Variant report

Variant	esv3343950
Chromosome Location	chr7:121082741-121084939
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	CTCF	chr7:121084398-121084605	K562	blood:	n/a	n/a
2	CUX1	chr7:121083011-121083211	K562	blood:	n/a	n/a
3	EBF1	chr7:121083032-121083100	GM12878	blood:	n/a	n/a
4	FAM48A	chr7:121084393-121084552	GM12878	blood:	n/a	n/a
5	FOS	chr7:121083030-121083313	MCF10A-Er-Src	breast:	n/a	chr7:121083180-121083190 chr7:121083181-121083189 chr7:121083180-121083190 chr7:121083180-121083190
6	FOS	chr7:121082993-121083310	MCF10A-Er-Src	breast:	n/a	chr7:121083180-121083190 chr7:121083181-121083189 chr7:121083180-121083190 chr7:121083180-121083190
7	FOS	chr7:121083072-121083339	MCF10A-Er-Src	breast:	n/a	chr7:121083180-121083190 chr7:121083181-121083189 chr7:121083180-121083190 chr7:121083180-121083190
8	FOS	chr7:121083006-121083337	MCF10A-Er-Src	breast:	n/a	chr7:121083180-121083190 chr7:121083181-121083189 chr7:121083180-121083190 chr7:121083180-121083190
9	JUND	chr7:121083007-121083267	K562	blood:	n/a	chr7:121083180-121083190 chr7:121083181-121083189 chr7:121083180-121083190 chr7:121083180-121083190
10	MAFK	chr7:121083036-121083266	K562	blood:	n/a	n/a
11	MAFK	chr7:121083052-121083259	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr7:121083977-121084030	HUVEC	blood vessel:	n/a	n/a
13	POLR2A	chr7:121084047-121084078	HUVEC	blood vessel:	n/a	n/a
14	SMC3	chr7:121082969-121083043	GM12878	blood:	n/a	n/a
15	TBL1XR1	chr7:121082944-121083033	K562	blood:	n/a	n/a
16	YY1	chr7:121083042-121083217	HCT-116	colon:	n/a	n/a
17	ZNF384	chr7:121083052-121083230	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:121084438..121087093-chr7:121100657..121102565,2	K562	blood:
2	chr7:121082501..121084474-chr7:121087406..121089640,2	MCF-7	breast:
3	chr7:121084590..121086129-chr7:121087840..121089417,2	K562	blood:
4	chr7:121031207..121033515-chr7:121081375..121082898,2	K562	blood:
5	chr5:43040736..43042911-chr7:121084118..121086879,2	MCF-7	breast:
6	chr7:121082938..121085924-chr7:121112606..121114729,2	K562	blood:
7	chr7:121073008..121075987-chr7:121081368..121083333,2	K562	blood:
8	chr7:121084429..121087093-chr7:121100657..121103964,3	K562	blood:

Variant related genes	Relation type
ENSG00000234985	TF binding region
ENSG00000215068	chromatin interactions

Extended variants
information (count: 101 )
Associated
traits (count: 84 )

Variant overlapped rSNPs/rCNVs (count:101 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs538964801	chr7:121082763-121082764	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs570075335	chr7:121082782-121082783	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs566355231	chr7:121082807-121082808	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs12706348	chr7:121082818-121082819	Enhancers Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
5	rs527775497	chr7:121082821-121082822	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
6	rs569100740	chr7:121082913-121082914	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
7	rs376938169	chr7:121082936-121082937	Enhancers Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs554671985	chr7:121082986-121082987	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
9	rs375451789	chr7:121082988-121082989	Enhancers Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
10	rs147454769	chr7:121083017-121083018	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
11	rs186653220	chr7:121083029-121083030	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
12	rs574487419	chr7:121083039-121083040	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
13	rs539800222	chr7:121083045-121083046	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
14	rs139324265	chr7:121083047-121083048	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
15	rs540100008	chr7:121083074-121083075	Enhancers Weak transcription Bivalent Enhancer	TF binding region	1 gene(s)	Overlapped CNVs	n/a
16	rs199777739	chr7:121083215-121083216	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
17	rs577461115	chr7:121083257-121083258	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
18	rs34561231	chr7:121083296-121083297	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
19	rs546114629	chr7:121083330-121083331	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
20	rs191020304	chr7:121083337-121083338	Weak transcription Enhancers	TF binding region	1 gene(s)	Overlapped CNVs	n/a
21	rs576193462	chr7:121083341-121083342	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
22	rs10240942	chr7:121083425-121083426	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
23	rs561798451	chr7:121083478-121083479	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
24	rs527831268	chr7:121083481-121083482	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
25	rs547465849	chr7:121083504-121083505	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
26	rs183148938	chr7:121083509-121083510	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
27	rs10270571	chr7:121083512-121083513	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
28	rs186669935	chr7:121083513-121083514	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs74207610	chr7:121083533-121083534	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs74217333	chr7:121083541-121083542	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs548409877	chr7:121083556-121083557	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs74204133	chr7:121083562-121083563	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs74200562	chr7:121083570-121083571	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs553475798	chr7:121083584-121083585	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs79555699	chr7:121083591-121083592	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs74213257	chr7:121083599-121083600	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs377511434	chr7:121083628-121083629	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs74213679	chr7:121083852-121083853	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs74212970	chr7:121083881-121083882	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs74194727	chr7:121083889-121083890	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs556398067	chr7:121083903-121083904	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs74212827	chr7:121083910-121083911	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs542014687	chr7:121083915-121083916	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs74193255	chr7:121083918-121083919	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs74202627	chr7:121083939-121083940	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs67303703	chr7:121083947-121083948	Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
47	rs116171174	chr7:121083968-121083969	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs72499550	chr7:121083989-121083990	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
49	rs191125562	chr7:121083994-121083995	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a
50	rs76361998	chr7:121083995-121083996	Weak transcription	TF binding region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:84)

