Variant report

Variant	esv3401722
Chromosome Location	chr10:43917246-43919794
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	ARID3A	chr10:43915874-43917818	HepG2	liver:	n/a	n/a
2	ARID3A	chr10:43918875-43919135	K562	blood:	n/a	n/a
3	CBX3	chr10:43918819-43919219	K562	blood:	n/a	n/a
4	CEBPB	chr10:43919405-43919488	K562	blood:	n/a	n/a
5	CUX1	chr10:43918928-43919043	K562	blood:	n/a	n/a
6	CUX1	chr10:43917603-43917648	K562	blood:	n/a	n/a
7	EGR1	chr10:43919038-43919192	K562	blood:	n/a	n/a
8	EP300	chr10:43918995-43919028	K562	blood:	n/a	n/a
9	EP300	chr10:43917574-43917654	K562	blood:	n/a	chr10:43917591-43917600 chr10:43917590-43917599
10	EP300	chr10:43918868-43919002	GM12878	blood:	n/a	n/a
11	FOS	chr10:43917023-43917804	MCF10A-Er-Src	breast:	n/a	chr10:43917590-43917599 chr10:43917591-43917598 chr10:43917591-43917600 chr10:43917591-43917599
12	FOS	chr10:43917602-43917800	MCF10A-Er-Src	breast:	n/a	n/a
13	FOS	chr10:43916937-43917821	MCF10A-Er-Src	breast:	n/a	chr10:43917590-43917599 chr10:43917591-43917598 chr10:43917591-43917600 chr10:43917591-43917599
14	FOS	chr10:43917028-43917804	MCF10A-Er-Src	breast:	n/a	chr10:43917590-43917599 chr10:43917591-43917598 chr10:43917591-43917600 chr10:43917591-43917599
15	FOSL2	chr10:43917296-43917818	HepG2	liver:	n/a	chr10:43917590-43917601 chr10:43917590-43917599 chr10:43917591-43917598 chr10:43917591-43917600 chr10:43917591-43917599
16	FOSL2	chr10:43917281-43917893	HepG2	liver:	n/a	chr10:43917590-43917601 chr10:43917590-43917599 chr10:43917591-43917598 chr10:43917591-43917600 chr10:43917591-43917599
17	GATA1	chr10:43915337-43917500	PBDE	blood:	n/a	chr10:43916640-43916661 chr10:43916647-43916657 chr10:43916645-43916655 chr10:43916642-43916658 chr10:43916645-43916654 chr10:43916647-43916654
18	HEY1	chr10:43917350-43917549	HepG2	liver:	n/a	n/a
19	HEY1	chr10:43917212-43917710	HepG2	liver:	n/a	n/a
20	HNF4A	chr10:43917443-43917693	HepG2	liver:	n/a	chr10:43917567-43917575 chr10:43917566-43917581
21	JUN	chr10:43917411-43917770	K562	blood:	n/a	chr10:43917590-43917599 chr10:43917591-43917598 chr10:43917591-43917600 chr10:43917591-43917599
22	JUN	chr10:43917439-43917770	HepG2	liver:	n/a	chr10:43917590-43917599 chr10:43917591-43917598 chr10:43917591-43917600 chr10:43917591-43917599
23	JUND	chr10:43917436-43917679	HepG2	liver:	n/a	chr10:43917589-43917600 chr10:43917590-43917599 chr10:43917591-43917598 chr10:43917591-43917600 chr10:43917591-43917599
24	JUND	chr10:43917417-43917695	HepG2	liver:	n/a	chr10:43917589-43917600 chr10:43917590-43917599 chr10:43917591-43917598 chr10:43917591-43917600 chr10:43917591-43917599
