Variant report

Variant	rs1647711
Chromosome Location	chr22:22037188-22037189
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	chr22:22036945-22037332	GM12878	blood:	n/a	chr22:22036960-22036979
2	POLR2A	chr22:22036951-22038038	K562	blood:	n/a	n/a
3	SP2	chr22:22036849-22037893	K562	blood:	n/a	n/a
4	POLR2A	chr22:22036921-22037413	K562	blood:	n/a	n/a
5	POLR2A	chr22:22035052-22038610	K562	blood:	n/a	n/a
6	POLR2A	chr22:22036787-22038292	K562	blood:	n/a	n/a
7	POLR2A	chr22:22035074-22038201	K562	blood:	n/a	n/a
8	POLR2A	chr22:22035737-22038029	K562	blood:	n/a	n/a
9	POLR2A	chr22:22037074-22037527	H1-neurons	neurons:	n/a	n/a
10	PAX5	chr22:22036946-22037428	GM12878	blood:	n/a	chr22:22036960-22036979

No.	Distal block	Cell Line	Cell type
1	chr22:21801362..21804188-chr22:22036295..22038184,2	K562	blood:
2	chr22:22036588..22038994-chr22:22048867..22051532,2	MCF-7	breast:
3	chr22:22035151..22037450-chr22:22190171..22191825,2	K562	blood:

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

Extended variants
information (count: 66 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10427813	1.00[ASN][1000 genomes]
rs1103229	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1647705	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1669119	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1669123	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17759598	1.00[ASN][1000 genomes]
rs17759796	1.00[ASN][1000 genomes]
rs17821327	0.93[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17821500	1.00[ASN][1000 genomes]
rs2019746	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs2845458	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28721456	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2876980	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs55649326	1.00[ASN][1000 genomes]
rs5999842	1.00[ASN][1000 genomes]
rs61757982	1.00[ASN][1000 genomes]
rs61763381	1.00[ASN][1000 genomes]
rs61763388	1.00[ASN][1000 genomes]
rs710171	0.89[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs710176	1.00[ASN][1000 genomes]
rs717121	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs73149918	1.00[ASN][1000 genomes]
rs73149929	1.00[ASN][1000 genomes]
rs8135616	1.00[CHB][hapmap]
rs8135758	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs8136405	1.00[ASN][1000 genomes]
rs8139395	1.00[ASN][1000 genomes]
rs8140233	1.00[ASN][1000 genomes]
rs8142650	1.00[ASN][1000 genomes]
rs861811	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861818	1.00[CEU][hapmap];1.00[CHB][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861820	0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861821	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861823	0.84[EUR][1000 genomes]
rs861825	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs861828	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861829	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861831	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861832	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861833	1.00[CEU][hapmap];1.00[CHB][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs861840	1.00[ASN][1000 genomes]
rs861841	1.00[ASN][1000 genomes]
rs861844	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs861845	1.00[ASN][1000 genomes]
rs861846	1.00[ASN][1000 genomes]
rs861850	1.00[CHB][hapmap]
rs861854	1.00[CHB][hapmap]
rs861855	1.00[CHB][hapmap]
rs861856	1.00[ASN][1000 genomes]
rs881091	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9607194	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][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

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22022000-22055600	Weak transcription	Fetal Brain Male	brain
2	chr22:22022200-22053200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:22024400-22053200	Strong transcription	Placenta	Placenta
4	chr22:22024800-22052200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr22:22026000-22040800	Weak transcription	Hela-S3	cervix
6	chr22:22026600-22054200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr22:22026800-22040800	Weak transcription	NHDF-Ad	bronchial
8	chr22:22027000-22049200	Weak transcription	Fetal Heart	heart
9	chr22:22027000-22055800	Weak transcription	Fetal Kidney	kidney
10	chr22:22027200-22039000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr22:22027200-22045800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr22:22027600-22051000	Weak transcription	Psoas Muscle	Psoas
13	chr22:22030400-22040800	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr22:22030400-22040800	Weak transcription	Fetal Lung	lung
15	chr22:22030400-22046200	Weak transcription	Muscle Satellite Cultured Cells	--
16	chr22:22030400-22051600	Weak transcription	NH-A	brain
17	chr22:22030600-22039000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr22:22030600-22039200	Weak transcription	Small Intestine	intestine
19	chr22:22030600-22039400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
20	chr22:22030600-22047800	Weak transcription	HUVEC	blood vessel
21	chr22:22031400-22058400	Strong transcription	Fetal Intestine Small	intestine
22	chr22:22031600-22058400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr22:22032000-22052800	Strong transcription	Fetal Stomach	stomach
24	chr22:22032200-22048000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr22:22032200-22049400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr22:22032200-22056600	Strong transcription	Primary T cells from cord blood	blood
27	chr22:22032200-22065200	Strong transcription	Fetal Thymus	thymus
28	chr22:22032400-22039200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr22:22032400-22039400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr22:22032400-22052400	Strong transcription	Fetal Intestine Large	intestine
31	chr22:22032600-22039000	Weak transcription	Right Atrium	heart
32	chr22:22033400-22065800	Strong transcription	Thymus	Thymus
33	chr22:22033800-22052800	Strong transcription	Duodenum Mucosa	Duodenum
34	chr22:22034200-22042400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr22:22034200-22043200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
36	chr22:22034200-22044400	Strong transcription	Skeletal Muscle Female	skeletal muscle
37	chr22:22034200-22053000	Strong transcription	Lung	lung
38	chr22:22034400-22037600	Strong transcription	Fetal Muscle Trunk	muscle
39	chr22:22034400-22039200	Strong transcription	Fetal Muscle Leg	muscle
40	chr22:22034400-22041000	Strong transcription	Gastric	stomach
41	chr22:22034400-22044400	Strong transcription	Stomach Smooth Muscle	stomach
42	chr22:22034400-22044600	Strong transcription	Skeletal Muscle Male	skeletal muscle
43	chr22:22034400-22046400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr22:22034400-22053600	Strong transcription	Rectal Mucosa Donor 29	rectum
45	chr22:22034400-22054600	Strong transcription	Cortex derived primary cultured neurospheres	brain
46	chr22:22034400-22055800	Strong transcription	Monocytes-CD14+_RO01746	blood
47	chr22:22034600-22043600	Strong transcription	Brain Hippocampus Middle	brain
48	chr22:22034600-22044800	Strong transcription	Esophagus	oesophagus
49	chr22:22034600-22046600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr22:22034600-22052200	Strong transcription	Rectal Mucosa Donor 31	rectum

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