Variant report

Variant	rs174775
Chromosome Location	chr22:29791234-29791235
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29791047..29793663-chr22:29794223..29797120,2	MCF-7	breast:
2	chr22:29790656..29791686-chr22:29920171..29921137,10	MCF-7	breast:
3	chr22:29771666..29773871-chr22:29789734..29792185,2	MCF-7	breast:
4	chr22:29784558..29786360-chr22:29786552..29791390,4	MCF-7	breast:
5	chr22:29790720..29791562-chr22:29920209..29921282,4	MCF-7	breast:
6	chr22:29786384..29789088-chr22:29790926..29793690,2	K562	blood:

Variant related genes	Relation type
ENSG00000100280	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs11090564	0.83[CHD][hapmap]
rs140062	0.81[CHD][hapmap];0.83[GIH][hapmap];1.00[LWK][hapmap]
rs140063	0.86[AFR][1000 genomes]
rs174762	0.83[CHD][hapmap]
rs174764	0.83[CHD][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap]
rs174766	0.86[CHD][hapmap]
rs174769	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs174770	0.88[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs174771	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2071578	0.83[CHD][hapmap]
rs2072051	0.92[CEU][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2267132	0.88[JPT][hapmap]
rs2267133	0.92[CEU][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.96[MEX][hapmap];0.95[TSI][hapmap]
rs2267137	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2283850	0.92[CEU][hapmap];0.82[JPT][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3788410	0.81[GIH][hapmap]
rs3788411	0.83[CHD][hapmap];0.81[GIH][hapmap];0.87[MEX][hapmap]
rs5752903	0.89[ASW][hapmap];0.88[CEU][hapmap];0.84[CHD][hapmap];0.91[GIH][hapmap];0.88[JPT][hapmap];0.91[MEX][hapmap];0.93[TSI][hapmap];0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5763178	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs715494	0.92[CEU][hapmap];0.86[CHD][hapmap];0.89[GIH][hapmap];0.82[JPT][hapmap];0.95[MEX][hapmap];0.95[TSI][hapmap];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs98069	0.86[CHD][hapmap];0.81[GIH][hapmap];0.83[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	nsv834171	chr22:29626402-29829844	Active TSS Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv914961	chr22:29755888-29817506	Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv914962	chr22:29755888-29823768	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
6	esv2580719	chr22:29759273-29816494	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
7	esv3498689	chr22:29763576-29812598	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
8	esv3498690	chr22:29763576-29812598	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS 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	8 gene(s)	inside rSNPs	diseases
9	esv3382633	chr22:29764347-29814462	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers 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	8 gene(s)	inside rSNPs	diseases
10	nsv459868	chr22:29767925-29807855	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
11	nsv459869	chr22:29767925-29807855	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
12	nsv588882	chr22:29767925-29807855	Genic enhancers Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
13	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
14	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
15	nsv821257	chr22:29783172-29794087	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	esv16905	chr22:29783258-29791250	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	esv10194	chr22:29783647-29794087	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	esv1795963	chr22:29783788-29791490	Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	esv1846367	chr22:29783788-29791490	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29785400-29792200	Weak transcription	Small Intestine	intestine
2	chr22:29789600-29792200	Weak transcription	Stomach Mucosa	stomach
3	chr22:29789800-29791400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr22:29790400-29791400	Enhancers	HepG2	liver
5	chr22:29790600-29791400	Enhancers	Primary B cells from peripheral blood	blood
6	chr22:29790600-29791400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr22:29790600-29791400	Enhancers	GM12878-XiMat	blood
8	chr22:29790600-29791600	Enhancers	Duodenum Mucosa	Duodenum
9	chr22:29790800-29791400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr22:29790800-29791400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr22:29790800-29791400	Enhancers	Primary B cells from cord blood	blood
12	chr22:29790800-29791400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr22:29790800-29791400	Enhancers	Primary T helper naive cells from peripheral blood	blood
14	chr22:29790800-29791400	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr22:29790800-29791400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr22:29790800-29791400	Enhancers	Adipose Nuclei	Adipose
17	chr22:29790800-29791400	Enhancers	Liver	Liver
18	chr22:29790800-29791400	Enhancers	Brain Anterior Caudate	brain
19	chr22:29790800-29791400	Enhancers	Brain Substantia Nigra	brain
20	chr22:29790800-29791400	Enhancers	Pancreas	Pancrea
21	chr22:29790800-29791400	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr22:29790800-29791400	Enhancers	Dnd41	blood
23	chr22:29790800-29791400	Enhancers	K562	blood
24	chr22:29790800-29791400	Enhancers	Monocytes-CD14+_RO01746	blood
25	chr22:29791000-29791400	Enhancers	Primary T cells fromperipheralblood	blood
26	chr22:29791000-29791400	Enhancers	Brain Inferior Temporal Lobe	brain
27	chr22:29791000-29791400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr22:29791000-29791400	Enhancers	Fetal Stomach	stomach
29	chr22:29791200-29791400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
30	chr22:29791200-29791400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr22:29791200-29791400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr22:29791200-29791400	Enhancers	Fetal Intestine Large	intestine
33	chr22:29791200-29791400	Enhancers	Fetal Intestine Small	intestine
34	chr22:29791200-29791400	Enhancers	Fetal Thymus	thymus
35	chr22:29791200-29791400	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr22:29791200-29791400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr22:29791200-29791600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr22:29791200-29791600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr22:29791200-29791600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr22:29791200-29791800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr22:29791200-29792400	Enhancers	Colon Smooth Muscle	Colon
42	chr22:29791200-29792600	Enhancers	Rectal Smooth Muscle	rectum

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