Variant report

Variant	esv3391047
Chromosome Location	chr7:129064062-129066576
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CUX1	chr7:129063137-129064454	K562	blood:	n/a	n/a
2	GATA3	chr7:129063221-129064189	MCF-7	breast:	n/a	n/a
3	GATA3	chr7:129063349-129064096	MCF-7	breast:	n/a	n/a
4	GATA3	chr7:129063390-129064073	SK-N-SH	brain:	n/a	n/a
5	NFIC	chr7:129063458-129064122	SK-N-SH	brain:	n/a	chr7:129063733-129063750
6	NR2F2	chr7:129063495-129064062	MCF-7	breast:	n/a	n/a
7	POLR2A	chr7:129066309-129066392	HepG2	liver:	n/a	n/a
8	POLR2A	chr7:129064065-129064214	K562	blood:	n/a	n/a
9	POLR2A	chr7:129065265-129065610	K562	blood:	n/a	n/a
10	SIN3AK20	chr7:129063413-129064074	MCF-7	breast:	n/a	n/a
11	SIN3AK20	chr7:129063334-129064097	MCF-7	breast:	n/a	n/a
12	STAT3	chr7:129064987-129065187	MCF10A-Er-Src	breast:	n/a	n/a
13	TCF12	chr7:129063507-129064071	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:129065998..129067666-chr7:129097989..129099887,2	MCF-7	breast:
2	chr7:129035804..129037354-chr7:129066432..129068615,2	K562	blood:
3	chr7:129063909..129065478-chr7:129065700..129067406,2	MCF-7	breast:
4	chr7:129062616..129064284-chr7:129199417..129201280,2	MCF-7	breast:
5	chr7:129063475..129066777-chr7:129072113..129074429,3	MCF-7	breast:
6	chr7:129061706..129064421-chr7:129072868..129075073,2	MCF-7	breast:
7	chr7:129065900..129068583-chr7:129073786..129076376,2	MCF-7	breast:

No data

Variant related genes	Relation type
AHCYL2	TF binding region
ENSG00000158467	chromatin interactions
ENSG00000128578	chromatin interactions

Extended variants
information (count: 80 )
Associated
traits (count: 76 )

Variant overlapped rSNPs/rCNVs (count:80 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs75327428	chr7:129064066-129064067	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs35521435	chr7:129064067-129064068	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs76399670	chr7:129064069-129064070	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs397790886	chr7:129064083-129064084	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs75413792	chr7:129064086-129064087	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs55673309	chr7:129064098-129064099	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
7	rs80138348	chr7:129064110-129064111	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs549241674	chr7:129064149-129064150	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs549900100	chr7:129064153-129064154	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs567260978	chr7:129064189-129064190	Weak transcription Strong transcription Genic enhancers Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs530983539	chr7:129064201-129064202	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs535457272	chr7:129064207-129064208	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs370026775	chr7:129064239-129064240	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs549678443	chr7:129064240-129064241	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs567882046	chr7:129064243-129064244	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs187540590	chr7:129064253-129064254	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs193205871	chr7:129064419-129064420	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs568922782	chr7:129064423-129064424	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs185639903	chr7:129064434-129064435	Weak transcription Strong transcription Genic enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs112859656	chr7:129064472-129064473	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
21	rs573364989	chr7:129064639-129064640	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs11765864	chr7:129064659-129064660	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs189317822	chr7:129064671-129064672	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs556086177	chr7:129064672-129064673	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs574336046	chr7:129064710-129064711	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs369323782	chr7:129064753-129064754	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs112367573	chr7:129064815-129064816	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs111973759	chr7:129064847-129064848	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs377470431	chr7:129064860-129064861	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs562432913	chr7:129064883-129064884	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs149706364	chr7:129064885-129064886	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs376965211	chr7:129064890-129064891	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
33	rs140208338	chr7:129064927-129064928	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
34	rs371422132	chr7:129064994-129064995	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
35	rs545064800	chr7:129064999-129065000	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
36	rs192245875	chr7:129065059-129065060	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs548814941	chr7:129065070-129065071	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs547091384	chr7:129065086-129065087	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs368185904	chr7:129065123-129065124	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs567130623	chr7:129065134-129065135	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs531463178	chr7:129065172-129065173	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs567298596	chr7:129065225-129065226	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs373740634	chr7:129065234-129065235	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs549681819	chr7:129065267-129065268	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs568884560	chr7:129065268-129065269	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs539478589	chr7:129065288-129065289	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112211768	chr7:129065363-129065364	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs558216855	chr7:129065375-129065376	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs528859393	chr7:129065395-129065396	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs144551968	chr7:129065421-129065422	Weak transcription Strong transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:76)

