Variant report

Variant	esv990965
Chromosome Location	chr10:1092581-1093980
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	BACH1	chr10:1093937-1094012	H1-hESC	embryonic stem cell:	n/a	n/a
2	CHD1	chr10:1093690-1096143	GM12878	blood:	n/a	chr10:1095411-1095421 chr10:1095080-1095087 chr10:1094729-1094739 chr10:1095408-1095418
3	CHD1	chr10:1093914-1094179	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD1	chr10:1093464-1096968	IMR90	lung:	n/a	chr10:1095411-1095421 chr10:1095080-1095087 chr10:1094729-1094739 chr10:1095408-1095418
5	CTBP2	chr10:1093923-1095338	H1-hESC	embryonic stem cell:	n/a	n/a
6	CUX1	chr10:1093772-1093812	K562	blood:	n/a	n/a
7	HA-E2F1	chr10:1093734-1095668	MCF-7	breast:	n/a	chr10:1095169-1095178 chr10:1095080-1095087 chr10:1095076-1095087
8	HCFC1	chr10:1093923-1095966	Hela-S3	cervix:	n/a	n/a
9	HDAC2	chr10:1093895-1095757	MCF-7	breast:	n/a	n/a
10	IRF1	chr10:1093557-1093579	K562	blood:	n/a	n/a
11	IRF1	chr10:1093918-1096358	K562	blood:	n/a	chr10:1095169-1095178 chr10:1095567-1095580 chr10:1095099-1095113 chr10:1094727-1094741
12	JUND	chr10:1093917-1095853	K562	blood:	n/a	chr10:1095413-1095422
13	MAFF	chr10:1093962-1093986	K562	blood:	n/a	n/a
14	MAX	chr10:1093920-1095960	Hela-S3	cervix:	n/a	n/a
15	MAX	chr10:1093840-1096080	A549	lung:	n/a	n/a
16	MAX	chr10:1093868-1096054	MCF-7	breast:	n/a	n/a
17	MAX	chr10:1093847-1095973	K562	blood:	n/a	n/a
18	MXI1	chr10:1093541-1097006	SK-N-SH	brain:	n/a	n/a
19	MXI1	chr10:1093934-1096262	GM12878	blood:	n/a	n/a
20	MXI1	chr10:1093957-1095612	K562	blood:	n/a	n/a
21	MYC	chr10:1093559-1093586	MCF-7	breast:	n/a	n/a
22	MYC	chr10:1093947-1095856	K562	blood:	n/a	n/a
23	MYC	chr10:1093965-1095781	K562	blood:	n/a	n/a
24	MYC	chr10:1093968-1096397	K562	blood:	n/a	n/a
25	POLR2A	chr10:1093515-1097127	Hela-S3	cervix:	n/a	n/a
26	POLR2A	chr10:1093825-1096144	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr10:1093533-1097129	HepG2	liver:	n/a	n/a
28	POLR2A	chr10:1093383-1096642	PBDE	blood:	n/a	n/a
29	POLR2A	chr10:1093433-1093732	K562	blood:	n/a	n/a
30	POLR2A	chr10:1093593-1096958	MCF10A-Er-Src	breast:	n/a	n/a
31	POLR2A	chr10:1093828-1096068	H1-neurons	neurons:	n/a	n/a
32	POLR2A	chr10:1093545-1096236	GM12878	blood:	n/a	n/a
33	POLR2A	chr10:1093548-1093582	MCF-7	breast:	n/a	n/a
34	POLR2A	chr10:1093834-1095948	H1-hESC	embryonic stem cell:	n/a	n/a
35	POLR2A	chr10:1093822-1095978	GM12878	blood:	n/a	n/a
36	POLR2A	chr10:1093466-1093681	GM12878	blood:	n/a	n/a
37	POLR2A	chr10:1093888-1096024	GM15510	blood:	n/a	n/a
38	POLR2A	chr10:1093468-1093741	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr10:1093594-1095997	GM19099	blood:	n/a	n/a
40	POLR2A	chr10:1093963-1095929	HUVEC	blood vessel:	n/a	n/a
41	POLR2A	chr10:1093969-1096481	K562	blood:	n/a	n/a
42	POLR2A	chr10:1093474-1093776	GM12878	blood:	n/a	n/a
43	POLR2A	chr10:1093924-1094094	GM12878	blood:	n/a	n/a
44	POLR2A	chr10:1093388-1093760	SK-N-MC	brain:	n/a	n/a
45	POLR2A	chr10:1093469-1098007	GM12891	blood:	n/a	n/a
46	POLR2A	chr10:1093899-1095858	GM12892	blood:	n/a	n/a
47	POLR2A	chr10:1093940-1095886	K562	blood:	n/a	n/a
48	POLR2A	chr10:1093464-1096904	GM12878	blood:	n/a	n/a
49	POLR2A	chr10:1093439-1093758	GM12878	blood:	n/a	n/a
50	POLR2A	chr10:1088970-1092654	PBDE	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:862621..864941-chr10:1093601..1095368,2	K562	blood:
2	chr10:1093530..1095103-chr10:3109700..3112335,2	K562	blood:
3	chr10:1086551..1092852-chr10:1093358..1097808,14	MCF-7	breast:
4	chr10:1033990..1039615-chr10:1093691..1098446,7	MCF-7	breast:
5	chr10:975330..979545-chr10:1093428..1097529,6	K562	blood:
6	chr10:976200..979208-chr10:1093606..1097726,5	MCF-7	breast:
7	chr10:1086551..1092852-chr10:1093358..1097808,14	MCF-7	breast:
8	chr10:975330..979257-chr10:1093215..1097529,5	K562	blood:
9	chr10:1093376..1095260-chr10:1119342..1122305,3	MCF-7	breast:
10	chr10:976647..980794-chr10:1093154..1097319,8	MCF-7	breast:
11	chr10:1034471..1036574-chr10:1093266..1095946,3	K562	blood:
12	chr10:1090197..1098635-chr10:1098667..1108160,39	K562	blood:
13	chr10:1032470..1034485-chr10:1092422..1096343,5	MCF-7	breast:

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

Extended variants
information (count: 44 )
Associated
traits (count: 55 )

Variant overlapped rSNPs/rCNVs (count:44 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs78307626	chr10:1092594-1092595	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
2	rs113791712	chr10:1092602-1092603	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
3	rs113546691	chr10:1092632-1092633	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
4	rs55736838	chr10:1092640-1092641	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
5	rs553669448	chr10:1092766-1092767	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
6	rs376509914	chr10:1092767-1092768	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
7	rs113851793	chr10:1092790-1092791	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
8	rs77520661	chr10:1092798-1092799	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
9	rs113984239	chr10:1092824-1092825	Weak transcription Enhancers	TF binding region Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
10	rs112656680	chr10:1092854-1092855	Weak transcription Enhancers	TF binding region Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
11	rs79064466	chr10:1093018-1093019	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
12	rs113981617	chr10:1093101-1093102	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
13	rs28713276	chr10:1093138-1093139	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
14	rs553712107	chr10:1093146-1093147	Weak transcription Enhancers	Chromatin interactive region	3 gene(s)	Overlapped CNVs	n/a
15	rs576856343	chr10:1093206-1093207	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
16	rs539205459	chr10:1093236-1093237	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
17	rs556296228	chr10:1093258-1093259	Weak transcription Enhancers	Chromatin interactive region	5 gene(s)	Overlapped CNVs	n/a
18	rs113974418	chr10:1093371-1093372	Weak transcription Enhancers	Chromatin interactive region	6 gene(s)	Overlapped CNVs	n/a
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	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
27	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
28	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
29	rs377553592	chr10:1093540-1093541	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
30	rs201194968	chr10:1093570-1093571	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
31	rs374531158	chr10:1093610-1093611	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
32	rs561534519	chr10:1093617-1093618	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
33	rs560284250	chr10:1093656-1093657	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
34	rs150191422	chr10:1093675-1093676	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
35	rs545821666	chr10:1093681-1093682	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
36	rs562308513	chr10:1093732-1093733	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
37	rs138752571	chr10:1093734-1093735	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
38	rs548587431	chr10:1093753-1093754	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
39	rs115695617	chr10:1093788-1093789	Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
40	rs527878452	chr10:1093862-1093863	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
41	rs370182113	chr10:1093904-1093905	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
42	rs11250240	chr10:1093943-1093944	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
43	rs568959757	chr10:1093946-1093947	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	TF binding region Chromatin interactive region	8 gene(s)	Overlapped CNVs	n/a
44	rs557382513	chr10:1093959-1093960	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Bivalent/Poised TSS	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:439 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

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	chr10:1089600-1092600	Transcr. at gene 5' and 3'	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr10:1089600-1093600	Weak transcription	Placenta	Placenta
10	chr10:1089800-1093400	Weak transcription	Fetal Intestine Small	intestine
11	chr10:1089800-1093400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr10:1090000-1092600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr10:1090000-1092600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr10:1090000-1093400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr10:1090000-1093400	Weak transcription	HSMMtube	muscle
16	chr10:1090000-1093600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr10:1090000-1093600	Weak transcription	Fetal Muscle Trunk	muscle
18	chr10:1090200-1092600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:1090200-1092600	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr10:1090200-1092600	Transcr. at gene 5' and 3'	Dnd41	blood
21	chr10:1090200-1092800	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr10:1090200-1092800	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr10:1090400-1092800	Enhancers	Primary B cells from peripheral blood	blood
24	chr10:1090400-1092800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr10:1090400-1093400	Weak transcription	Psoas Muscle	Psoas
26	chr10:1090600-1092800	Enhancers	Primary T cells fromperipheralblood	blood
27	chr10:1090600-1092800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr10:1090600-1092800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr10:1090600-1093400	Weak transcription	Fetal Thymus	thymus
30	chr10:1090800-1092600	Flanking Active TSS	HUVEC	blood vessel
31	chr10:1090800-1092800	Enhancers	Primary T killer memory cells from peripheral blood	blood
32	chr10:1090800-1093400	Weak transcription	Right Ventricle	heart
33	chr10:1091000-1092600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr10:1091000-1092600	Active TSS	NHLF	lung
35	chr10:1091000-1093800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr10:1091200-1093400	Weak transcription	Left Ventricle	heart
37	chr10:1091400-1092600	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr10:1091400-1092600	Active TSS	iPS-15b Cell Line	embryonic stem cell
39	chr10:1091400-1092600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
40	chr10:1091400-1092600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
41	chr10:1091400-1092600	Enhancers	Spleen	Spleen
42	chr10:1091400-1092800	Enhancers	Gastric	stomach
43	chr10:1091400-1093600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr10:1091600-1092600	Flanking Active TSS	Liver	Liver
45	chr10:1091600-1092600	Flanking Active TSS	Duodenum Mucosa	Duodenum
46	chr10:1091600-1092600	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr10:1091600-1092600	Transcr. at gene 5' and 3'	NHEK	skin
48	chr10:1091600-1092800	Enhancers	Pancreas	Pancrea
49	chr10:1091600-1092800	Enhancers	Stomach Mucosa	stomach
50	chr10:1091600-1093400	Weak transcription	Fetal Muscle Leg	muscle

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