25	JUND	chr10:43917449-43917786	K562	blood:	n/a	chr10:43917589-43917600 chr10:43917590-43917599 chr10:43917591-43917598 chr10:43917591-43917600 chr10:43917591-43917599
26	JUND	chr10:43917353-43917819	HepG2	liver:	n/a	chr10:43917589-43917600 chr10:43917590-43917599 chr10:43917591-43917598 chr10:43917591-43917600 chr10:43917591-43917599
27	MAFF	chr10:43917482-43917766	K562	blood:	n/a	chr10:43917589-43917607
28	MAFF	chr10:43917451-43917756	HepG2	liver:	n/a	chr10:43917589-43917607
29	MAFK	chr10:43917444-43917694	HepG2	liver:	n/a	chr10:43917591-43917601 chr10:43917590-43917605 chr10:43917592-43917601
30	MAFK	chr10:43917340-43917622	K562	blood:	n/a	chr10:43917591-43917601 chr10:43917590-43917605 chr10:43917592-43917601
31	MAFK	chr10:43917458-43917657	HepG2	liver:	n/a	chr10:43917591-43917601 chr10:43917590-43917605 chr10:43917592-43917601
32	MXI1	chr10:43917477-43917534	HepG2	liver:	n/a	n/a
33	MYC	chr10:43915808-43917262	MCF10A-Er-Src	breast:	n/a	chr10:43915985-43915994 chr10:43915983-43915998 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915985-43915995 chr10:43915984-43915994 chr10:43915981-43915996 chr10:43915985-43915995 chr10:43915984-43915993 chr10:43915983-43915996 chr10:43915985-43915994 chr10:43915984-43915995 chr10:43915983-43915996 chr10:43915984-43915995 chr10:43915984-43915994
34	NR2F2	chr10:43918552-43918825	K562	blood:	n/a	n/a
35	POLR2A	chr10:43917295-43917508	HepG2	liver:	n/a	n/a
36	POLR2A	chr10:43917119-43917582	HepG2	liver:	n/a	n/a
37	POLR2A	chr10:43917591-43917639	HepG2	liver:	n/a	n/a
38	POLR2A	chr10:43917340-43917543	HepG2	liver:	n/a	n/a
39	POLR2A	chr10:43919035-43919096	HepG2	liver:	n/a	n/a
40	STAT3	chr10:43917089-43917288	MCF10A-Er-Src	breast:	n/a	n/a
41	TBL1XR1	chr10:43918936-43919070	K562	blood:	n/a	n/a
42	TBP	chr10:43919088-43919263	K562	blood:	n/a	n/a
43	ZC3H11A	chr10:43919006-43919061	K562	blood:	n/a	n/a
44	ZNF384	chr10:43917339-43917788	K562	blood:	n/a	n/a
45	ZNF384	chr10:43919152-43919153	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:43915403..43918859-chr10:43929644..43933431,7	K562	blood:
2	chr10:43912793..43917262-chr10:43929806..43934635,10	MCF-7	breast:
3	chr10:43919040..43921550-chr10:43937785..43940641,2	K562	blood:
4	chr10:43914713..43918981-chr10:43928825..43933676,11	MCF-7	breast:
5	chr10:43913716..43915348-chr10:43917079..43919877,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZNF487P-1	chr10:43917118-43917548	ENSG00000230555.2
2	lnc-ZNF487P-1	chr10:43917118-43917254	XLOC_008467

