Variant report

Variant	esv3409334
Chromosome Location	chr10:1092669-1093539
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr10:1093464-1096968	IMR90	lung:	n/a	chr10:1095411-1095421 chr10:1095080-1095087 chr10:1094729-1094739 chr10:1095408-1095418
2	POLR2A	chr10:1093464-1096904	GM12878	blood:	n/a	n/a
3	POLR2A	chr10:1093445-1096169	Raji	blood:	n/a	n/a
4	POLR2A	chr10:1093439-1093758	GM12878	blood:	n/a	n/a
5	POLR2A	chr10:1093373-1093838	PFSK-1	brain:	n/a	n/a
6	POLR2A	chr10:1093480-1093711	K562	blood:	n/a	n/a
7	POLR2A	chr10:1093468-1093741	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr10:1093473-1093673	GM12878	blood:	n/a	n/a
9	POLR2A	chr10:1093515-1097127	Hela-S3	cervix:	n/a	n/a
10	POLR2A	chr10:1093433-1093732	K562	blood:	n/a	n/a
11	POLR2A	chr10:1093466-1093681	GM12878	blood:	n/a	n/a
12	POLR2A	chr10:1093469-1098007	GM12891	blood:	n/a	n/a
13	POLR2A	chr10:1093491-1093619	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr10:1092131-1092815	SK-N-MC	brain:	n/a	n/a
15	POLR2A	chr10:1093383-1096642	PBDE	blood:	n/a	n/a
16	POLR2A	chr10:1093402-1097928	K562	blood:	n/a	n/a
17	POLR2A	chr10:1093468-1093677	ECC-1	luminal epithelium:	n/a	n/a
18	POLR2A	chr10:1093533-1097129	HepG2	liver:	n/a	n/a
19	POLR2A	chr10:1093388-1093760	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr10:1093391-1097389	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr10:1093438-1096809	GM18505	blood:	n/a	n/a
22	POLR2A	chr10:1093432-1097602	IMR90	lung:	n/a	n/a
23	POLR2A	chr10:1093474-1093776	GM12878	blood:	n/a	n/a
24	POLR2A	chr10:1093476-1093758	A549	lung:	n/a	n/a
25	RFX5	chr10:1093523-1095892	SK-N-SH	brain:	n/a	chr10:1095170-1095179
26	SREBP2	chr10:1093531-1095790	GM12878	blood:	n/a	n/a
27	TCF12	chr10:1093470-1093716	GM12878	blood:	n/a	n/a
28	TCF3	chr10:1092582-1092869	GM12878	blood:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:1086551..1092852-chr10:1093358..1097808,14	MCF-7	breast:
2	chr10:976647..980794-chr10:1093154..1097319,8	MCF-7	breast:
3	chr10:1093376..1095260-chr10:1119342..1122305,3	MCF-7	breast:
4	chr10:975330..979257-chr10:1093215..1097529,5	K562	blood:
5	chr10:1034471..1036574-chr10:1093266..1095946,3	K562	blood:
6	chr10:1032470..1034485-chr10:1092422..1096343,5	MCF-7	breast:
7	chr10:1093530..1095103-chr10:3109700..3112335,2	K562	blood:
8	chr10:1086551..1092852-chr10:1093358..1097808,14	MCF-7	breast:
9	chr10:1090197..1098635-chr10:1098667..1108160,39	K562	blood:
10	chr10:975330..979545-chr10:1093428..1097529,6	K562	blood:

No data

Variant related genes	Relation type
RNU7-163P	TF binding region
WDR37	TF binding region
ENSG00000107937	chromatin interactions
ENSG00000047056	chromatin interactions
ENSG00000205740	chromatin interactions
ENSG00000067057	chromatin interactions
ENSG00000229869	chromatin interactions
ENSG00000238924	chromatin interactions
ENSG00000067064	chromatin interactions
ENSG00000107929	chromatin interactions

Extended variants
information (count: 24 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs553669448	chr10:1092766-1092767	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs376509914	chr10:1092767-1092768	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs113851793	chr10:1092790-1092791	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs77520661	chr10:1092798-1092799	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs113984239	chr10:1092824-1092825	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs112656680	chr10:1092854-1092855	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
7	rs79064466	chr10:1093018-1093019	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
8	rs113981617	chr10:1093101-1093102	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
9	rs28713276	chr10:1093138-1093139	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
10	rs553712107	chr10:1093146-1093147	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
11	rs576856343	chr10:1093206-1093207	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
12	rs539205459	chr10:1093236-1093237	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
13	rs556296228	chr10:1093258-1093259	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
14	rs113974418	chr10:1093371-1093372	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
15	rs552599554	chr10:1093430-1093431	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
16	rs186562500	chr10:1093432-1093433	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
17	rs191573258	chr10:1093434-1093435	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	mRNA abundance
18	rs181256384	chr10:1093436-1093437	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
19	rs576064816	chr10:1093461-1093462	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
20	rs377526190	chr10:1093499-1093500	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
21	rs185177406	chr10:1093504-1093505	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
22	rs189660442	chr10:1093510-1093511	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	7 gene(s)	Overlapped CNVs	n/a
23	rs541860460	chr10:1093533-1093534	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
24	rs372549347	chr10:1093539-1093540	Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:55)

