Variant report

Variant	rs12157693
Chromosome Location	chr22:31739222-31739223
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:96)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:96 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr22:31738526-31742192	GM12892	blood:	n/a	n/a
2	POLR2A	chr22:31738456-31744066	MCF-7	breast:	n/a	n/a
3	TCF12	chr22:31739191-31739680	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr22:31738791-31740791	HepG2	liver:	n/a	n/a
5	MAX	chr22:31739169-31739933	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr22:31738630-31742577	GM12892	blood:	n/a	n/a
7	POLR2A	chr22:31738497-31742182	SK-N-MC	brain:	n/a	n/a
8	SIN3AK20	chr22:31739026-31740413	MCF-7	breast:	n/a	n/a
9	POLR2A	chr22:31738926-31740685	MCF10A-Er-Src	breast:	n/a	n/a
10	ATF2	chr22:31738736-31740519	H1-hESC	embryonic stem cell:	n/a	chr22:31740483-31740497
11	POLR2A	chr22:31738864-31740043	HUVEC	blood vessel:	n/a	n/a
12	FOXM1	chr22:31739094-31740310	ECC-1	luminal epithelium:	n/a	n/a
13	POLR2A	chr22:31738983-31744048	GM12891	blood:	n/a	n/a
14	POLR2A	chr22:31738491-31739657	H1-hESC	embryonic stem cell:	n/a	n/a
15	E2F6	chr22:31739156-31739638	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr22:31738601-31739660	MCF-7	breast:	n/a	n/a
17	MAX	chr22:31739122-31739815	MCF-7	breast:	n/a	n/a
18	NFIC	chr22:31739113-31740314	ECC-1	luminal epithelium:	n/a	n/a
19	JUN	chr22:31739063-31739540	H1-hESC	embryonic stem cell:	n/a	n/a
20	MAX	chr22:31739170-31741007	ECC-1	luminal epithelium:	n/a	chr22:31739995-31740004
21	MAX	chr22:31739110-31741251	ECC-1	luminal epithelium:	n/a	chr22:31739995-31740004
22	JUND	chr22:31739127-31739581	H1-hESC	embryonic stem cell:	n/a	n/a
23	ZBTB7A	chr22:31739050-31739772	ECC-1	luminal epithelium:	n/a	n/a
24	ZBTB7A	chr22:31738841-31739680	ECC-1	luminal epithelium:	n/a	n/a
25	TEAD4	chr22:31739215-31739650	H1-hESC	embryonic stem cell:	n/a	n/a
26	ELK1	chr22:31739117-31739234	GM12878	blood:	n/a	n/a
27	POLR2A	chr22:31737335-31744213	H1-hESC	embryonic stem cell:	n/a	n/a
28	EGR1	chr22:31739169-31739789	MCF-7	breast:	n/a	n/a
29	POLR2A	chr22:31738110-31744074	ECC-1	luminal epithelium:	n/a	n/a
30	E2F6	chr22:31739129-31740199	H1-hESC	embryonic stem cell:	n/a	chr22:31739975-31739987
31	POLR2A	chr22:31738623-31740068	HepG2	liver:	n/a	n/a
32	POLR2A	chr22:31738674-31739238	GM12878	blood:	n/a	n/a
33	POLR2A	chr22:31738448-31741255	HL-60	blood:	n/a	n/a
34	TEAD4	chr22:31739188-31739707	H1-hESC	embryonic stem cell:	n/a	n/a
35	HA-E2F1	chr22:31739024-31739925	MCF-7	breast:	n/a	n/a
36	PML	chr22:31739020-31739757	MCF-7	breast:	n/a	n/a
37	MAX	chr22:31739142-31739751	H1-hESC	embryonic stem cell:	n/a	n/a
38	SIN3A	chr22:31738497-31740584	H1-hESC	embryonic stem cell:	n/a	chr22:31738779-31738790
39	ELF1	chr22:31739167-31739731	MCF-7	breast:	n/a	n/a
40	GABPA	chr22:31739094-31740338	MCF-7	breast:	n/a	n/a
41	TCF12	chr22:31738981-31740352	ECC-1	luminal epithelium:	n/a	n/a
42	TAF1	chr22:31739155-31739691	ECC-1	luminal epithelium:	n/a	n/a
43	NR2F2	chr22:31739154-31739775	MCF-7	breast:	n/a	n/a
44	TAF1	chr22:31739055-31739643	H1-hESC	embryonic stem cell:	n/a	n/a
45	HEY1	chr22:31738878-31739338	HepG2	liver:	n/a	n/a
46	NFIC	chr22:31739062-31740327	ECC-1	luminal epithelium:	n/a	n/a
47	EP300	chr22:31738981-31740496	ECC-1	luminal epithelium:	n/a	chr22:31739980-31739996
48	POLR2A	chr22:31739221-31743910	MCF-7	breast:	n/a	n/a
49	REST	chr22:31738253-31739579	H1-neurons	neurons:	n/a	n/a
50	TAF7	chr22:31739036-31740170	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr22:31737150..31739439-chr22:31822511..31824172,2	MCF-7	breast:
2	chr22:31738670..31747056-chr22:31790500..31799012,36	MCF-7	breast:
3	chr22:31737798..31746418-chr22:31793074..31801662,34	MCF-7	breast:
4	chr22:31684664..31691252-chr22:31735490..31744100,29	MCF-7	breast:
5	chr22:31683915..31694680-chr22:31733392..31744713,34	MCF-7	breast:
6	chr22:31736945..31739713-chr22:32022907..32024552,2	MCF-7	breast:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PIK3IP1-1	chr22:31738883-31739577	NONHSAT084880

