Variant report

Variant	rs2074732
Chromosome Location	chr22:30736147-30736148
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30733497..30738627-chr22:30739549..30742352,7	K562	blood:
2	chr22:30732348..30737677-chr22:30750921..30755238,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000099995	Chromatin interaction
ENSG00000187860	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1061660	0.81[CEU][hapmap]
rs12106618	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1476659	0.85[CEU][hapmap];0.88[GIH][hapmap]
rs1860217	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2072157	0.86[CEU][hapmap]
rs2074651	0.86[CEU][hapmap];0.82[CHB][hapmap]
rs2074733	0.82[ASW][hapmap];0.82[YRI][hapmap]
rs2240422	1.00[ASW][hapmap];0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.97[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2283865	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs28523826	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4820003	0.94[ASW][hapmap];0.95[CEU][hapmap];0.95[CHB][hapmap];0.93[GIH][hapmap];0.95[JPT][hapmap];0.95[LWK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5749090	0.82[CHB][hapmap]
rs5753083	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5753092	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753093	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs5753109	0.83[CHB][hapmap];0.91[JPT][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5753117	0.90[CEU][hapmap];0.86[CHB][hapmap];0.84[MEX][hapmap]
rs5997605	0.91[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5997628	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5997629	0.86[CEU][hapmap];0.86[CHB][hapmap];0.82[MEX][hapmap];0.82[AMR][1000 genomes]
rs5997641	0.86[CEU][hapmap];0.86[CHB][hapmap]
rs7292744	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73390209	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs757660	0.81[CEU][hapmap];0.82[CHB][hapmap];0.84[MEX][hapmap]
rs757870	0.95[CEU][hapmap];0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8138401	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829171	chr22:30598030-31043578	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	nsv914970	chr22:30619599-30850395	Active TSS Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv834174	chr22:30619760-30746915	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv3593	chr22:30705980-30751122	Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv915818	chr22:30708245-31346302	Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
6	nsv1064350	chr22:30724148-30742125	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	9 gene(s)	inside rSNPs	n/a
7	nsv1066179	chr22:30724148-30766466	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 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	chr22:30723600-30751600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr22:30723800-30742800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:30724400-30750000	Strong transcription	Thymus	Thymus
4	chr22:30724600-30750200	Strong transcription	Osteobl	bone
5	chr22:30724800-30745200	Strong transcription	NHEK	skin
6	chr22:30724800-30750200	Strong transcription	Fetal Intestine Small	intestine
7	chr22:30725400-30743400	Strong transcription	Fetal Stomach	stomach
8	chr22:30725400-30749600	Strong transcription	Primary neutrophils fromperipheralblood	blood
9	chr22:30725400-30750000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr22:30725600-30743600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr22:30725600-30744200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr22:30725600-30750200	Strong transcription	Fetal Intestine Large	intestine
13	chr22:30725800-30736800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr22:30725800-30740600	Strong transcription	Primary T helper cells fromperipheralblood	blood
15	chr22:30725800-30742600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr22:30725800-30743200	Strong transcription	Fetal Thymus	thymus
17	chr22:30725800-30748000	Strong transcription	Dnd41	blood
18	chr22:30726000-30743200	Strong transcription	Fetal Lung	lung
19	chr22:30726400-30740400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr22:30726400-30745400	Strong transcription	HSMM	muscle
21	chr22:30726400-30747000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr22:30726400-30749600	Strong transcription	Fetal Brain Female	brain
23	chr22:30726400-30749600	Strong transcription	Sigmoid Colon	Sigmoid Colon
24	chr22:30726400-30750200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:30726400-30750200	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr22:30726600-30740400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr22:30726600-30743000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
28	chr22:30726600-30743000	Strong transcription	Lung	lung
29	chr22:30726600-30743400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
30	chr22:30726600-30743400	Strong transcription	GM12878-XiMat	blood
31	chr22:30726600-30743600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr22:30726600-30744000	Strong transcription	Rectal Smooth Muscle	rectum
33	chr22:30726600-30744600	Strong transcription	Primary T cells from cord blood	blood
34	chr22:30726600-30744600	Strong transcription	Duodenum Smooth Muscle	Duodenum
35	chr22:30726600-30749200	Strong transcription	Primary B cells from peripheral blood	blood
36	chr22:30726600-30749600	Strong transcription	Primary B cells from cord blood	blood
37	chr22:30726600-30749800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr22:30726600-30750000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr22:30726600-30750000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr22:30726600-30750200	Strong transcription	HUES64 Cell Line	embryonic stem cell
41	chr22:30726600-30750400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr22:30726600-30750400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr22:30726600-30750400	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr22:30726600-30750600	Strong transcription	H9 Cell Line	embryonic stem cell
45	chr22:30726600-30750600	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr22:30726600-30750800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr22:30726600-30750800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
48	chr22:30726800-30737400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr22:30726800-30740800	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr22:30726800-30743200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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