Variant related genes	Relation type
ENSG00000221400	TF binding region
ENSG00000243660	chromatin interactions

Extended variants
information (count: 100 )
Associated
traits (count: 54 )

Variant overlapped rSNPs/rCNVs (count:100 , 50 per page) page: 1 2

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs147851387	chr10:43917258-43917259	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
2	rs544782280	chr10:43917279-43917280	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
3	rs563258258	chr10:43917309-43917310	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
4	rs530454776	chr10:43917326-43917327	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
5	rs568770121	chr10:43917334-43917335	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
6	rs141411489	chr10:43917359-43917360	Weak transcription Enhancers Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
7	rs560992765	chr10:43917424-43917425	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
8	rs373842482	chr10:43917450-43917451	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
9	rs183907407	chr10:43917485-43917486	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
10	rs188851594	chr10:43917503-43917504	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
11	rs571514789	chr10:43917541-43917542	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
12	rs79881360	chr10:43917545-43917546	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
13	rs79019618	chr10:43917546-43917547	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
14	rs577026170	chr10:43917547-43917548	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
15	rs386371255	chr10:43917548-43917549	Weak transcription Enhancers	TF binding region Chromatin interactive region lncRNA	2 gene(s)	Overlapped CNVs	n/a
16	rs386371256	chr10:43917562-43917563	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
17	rs71016758	chr10:43917563-43917564	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
18	rs117386570	chr10:43917571-43917572	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
19	rs550830411	chr10:43917621-43917622	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
20	rs569213051	chr10:43917639-43917640	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
21	rs149776560	chr10:43917663-43917664	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
22	rs554964181	chr10:43917668-43917669	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
23	rs10899800	chr10:43917684-43917685	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
24	rs534222978	chr10:43917685-43917686	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
25	rs558721659	chr10:43917708-43917709	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
26	rs2248707	chr10:43917716-43917717	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
27	rs545070183	chr10:43917739-43917740	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
28	rs556755560	chr10:43917742-43917743	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
29	rs2248706	chr10:43917750-43917751	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
30	rs12267651	chr10:43917761-43917762	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	LD-proxies of rSNP Overlapped rCNV	n/a
31	rs560872913	chr10:43917768-43917769	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
32	rs528393059	chr10:43917788-43917789	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
33	rs540574690	chr10:43917805-43917806	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
34	rs565058288	chr10:43917869-43917870	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
35	rs117813821	chr10:43917875-43917876	Weak transcription Enhancers	TF binding region Chromatin interactive region	2 gene(s)	Overlapped CNVs	n/a
36	rs550773998	chr10:43917897-43917898	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
37	rs569218982	chr10:43917918-43917919	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
38	rs111311421	chr10:43918085-43918086	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
39	rs373912774	chr10:43918089-43918090	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
40	rs373987772	chr10:43918111-43918112	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
41	rs71016759	chr10:43918124-43918125	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
42	rs370322635	chr10:43918131-43918132	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
43	rs55657821	chr10:43918162-43918163	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
44	rs368004685	chr10:43918179-43918180	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
45	rs570987328	chr10:43918255-43918256	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
46	rs112205167	chr10:43918267-43918268	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
47	rs112134736	chr10:43918322-43918323	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
48	rs530220302	chr10:43918361-43918362	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
49	rs375726712	chr10:43918364-43918365	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a
50	rs55810756	chr10:43918415-43918416	Weak transcription Enhancers	Chromatin interactive region	1 gene(s)	Overlapped CNVs	n/a

Variant related diseases (count:54)

Disease	PMID	Source
Pancreatic endocrine tumor	17639061	CNVD
Gastric cancer	17908304	CNVD
Chordoma	21602918	CNVD
Ewing''s sarcoma	21437220	CNVD
Glioblastoma multiforme	21080181	CNVD
Medulloblastoma	21979893	CNVD
Melanoma	18172304	CNVD
Pleomorphic xanthoastrocytoma	20730472	CNVD
Lung cancer	18438408	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Ewing''s sarcoma	17952124	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Hodgkin''s lymphoma	17606441	CNVD
Acute lymphoblastic leukemia	20435627	CNVD
Acute lymphoblastic leukemia	20724749	CNVD
Autism	22495311	CNVD
Esophageal cancer	21851588	CNVD
Prostate cancer	18632612	CNVD
Autism	18414403	CNVD
Cockayne syndrome	18421352	CNVD
Glioblastoma	16823260	CNVD
Medulloblastoma	16968546	CNVD
Neuroblastoma	17533364	CNVD
Mental retardation	21062444	CNVD
Cancer	21183584	CNVD
T-cell lymphomas	19863542	CNVD
Testicular germ cell tumor	18059402	CNVD
Squamous cell cancer	21044232	CNVD
Glioma	21971842	CNVD
Cancer	21637783	CNVD
Non-small cell lung cancer	21044232	CNVD
Non-syndromic sensorineural hearing loss	18471307	CNVD
Colorectal cancer	20709793	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oligodendroglial tumors	17285580	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
Breast cancer	21364760	CNVD
Myelofibrosis	22110671	CNVD
Schizophrenia	22241247	CNVD
Intellectual disability	21811512	CNVD
Papillary thyroid carcinoma	21436994	CNVD
Hirschsprung''s Disease	21712996	CNVD
Non-syndromic sensorineural hearing loss	15273396	CNVD
Obesity	21956041	CNVD
Renal cell carcinoma	18765545	CNVD
Breast cancer	21785460	CNVD
small cell lung cancer	20016488	CNVD
Developmental delay	21948486	CNVD
Dysmorphic features	21948486	CNVD
Epilepsy	21948486	CNVD
Breast cancer	21509527	CNVD

