Variant report

Variant	rs416661
Chromosome Location	chr22:22030271-22030272
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:22028092..22030504-chr22:22298642..22300750,2	K562	blood:
2	chr22:22020123..22021841-chr22:22030160..22032394,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100023	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:46)

rs_ID	r²[population]
rs11705259	1.00[MKK][hapmap]
rs1210390	0.84[ASN][1000 genomes]
rs1210407	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1210408	0.91[ASN][1000 genomes]
rs1210412	1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs34592211	1.00[ASW][hapmap]
rs35445502	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs366026	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs368351	0.86[ASN][1000 genomes]
rs372108	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs372150	0.87[ASN][1000 genomes]
rs374659	0.93[JPT][hapmap];0.87[ASN][1000 genomes]
rs3747091	1.00[ASW][hapmap]
rs379591	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs381713	0.88[CHB][hapmap];0.93[JPT][hapmap]
rs384262	0.81[JPT][hapmap]
rs384422	0.81[ASN][1000 genomes]
rs388113	0.86[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs390720	1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs391324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs394073	0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs395006	0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs402225	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs402548	0.82[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs409796	0.90[ASN][1000 genomes]
rs412596	0.93[JPT][hapmap];0.85[ASN][1000 genomes]
rs425046	0.85[AMR][1000 genomes]
rs428595	0.88[CHB][hapmap];0.93[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs429623	0.89[ASN][1000 genomes]
rs433704	0.81[JPT][hapmap]
rs436570	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs443845	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs447001	0.81[JPT][hapmap]
rs451422	1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs452649	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs5754787	0.87[AMR][1000 genomes]
rs5754798	0.87[JPT][hapmap]
rs710169	1.00[AMR][1000 genomes]
rs710170	1.00[AMR][1000 genomes]
rs710173	0.87[AMR][1000 genomes]
rs861815	1.00[AMR][1000 genomes]
rs861817	1.00[ASW][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap]
rs861819	0.94[JPT][hapmap];1.00[AMR][1000 genomes]
rs861822	1.00[AMR][1000 genomes]
rs9607209	1.00[MKK][hapmap]
rs9607210	1.00[MKK][hapmap]

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	chr22:22021400-22032000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr22:22021400-22035200	Weak transcription	Stomach Mucosa	stomach
3	chr22:22021400-22036600	Weak transcription	A549	lung
4	chr22:22022000-22055600	Weak transcription	Fetal Brain Male	brain
5	chr22:22022200-22030600	Strong transcription	Fetal Stomach	stomach
6	chr22:22022200-22053200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr22:22023400-22030600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr22:22023400-22030600	Strong transcription	Duodenum Mucosa	Duodenum
9	chr22:22023400-22030600	Strong transcription	Fetal Muscle Leg	muscle
10	chr22:22023400-22030800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr22:22023400-22031000	Strong transcription	Duodenum Smooth Muscle	Duodenum
12	chr22:22023400-22031200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr22:22023400-22032400	Strong transcription	Lung	lung
14	chr22:22023400-22034000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr22:22023600-22030400	Strong transcription	HUES64 Cell Line	embryonic stem cell
16	chr22:22023600-22030400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
17	chr22:22023600-22030400	Strong transcription	Primary B cells from cord blood	blood
18	chr22:22023600-22030400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
19	chr22:22023600-22030400	Strong transcription	Brain Cingulate Gyrus	brain
20	chr22:22023600-22030600	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr22:22023600-22030600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr22:22023600-22030600	Strong transcription	Adipose Nuclei	Adipose
23	chr22:22023600-22030600	Strong transcription	Fetal Muscle Trunk	muscle
24	chr22:22023600-22030600	Strong transcription	Rectal Smooth Muscle	rectum
25	chr22:22023600-22030600	Strong transcription	Skeletal Muscle Male	skeletal muscle
26	chr22:22023600-22030600	Strong transcription	K562	blood
27	chr22:22023600-22030800	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr22:22023600-22032600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr22:22023600-22032600	Strong transcription	Thymus	Thymus
30	chr22:22023600-22032800	Strong transcription	Spleen	Spleen
31	chr22:22023800-22030400	Strong transcription	Brain Germinal Matrix	brain
32	chr22:22023800-22030600	Strong transcription	Primary T cells from cord blood	blood
33	chr22:22023800-22030600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr22:22023800-22030600	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr22:22023800-22030600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr22:22023800-22030800	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
37	chr22:22023800-22030800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr22:22023800-22030800	Strong transcription	Ovary	ovary
39	chr22:22024000-22030600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr22:22024000-22030600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr22:22024000-22030600	Strong transcription	Primary B cells from peripheral blood	blood
42	chr22:22024000-22030600	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr22:22024000-22030600	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr22:22024000-22030800	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr22:22024000-22032000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
46	chr22:22024000-22033000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr22:22024000-22033400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr22:22024200-22030400	Strong transcription	Brain Anterior Caudate	brain
49	chr22:22024200-22030400	Strong transcription	Fetal Intestine Large	intestine
50	chr22:22024200-22030400	Strong transcription	NHLF	lung

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