Variant report

Variant	rs1210407
Chromosome Location	chr22:22023330-22023331
allele	G/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	MAX	chr22:22023278-22023728	MCF-7	breast:	n/a	n/a
2	POLR2A	chr22:22023284-22023838	K562	blood:	n/a	n/a
3	SIN3AK20	chr22:22023307-22023884	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:22022905..22026953-chr22:22292276..22294623,3	K562	blood:

Variant related genes	Relation type
PPIL2	TF binding region
ENSG00000224086	Chromatin interaction
ENSG00000100034	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1210390	0.89[ASN][1000 genomes]
rs1210408	0.85[ASN][1000 genomes]
rs1210412	1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs35445502	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs366026	0.87[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs368351	0.92[ASN][1000 genomes]
rs372108	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs372150	0.93[ASN][1000 genomes]
rs374659	0.93[ASN][1000 genomes]
rs379591	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs384262	0.81[ASN][1000 genomes]
rs384422	0.87[ASN][1000 genomes]
rs388113	1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs390720	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs391324	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs394073	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs395006	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs402225	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs402548	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs403865	0.85[ASN][1000 genomes]
rs409153	0.84[ASN][1000 genomes]
rs409796	0.96[ASN][1000 genomes]
rs412596	0.91[ASN][1000 genomes]
rs416661	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs425046	0.85[AMR][1000 genomes]
rs428595	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs429623	0.95[ASN][1000 genomes]
rs433704	0.81[ASN][1000 genomes]
rs436570	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs443845	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs447001	0.80[ASN][1000 genomes]
rs451422	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs452649	1.00[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs5754787	0.87[AMR][1000 genomes]
rs710169	1.00[AMR][1000 genomes]
rs710170	1.00[AMR][1000 genomes]
rs710173	0.87[AMR][1000 genomes]
rs861815	1.00[AMR][1000 genomes]
rs861819	1.00[AMR][1000 genomes]
rs861822	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:22021000-22023600	Weak transcription	Spleen	Spleen
2	chr22:22021200-22023800	Weak transcription	Ovary	ovary
3	chr22:22021200-22025000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:22021200-22025000	Weak transcription	Aorta	Aorta
5	chr22:22021200-22025200	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr22:22021400-22023400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr22:22021400-22023600	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr22:22021400-22023600	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr22:22021400-22023600	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr22:22021400-22023600	Weak transcription	Brain Cingulate Gyrus	brain
11	chr22:22021400-22023600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr22:22021400-22023600	Weak transcription	Thymus	Thymus
13	chr22:22021400-22023800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr22:22021400-22023800	Weak transcription	Brain Germinal Matrix	brain
15	chr22:22021400-22024000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr22:22021400-22024000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr22:22021400-22024000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:22021400-22024000	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr22:22021400-22024000	Weak transcription	HMEC	breast
20	chr22:22021400-22024000	Weak transcription	HSMM	muscle
21	chr22:22021400-22024000	Weak transcription	NHEK	skin
22	chr22:22021400-22024200	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr22:22021400-22024200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr22:22021400-22024200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr22:22021400-22024200	Weak transcription	Liver	Liver
26	chr22:22021400-22024200	Weak transcription	Brain Angular Gyrus	brain
27	chr22:22021400-22024200	Weak transcription	Brain Anterior Caudate	brain
28	chr22:22021400-22024200	Weak transcription	Brain Hippocampus Middle	brain
29	chr22:22021400-22024200	Weak transcription	HSMMtube	muscle
30	chr22:22021400-22024200	Weak transcription	HUVEC	blood vessel
31	chr22:22021400-22024200	Weak transcription	NHLF	lung
32	chr22:22021400-22024600	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr22:22021400-22024600	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr22:22021400-22024800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr22:22021400-22024800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr22:22021400-22024800	Weak transcription	Muscle Satellite Cultured Cells	--
37	chr22:22021400-22024800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr22:22021400-22024800	Weak transcription	Fetal Brain Female	brain
39	chr22:22021400-22024800	Weak transcription	Fetal Heart	heart
40	chr22:22021400-22024800	Weak transcription	Right Atrium	heart
41	chr22:22021400-22024800	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr22:22021400-22024800	Weak transcription	NH-A	brain
43	chr22:22021400-22024800	Weak transcription	NHDF-Ad	bronchial
44	chr22:22021400-22024800	Weak transcription	Osteobl	bone
45	chr22:22021400-22025000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr22:22021400-22025000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr22:22021400-22025000	Weak transcription	Colonic Mucosa	Colon
48	chr22:22021400-22025000	Weak transcription	Gastric	stomach
49	chr22:22021400-22025000	Weak transcription	Right Ventricle	heart
50	chr22:22021400-22025000	Weak transcription	Small Intestine	intestine

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