Variant report

Variant	esv3406913
Chromosome Location	chr7:64268542-64271390
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	BATF	chr7:64268455-64268639	GM12878	blood:	n/a	chr7:64268577-64268588 chr7:64268578-64268588
2	CTCF	chr7:64268604-64268662	GM10266	blood:	n/a	n/a
3	FOSL2	chr7:64268468-64268651	HepG2	liver:	n/a	chr7:64268580-64268590 chr7:64268582-64268589 chr7:64268581-64268590 chr7:64268581-64268589 chr7:64268579-64268591
4	FOXA2	chr7:64269013-64269376	A549	lung:	n/a	n/a
5	GATA3	chr7:64267898-64268637	MCF-7	breast:	n/a	n/a
6	JUND	chr7:64268540-64268744	HepG2	liver:	n/a	chr7:64268580-64268590 chr7:64268582-64268589 chr7:64268581-64268590 chr7:64268581-64268589 chr7:64268579-64268591
7	NR2F2	chr7:64269017-64269367	K562	blood:	n/a	n/a
8	NR2F2	chr7:64268978-64269399	K562	blood:	n/a	n/a
9	PAX5	chr7:64270442-64270783	GM12878	blood:	n/a	n/a
10	PAX5	chr7:64270494-64270732	GM12878	blood:	n/a	n/a
11	PAX5	chr7:64270373-64270866	GM12878	blood:	n/a	n/a
12	POLR2A	chr7:64270603-64270742	A549	lung:	n/a	n/a
13	POLR2A	chr7:64268194-64268786	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr7:64268601-64268623	MCF-7	breast:	n/a	n/a
15	POLR2A	chr7:64270588-64270624	A549	lung:	n/a	n/a
16	POLR2A	chr7:64268497-64268832	K562	blood:	n/a	n/a
17	POLR2A	chr7:64270598-64270713	A549	lung:	n/a	n/a
18	POLR2A	chr7:64270664-64270795	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:64254768..64256856-chr7:64266917..64268683,2	K562	blood:

Variant related genes	Relation type
ZNF138	TF binding region
ENSG00000197008	chromatin interactions

Extended variants
information (count: 136 )
Associated
traits (count: 82 )

