Variant report

Variant	nsv819397
Chromosome Location	chr8:96168255-96177678
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:40)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:40 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:96146537..96149363-chr8:96168744..96170661,2	K562	blood:
2	chr8:96174791..96177726-chr8:96179691..96182819,4	K562	blood:
3	chr8:95905678..95907784-chr8:96168831..96170506,2	K562	blood:
4	chr8:96068974..96069736-chr8:96172085..96172944,4	MCF-7	breast:
5	chr8:96170992..96173678-chr8:96173856..96175498,2	K562	blood:
6	chr8:96161676..96163530-chr8:96176721..96179454,3	MCF-7	breast:
7	chr8:96163910..96166560-chr8:96171762..96173400,2	K562	blood:
8	chr8:96158403..96160639-chr8:96166408..96168467,2	K562	blood:
9	chr8:96164371..96167260-chr8:96168368..96170274,2	MCF-7	breast:
10	chr8:96159139..96162983-chr8:96165859..96168467,3	K562	blood:
11	chr8:96170992..96173678-chr8:96173856..96175498,2	K562	blood:
12	chr8:95958416..95961526-chr8:96166017..96168571,3	MCF-7	breast:
13	chr8:96070557..96072277-chr8:96168044..96170372,2	MCF-7	breast:
14	chr8:96170558..96173425-chr8:96180616..96182555,2	K562	blood:
15	chr8:96176079..96177836-chr8:96178226..96179976,2	MCF-7	breast:
16	chr8:96166764..96169132-chr8:96179225..96180943,2	MCF-7	breast:
17	chr8:96166402..96170248-chr8:96170840..96172689,3	MCF-7	breast:
18	chr8:96086411..96088637-chr8:96175258..96177265,2	MCF-7	breast:
19	chr8:96166819..96169374-chr8:96194693..96197370,2	K562	blood:
20	chr8:96146052..96148037-chr8:96169161..96171314,2	K562	blood:
21	chr8:96079342..96079849-chr8:96171843..96172496,2	MCF-7	breast:
22	chr8:96063931..96065992-chr8:96169093..96171727,2	K562	blood:
23	chr8:96166229..96168914-chr8:96267692..96269921,2	K562	blood:
24	chr8:96161791..96169135-chr8:96169356..96174766,9	MCF-7	breast:
25	chr8:96173200..96176100-chr8:96203502..96205695,2	MCF-7	breast:
26	chr8:96164336..96168740-chr8:96176663..96180885,5	K562	blood:
27	chr8:96171498..96173321-chr8:96177174..96178804,2	K562	blood:
28	chr8:96171786..96172477-chr8:96211697..96212423,2	MCF-7	breast:
29	chr8:96156340..96158297-chr8:96166610..96168384,2	K562	blood:
30	chr8:96167676..96169648-chr8:96260449..96262617,2	MCF-7	breast:
31	chr8:96164336..96168740-chr8:96176663..96180885,5	K562	blood:
32	chr8:96160643..96163475-chr8:96167715..96170557,2	K562	blood:
33	chr8:96166819..96170014-chr8:96194693..96197892,3	K562	blood:
34	chr8:96166402..96170248-chr8:96170840..96172689,3	MCF-7	breast:
35	chr8:96161791..96169135-chr8:96169356..96174766,9	MCF-7	breast:
36	chr8:96166537..96168297-chr8:96201456..96204172,2	MCF-7	breast:
37	chr8:96145309..96147503-chr8:96171057..96172593,2	MCF-7	breast:
38	chr8:96168897..96170558-chr8:96188215..96189760,2	K562	blood:
39	chr8:96171498..96173321-chr8:96177174..96178804,2	K562	blood:
40	chr8:96154262..96156511-chr8:96173163..96174743,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175895	chromatin interactions
ENSG00000175305	chromatin interactions

Extended variants
information (count: 338 )
Associated
traits (count: 108 )

