Variant report

Variant	rs11703445
Chromosome Location	chr22:22036200-22036201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GABPA	chr22:22035237-22036423	K562	blood:	n/a	n/a
2	NFIC	chr22:22036105-22036632	ECC-1	luminal epithelium:	n/a	n/a
3	HDAC2	chr22:22036196-22036463	K562	blood:	n/a	n/a
4	MAX	chr22:22036165-22036533	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr22:22035052-22038610	K562	blood:	n/a	n/a
6	HEY1	chr22:22036194-22036575	K562	blood:	n/a	n/a
7	POLR2A	chr22:22035368-22036554	K562	blood:	n/a	n/a
8	POLR2A	chr22:22035074-22038201	K562	blood:	n/a	n/a
9	POLR2A	chr22:22035458-22036778	K562	blood:	n/a	n/a
10	POLR2A	chr22:22035737-22038029	K562	blood:	n/a	n/a
11	EGR1	chr22:22035947-22036602	K562	blood:	n/a	n/a
12	HEY1	chr22:22036163-22036518	K562	blood:	n/a	n/a
13	EGR1	chr22:22036169-22036651	K562	blood:	n/a	n/a
14	POLR2A	chr22:22035867-22036338	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:22026552..22029197-chr22:22033655..22036468,4	MCF-7	breast:
2	chr22:22035151..22037450-chr22:22190171..22191825,2	K562	blood:

No data

Variant related genes	Relation type
PPIL2	TF binding region
ENSG00000100023	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10009	1.00[CHB][hapmap];0.86[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1045681	0.81[CEU][hapmap];1.00[CHB][hapmap];0.84[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.91[TSI][hapmap];0.86[YRI][hapmap];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs108816	0.91[ASW][hapmap];0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.93[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11089647	0.91[CEU][hapmap]
rs11089651	0.85[EUR][1000 genomes]
rs11089685	0.86[AMR][1000 genomes]
rs11705326	0.83[EUR][1000 genomes]
rs11705530	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11912412	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11914240	1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap]
rs12170039	0.88[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.93[TSI][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16997333	1.00[JPT][hapmap];0.97[LWK][hapmap];0.88[MKK][hapmap];1.00[YRI][hapmap]
rs1811070	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1860	0.89[LWK][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs2034570	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2034572	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2070504	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2278118	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2840341	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3209602	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs3747094	0.82[ASW][hapmap];0.81[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.84[GIH][hapmap];0.86[JPT][hapmap];0.94[LWK][hapmap];0.85[MEX][hapmap];0.93[TSI][hapmap];0.86[YRI][hapmap]
rs3747095	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3788329	0.91[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3804071	0.91[CEU][hapmap];0.89[CHB][hapmap]
rs384262	0.88[CEU][hapmap]
rs433704	0.88[CEU][hapmap]
rs45502092	0.86[EUR][1000 genomes]
rs4821168	0.87[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56108061	0.83[AMR][1000 genomes]
rs56387230	0.98[ASN][1000 genomes]
rs5998956	0.87[EUR][1000 genomes]
rs62235078	0.82[EUR][1000 genomes]
rs62235097	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62235098	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62235099	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62235101	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710172	0.89[LWK][hapmap];0.91[TSI][hapmap];0.80[EUR][1000 genomes]
rs7285365	1.00[JPT][hapmap];0.95[YRI][hapmap]
rs7285388	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7286619	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7291614	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73149915	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs741617	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8139619	1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[YRI][hapmap]
rs8142802	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861812	0.98[ASN][1000 genomes]
rs861813	0.89[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs861816	0.88[AFR][1000 genomes]
rs861836	0.85[EUR][1000 genomes]
rs915724	0.87[CEU][hapmap];1.00[JPT][hapmap];0.95[YRI][hapmap];0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9941935	1.00[CEU][hapmap];0.82[GIH][hapmap];0.85[MEX][hapmap];0.95[TSI][hapmap];0.86[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv914458	chr22:21747678-22070489	Enhancers Flanking Active TSS Active TSS Weak transcription 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 miRNA target site	387 gene(s)	inside rSNPs	diseases
2	esv1823866	chr22:21928916-22131125	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	374 gene(s)	inside rSNPs	diseases
3	nsv948603	chr22:21928916-22601814	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	422 gene(s)	inside rSNPs	diseases
4	nsv948902	chr22:21928916-22657900	Weak transcription Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	426 gene(s)	inside rSNPs	diseases
5	nsv1063962	chr22:21939722-22934593	Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
6	nsv1058617	chr22:21939922-22934454	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	477 gene(s)	inside rSNPs	diseases
7	nsv529694	chr22:21957411-22905068	Enhancers Genic enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer 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	474 gene(s)	inside rSNPs	diseases
8	nsv914464	chr22:21964761-22039863	Genic enhancers Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	367 gene(s)	inside rSNPs	diseases
9	nsv914465	chr22:21964761-22055280	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
10	nsv914466	chr22:21964761-22057273	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
11	nsv531797	chr22:21977700-22959729	Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	476 gene(s)	inside rSNPs	diseases
12	nsv914467	chr22:21982892-22055280	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	363 gene(s)	inside rSNPs	diseases
13	nsv914468	chr22:21982892-22070489	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	365 gene(s)	inside rSNPs	diseases
14	nsv1066403	chr22:22010822-22352262	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
15	nsv510804	chr22:22024531-22132764	Weak transcription Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11703445	SLC7A4	cis	parietal	SCAN

