Variant report

Variant	rs12242873
Chromosome Location	chr10:91088064-91088065
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:203)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:203 , 50 per page) page: 1 2 3 4 5

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RELA	chr10:91087426-91088193	GM15510	blood:	n/a	n/a
2	EP300	chr10:91087424-91088318	K562	blood:	n/a	n/a
3	MAX	chr10:91087227-91088327	A549	lung:	n/a	n/a
4	TCF12	chr10:91087328-91088347	A549	lung:	n/a	n/a
5	TBP	chr10:91087352-91088344	Hela-S3	cervix:	n/a	n/a
6	RFX5	chr10:91087338-91088358	Hela-S3	cervix:	n/a	n/a
7	IKZF1	chr10:91087499-91088188	GM12878	blood:	n/a	n/a
8	EP300	chr10:91087461-91088131	GM12878	blood:	n/a	n/a
9	GATA2	chr10:91087585-91088278	HUVEC	blood vessel:	n/a	chr10:91088115-91088125
10	CEBPB	chr10:91087541-91088491	Hela-S3	cervix:	n/a	chr10:91088306-91088319
11	GABPA	chr10:91087818-91088283	A549	lung:	n/a	n/a
12	RCOR1	chr10:91087397-91088225	K562	blood:	n/a	n/a
13	HEY1	chr10:91087769-91088210	HepG2	liver:	n/a	n/a
14	POLR2A	chr10:91087545-91088347	K562	blood:	n/a	n/a
15	GATA3	chr10:91087472-91088506	SK-N-SH	brain:	n/a	chr10:91088115-91088125
16	ELK4	chr10:91087468-91088248	Hela-S3	cervix:	n/a	chr10:91088114-91088125
17	GABPA	chr10:91087995-91088187	Hela-S3	cervix:	n/a	n/a
18	MYC	chr10:91087435-91088343	K562	blood:	n/a	n/a
19	MYC	chr10:91087541-91088221	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr10:91087258-91088386	HUVEC	blood vessel:	n/a	n/a
21	YY1	chr10:91087880-91088194	SK-N-SH_RA	brain:	n/a	n/a
22	MAX	chr10:91087375-91088296	SK-N-SH	brain:	n/a	n/a
23	RUNX3	chr10:91087490-91088291	GM12878	blood:	n/a	n/a
24	ZMIZ1	chr10:91087520-91088178	K562	blood:	n/a	n/a
25	TAF1	chr10:91087582-91088222	Hela-S3	cervix:	n/a	n/a
26	CHD2	chr10:91087643-91088289	Hela-S3	cervix:	n/a	n/a
27	EP300	chr10:91087868-91088234	SK-N-SH_RA	brain:	n/a	n/a
28	YY1	chr10:91087362-91088312	SK-N-SH	brain:	n/a	n/a
29	STAT3	chr10:91087642-91088213	MCF10A-Er-Src	breast:	n/a	chr10:91088063-91088075 chr10:91087649-91087661 chr10:91088098-91088106 chr10:91087670-91087678
30	POLR2A	chr10:91087400-91088358	U87	brain:	n/a	n/a
31	TEAD4	chr10:91087616-91088262	K562	blood:	n/a	chr10:91087910-91087919
32	TCF7L2	chr10:91087748-91088245	PANC-1	pancreas:	n/a	n/a
33	POLR2A	chr10:91087830-91088261	ECC-1	luminal epithelium:	n/a	n/a
34	POLR2A	chr10:91087546-91088227	PFSK-1	brain:	n/a	n/a
35	FOS	chr10:91087223-91088456	HUVEC	blood vessel:	n/a	n/a
36	POLR2A	chr10:91087277-91088501	U87	brain:	n/a	n/a
37	FOXM1	chr10:91087238-91088474	ECC-1	luminal epithelium:	n/a	n/a
38	POLR2A	chr10:91087494-91088341	K562	blood:	n/a	n/a
39	PBX3	chr10:91087394-91088350	SK-N-SH	brain:	n/a	n/a
40	MYC	chr10:91088015-91088228	HUVEC	blood vessel:	n/a	n/a
41	EP300	chr10:91087540-91088465	SK-N-SH	brain:	n/a	n/a
42	POLR2A	chr10:91087436-91088257	GM12878	blood:	n/a	n/a
43	GABPA	chr10:91087588-91088351	A549	lung:	n/a	n/a
44	MAX	chr10:91087940-91088254	K562	blood:	n/a	n/a
45	CUX1	chr10:91087444-91088501	K562	blood:	n/a	n/a
46	YY1	chr10:91087685-91088147	A549	lung:	n/a	n/a
47	KAP1	chr10:91087547-91088295	U2OS	brain:	n/a	n/a
48	MXI1	chr10:91087441-91088302	Hela-S3	cervix:	n/a	n/a
49	PBX3	chr10:91087548-91088387	SK-N-SH	brain:	n/a	n/a
50	POLR2A	chr10:91087488-91088254	HL-60	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:91087320..91088300-chr8:134583555..134584127,2	Hela-S3	cervix:
2	chr10:91086403..91089519-chr10:91091273..91094339,4	K562	blood:
3	chr1:117113308..117113822-chr10:91087840..91088625,2	Hela-S3	cervix:
4	chr1:149223997..149224516-chr10:91087422..91088285,2	HCT-116	colon:
5	chr10:91087940..91088650-chr6:3826046..3826836,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
IFIT3	TF binding region
ENSG00000119917	Chromatin interaction
ENSG00000116815	Chromatin interaction
ENSG00000206737	Chromatin interaction
ENSG00000008513	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10159717	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11203082	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11203083	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs11203093	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11203095	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12243051	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12243721	1.00[AMR][1000 genomes]
rs12243856	1.00[AMR][1000 genomes]
rs12245646	1.00[AMR][1000 genomes]
rs12250550	1.00[AMR][1000 genomes]
rs12250610	1.00[AMR][1000 genomes]