No data

Variant related genes	Relation type
ENSG00000213888	TF binding region
ENSG00000185721	Chromatin interaction
ENSG00000241878	Chromatin interaction
ENSG00000228839	Chromatin interaction
ENSG00000100100	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12157806	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12158662	0.87[AFR][1000 genomes]
rs28639919	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34930775	0.90[EUR][1000 genomes]
rs5997890	1.00[YRI][hapmap]
rs5997964	1.00[AMR][1000 genomes]
rs8138024	0.81[EUR][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	nsv834176	chr22:31682426-31864701	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
2	esv3333136	chr22:31704947-31758417	Active TSS Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription 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	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:31721600-31739400	Weak transcription	Psoas Muscle	Psoas
2	chr22:31731200-31739600	Weak transcription	K562	blood
3	chr22:31733200-31739400	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr22:31735800-31739400	Genic enhancers	Primary B cells from peripheral blood	blood
5	chr22:31735800-31739600	Genic enhancers	Skeletal Muscle Female	skeletal muscle
6	chr22:31735800-31740000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr22:31735800-31741200	Genic enhancers	Spleen	Spleen
8	chr22:31736600-31739400	Transcr. at gene 5' and 3'	Fetal Brain Female	brain
9	chr22:31737000-31739400	Weak transcription	NHDF-Ad	bronchial
10	chr22:31737000-31739600	Enhancers	Stomach Mucosa	stomach
11	chr22:31737000-31739800	Transcr. at gene 5' and 3'	Brain Germinal Matrix	brain
12	chr22:31737200-31739800	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
13	chr22:31737800-31740800	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr22:31737800-31741400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
15	chr22:31738000-31739400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr22:31738000-31740800	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
17	chr22:31738000-31741200	Transcr. at gene 5' and 3'	Fetal Intestine Large	intestine
18	chr22:31738000-31741600	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr22:31738200-31739400	Transcr. at gene 5' and 3'	Thymus	Thymus
20	chr22:31738200-31741000	Transcr. at gene 5' and 3'	Fetal Lung	lung
21	chr22:31738200-31741200	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr22:31738200-31741200	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
23	chr22:31738200-31741400	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
24	chr22:31738200-31741800	Transcr. at gene 5' and 3'	Dnd41	blood
25	chr22:31738400-31739600	Transcr. at gene 5' and 3'	Primary T cells from cord blood	blood
26	chr22:31738400-31739600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
27	chr22:31738400-31740200	Active TSS	Fetal Kidney	kidney
28	chr22:31738400-31740400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr22:31738400-31741200	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
30	chr22:31738400-31741200	Transcr. at gene 5' and 3'	Primary T helper cells PMA-I stimulated	--
31	chr22:31738400-31741200	Transcr. at gene 5' and 3'	Fetal Muscle Leg	muscle
32	chr22:31738400-31741600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
33	chr22:31738400-31743800	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr22:31738600-31739400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr22:31738600-31739600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr22:31738600-31740200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr22:31738600-31740200	Weak transcription	Aorta	Aorta
38	chr22:31738600-31740800	Transcr. at gene 5' and 3'	Primary T regulatory cells fromperipheralblood	blood
39	chr22:31738600-31740800	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
40	chr22:31738600-31741200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr22:31738600-31741200	Transcr. at gene 5' and 3'	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr22:31738600-31741200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr22:31738600-31741200	Transcr. at gene 5' and 3'	Fetal Thymus	thymus
44	chr22:31738600-31741200	Enhancers	Placenta Amnion	Placenta Amnion
45	chr22:31738600-31741600	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr22:31738800-31739400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr22:31738800-31739400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr22:31738800-31739800	Genic enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr22:31738800-31740200	Enhancers	Primary neutrophils fromperipheralblood	blood
50	chr22:31738800-31740600	Enhancers	Right Atrium	heart

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