Variant report

Variant	nsv1034249
Chromosome Location	chr7:111656902-111748774
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:80)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:80 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr7:111648763..111650835-chr7:111713942..111716550,2	K562	blood:
2	chr7:111654679..111656709-chr7:111671878..111674292,2	MCF-7	breast:
3	chr7:111683205..111686070-chr7:111696191..111697758,2	K562	blood:
4	chr7:111662019..111663825-chr7:111665040..111667172,2	K562	blood:
5	chr7:111744902..111746458-chr7:111746527..111748789,2	MCF-7	breast:
6	chr7:111696985..111699973-chr7:111702426..111704136,2	K562	blood:
7	chr20:52529863..52532284-chr7:111681323..111683323,2	MCF-7	breast:
8	chr7:111666586..111668411-chr7:111669548..111671615,2	K562	blood:
9	chr7:111635442..111637426-chr7:111724707..111726732,2	MCF-7	breast:
10	chr7:111653117..111655730-chr7:111674679..111677123,2	K562	blood:
11	chr7:111662127..111663825-chr7:111665482..111667172,2	K562	blood:
12	chr7:111662127..111663825-chr7:111665482..111667172,2	K562	blood:
13	chr7:111657467..111660599-chr7:111663952..111668324,4	K562	blood:
14	chr7:111721035..111722609-chr7:112204033..112205588,2	MCF-7	breast:
15	chr7:111744902..111746458-chr7:111746527..111748789,2	MCF-7	breast:
16	chr7:111727653..111730337-chr7:111737903..111739641,2	K562	blood:
17	chr7:111639475..111641476-chr7:111655041..111657241,2	MCF-7	breast:
18	chr7:111719751..111721639-chr7:111721753..111724570,2	K562	blood:
19	chr7:111724902..111725864-chr7:111800272..111801112,3	MCF-7	breast:
20	chr7:111727544..111730183-chr7:111730698..111732624,2	MCF-7	breast:
21	chr7:111727653..111730337-chr7:111737903..111739641,2	K562	blood:
22	chr7:111662019..111663825-chr7:111665040..111667172,2	K562	blood:
23	chr7:111724807..111725877-chr7:111784018..111785083,11	MCF-7	breast:
24	chr7:111725319..111725839-chr7:111784610..111785137,2	MCF-7	breast:
25	chr7:111726283..111728436-chr7:111728606..111730234,2	MCF-7	breast:
26	chr7:111718019..111719728-chr7:111726986..111728960,2	MCF-7	breast:
27	chr7:111667061..111669402-chr7:111698388..111701090,2	K562	blood:
28	chr7:111701489..111703722-chr7:111708917..111711831,2	MCF-7	breast:
29	chr7:111683205..111686070-chr7:111696191..111697758,2	K562	blood:
30	chr7:111706366..111708870-chr7:111719748..111721379,2	K562	blood:
31	chr7:111679099..111681078-chr7:111697466..111700106,2	MCF-7	breast:
32	chr7:111673451..111677355-chr7:111678241..111682927,4	MCF-7	breast:
33	chr7:111724914..111725707-chr7:111777452..111778442,2	MCF-7	breast:
34	chr7:111719561..111720111-chr7:112051016..112051524,2	MCF-7	breast:
35	chr7:111719879..111722087-chr7:111722721..111725922,3	MCF-7	breast:
36	chr7:111705385..111707110-chr7:111712714..111715574,2	MCF-7	breast:
37	chr7:111730398..111731930-chr7:111732566..111734324,2	MCF-7	breast:
38	chr7:111666586..111669404-chr7:111670098..111671615,2	K562	blood:
39	chr7:111711136..111713687-chr7:111723265..111726073,2	MCF-7	breast:
40	chr7:111739006..111741614-chr7:111745042..111747741,2	K562	blood:
41	chr7:111726283..111728436-chr7:111728606..111730234,2	MCF-7	breast:
42	chr7:111679099..111681078-chr7:111697466..111700106,2	MCF-7	breast:
43	chr7:111724807..111725873-chr7:111784185..111785009,6	MCF-7	breast:
44	chr7:111706366..111708870-chr7:111719748..111721379,2	K562	blood:
45	chr7:111667061..111669402-chr7:111698388..111701090,2	K562	blood:
46	chr7:111725644..111728326-chr7:111730288..111732992,2	K562	blood:
47	chr7:111658895..111662375-chr7:111662426..111664044,3	MCF-7	breast:
48	chr7:111718019..111719728-chr7:111726986..111728960,2	MCF-7	breast:
49	chr7:111705385..111707110-chr7:111712714..111715574,2	MCF-7	breast:
50	chr7:111666586..111669404-chr7:111670098..111671615,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000198839	chromatin interactions
ENSG00000128512	chromatin interactions
ENSG00000006652	chromatin interactions