Variant overlapped rSNPs/rCNVs (count:136 , 50 per page) page: 1 2 3

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs144394132	chr7:64268556-64268557	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs577663599	chr7:64268559-64268560	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
3	rs147835261	chr7:64268560-64268561	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
4	rs563669516	chr7:64268563-64268564	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
5	rs201454103	chr7:64268583-64268584	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
6	rs113740754	chr7:64268605-64268606	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
7	rs111469131	chr7:64268622-64268623	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
8	rs112448486	chr7:64268640-64268641	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
9	rs200033864	chr7:64268653-64268654	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
10	rs541659585	chr7:64268656-64268657	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
11	rs561922483	chr7:64268660-64268661	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
12	rs201124755	chr7:64268661-64268662	ZNF genes & repeats Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
13	rs527573046	chr7:64268730-64268731	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs547760222	chr7:64268775-64268776	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs570438644	chr7:64268776-64268777	ZNF genes & repeats Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs532823695	chr7:64268827-64268828	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
17	rs200347947	chr7:64268858-64268859	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
18	rs11770219	chr7:64268859-64268860	Weak transcription ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
19	rs189965116	chr7:64268905-64268906	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs535998513	chr7:64268944-64268945	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs199615933	chr7:64268959-64268960	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs142004380	chr7:64268963-64268964	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs10624551	chr7:64268964-64268965	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs77673018	chr7:64268965-64268966	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
25	rs201240333	chr7:64268972-64268973	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs555551584	chr7:64268978-64268979	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs565975211	chr7:64268980-64268981	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs534984469	chr7:64269062-64269063	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
29	rs62456817	chr7:64269093-64269094	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
30	rs577601841	chr7:64269123-64269124	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
31	rs200643008	chr7:64269175-64269176	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
32	rs376813372	chr7:64269176-64269177	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs531681588	chr7:64269192-64269193	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs557376206	chr7:64269217-64269218	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs574057902	chr7:64269240-64269241	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs543145176	chr7:64269244-64269245	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs374958623	chr7:64269279-64269280	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs111938245	chr7:64269353-64269354	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
39	rs62456818	chr7:64269392-64269393	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
40	rs572296945	chr7:64269425-64269426	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
41	rs10255461	chr7:64269440-64269441	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
42	rs113656883	chr7:64269457-64269458	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
43	rs62456819	chr7:64269471-64269472	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
44	rs372814931	chr7:64269497-64269498	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
45	rs186476813	chr7:64269537-64269538	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
46	rs376103382	chr7:64269548-64269549	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
47	rs370681833	chr7:64269568-64269569	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
48	rs182285766	chr7:64269574-64269575	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
49	rs113286578	chr7:64269634-64269635	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
50	rs111986049	chr7:64269648-64269649	Weak transcription	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:82)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Medulloblastoma	21979893	CNVD
Basal cell lymphoma	17170743	CNVD
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
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
Stenocardia	21860640	CNVD
Vasospasm	21860640	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Ewing''s sarcoma	17952124	CNVD
Autism	22495311	CNVD
Follicular lymphoma	20505157	CNVD
Biliary cancer	19435499	CNVD
Williams-beuren syndrome	22470819	CNVD
Acute lymphoblastic leukemia	20067559	CNVD
Multiple myeloma	16461302	CNVD
Glioblastoma multiforme	21750150	CNVD
Cancer	21183584	CNVD
Hepatocellular carcinoma	16750200	CNVD
Non-small cell lung cancer	21829676	CNVD
Gastric cancer	24379144	CNVD
Glioblastoma multiforme	17002787	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Lissencephaly	21572526	CNVD
Breast cancer	17603634	CNVD
Liposarcoma	21253554	CNVD
Breast cancer	16397240	CNVD
Acute myeloid leukemia	16864856	CNVD
Hodgkin''s lymphoma	18641027	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
Glioblastoma	21080181	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
Breast cancer	21990379	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	21399695	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Astrocytoma	22246337	CNVD
Renal cell carcinoma	18592004	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Lung cancer	18438408	CNVD
Breast cancer	21364760	CNVD
Acute monocytic leukemia	16498392	CNVD
Prostate cancer	16461572	CNVD
Salivary gland tumor	18059337	CNVD
Multiple myeloma	17550852	CNVD
Acute myeloid leukemia	21251322	CNVD
small cell lung cancer	20016488	CNVD
Bladder cancer	21909424	CNVD
Non-syndromic sensorineural hearing loss	17122850	CNVD
small cell lung cancer	17426248	CNVD
Williams Syndrome	20824207	CNVD
Cognitive impairment	21505072	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD
Ovarian clear cell carcinoma	21343371	CNVD
Schizophrenia	20967226	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:136 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:64255400-64277200	Weak transcription	Aorta	Aorta
2	chr7:64255800-64272600	Weak transcription	NHLF	lung
3	chr7:64255800-64278800	Weak transcription	Placenta	Placenta
4	chr7:64255800-64293200	Weak transcription	NH-A	brain
5	chr7:64255800-64293400	Weak transcription	Psoas Muscle	Psoas
6	chr7:64256000-64285200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr7:64256000-64294400	Weak transcription	Fetal Kidney	kidney
8	chr7:64256400-64276800	Weak transcription	HMEC	breast
9	chr7:64256800-64269600	Weak transcription	Gastric	stomach
10	chr7:64256800-64277200	Weak transcription	Esophagus	oesophagus
11	chr7:64256800-64277200	Weak transcription	Small Intestine	intestine
12	chr7:64256800-64278800	Weak transcription	Spleen	Spleen
13	chr7:64256800-64283800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr7:64256800-64283800	Weak transcription	Pancreas	Pancrea
15	chr7:64256800-64286200	Weak transcription	Brain Substantia Nigra	brain
16	chr7:64256800-64292200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr7:64257400-64283600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr7:64260200-64277000	Weak transcription	NHEK	skin
19	chr7:64260400-64272400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr7:64260600-64272200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
21	chr7:64260600-64272200	Weak transcription	Ovary	ovary
22	chr7:64260600-64286200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr7:64260600-64288800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr7:64260600-64292400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr7:64260800-64271600	Weak transcription	Adipose Nuclei	Adipose
26	chr7:64260800-64271600	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr7:64260800-64272000	Weak transcription	HSMMtube	muscle
28	chr7:64260800-64277400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:64260800-64284000	Weak transcription	Left Ventricle	heart
30	chr7:64260800-64284400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr7:64260800-64286400	Weak transcription	Rectal Smooth Muscle	rectum
32	chr7:64260800-64288600	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr7:64260800-64291400	Weak transcription	Liver	Liver
34	chr7:64261000-64272000	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr7:64261000-64272200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr7:64261000-64295400	Weak transcription	Osteobl	bone
37	chr7:64262000-64272000	Weak transcription	Primary T helper cells PMA-I stimulated	--
38	chr7:64262400-64277200	Weak transcription	HSMM	muscle
39	chr7:64262800-64291400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:64263200-64271600	Weak transcription	Fetal Lung	lung
41	chr7:64263200-64272200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr7:64263400-64271200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
43	chr7:64263400-64271200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr7:64263400-64271800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr7:64263400-64272200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr7:64263400-64284000	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr7:64263600-64269000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr7:64263800-64269000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
49	chr7:64264000-64271600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr7:64264400-64268800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell

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