Variant overlapped rSNPs/rCNVs (count:338 , 50 per page) page: 1 2 3 4 5 6 7

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs187074087	chr8:96168256-96168257	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
2	rs143361961	chr8:96168304-96168305	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs542696947	chr8:96168308-96168309	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs556254765	chr8:96168328-96168329	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs575067345	chr8:96168393-96168394	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
6	rs544399218	chr8:96168409-96168410	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs564183976	chr8:96168436-96168437	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
8	rs551435417	chr8:96168460-96168461	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs151301921	chr8:96168487-96168488	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs540207489	chr8:96168579-96168580	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs140525102	chr8:96168604-96168605	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs375426290	chr8:96168626-96168627	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs191520655	chr8:96168654-96168655	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs183636523	chr8:96168671-96168672	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs10099012	chr8:96168740-96168741	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
16	rs188023975	chr8:96168753-96168754	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs531902656	chr8:96168789-96168790	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs551944751	chr8:96168790-96168791	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs563987109	chr8:96168799-96168800	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
20	rs533204305	chr8:96168830-96168831	Weak transcription Strong transcription Genic enhancers Enhancers	n/a	n/a	Overlapped CNVs	n/a
21	rs79037660	chr8:96168839-96168840	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
22	rs547810994	chr8:96168854-96168855	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
23	rs567289470	chr8:96168879-96168880	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs369942275	chr8:96168929-96168930	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs536268951	chr8:96169001-96169002	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs297559	chr8:96169007-96169008	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance
27	rs116970017	chr8:96169079-96169080	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs538796700	chr8:96169099-96169100	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs557928054	chr8:96169151-96169152	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs111836797	chr8:96169153-96169154	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs150489423	chr8:96169172-96169173	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs560468926	chr8:96169184-96169185	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs573648191	chr8:96169263-96169264	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs554538569	chr8:96169286-96169287	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs373533383	chr8:96169288-96169289	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs542657273	chr8:96169333-96169334	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
37	rs576469426	chr8:96169351-96169352	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
38	rs562510413	chr8:96169366-96169367	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
39	rs531433279	chr8:96169433-96169434	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
40	rs551216875	chr8:96169462-96169463	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
41	rs138521334	chr8:96169484-96169485	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
42	rs527897058	chr8:96169595-96169596	Weak transcription Strong transcription Genic enhancers Enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
43	rs142717791	chr8:96169615-96169616	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
44	rs567623292	chr8:96169702-96169703	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
45	rs369898410	chr8:96169705-96169706	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
46	rs536204211	chr8:96169741-96169742	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
47	rs549755202	chr8:96169763-96169764	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
48	rs572395376	chr8:96169768-96169769	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
49	rs569760933	chr8:96169777-96169778	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
50	rs542701768	chr8:96169780-96169781	Weak transcription Strong transcription Genic enhancers	Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:108)

Disease	PMID	Source
Wilms tumour	21544195	CNVD
Gastric cancer	17908304	CNVD
Melanoma	18172304	CNVD
Medulloblastoma	21979893	CNVD
Ewing''s sarcoma	21437220	CNVD
Autism	19415332	CNVD
Malaria	21533027	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Esophageal cancer	21851588	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
Thoracic aortic aneurysm	21092924	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
lymphocytic leukemia	21291569	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	17603634	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Acute myeloid leukemia	20729466	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	CNVD
Cancer	20164919	CNVD
abnormal development	18461090	CNVD
Oral cancer	21386901	CNVD
Uveal melanoma	21693616	CNVD
Langer-Giedion syndrome	22283845	CNVD
Cancer	21637783	CNVD
Splenic marginal zone lymphoma	21957467	CNVD
Breast cancer	20632083	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Hepatocellular carcinoma	22174799	CNVD
Oral cancer	19627613	CNVD
Prostate cancer	21088497	CNVD
colon cancer	17210682	CNVD
Breast cancer	21264507	CNVD
Breast cancer	22028636	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	16751803	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Gastric cancer	17167181	CNVD
Colorectal cancer	19359472	CNVD
Breast cancer	16461572	CNVD
Human rectal carcinomas	16397240	CNVD
Medulloblastoma	16968546	CNVD
head and neck squamous cell carcinoma	18028549	CNVD
Breast cancer	17001317	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Ewing''s sarcoma	17952124	CNVD
Urothelial carcinoma	21177765	CNVD
Lung cancer	18438408	CNVD
Breast cancer	16608533	CNVD
Metanephric adenoma	20802469	CNVD
Hepatocellular carcinoma	18803288	CNVD
Prostate cancer	18632612	CNVD
Glioblastoma multiforme	18628472	CNVD
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	CNVD
Cancer	21949371	CNVD
Non-small cell lung cancer	21829676	CNVD
Multiple myeloma	16461302	CNVD
Myeloproliferative neoplasm	20015882	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Acute myeloid leukemia	21358987	CNVD
Carcinoma ex pleomorphic adenoma	18828159	CNVD
Adenocarcinoma	21044232	CNVD
Squamous cell cancer	20885788	CNVD
T-cell prolymphocytic leukemia	17713554	CNVD
Prostate cancer	16461572	CNVD
Breast cancer	21399628	CNVD
small cell lung cancer	20016488	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Breast cancer	17393978	CNVD
Burkitt''s lymphoma	18698080	CNVD
Non-syndromic sensorineural hearing loss	20606397	CNVD
Bladder cancer	19088036	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
Epilepsy	20502679	CNVD
Acute myeloid leukemia	19651601	CNVD
head and neck squamous cell carcinoma	19451471	CNVD
Renal cell carcinoma	18765545	CNVD
Basal cell lymphoma	17170743	CNVD
Mental retardation	17847001	CNVD
Neuropsychiatric disorder	20069037	CNVD
Colorectal cancer	16774939	CNVD
Autosomal-dominant progressive external ophthalmoplegia	19664747	CNVD
Colorectal cancer	21645411	CNVD
Cutaneous T-cell lymphoma	21881587	CNVD
Malignant fibrous histiocytomas	21085701	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Breast cancer	21611746	CNVD
Breast cancer	17142309	CNVD

