Variant report

Variant	esv1002693
Chromosome Location	chr2:179357045-179365143
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr2:179362759-179363188	K562	blood:	n/a	n/a
2	ATF1	chr2:179362905-179363251	K562	blood:	n/a	n/a
3	CCNT2	chr2:179362972-179363069	K562	blood:	n/a	chr2:179363011-179363031
4	CEBPB	chr2:179362981-179363232	K562	blood:	n/a	n/a
5	CEBPD	chr2:179362754-179363302	K562	blood:	n/a	n/a
6	CEBPD	chr2:179362766-179363295	K562	blood:	n/a	n/a
7	CTCF	chr2:179361125-179361200	LNCaP	prostate:	n/a	chr2:179361131-179361152
8	CTCF	chr2:179361097-179361191	LNCaP	prostate:	n/a	chr2:179361131-179361152
9	CTCF	chr2:179361008-179361248	GM12878	blood:	n/a	chr2:179361131-179361152
10	CTCF	chr2:179361104-179361200	Pancreas_OC	pancreas:	n/a	chr2:179361131-179361152
11	EP300	chr2:179362858-179363312	K562	blood:	n/a	n/a
12	EP300	chr2:179362865-179363144	K562	blood:	n/a	n/a
13	GATA1	chr2:179362714-179363655	PBDE	blood:	n/a	chr2:179363016-179363023 chr2:179363014-179363031 chr2:179363009-179363025
14	GATA2	chr2:179362720-179363292	K562	blood:	n/a	chr2:179363016-179363023 chr2:179363014-179363031 chr2:179363009-179363025
15	GATA3	chr2:179362955-179363072	SH-SY5Y	brain:	n/a	chr2:179363016-179363023 chr2:179363014-179363031 chr2:179363009-179363025
16	IRF1	chr2:179363584-179363588	K562	blood:	n/a	n/a
17	IRF1	chr2:179362858-179363269	K562	blood:	n/a	n/a
18	JUN	chr2:179364534-179364890	K562	blood:	n/a	n/a
19	JUN	chr2:179358294-179358333	HepG2	liver:	n/a	n/a
20	JUN	chr2:179362900-179363320	K562	blood:	n/a	n/a
21	JUND	chr2:179362864-179363260	K562	blood:	n/a	n/a
22	MAFK	chr2:179360989-179361270	HepG2	liver:	n/a	chr2:179361149-179361163 chr2:179361146-179361166 chr2:179361148-179361164 chr2:179361151-179361166
23	MAFK	chr2:179360977-179361300	HepG2	liver:	n/a	chr2:179361149-179361163 chr2:179361146-179361166 chr2:179361148-179361164 chr2:179361151-179361166
24	MEF2A	chr2:179362827-179363374	K562	blood:	n/a	chr2:179363102-179363116 chr2:179363101-179363116
25	MEF2A	chr2:179362885-179363219	GM12878	blood:	n/a	chr2:179363102-179363116 chr2:179363101-179363116
26	MEF2A	chr2:179362830-179363315	K562	blood:	n/a	chr2:179363102-179363116 chr2:179363101-179363116
27	PML	chr2:179362723-179363252	K562	blood:	n/a	n/a
28	POLR2A	chr2:179358525-179358677	GM12891	blood:	n/a	n/a
29	POLR2A	chr2:179358391-179358528	GM12878	blood:	n/a	n/a
30	POLR2A	chr2:179358223-179358402	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr2:179358516-179358699	GM12891	blood:	n/a	n/a
32	RCOR1	chr2:179362813-179363210	K562	blood:	n/a	n/a
33	RCOR1	chr2:179358961-179358982	K562	blood:	n/a	n/a
34	RFX5	chr2:179362993-179363253	K562	blood:	n/a	chr2:179363022-179363038
35	SPI1	chr2:179358514-179358708	GM12878	blood:	n/a	n/a
36	SPI1	chr2:179358493-179358736	GM12891	blood:	n/a	n/a
37	SPI1	chr2:179358511-179358772	GM12891	blood:	n/a	n/a
38	SPI1	chr2:179358535-179358658	GM12878	blood:	n/a	n/a
39	STAT3	chr2:179357754-179357815	MCF10A-Er-Src	breast:	n/a	n/a
40	STAT5A	chr2:179362789-179363247	K562	blood:	n/a	n/a
41	TAL1	chr2:179362844-179363221	K562	blood:	n/a	chr2:179363013-179363031 chr2:179363014-179363029
42	TBL1XR1	chr2:179362897-179363230	K562	blood:	n/a	n/a
43	TEAD4	chr2:179362721-179363293	K562	blood:	n/a	n/a
44	TEAD4	chr2:179362774-179363245	K562	blood:	n/a	n/a
45	UBTF	chr2:179362904-179363241	K562	blood:	n/a	n/a
46	ZC3H11A	chr2:179362878-179363060	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:179355382..179358080-chr2:179358228..179361281,3	K562	blood:
2	chr2:179359085..179362406-chr2:179364736..179367288,3	MCF-7	breast:
3	chr2:179355494..179357209-chr2:179364839..179367204,2	MCF-7	breast:
4	chr2:179363873..179366209-chr2:179372272..179375268,2	K562	blood:
5	chr2:179356121..179358654-chr2:179491189..179492895,2	K562	blood:
6	chr2:179344657..179347243-chr2:179363340..179365142,2	K562	blood:
7	chr2:179364022..179368835-chr2:179377215..179381031,4	K562	blood:
8	chr2:179356489..179359180-chr2:179374513..179376046,2	K562	blood:
9	chr2:179341915..179343963-chr2:179361012..179363425,2	K562	blood:
10	chr2:179354662..179357562-chr2:179362398..179365537,4	K562	blood:
11	chr2:179363500..179366373-chr2:179369825..179372211,3	K562	blood:
12	chr2:179362528..179364837-chr2:179381836..179383554,2	K562	blood:
13	chr2:179355494..179357209-chr2:179364839..179367204,2	MCF-7	breast:
14	chr2:179361307..179367061-chr2:179369825..179374602,5	K562	blood:
15	chr2:179343890..179346879-chr2:179363600..179365573,2	MCF-7	breast:
16	chr2:179354662..179357562-chr2:179362398..179365537,4	K562	blood:

Variant related genes	Relation type
PLEKHA3	TF binding region
ENSG00000079150	chromatin interactions
ENSG00000116095	chromatin interactions

Extended variants
information (count: 270 )
Associated
traits (count: 56 )

Variant overlapped rSNPs/rCNVs (count:270 , 50 per page) page: 1 2 3 4 5 6

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs550149233	chr2:179357113-179357114	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs182541003	chr2:179357146-179357147	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs187718576	chr2:179357166-179357167	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs374270096	chr2:179357193-179357194	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs147415789	chr2:179357198-179357199	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs567678321	chr2:179357202-179357203	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs549463102	chr2:179357212-179357213	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs553646920	chr2:179357227-179357228	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs576765682	chr2:179357235-179357236	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs33998881	chr2:179357251-179357252	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
11	rs112775999	chr2:179357276-179357277	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs576204671	chr2:179357281-179357282	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs541926323	chr2:179357288-179357289	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
14	rs562175237	chr2:179357290-179357291	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
15	rs7593189	chr2:179357295-179357296	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
16	rs541485913	chr2:179357302-179357303	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
17	rs564760931	chr2:179357313-179357314	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
18	rs190794705	chr2:179357343-179357344	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
19	rs545661982	chr2:179357356-179357357	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
20	rs200937106	chr2:179357357-179357358	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs397873474	chr2:179357370-179357371	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs73036332	chr2:179357382-179357383	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs563704262	chr2:179357428-179357429	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs183154185	chr2:179357466-179357467	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs373836740	chr2:179357496-179357497	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs575555513	chr2:179357517-179357518	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs187826610	chr2:179357682-179357683	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs192037801	chr2:179357685-179357686	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs149054788	chr2:179357704-179357705	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs73973120	chr2:179357724-179357725	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs184442337	chr2:179357735-179357736	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs371068484	chr2:179357787-179357788	Weak transcription Strong transcription	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs547021421	chr2:179357834-179357835	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs60488846	chr2:179357842-179357843	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
35	rs539323960	chr2:179357933-179357934	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs16866342	chr2:179357938-179357939	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
37	rs576118396	chr2:179357996-179357997	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs142075469	chr2:179358040-179358041	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs186967192	chr2:179358056-179358057	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs577882221	chr2:179358168-179358169	Weak transcription Strong transcription Genic enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs12613131	chr2:179358186-179358187	Weak transcription Strong transcription Genic enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
42	rs151141828	chr2:179358228-179358229	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
43	rs561526663	chr2:179358232-179358233	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
44	rs6748202	chr2:179358337-179358338	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
45	rs577987857	chr2:179358386-179358387	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
46	rs543717009	chr2:179358481-179358482	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
47	rs78166316	chr2:179358524-179358525	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
48	rs372936161	chr2:179358570-179358571	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs113614512	chr2:179358587-179358588	Weak transcription Strong transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs529460745	chr2:179358629-179358630	Weak transcription Strong transcription Genic enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:56)

