Variant report

Variant	rs61858988
Chromosome Location	chr10:43915464-43915465
allele	A/G
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	E2F6	chr10:43915461-43916925	H1-hESC	embryonic stem cell:	n/a	chr10:43915792-43915800 chr10:43915790-43915804 chr10:43915792-43915800
2	POLR2A	chr10:43915432-43916699	K562	blood:	n/a	n/a
3	SIN3AK20	chr10:43915446-43916927	MCF-7	breast:	n/a	n/a
4	MXI1	chr10:43915377-43917229	SK-N-SH	brain:	n/a	chr10:43915986-43915995 chr10:43915984-43915993 chr10:43915986-43915995
5	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
6	POLR2A	chr10:43915264-43916849	HL-60	blood:	n/a	n/a
7	POLR2A	chr10:43915439-43916868	HL-60	blood:	n/a	n/a
8	POLR2A	chr10:43915204-43916846	HepG2	liver:	n/a	n/a
9	CBX3	chr10:43915312-43916839	K562	blood:	n/a	n/a
10	SMARCB1	chr10:43915366-43916629	Hela-S3	cervix:	n/a	n/a
11	RELA	chr10:43915426-43916771	GM15510	blood:	n/a	n/a
12	SETDB1	chr10:43915384-43916777	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:43914713..43918981-chr10:43928825..43933676,11	MCF-7	breast:
2	chr10:43912793..43917262-chr10:43929806..43934635,10	MCF-7	breast:
3	chr10:43915403..43918859-chr10:43929644..43933431,7	K562	blood:
4	chr10:43914381..43916452-chr16:1830541..1833137,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000230555	TF binding region
ENSG00000221400	TF binding region
ENSG00000243660	Chromatin interaction
ENSG00000095906	Chromatin interaction
ENSG00000162032	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs61860889	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv430159	chr10:43291894-43946294	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	nsv895087	chr10:43783339-43982390	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv831842	chr10:43846541-43987501	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
4	nsv895088	chr10:43871999-44003101	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
5	nsv825354	chr10:43883418-43949936	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	66 gene(s)	inside rSNPs	diseases
6	nsv825355	chr10:43890579-43923802	Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
7	nsv825356	chr10:43893080-43946515	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:43905800-43915600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr10:43905800-43915600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr10:43906000-43915800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr10:43906400-43915600	Weak transcription	Hela-S3	cervix
5	chr10:43907600-43915600	Weak transcription	NHEK	skin
6	chr10:43911800-43915600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr10:43912000-43915600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:43912400-43915600	Enhancers	Primary T cells fromperipheralblood	blood
9	chr10:43912600-43915600	Enhancers	Fetal Thymus	thymus
10	chr10:43912800-43915600	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr10:43912800-43915600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
12	chr10:43912800-43915600	Enhancers	Primary T killer memory cells from peripheral blood	blood
13	chr10:43913000-43915600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
14	chr10:43913000-43915600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
15	chr10:43913200-43915600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr10:43913200-43915800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
17	chr10:43913400-43915600	Enhancers	HepG2	liver
18	chr10:43913800-43915600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr10:43913800-43915800	Weak transcription	A549	lung
20	chr10:43914000-43916000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr10:43914200-43915600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr10:43914200-43915600	Weak transcription	Fetal Heart	heart
23	chr10:43914200-43915600	Enhancers	GM12878-XiMat	blood
24	chr10:43914200-43915600	Weak transcription	HUVEC	blood vessel
25	chr10:43914200-43915600	Enhancers	K562	blood
26	chr10:43914400-43915600	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr10:43914400-43915600	Weak transcription	Esophagus	oesophagus
28	chr10:43914400-43915600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
29	chr10:43914600-43915600	Weak transcription	Thymus	Thymus
30	chr10:43915000-43915600	Enhancers	Primary B cells from peripheral blood	blood
31	chr10:43915000-43915600	Enhancers	Duodenum Mucosa	Duodenum
32	chr10:43915000-43915600	Enhancers	Stomach Mucosa	stomach
33	chr10:43915000-43916000	Enhancers	Primary hematopoietic stem cells	blood
34	chr10:43915200-43915600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr10:43915200-43915600	Enhancers	Colon Smooth Muscle	Colon
36	chr10:43915200-43915600	Enhancers	Fetal Intestine Large	intestine
37	chr10:43915200-43915600	Enhancers	Fetal Intestine Small	intestine
38	chr10:43915200-43915600	Enhancers	Fetal Muscle Trunk	muscle
39	chr10:43915200-43915600	Enhancers	Fetal Muscle Leg	muscle
40	chr10:43915200-43915800	Enhancers	Spleen	Spleen
41	chr10:43915200-43915800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
42	chr10:43915200-43916600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr10:43915200-43916800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr10:43915200-43916800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
45	chr10:43915400-43915600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr10:43915400-43915600	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr10:43915400-43915600	Enhancers	Muscle Satellite Cultured Cells	--
48	chr10:43915400-43915600	Enhancers	Brain Germinal Matrix	brain
49	chr10:43915400-43915600	Enhancers	Brain Hippocampus Middle	brain
50	chr10:43915400-43915600	Enhancers	Brain Inferior Temporal Lobe	brain

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