rs12251678	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12252455	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12255221	0.92[AFR][1000 genomes]
rs12256540	1.00[AMR][1000 genomes]
rs12259825	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12259887	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12262813	0.87[EUR][1000 genomes]
rs12263019	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12263584	1.00[AMR][1000 genomes]
rs12269110	1.00[AMR][1000 genomes]
rs7910817	0.84[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs7912070	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7922439	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv1041964	chr10:90861380-91378356	Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
4	nsv1040375	chr10:91022218-91153074	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
5	esv34085	chr10:91065949-91174175	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS 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 miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:91086600-91088200	Enhancers	H1 Cell Line	embryonic stem cell
2	chr10:91086600-91088200	Enhancers	H9 Cell Line	embryonic stem cell
3	chr10:91086600-91089200	Enhancers	iPS-18 Cell Line	embryonic stem cell
4	chr10:91087000-91088200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr10:91087000-91088200	Active TSS	HSMM	muscle
6	chr10:91087000-91088400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr10:91087000-91088400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr10:91087000-91088400	Flanking Active TSS	HUVEC	blood vessel
9	chr10:91087000-91088600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
10	chr10:91087000-91088800	Enhancers	iPS-15b Cell Line	embryonic stem cell
11	chr10:91087000-91088800	Flanking Active TSS	Primary B cells from cord blood	blood
12	chr10:91087000-91089000	Active TSS	Rectal Mucosa Donor 29	rectum
13	chr10:91087000-91089400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr10:91087000-91089600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr10:91087200-91088200	Flanking Active TSS	Primary B cells from peripheral blood	blood
16	chr10:91087200-91088200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
17	chr10:91087200-91088200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr10:91087200-91088200	Active TSS	Colonic Mucosa	Colon
19	chr10:91087200-91088200	Active TSS	Fetal Kidney	kidney
20	chr10:91087200-91088200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr10:91087200-91088200	Active TSS	Fetal Muscle Trunk	muscle
22	chr10:91087200-91088200	Active TSS	Left Ventricle	heart
23	chr10:91087200-91088200	Active TSS	Lung	lung
24	chr10:91087200-91088200	Active TSS	A549	lung
25	chr10:91087200-91088200	Active TSS	HSMMtube	muscle
26	chr10:91087200-91088400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr10:91087200-91088400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr10:91087200-91088400	Active TSS	Colon Smooth Muscle	Colon
29	chr10:91087200-91088400	Active TSS	Psoas Muscle	Psoas
30	chr10:91087200-91088400	Flanking Active TSS	HMEC	breast
31	chr10:91087200-91088600	Flanking Active TSS	Primary T cells from cord blood	blood
32	chr10:91087200-91088600	Active TSS	Brain Cingulate Gyrus	brain
33	chr10:91087200-91088600	Active TSS	Fetal Intestine Small	intestine
34	chr10:91087200-91088600	Active TSS	Stomach Smooth Muscle	stomach
35	chr10:91087200-91088600	Active TSS	NHLF	lung
36	chr10:91087200-91088800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr10:91087200-91088800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
38	chr10:91087200-91088800	Active TSS	Right Atrium	heart
39	chr10:91087200-91088800	Flanking Active TSS	Dnd41	blood
40	chr10:91087200-91089000	Active TSS	Brain Inferior Temporal Lobe	brain
41	chr10:91087200-91093600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr10:91087400-91088200	Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr10:91087400-91088200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr10:91087400-91088200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
45	chr10:91087400-91088200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr10:91087400-91088200	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
47	chr10:91087400-91088200	Active TSS	Aorta	Aorta
48	chr10:91087400-91088200	Active TSS	Liver	Liver
49	chr10:91087400-91088200	Active TSS	Esophagus	oesophagus
50	chr10:91087400-91088200	Active TSS	Fetal Lung	lung

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