Disease	PMID	Source
Esophageal squamous carcinoma	21637470	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Thyroid cancer	19087340	CNVD
Seminomas	18059402	CNVD
Testicular cancer	18059402	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Autism	19415332	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
T-cell lymphomas	19863542	CNVD
Malaria	21533027	CNVD
Melanoma	18172304	CNVD
Renal cell carcinoma	19461508	CNVD
head and neck squamous cell carcinoma	19289630	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Wilms tumour	21544195	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Squamous cell cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Astrocytoma	17387387	CNVD
Glioblastoma multiforme	17387387	CNVD
Low-grade fibromyxoid sarcoma	0	CNVD
Oligodendroglial tumors	17285580	CNVD
Endometrial cancer	22040021	CNVD
Burkitt''s lymphoma	18698080	CNVD
Breast cancer	21264507	CNVD
Shwachman-Diamond syndrome	22934832	CNVD
Colorectal cancer	19359472	CNVD
Cutaneous malignant melanoma	17690212	CNVD
Leukemia	17361228	CNVD
Breast cancer	16461572	CNVD
Peripheral t-cell lymphoma	19118030	CNVD
Malignant melanoma	17690212	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Multiple myeloma	17550852	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Neurodevelopmental disorder	22521361	CNVD
abortions and stillbirths	19751515	CNVD
Acute lymphoblastic leukemia	21980252	CNVD
Acute myeloid leukemia	20729466	CNVD
Lung cancer	18438408	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
lymphocytic leukemia	21291569	CNVD
Acute myeloid leukemia	21251322	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Biliary cancer	19435499	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Melanoma	19188590	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Basal cell lymphoma	21115979	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
abnormal development	18461090	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Malignant melanoma	17260012	CNVD
Prostate cancer	18632612	CNVD
Coffin-Siris syndrome	21572526	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Retinitis pigmentosa	17160897	CNVD
Colorblindness	17160897	CNVD
Multiple myeloma	16616336	CNVD
small cell lung cancer	20016488	CNVD
Non-syndromic sensorineural hearing loss	18496225	CNVD
Bladder cancer	21909424	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:129008400-129073200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr7:129016000-129071400	Weak transcription	Small Intestine	intestine
3	chr7:129017400-129069200	Weak transcription	Stomach Mucosa	stomach
4	chr7:129017400-129073000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr7:129017800-129064600	Weak transcription	Fetal Muscle Trunk	muscle
6	chr7:129018400-129070000	Weak transcription	Colon Smooth Muscle	Colon
7	chr7:129019400-129070800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:129019800-129066200	Weak transcription	Thymus	Thymus
9	chr7:129020000-129064600	Weak transcription	Spleen	Spleen
10	chr7:129027800-129070200	Weak transcription	HepG2	liver
11	chr7:129028400-129073000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:129029000-129070000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:129029200-129073200	Weak transcription	Brain Angular Gyrus	brain
14	chr7:129029600-129067400	Weak transcription	Fetal Brain Male	brain
15	chr7:129033800-129073600	Weak transcription	Right Ventricle	heart
16	chr7:129034200-129066200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr7:129035600-129072600	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:129035600-129073600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:129041400-129066200	Weak transcription	Esophagus	oesophagus
20	chr7:129041400-129067000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr7:129041600-129064600	Weak transcription	Lung	lung
22	chr7:129041600-129073400	Weak transcription	HMEC	breast
23	chr7:129041800-129066000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr7:129042000-129066000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr7:129042600-129066200	Weak transcription	Gastric	stomach
26	chr7:129043400-129066400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:129043400-129072600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr7:129046600-129066200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr7:129046600-129066200	Weak transcription	Aorta	Aorta
30	chr7:129046600-129073400	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr7:129047200-129064600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:129048600-129073000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr7:129049600-129064200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr7:129049600-129073400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr7:129052400-129064800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr7:129052600-129068800	Weak transcription	Fetal Kidney	kidney
37	chr7:129052600-129073200	Weak transcription	GM12878-XiMat	blood
38	chr7:129052800-129064400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:129053800-129064200	Weak transcription	Brain Hippocampus Middle	brain
40	chr7:129054000-129064200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:129054000-129064400	Weak transcription	Stomach Smooth Muscle	stomach
42	chr7:129054000-129064600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr7:129054000-129064600	Weak transcription	HSMMtube	muscle
44	chr7:129054000-129069000	Weak transcription	Fetal Lung	lung
45	chr7:129054200-129066000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:129055000-129064200	Weak transcription	Fetal Thymus	thymus
47	chr7:129055000-129066200	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:129055200-129064200	Weak transcription	Primary B cells from peripheral blood	blood
49	chr7:129055200-129064200	Weak transcription	Fetal Brain Female	brain
50	chr7:129057200-129066800	Weak transcription	Fetal Intestine Small	intestine

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