Chromatin state (count:286 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:96147200-96172000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:96147800-96172200	Weak transcription	HSMM	muscle
3	chr8:96148400-96171600	Weak transcription	Fetal Stomach	stomach
4	chr8:96150400-96169000	Weak transcription	Fetal Kidney	kidney
5	chr8:96150400-96169000	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:96150400-96179200	Weak transcription	Fetal Lung	lung
7	chr8:96158200-96170800	Weak transcription	Primary hematopoietic stem cells	blood
8	chr8:96161600-96168800	Weak transcription	Cortex derived primary cultured neurospheres	brain
9	chr8:96162400-96172200	Weak transcription	Spleen	Spleen
10	chr8:96162400-96178800	Weak transcription	NH-A	brain
11	chr8:96162800-96171400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr8:96163200-96175400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr8:96163400-96169000	Weak transcription	HMEC	breast
14	chr8:96163600-96171400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr8:96163800-96171000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr8:96164000-96169800	Weak transcription	Fetal Intestine Small	intestine
17	chr8:96164000-96171000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr8:96164200-96171400	Weak transcription	Fetal Muscle Trunk	muscle
19	chr8:96164200-96171600	Weak transcription	Osteobl	bone
20	chr8:96164400-96169200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:96164400-96171200	Weak transcription	Brain Germinal Matrix	brain
22	chr8:96164600-96171800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr8:96164600-96174800	Weak transcription	HUVEC	blood vessel
24	chr8:96164800-96175000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr8:96165000-96171000	Weak transcription	HSMMtube	muscle
26	chr8:96165000-96171800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:96165000-96174600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr8:96165200-96174400	Weak transcription	Dnd41	blood
29	chr8:96165400-96171000	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:96165600-96174600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr8:96165800-96169000	Weak transcription	Adipose Nuclei	Adipose
32	chr8:96165800-96169800	Genic enhancers	Primary B cells from cord blood	blood
33	chr8:96165800-96170400	Weak transcription	Stomach Mucosa	stomach
34	chr8:96165800-96172000	Weak transcription	Aorta	Aorta
35	chr8:96165800-96175000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr8:96166000-96175000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr8:96166400-96169400	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr8:96166400-96169600	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr8:96166400-96169800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:96166400-96170200	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr8:96166600-96169600	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr8:96166600-96169800	Strong transcription	Primary neutrophils fromperipheralblood	blood
43	chr8:96166800-96170000	Strong transcription	Duodenum Mucosa	Duodenum
44	chr8:96166800-96173800	Weak transcription	Rectal Smooth Muscle	rectum
45	chr8:96167000-96168800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr8:96167000-96169000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr8:96167000-96170000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
48	chr8:96167000-96170200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:96167000-96171600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr8:96167000-96171600	Weak transcription	Thymus	Thymus

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