Extended variants
information (count: 3397 )
Associated
traits (count: 91 )

Variant overlapped rSNPs/rCNVs (count:3397 , 50 per page) page: 1 2 3 4 5 6 7 ... 68

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs566703477	chr7:111657006-111657007	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
2	rs576782460	chr7:111657009-111657010	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
3	rs116286249	chr7:111657047-111657048	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
4	rs147515878	chr7:111657059-111657060	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
5	rs535740568	chr7:111657072-111657073	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
6	rs192034892	chr7:111657086-111657087	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
7	rs184963413	chr7:111657128-111657129	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
8	rs369884468	chr7:111657167-111657168	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
9	rs374306999	chr7:111657281-111657282	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
10	rs187734100	chr7:111657302-111657303	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
11	rs191451179	chr7:111657350-111657351	Weak transcription	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
12	rs537730699	chr7:111657430-111657431	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
13	rs558662070	chr7:111657445-111657446	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
14	rs549788582	chr7:111657465-111657466	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
15	rs140112507	chr7:111657471-111657472	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
16	rs568358577	chr7:111657474-111657475	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs115787465	chr7:111657486-111657487	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs553986597	chr7:111657517-111657518	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs61093895	chr7:111657530-111657531	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
20	rs184344958	chr7:111657565-111657566	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs558349695	chr7:111657668-111657669	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs576875332	chr7:111657677-111657678	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs369480616	chr7:111657783-111657784	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
24	rs544249207	chr7:111657791-111657792	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs59049326	chr7:111657811-111657812	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
26	rs544108971	chr7:111657832-111657833	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
27	rs35404435	chr7:111657842-111657843	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs374871318	chr7:111657895-111657896	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs140486166	chr7:111657905-111657906	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
30	rs562543950	chr7:111657962-111657963	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
31	rs574357461	chr7:111658011-111658012	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs541761761	chr7:111658068-111658069	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs367647657	chr7:111658074-111658075	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs527349251	chr7:111658100-111658101	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs190012430	chr7:111658119-111658120	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs371436729	chr7:111658158-111658159	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs151073760	chr7:111658180-111658181	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs6466394	chr7:111658182-111658183	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs59200494	chr7:111658212-111658213	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs58337958	chr7:111658222-111658223	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs557318565	chr7:111658225-111658226	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs367569851	chr7:111658230-111658231	Weak transcription Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs576488164	chr7:111658231-111658232	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs201040126	chr7:111658232-111658233	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs543850954	chr7:111658233-111658234	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs59430725	chr7:111658234-111658235	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs568306942	chr7:111658239-111658240	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs6966580	chr7:111658259-111658260	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs181228164	chr7:111658274-111658275	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs566057064	chr7:111658357-111658358	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:91)

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
Acute myeloid leukemia	16864856	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
Acute myeloid leukemia	21251322	CNVD
Breast cancer	21785460	CNVD
Chronic myeloid leukemia	21384125	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	22237106	CNVD
Breast cancer	21364760	CNVD
lymphocytic leukemia	21291569	CNVD
Basal cell lymphoma	17053054	CNVD
Prostate cancer	16573809	CNVD
Medulloblastoma	16783165	CNVD
Myelofibrosis	22110671	CNVD
Squamous cell cancer	20885788	CNVD
T-cell acute lymphoblastic leukemia	19406988	CNVD
Breast cancer	16397240	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
Autism	19401682	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	19546859	CNVD
Schizophrenia	19546859	CNVD
Tourette syndrome	19546859	CNVD
Melanoma	19188590	CNVD
small cell lung cancer	20016488	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Glioblastoma multiforme	20824129	CNVD
Glioma	20126413	CNVD
Cancer	20164919	CNVD
Breast cancer	22522925	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Pancreatic cancer	17952125	CNVD
T-cell lymphomas	22341440	CNVD
Non-syndromic sensorineural hearing loss	21293372	CNVD