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43915800-43917400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr10:43916400-43917400	Flanking Active TSS	HepG2	liver
3	chr10:43916600-43917800	Enhancers	Stomach Mucosa	stomach
4	chr10:43916800-43917400	Enhancers	Primary B cells from cord blood	blood
5	chr10:43916800-43917400	Enhancers	Primary B cells from peripheral blood	blood
6	chr10:43916800-43917400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
7	chr10:43916800-43917400	Enhancers	Liver	Liver
8	chr10:43916800-43917400	Enhancers	Brain Angular Gyrus	brain
9	chr10:43916800-43917400	Enhancers	Brain Hippocampus Middle	brain
10	chr10:43916800-43917400	Enhancers	Brain Substantia Nigra	brain
11	chr10:43916800-43917400	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr10:43916800-43917400	Enhancers	Fetal Muscle Trunk	muscle
13	chr10:43916800-43917400	Enhancers	Skeletal Muscle Female	skeletal muscle
14	chr10:43916800-43917400	Enhancers	NHDF-Ad	bronchial
15	chr10:43916800-43917600	Enhancers	Primary neutrophils fromperipheralblood	blood
16	chr10:43916800-43917600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
17	chr10:43916800-43917600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr10:43916800-43917600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:43916800-43917600	Enhancers	Colon Smooth Muscle	Colon
20	chr10:43916800-43917600	Enhancers	Fetal Muscle Leg	muscle
21	chr10:43916800-43917600	Enhancers	Right Ventricle	heart
22	chr10:43916800-43917800	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr10:43916800-43918000	Enhancers	Fetal Intestine Large	intestine
24	chr10:43916800-43918000	Enhancers	Fetal Intestine Small	intestine
25	chr10:43916800-43918000	Enhancers	Small Intestine	intestine
26	chr10:43916800-43919800	Weak transcription	Fetal Lung	lung
27	chr10:43916800-43920000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
28	chr10:43916800-43921200	Weak transcription	Primary T cells from cord blood	blood
29	chr10:43916800-43922400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr10:43916800-43931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:43916800-43931600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr10:43916800-43931600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr10:43917000-43917400	Enhancers	Primary monocytes fromperipheralblood	blood
34	chr10:43917000-43917400	Enhancers	Primary T cells fromperipheralblood	blood
35	chr10:43917000-43917400	Enhancers	Primary T helper cells fromperipheralblood	blood
36	chr10:43917000-43917400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr10:43917000-43917400	Enhancers	Muscle Satellite Cultured Cells	--
38	chr10:43917000-43917400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr10:43917000-43917400	Enhancers	Brain Cingulate Gyrus	brain
40	chr10:43917000-43917400	Enhancers	Lung	lung
41	chr10:43917000-43917400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr10:43917000-43917400	Enhancers	Skeletal Muscle Male	skeletal muscle
43	chr10:43917000-43917800	Enhancers	K562	blood
44	chr10:43917000-43931600	Weak transcription	Fetal Brain Female	brain
45	chr10:43917200-43917400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr10:43917200-43917400	Enhancers	Primary T helper cells PMA-I stimulated	--
47	chr10:43917200-43917400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr10:43917200-43917400	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr10:43917200-43917400	Enhancers	Rectal Smooth Muscle	rectum
50	chr10:43917200-43917400	Enhancers	A549	lung

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