Variant report

Variant	esv3527194
Chromosome Location	chr8:126594370-126602043
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126440732..126445779-chr8:126600349..126612045,20	MCF-7	breast:
2	chr8:126442143..126446665-chr8:126589959..126594389,6	MCF-7	breast:
3	chr8:126590849..126591449-chr8:126602043..126602895,2	MCF-7	breast:
4	chr8:126593358..126595719-chr8:126599796..126603386,4	K562	blood:
5	chr8:126441094..126445421-chr8:126601055..126606149,10	MCF-7	breast:
6	chr8:126441876..126443821-chr8:126595052..126596590,2	MCF-7	breast:
7	chr8:126591683..126594528-chr8:126604953..126606548,2	K562	blood:
8	chr8:126593622..126595846-chr8:126610575..126612204,2	MCF-7	breast:
9	chr8:126588355..126592631-chr8:126600736..126604091,3	MCF-7	breast:
10	chr8:126586635..126589036-chr8:126593188..126594968,2	MCF-7	breast:
11	chr8:126592991..126596537-chr8:126599819..126603670,10	MCF-7	breast:
12	chr8:126583666..126586593-chr8:126600715..126602513,2	MCF-7	breast:
13	chr8:126593642..126596532-chr8:126599701..126606279,16	MCF-7	breast:
14	chr8:126550463..126552355-chr8:126601119..126603239,2	MCF-7	breast:
15	chr8:126585008..126593535-chr8:126599853..126611131,18	MCF-7	breast:
16	chr8:126446451..126446990-chr8:126594852..126595545,2	MCF-7	breast:
17	chr8:126242654..126243238-chr8:126601971..126602543,2	MCF-7	breast:
18	chr8:126601003..126603272-chr8:126603536..126606567,4	MCF-7	breast:
19	chr8:126592991..126596537-chr8:126599819..126603670,10	MCF-7	breast:
20	chr8:126592961..126594666-chr8:126603938..126605486,2	MCF-7	breast:
21	chr8:126588899..126591050-chr8:126592630..126595542,2	MCF-7	breast:
22	chr8:126601013..126605207-chr8:126607092..126609721,3	MCF-7	breast:
23	chr8:126593642..126596532-chr8:126599701..126606279,16	MCF-7	breast:
24	chr8:126593358..126595719-chr8:126599796..126603386,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173334	chromatin interactions

Extended variants
information (count: 81 )
Associated
traits (count: 141 )

Variant overlapped rSNPs/rCNVs (count:81 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs534803593	chr8:126594383-126594384	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
2	rs552088232	chr8:126594396-126594397	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
3	rs182167983	chr8:126594399-126594400	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
4	rs577984343	chr8:126594423-126594424	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
5	rs111643447	chr8:126594432-126594433	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
6	rs530994004	chr8:126594481-126594482	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
7	rs551234705	chr8:126594612-126594613	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
8	rs369277228	chr8:126594614-126594615	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
9	rs533008872	chr8:126594623-126594624	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
10	rs187935306	chr8:126594639-126594640	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
11	rs556653433	chr8:126594641-126594642	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
12	rs368506617	chr8:126594667-126594668	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
13	rs115958368	chr8:126594698-126594699	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
14	rs548994143	chr8:126594706-126594707	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
15	rs140967755	chr8:126594707-126594708	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
16	rs7016867	chr8:126594738-126594739	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
17	rs376507194	chr8:126594740-126594741	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
18	rs534244405	chr8:126594753-126594754	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
19	rs116734979	chr8:126594754-126594755	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
20	rs200121594	chr8:126594765-126594766	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
21	rs539513530	chr8:126594770-126594771	Enhancers ZNF genes & repeats Weak transcription	n/a	n/a	Overlapped CNVs	n/a
22	rs77499418	chr8:126594831-126594832	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription	n/a	n/a	Overlapped CNVs	n/a
23	rs573133314	chr8:126595068-126595069	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
24	rs117657198	chr8:126595069-126595070	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
25	rs192404565	chr8:126595130-126595131	Weak transcription Flanking Active TSS Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
26	rs112683398	chr8:126595239-126595240	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
27	rs62523921	chr8:126595331-126595332	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
28	rs201071406	chr8:126595406-126595407	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
29	rs62523922	chr8:126595442-126595443	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
30	rs201319670	chr8:126595561-126595562	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
31	rs568028806	chr8:126596513-126596514	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
32	rs562232830	chr8:126596791-126596792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
33	rs200095591	chr8:126597519-126597520	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
34	rs577352475	chr8:126598044-126598045	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
35	rs200914479	chr8:126598609-126598610	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
36	rs201749774	chr8:126599791-126599792	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
37	rs112550831	chr8:126599838-126599839	Weak transcription	n/a	n/a	Overlapped CNVs	n/a
38	rs200274152	chr8:126600787-126600788	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs112641307	chr8:126601134-126601135	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs576052427	chr8:126601157-126601158	Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs544923012	chr8:126601203-126601204	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs564638584	chr8:126601276-126601277	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs183800125	chr8:126601338-126601339	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs59985895	chr8:126601356-126601357	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs144822821	chr8:126601428-126601429	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs11986981	chr8:126601431-126601432	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs3110710	chr8:126601453-126601454	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs192919102	chr8:126601497-126601498	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs549010217	chr8:126601519-126601520	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs1006998	chr8:126601540-126601541	ZNF genes & repeats Weak transcription	Chromatin interactive region	1 gene(s)	LD-proxies of rSNP Overlapped rCNV	mRNA abundance