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
Autism	22495311	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
Metanephric adenoma	20802469	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Non-syndromic sensorineural hearing loss	21987784	CNVD
Burkitt''s lymphoma	19759907	CNVD
Myelodysplastic syndrome	21251322	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
Non-small cell lung cancer	21829676	CNVD
Ovarian neoplasms	16753589	CNVD
Prostate cancer	23792589	CNVD
Adenocarcinoma	21044232	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Non-small cell lung cancer	19889201	CNVD
Acute myeloid leukemia	18000384	CNVD
Esophageal adenocarcinoma	18820669	CNVD
Metastatic melanoma	18483359	CNVD
Autism	18414403	CNVD
Autism	19401682	CNVD
Autism	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
Glioblastoma multiforme	21922591	CNVD
Hepatocellular carcinoma	16785998	CNVD
Glioblastoma multiforme	18628472	CNVD
Renal cell carcinoma	18194544	CNVD
Basal cell lymphoma	21115979	CNVD
small cell lung cancer	20016488	CNVD
Breast cancer	21509527	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Myelofibrosis	22110671	CNVD
Splenic marginal zone lymphoma	18492102	CNVD
Barrett''s adenocarcinoma	18663352	CNVD

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121077800-121083000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr7:121078600-121086600	Weak transcription	NHDF-Ad	bronchial
3	chr7:121078800-121082800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:121078800-121082800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr7:121078800-121082800	Weak transcription	HMEC	breast
6	chr7:121078800-121087400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr7:121079000-121082800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:121079000-121082800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:121079000-121082800	Weak transcription	Thymus	Thymus
10	chr7:121079000-121095800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:121079200-121082800	Weak transcription	HUES6 Cell Line	embryonic stem cell
12	chr7:121079200-121082800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr7:121081000-121083200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:121081200-121083000	Weak transcription	Lung	lung
15	chr7:121081200-121083000	Weak transcription	Pancreas	Pancrea
16	chr7:121081200-121086600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:121081200-121088400	Weak transcription	Left Ventricle	heart
18	chr7:121081400-121082800	Weak transcription	Esophagus	oesophagus
19	chr7:121081400-121082800	Weak transcription	Fetal Thymus	thymus
20	chr7:121081400-121083200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
21	chr7:121081400-121086600	Weak transcription	Adipose Nuclei	Adipose
22	chr7:121081400-121088400	Weak transcription	Placenta	Placenta
23	chr7:121081600-121083200	Enhancers	Primary T cells fromperipheralblood	blood
24	chr7:121081600-121083200	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr7:121081600-121086600	Weak transcription	Rectal Smooth Muscle	rectum
26	chr7:121081800-121082800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:121081800-121082800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:121081800-121086200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr7:121082400-121083200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
30	chr7:121082600-121083000	Enhancers	Primary T killer memory cells from peripheral blood	blood
31	chr7:121082600-121083200	Enhancers	Primary T helper naive cells from peripheral blood	blood
32	chr7:121082600-121083200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr7:121082800-121083000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr7:121082800-121083200	Enhancers	ES-I3 Cell Line	embryonic stem cell
35	chr7:121082800-121083200	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr7:121082800-121083200	Enhancers	HUES64 Cell Line	embryonic stem cell
37	chr7:121082800-121083200	Enhancers	iPS-15b Cell Line	embryonic stem cell
38	chr7:121082800-121083200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:121082800-121083200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr7:121082800-121083200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:121082800-121083200	Enhancers	Esophagus	oesophagus
42	chr7:121082800-121083200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr7:121082800-121083200	Enhancers	Fetal Thymus	thymus
44	chr7:121082800-121083200	Enhancers	Hela-S3	cervix
45	chr7:121082800-121083200	Enhancers	NHEK	skin
46	chr7:121082800-121083400	Enhancers	HMEC	breast
47	chr7:121083000-121083200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:121083000-121083200	Enhancers	Pancreas	Pancrea
49	chr7:121083000-121083200	Enhancers	Thymus	Thymus
50	chr7:121083000-121083200	Bivalent Enhancer	K562	blood

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