Variant report

Variant	rs10857616
Chromosome Location	chr10:49864260-49864261
allele	C/T
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	PAX5	chr10:49864219-49864644	GM12892	blood:	n/a	chr10:49864227-49864246 chr10:49864226-49864244
2	POLR2A	chr10:49863949-49864690	HUVEC	blood vessel:	n/a	n/a
3	RUNX3	chr10:49864243-49864721	GM12878	blood:	n/a	n/a
4	SMC3	chr10:49864175-49864740	GM12878	blood:	n/a	chr10:49864343-49864353 chr10:49864472-49864482 chr10:49864472-49864486
5	RAD21	chr10:49864182-49864681	GM12878	blood:	n/a	chr10:49864471-49864484 chr10:49864454-49864467 chr10:49864406-49864416 chr10:49864470-49864482 chr10:49864472-49864482 chr10:49864468-49864487
6	POLR2A	chr10:49864125-49864724	HCT-116	colon:	n/a	n/a
7	HMGN3	chr10:49863654-49864651	K562	blood:	n/a	chr10:49863685-49863694
8	RAD21	chr10:49864243-49864587	K562	blood:	n/a	chr10:49864471-49864484 chr10:49864454-49864467 chr10:49864406-49864416 chr10:49864470-49864482 chr10:49864472-49864482 chr10:49864468-49864487
9	PAX5	chr10:49864258-49864596	GM12878	blood:	n/a	n/a
10	YY1	chr10:49864192-49864719	GM12878	blood:	n/a	chr10:49864440-49864449
11	ELF1	chr10:49864229-49864740	HepG2	liver:	n/a	chr10:49864440-49864449 chr10:49864542-49864551 chr10:49864448-49864461 chr10:49864238-49864250
12	RCOR1	chr10:49864228-49864750	K562	blood:	n/a	n/a
13	MAZ	chr10:49864259-49864616	Hela-S3	cervix:	n/a	n/a
14	ELF1	chr10:49864123-49864796	GM12878	blood:	n/a	chr10:49864440-49864449 chr10:49864542-49864551 chr10:49864448-49864461 chr10:49864238-49864250
15	RAD21	chr10:49863121-49865128	SK-N-SH	brain:	n/a	chr10:49864471-49864484 chr10:49864454-49864467 chr10:49864406-49864416 chr10:49864470-49864482 chr10:49864472-49864482 chr10:49864108-49864121 chr10:49863692-49863706 chr10:49863461-49863475 chr10:49864468-49864487
16	JUN	chr10:49864118-49865333	K562	blood:	n/a	chr10:49865132-49865143
17	MAX	chr10:49864223-49864705	K562	blood:	n/a	n/a
18	JUND	chr10:49864187-49864747	A549	lung:	n/a	n/a
19	CTCFL	chr10:49864151-49864625	K562	blood:	n/a	chr10:49864472-49864481
20	RCOR1	chr10:49864136-49864738	GM12878	blood:	n/a	n/a
21	POLR2A	chr10:49864202-49864777	HCT-116	colon:	n/a	n/a
22	MAX	chr10:49863388-49864788	A549	lung:	n/a	chr10:49863987-49863997 chr10:49863989-49863996 chr10:49863988-49863997 chr10:49863984-49863999 chr10:49863988-49863997 chr10:49863684-49863693 chr10:49863987-49863998
23	POLR2A	chr10:49864090-49864743	SK-N-SH	brain:	n/a	n/a
24	ZBTB33	chr10:49864212-49864618	HCT-116	colon:	n/a	n/a
25	CTCF	chr10:49864031-49864876	GM12878	blood:	n/a	chr10:49864472-49864485 chr10:49864472-49864485 chr10:49864473-49864483 chr10:49864476-49864485 chr10:49864470-49864488 chr10:49864471-49864487 chr10:49864404-49864422
26	RAD21	chr10:49864003-49864869	HCT-116	colon:	n/a	chr10:49864471-49864484 chr10:49864454-49864467 chr10:49864406-49864416 chr10:49864470-49864482 chr10:49864472-49864482 chr10:49864108-49864121 chr10:49864468-49864487
27	MAX	chr10:49863351-49864919	HCT-116	colon:	n/a	chr10:49863987-49863997 chr10:49863989-49863996 chr10:49863988-49863997 chr10:49863984-49863999 chr10:49863988-49863997 chr10:49863684-49863693 chr10:49863987-49863998
28	TRIM28	chr10:49864234-49864721	K562	blood:	n/a	n/a
29	FOXM1	chr10:49864210-49864672	GM12878	blood:	n/a	n/a
30	TCF12	chr10:49863547-49864768	ECC-1	luminal epithelium:	n/a	n/a
31	E2F6	chr10:49863461-49864299	A549	lung:	n/a	chr10:49863620-49863630 chr10:49864143-49864153 chr10:49864111-49864121 chr10:49864052-49864061
32	CBX3	chr10:49864215-49864763	K562	blood:	n/a	n/a
33	TCF12	chr10:49863121-49864869	SK-N-SH	brain:	n/a	n/a
34	STAT5A	chr10:49864218-49864701	K562	blood:	n/a	chr10:49864449-49864456
35	CTCF	chr10:49864140-49864290	HVMF	connective:	n/a	n/a
36	ELF1	chr10:49864220-49864744	K562	blood:	n/a	chr10:49864440-49864449 chr10:49864542-49864551 chr10:49864448-49864461 chr10:49864238-49864250
37	GABPA	chr10:49864198-49864619	HepG2	liver:	n/a	n/a
38	RAD21	chr10:49864254-49864658	A549	lung:	n/a	chr10:49864471-49864484 chr10:49864454-49864467 chr10:49864406-49864416 chr10:49864470-49864482 chr10:49864472-49864482 chr10:49864468-49864487
39	ZNF143	chr10:49864242-49864632	Hela-S3	cervix:	n/a	n/a
40	SMC3	chr10:49863289-49865368	SK-N-SH	brain:	n/a	chr10:49864343-49864353 chr10:49864472-49864482 chr10:49864472-49864486
41	MAX	chr10:49863251-49864876	A549	lung:	n/a	chr10:49863987-49863997 chr10:49863989-49863996 chr10:49863988-49863997 chr10:49863984-49863999 chr10:49863988-49863997 chr10:49863684-49863693 chr10:49863987-49863998
42	POLR2A	chr10:49864167-49864439	A549	lung:	n/a	n/a
43	ZBTB7A	chr10:49863639-49864584	ECC-1	luminal epithelium:	n/a	chr10:49864471-49864480
44	CEBPB	chr10:49864257-49864743	IMR90	lung:	n/a	n/a
45	NR3C1	chr10:49864254-49864612	A549	lung:	n/a	n/a
46	BHLHE40	chr10:49864249-49864704	GM12878	blood:	n/a	chr10:49864341-49864357 chr10:49864375-49864391