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22021400-22036600	Weak transcription	A549	lung
2	chr22:22022000-22055600	Weak transcription	Fetal Brain Male	brain
3	chr22:22022200-22053200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr22:22024400-22053200	Strong transcription	Placenta	Placenta
5	chr22:22024800-22052200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr22:22026000-22040800	Weak transcription	Hela-S3	cervix
7	chr22:22026600-22054200	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr22:22026800-22040800	Weak transcription	NHDF-Ad	bronchial
9	chr22:22027000-22049200	Weak transcription	Fetal Heart	heart
10	chr22:22027000-22055800	Weak transcription	Fetal Kidney	kidney
11	chr22:22027200-22039000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr22:22027200-22045800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr22:22027600-22051000	Weak transcription	Psoas Muscle	Psoas
14	chr22:22029600-22036400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr22:22030200-22036800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr22:22030400-22036600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr22:22030400-22037000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr22:22030400-22040800	Weak transcription	Pancreatic Islets	Pancreatic Islet
19	chr22:22030400-22040800	Weak transcription	Fetal Lung	lung
20	chr22:22030400-22046200	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr22:22030400-22051600	Weak transcription	NH-A	brain
22	chr22:22030600-22036200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr22:22030600-22036800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr22:22030600-22039000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr22:22030600-22039200	Weak transcription	Small Intestine	intestine
26	chr22:22030600-22039400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr22:22030600-22047800	Weak transcription	HUVEC	blood vessel
28	chr22:22031400-22058400	Strong transcription	Fetal Intestine Small	intestine
29	chr22:22031600-22058400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr22:22032000-22052800	Strong transcription	Fetal Stomach	stomach
31	chr22:22032200-22048000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr22:22032200-22049400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr22:22032200-22056600	Strong transcription	Primary T cells from cord blood	blood
34	chr22:22032200-22065200	Strong transcription	Fetal Thymus	thymus
35	chr22:22032400-22039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr22:22032400-22039400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr22:22032400-22052400	Strong transcription	Fetal Intestine Large	intestine
38	chr22:22032600-22039000	Weak transcription	Right Atrium	heart
39	chr22:22032800-22036400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr22:22033400-22065800	Strong transcription	Thymus	Thymus
41	chr22:22033800-22052800	Strong transcription	Duodenum Mucosa	Duodenum
42	chr22:22034200-22042400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr22:22034200-22043200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr22:22034200-22044400	Strong transcription	Skeletal Muscle Female	skeletal muscle
45	chr22:22034200-22053000	Strong transcription	Lung	lung
46	chr22:22034400-22036200	Strong transcription	HSMM	muscle
47	chr22:22034400-22037600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr22:22034400-22039200	Strong transcription	Fetal Muscle Leg	muscle
49	chr22:22034400-22041000	Strong transcription	Gastric	stomach
50	chr22:22034400-22044400	Strong transcription	Stomach Smooth Muscle	stomach

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