516000-179518200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr2:179516200-179518000	Genic enhancers	Skeletal Muscle Male	skeletal muscle
35	chr2:179516200-179518200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
36	chr2:179516400-179516600	Enhancers	Primary hematopoietic stem cells	blood
37	chr2:179516600-179516800	Enhancers	GM12878-XiMat	blood
38	chr2:179516800-179518600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr2:179516800-179528400	Weak transcription	Primary B cells from cord blood	blood
40	chr2:179517800-179528400	Weak transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:179518000-179528200	Weak transcription	Fetal Muscle Leg	muscle
42	chr2:179518000-179528200	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr2:179518000-179528400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr2:179518000-179529000	Weak transcription	Psoas Muscle	Psoas
45	chr2:179518000-179533400	Weak transcription	Primary T cells from cord blood	blood
46	chr2:179518000-179536000	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr2:179518000-179540200	Weak transcription	Primary B cells from peripheral blood	blood
48	chr2:179518200-179528200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr2:179518200-179528200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:179518200-179528200	Weak transcription	HSMMtube	muscle

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