Chromatin state (count:1426 , 50 per page) page: 1 2 3 4 5 6 7 ... 29

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:111632800-111662000	Weak transcription	Colon Smooth Muscle	Colon
2	chr7:111647200-111666400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:111649400-111673800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr7:111649800-111662200	Weak transcription	NHLF	lung
5	chr7:111651400-111657600	Weak transcription	Lung	lung
6	chr7:111651400-111657600	Weak transcription	Psoas Muscle	Psoas
7	chr7:111651400-111657600	Weak transcription	Spleen	Spleen
8	chr7:111651400-111657800	Weak transcription	Adipose Nuclei	Adipose
9	chr7:111651400-111668200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr7:111652000-111661400	Weak transcription	Fetal Intestine Large	intestine
11	chr7:111652200-111657600	Weak transcription	Right Atrium	heart
12	chr7:111652200-111661000	Weak transcription	Left Ventricle	heart
13	chr7:111652600-111657600	Weak transcription	Fetal Lung	lung
14	chr7:111652600-111657800	Weak transcription	Brain Angular Gyrus	brain
15	chr7:111652600-111665400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr7:111653200-111657400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr7:111653800-111657600	Weak transcription	Ovary	ovary
18	chr7:111653800-111657800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:111654000-111657600	Weak transcription	Liver	Liver
20	chr7:111654000-111657600	Weak transcription	Right Ventricle	heart
21	chr7:111654600-111673400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr7:111655600-111658600	Weak transcription	Brain Hippocampus Middle	brain
23	chr7:111656000-111658600	Weak transcription	Brain Substantia Nigra	brain
24	chr7:111656000-111662200	Weak transcription	Brain Anterior Caudate	brain
25	chr7:111657400-111658000	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr7:111657600-111657800	Enhancers	Liver	Liver
27	chr7:111657600-111658000	Enhancers	Lung	lung
28	chr7:111657600-111658000	Enhancers	Psoas Muscle	Psoas
29	chr7:111657600-111658000	Enhancers	Right Atrium	heart
30	chr7:111657600-111658000	Enhancers	Right Ventricle	heart
31	chr7:111657600-111658200	Enhancers	Fetal Lung	lung
32	chr7:111657600-111658200	Enhancers	Ovary	ovary
33	chr7:111657600-111659200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr7:111657800-111658200	Weak transcription	Liver	Liver
35	chr7:111657800-111658800	Enhancers	Brain Cingulate Gyrus	brain
36	chr7:111657800-111659200	Enhancers	Brain Angular Gyrus	brain
37	chr7:111657800-111659400	Enhancers	Adipose Nuclei	Adipose
38	chr7:111657800-111660200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr7:111658000-111658400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr7:111658000-111659000	Weak transcription	Right Ventricle	heart
41	chr7:111658000-111660200	Weak transcription	Right Atrium	heart
42	chr7:111658000-111662400	Weak transcription	Lung	lung
43	chr7:111658000-111665400	Weak transcription	Psoas Muscle	Psoas
44	chr7:111658200-111658600	Weak transcription	Fetal Lung	lung
45	chr7:111658200-111660000	Weak transcription	Ovary	ovary
46	chr7:111658200-111661200	Enhancers	Liver	Liver
47	chr7:111658400-111658600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr7:111658400-111658600	Enhancers	Brain Inferior Temporal Lobe	brain
49	chr7:111658600-111659200	Enhancers	Brain Hippocampus Middle	brain
50	chr7:111658600-111659400	Enhancers	Fetal Lung	lung

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