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
Non-syndromic sensorineural hearing loss	17122850	CNVD

Chromatin state (count:360 , 50 per page) page: 1 2 3 4 5 6 7 8

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:179346400-179358600	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr2:179346400-179387800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr2:179346600-179358600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr2:179347200-179358600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr2:179347200-179358600	Weak transcription	NHEK	skin
6	chr2:179347200-179358800	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr2:179347400-179363000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:179347400-179369400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr2:179347600-179358400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr2:179347600-179358600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:179347600-179371000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr2:179349600-179358600	Weak transcription	Esophagus	oesophagus
13	chr2:179349600-179361200	Strong transcription	Primary T cells from cord blood	blood
14	chr2:179349800-179357400	Weak transcription	HUVEC	blood vessel
15	chr2:179349800-179358600	Weak transcription	Brain Angular Gyrus	brain
16	chr2:179349800-179358600	Weak transcription	Gastric	stomach
17	chr2:179349800-179360400	Weak transcription	Fetal Heart	heart
18	chr2:179349800-179364200	Weak transcription	Hela-S3	cervix
19	chr2:179350000-179358600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr2:179350200-179358200	Weak transcription	Stomach Mucosa	stomach
21	chr2:179350200-179358400	Weak transcription	Right Atrium	heart
22	chr2:179350200-179358600	Weak transcription	Pancreas	Pancrea
23	chr2:179350200-179358800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr2:179350200-179358800	Weak transcription	Small Intestine	intestine
25	chr2:179350400-179358800	Weak transcription	Colon Smooth Muscle	Colon
26	chr2:179350400-179364200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:179350400-179371600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr2:179350400-179371600	Strong transcription	Dnd41	blood
29	chr2:179350400-179372400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr2:179350400-179372400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr2:179350400-179384400	Strong transcription	Monocytes-CD14+_RO01746	blood
32	chr2:179350600-179371200	Strong transcription	Duodenum Mucosa	Duodenum
33	chr2:179350600-179372200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr2:179350800-179370600	Strong transcription	Primary T helper cells fromperipheralblood	blood
35	chr2:179350800-179371600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:179350800-179372000	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr2:179350800-179372000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:179351000-179368800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
39	chr2:179352000-179357200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr2:179352000-179358800	Weak transcription	Fetal Brain Male	brain
41	chr2:179352400-179360800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr2:179352600-179357400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr2:179352800-179372200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr2:179353000-179361800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr2:179353400-179369000	Strong transcription	Primary T helper cells PMA-I stimulated	--
46	chr2:179353600-179371600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr2:179353800-179368400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr2:179354000-179361200	Strong transcription	Fetal Lung	lung
49	chr2:179354000-179362600	Strong transcription	HepG2	liver
50	chr2:179354000-179371600	Strong transcription	Primary neutrophils fromperipheralblood	blood

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