47	RAD21	chr10:49864231-49864774	MCF-7	breast:	n/a	chr10:49864471-49864484 chr10:49864454-49864467 chr10:49864406-49864416 chr10:49864470-49864482 chr10:49864472-49864482 chr10:49864468-49864487
48	ELF1	chr10:49863917-49864783	K562	blood:	n/a	chr10:49864440-49864449 chr10:49864542-49864551 chr10:49864448-49864461 chr10:49864238-49864250
49	TCF12	chr10:49864251-49864610	A549	lung:	n/a	n/a
50	FOXP2	chr10:49864259-49864648	PFSK-1	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:49731096..49734201-chr10:49864172..49866367,3	K562	blood:
2	chr10:49863839..49866724-chr10:50507173..50508742,2	K562	blood:
3	chr10:49714827..49719872-chr10:49861427..49864767,4	K562	blood:

Variant related genes	Relation type
ARHGAP22	TF binding region
ENSG00000177354	Chromatin interaction
ENSG00000248682	Chromatin interaction
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11101416	0.86[ASN][1000 genomes]
rs12257645	0.88[ASN][1000 genomes]
rs2377612	0.85[ASN][1000 genomes]
rs2377613	0.85[ASN][1000 genomes]
rs2377614	0.85[ASN][1000 genomes]
rs2377615	0.88[ASN][1000 genomes]
rs2377616	0.88[ASN][1000 genomes]
rs2377618	0.82[ASN][1000 genomes]
rs4373841	0.88[ASN][1000 genomes]
rs4375365	0.82[ASN][1000 genomes]
rs4525142	0.80[ASN][1000 genomes]
rs4562728	0.82[ASN][1000 genomes]
rs7087882	0.88[ASN][1000 genomes]
rs7087885	0.88[ASN][1000 genomes]
rs7911516	0.84[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49862400-49864600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr10:49863200-49864600	Active TSS	Brain Hippocampus Middle	brain
3	chr10:49863200-49864800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr10:49863200-49865000	Active TSS	H9 Cell Line	embryonic stem cell
5	chr10:49863200-49865200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:49863400-49864400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
7	chr10:49863400-49864400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr10:49863400-49864400	Flanking Active TSS	Colonic Mucosa	Colon
9	chr10:49863400-49864400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
10	chr10:49863400-49864400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
11	chr10:49863400-49864600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr10:49863400-49864600	Active TSS	Psoas Muscle	Psoas
13	chr10:49863400-49864600	Bivalent/Poised TSS	HepG2	liver
14	chr10:49863400-49864800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
15	chr10:49863400-49864800	Active TSS	A549	lung
16	chr10:49863400-49865000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr10:49863400-49865400	Enhancers	Fetal Heart	heart
18	chr10:49863600-49864400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr10:49863600-49864400	Enhancers	Sigmoid Colon	Sigmoid Colon
20	chr10:49863600-49864600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr10:49863600-49864600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr10:49863600-49864600	Enhancers	Primary T helper naive cells from peripheral blood	blood
23	chr10:49863600-49864600	Active TSS	Brain Angular Gyrus	brain
24	chr10:49863600-49864600	Active TSS	Brain Substantia Nigra	brain
25	chr10:49863600-49864600	Bivalent Enhancer	Fetal Brain Male	brain
26	chr10:49863600-49864600	Bivalent/Poised TSS	Fetal Brain Female	brain
27	chr10:49863600-49864600	Active TSS	NHLF	lung
28	chr10:49863600-49864600	Active TSS	Osteobl	bone
29	chr10:49863600-49865000	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr10:49863600-49865000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr10:49863600-49865000	Active TSS	HSMMtube	muscle
32	chr10:49863800-49864400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
33	chr10:49863800-49864400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
34	chr10:49863800-49864400	Bivalent Enhancer	Fetal Lung	lung
35	chr10:49863800-49864400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
36	chr10:49863800-49864600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
37	chr10:49863800-49864600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
38	chr10:49863800-49864600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr10:49863800-49864600	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
40	chr10:49863800-49864800	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr10:49863800-49864800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr10:49863800-49864800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr10:49863800-49864800	Active TSS	Aorta	Aorta
44	chr10:49863800-49865000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr10:49863800-49865200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr10:49864000-49864400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr10:49864000-49864400	Active TSS	Small Intestine	intestine
48	chr10:49864000-49864400	Enhancers	Dnd41	blood
49	chr10:49864000-49864400	Active TSS	Hela-S3	cervix
50	chr10:49864000-49864600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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