Disease	PMID	Source
Myelofibrosis	22110671	CNVD
Breast cancer	20409316	CNVD
Gastric adenocarcinoma	19115996	CNVD
Pilocytic astrocytoma	18622384	CNVD
Pilomyxoid astrocytoma	18622384	CNVD
Breast cancer	17133270	CNVD
T-cell acute lymphoblastic leukemia	18185524	CNVD
Cancer	21129771	CNVD
Sudden cardiac death	19188705	CNVD
Digeorge syndrome	22283845	CNVD
Colorectal cancer	20709793	CNVD
Wilms tumour	19047088	CNVD
Hepatocellular carcinoma	16750200	CNVD
Acute myeloid leukemia	16864856	CNVD
Cancer	21183584	CNVD
Barakat syndrome	22470819	CNVD
Melanoma	18172304	CNVD
Ovarian cancer	21720365	CNVD
Autism	18414403	CNVD
Malignant melanoma	18718029	CNVD
Breast cancer	22032731	CNVD
Medulloblastoma	16783165	CNVD
Endometrioid adenocarcinoma	16974079	CNVD
Breast cancer	17603634	CNVD
Endometrial cancer	22040021	CNVD
Glioblastoma multiforme	21080181	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Phyllodes tumor	17334353	CNVD
Acute lymphoblastic leukemia	17690704	CNVD
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Medulloblastoma	21979893	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
small cell lung cancer	20016488	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Melanoma	17363583	CNVD
low-grade B-cell lymphoma tumor	18367492	CNVD
Ewing''s sarcoma	17952124	CNVD
Oral cancer	21386901	CNVD
Breast cancer	21785460	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Breast cancer	21509527	CNVD
Prostate cancer	18632612	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Glioblastoma multiforme	21525872	CNVD
Breast cancer	21858162	CNVD
Breast cancer	21364760	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Pancreatic cancer	17952125	CNVD
Breast cancer	22522925	CNVD

Chromatin state (count:281 , 50 per page) page: 1 2 3 4 5 6

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:1035000-1094000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr10:1082600-1094000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr10:1084000-1093400	Weak transcription	Aorta	Aorta
4	chr10:1084200-1093400	Weak transcription	Thymus	Thymus
5	chr10:1088000-1093400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr10:1089200-1092800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr10:1089400-1093600	Weak transcription	Fetal Kidney	kidney
8	chr10:1089600-1093600	Weak transcription	Placenta	Placenta
9	chr10:1089800-1093400	Weak transcription	Fetal Intestine Small	intestine
10	chr10:1089800-1093400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr10:1090000-1093400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr10:1090000-1093400	Weak transcription	HSMMtube	muscle
13	chr10:1090000-1093600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr10:1090000-1093600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr10:1090200-1092800	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr10:1090200-1092800	Enhancers	Primary T helper naive cells from peripheral blood	blood
17	chr10:1090400-1092800	Enhancers	Primary B cells from peripheral blood	blood
18	chr10:1090400-1092800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
19	chr10:1090400-1093400	Weak transcription	Psoas Muscle	Psoas
20	chr10:1090600-1092800	Enhancers	Primary T cells fromperipheralblood	blood
21	chr10:1090600-1092800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
22	chr10:1090600-1092800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr10:1090600-1093400	Weak transcription	Fetal Thymus	thymus
24	chr10:1090800-1092800	Enhancers	Primary T killer memory cells from peripheral blood	blood
25	chr10:1090800-1093400	Weak transcription	Right Ventricle	heart
26	chr10:1091000-1093800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr10:1091200-1093400	Weak transcription	Left Ventricle	heart
28	chr10:1091400-1092800	Enhancers	Gastric	stomach
29	chr10:1091400-1093600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr10:1091600-1092800	Enhancers	Pancreas	Pancrea
31	chr10:1091600-1092800	Enhancers	Stomach Mucosa	stomach
32	chr10:1091600-1093400	Weak transcription	Fetal Muscle Leg	muscle
33	chr10:1092000-1092800	Enhancers	Brain Anterior Caudate	brain
34	chr10:1092000-1092800	Enhancers	Lung	lung
35	chr10:1092200-1092800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr10:1092200-1092800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr10:1092200-1092800	Enhancers	Breast Myoepithelial Primary Cells	Breast
38	chr10:1092200-1092800	Enhancers	Fetal Stomach	stomach
39	chr10:1092200-1092800	Enhancers	Ovary	ovary
40	chr10:1092200-1092800	Enhancers	Right Atrium	heart
41	chr10:1092400-1092800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr10:1092400-1092800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
43	chr10:1092400-1092800	Enhancers	Brain Substantia Nigra	brain
44	chr10:1092400-1092800	Enhancers	Monocytes-CD14+_RO01746	blood
45	chr10:1092400-1093400	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr10:1092400-1093400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr10:1092400-1093400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr10:1092400-1093400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr10:1092400-1093400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
50	chr10:1092400-1093400	Weak transcription	Colon Smooth Muscle	Colon

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