Variant related diseases (count:141)

Disease	PMID	Source
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
Gastric cancer	17908304	CNVD
Acute promyelocytic leukemia	19109227	CNVD
Breast cancer	21245420	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Liver carcinoma	19366792	CNVD
Seminomas	18059402	CNVD
Acute lymphoblastic leukemia	21390130	CNVD
Pancreatic cancer	21811587	CNVD
Thyroid cancer	19087340	CNVD
Myelofibrosis	22110671	CNVD
Testicular cancer	18059402	CNVD
Breast cancer	17133270	CNVD
Breast cancer	21509527	CNVD
Breast cancer	21858162	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	21248843	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	17603634	CNVD
Breast cancer	19602461	CNVD
Cancer	22429812	CNVD
Endometrial cancer	22040021	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Glioblastoma multiforme	19960244	CNVD
Glioblastoma multiforme	21080181	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
Acute myeloid leukemia	20729466	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
Ovarian cancer	22174824	CNVD
Prostate cancer	16573809	CNVD
Malignant peripheral nerve sheath tumor	18522746	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
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
Breast cancer	17899364	CNVD
Acute myeloid leukemia	21251322	CNVD
lymphocytic leukemia	21291569	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Developmental delay	21147756	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Congenital diaphragmatic hernia	21525063	CNVD
Non-small cell lung cancer	19010865	CNVD
small cell lung cancer	20016488	CNVD
Papillary thyroid cancer	17515504	CNVD
Basal cell lymphoma	17053054	CNVD
Breast cancer	20932292	CNVD
Gastric cancer	22539939	CNVD
Breast cancer	22056952	CNVD
Langer-Giedion syndrome	16773131	CNVD
Lung cancer	16740712	CNVD
Mental retardation	16773131	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Langer-Giedion syndrome	22470819	CNVD
Cornelia de Lange syndrome	24599119	CNVD
Gastric cancer	21528007	CNVD
Breast cancer	22532251	CNVD
Cervical cancer	21062161	CNVD
Cancer	21129771	CNVD
benign familial neonatal convulsions	18472482	CNVD
Breast cancer	16417655	CNVD
Astrocytoma	17387387	CNVD
Cancer	21183584	CNVD
Follicular lymphoma	20505157	CNVD
T-cell lymphomas	19863542	CNVD
Colorectal cancer	20709793	CNVD
Medulloblastoma	20607354	CNVD
Breast cancer	20814816	CNVD
Colorectal cancer	22486879	CNVD
Breast cancer	17908964	CNVD
Colorectal cancer	20031965	CNVD
Hepatocellular carcinoma	16750200	CNVD
Ovarian cancer	17908964	CNVD
Ovarian cancer	20031965	CNVD
Prostate cancer	20031965	CNVD
Non-small cell lung cancer	17643093	CNVD
Prostate cancer	19242612	CNVD
Colorectal cancer	16774939	CNVD
Glioblastoma multiforme	18628472	CNVD
Malignant melanoma	17260012	CNVD
Intracranial aneurysm	16715129	CNVD
Breast cancer	16397240	CNVD
Multiple myeloma	16461302	CNVD
Multiple myeloma	16616336	CNVD
Diffuse large b-cell lymphoma	18287131	CNVD
Breast cancer	21364760	CNVD
Burkitt''s lymphoma	20823134	CNVD
Colorectal cancer	21645411	CNVD
Congenital anomalies of the kidney and urinary tract	20467480	CNVD
Barrett''s adenocarcinoma	18663352	CNVD
Acute myeloid leukemia	17268525	CNVD
Acute myeloid leukemia	18379011	CNVD
Esophageal squamous carcinoma	18405350	CNVD
Chronic lymphocytic leukemia	20421269	CNVD
Breast cancer	21611746	CNVD
Ductal carcinoma	22052326	CNVD
Gastric cancer	18160780	CNVD
Gastric cancer	21635755	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Acute lymphoblastic leukemia	21339820	CNVD

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126587000-126594600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr8:126587800-126594800	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr8:126589600-126594600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr8:126589800-126594400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr8:126592200-126594600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr8:126592600-126603800	Weak transcription	Pancreas	Pancrea
7	chr8:126592800-126595400	Weak transcription	Brain Substantia Nigra	brain
8	chr8:126593000-126594600	Weak transcription	Rectal Mucosa Donor 29	rectum
9	chr8:126594400-126595000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr8:126594600-126594800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr8:126594600-126595000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr8:126594600-126595000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr8:126594600-126595000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr8:126594600-126595000	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr8:126594600-126595200	Enhancers	HUES64 Cell Line	embryonic stem cell
16	chr8:126594600-126595200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr8:126594800-126595200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr8:126595000-126601200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr8:126600000-126604200	Weak transcription	Aorta	Aorta
20	chr8:126601200-126601600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr8:126601600-126602000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr8:126602000-126603000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived

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