Variant report

Variant	rs4820794
Chromosome Location	chr22:29433095-29433096
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29427122..29429639-chr22:29432202..29434888,3	K562	blood:
2	chr22:29431412..29433153-chr22:29435602..29438257,2	MCF-7	breast:
3	chr22:29432585..29435397-chr22:29443642..29445471,2	K562	blood:
4	chr22:29249117..29251887-chr22:29432294..29434914,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000177993	Chromatin interaction

Extended variants
information (count: 60 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:58)

rs_ID	r²[population]
rs12484832	0.96[CEU][hapmap];0.87[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12485244	0.86[EUR][1000 genomes]
rs132565	0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs17440734	0.92[CEU][hapmap]
rs1883197	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1977047	0.84[EUR][1000 genomes]
rs1983553	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2064084	0.96[CEU][hapmap]
rs2072774	0.96[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2103544	0.90[EUR][1000 genomes]
rs2347789	0.81[EUR][1000 genomes]
rs2347790	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs28541979	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4140643	1.00[CEU][hapmap];0.86[YRI][hapmap];0.97[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs4333023	0.81[EUR][1000 genomes]
rs4404379	0.83[EUR][1000 genomes]
rs4580479	0.83[ASN][1000 genomes]
rs469994	0.93[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.80[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4823002	0.96[CEU][hapmap];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs4823003	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs4823005	0.96[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs5997430	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs5997431	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs5997432	0.85[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5997433	0.96[CEU][hapmap];0.83[CHB][hapmap];0.89[EUR][1000 genomes]
rs5997434	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs5997435	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6005954	0.84[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6005955	1.00[CEU][hapmap];0.87[YRI][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6005956	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs6005958	0.96[CEU][hapmap];0.82[EUR][1000 genomes]
rs6005959	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6005964	0.93[CEU][hapmap];0.81[EUR][1000 genomes]
rs6005965	0.93[CEU][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6005967	0.96[CEU][hapmap];0.89[EUR][1000 genomes]
rs713834	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs727892	0.92[CEU][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7284304	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7287517	0.90[EUR][1000 genomes]
rs7290304	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.84[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs738246	0.96[CEU][hapmap];0.82[JPT][hapmap];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8137254	1.00[CEU][hapmap];0.83[CHB][hapmap];0.83[YRI][hapmap];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs8137499	0.93[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs8142591	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs874915	0.85[EUR][1000 genomes]
rs874916	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs874917	0.85[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9608719	0.96[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs9608720	0.83[CEU][hapmap]
rs9608721	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9613771	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes]
rs9613776	1.00[CEU][hapmap];0.97[YRI][hapmap];0.90[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs9613777	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs9613780	0.83[CEU][hapmap]
rs9613782	0.82[CEU][hapmap]
rs9613784	0.89[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9613785	0.96[CEU][hapmap];0.86[JPT][hapmap];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs964589	0.96[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064079	chr22:29065528-29456059	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
2	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

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29427400-29448400	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr22:29427800-29436600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr22:29427800-29451400	Weak transcription	Psoas Muscle	Psoas
4	chr22:29428000-29441800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr22:29428200-29434600	Genic enhancers	HepG2	liver
6	chr22:29428200-29436400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr22:29428400-29436400	Weak transcription	NHEK	skin
8	chr22:29428400-29436600	Weak transcription	K562	blood
9	chr22:29428600-29433200	Weak transcription	Duodenum Mucosa	Duodenum
10	chr22:29428600-29440400	Weak transcription	Esophagus	oesophagus
11	chr22:29428600-29440800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr22:29428800-29436400	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr22:29428800-29436400	Weak transcription	Left Ventricle	heart
14	chr22:29428800-29436600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr22:29428800-29436600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr22:29428800-29443600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr22:29429000-29433200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr22:29429000-29433200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr22:29429000-29433600	Weak transcription	Placenta	Placenta
20	chr22:29429000-29435000	Weak transcription	Fetal Muscle Leg	muscle
21	chr22:29429000-29436400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr22:29429000-29436400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr22:29429000-29436400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr22:29429000-29436400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr22:29429000-29436400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr22:29429000-29436400	Weak transcription	Brain Anterior Caudate	brain
27	chr22:29429000-29436400	Weak transcription	Fetal Lung	lung
28	chr22:29429000-29436400	Weak transcription	Stomach Smooth Muscle	stomach
29	chr22:29429000-29436400	Weak transcription	HSMMtube	muscle
30	chr22:29429000-29436600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr22:29429000-29436600	Weak transcription	HUES6 Cell Line	embryonic stem cell
32	chr22:29429000-29436600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr22:29429000-29436600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr22:29429000-29436600	Weak transcription	Fetal Kidney	kidney
35	chr22:29429000-29436600	Weak transcription	Placenta Amnion	Placenta Amnion
36	chr22:29429000-29436800	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr22:29429000-29437000	Weak transcription	Fetal Heart	heart
38	chr22:29429000-29440600	Weak transcription	Colonic Mucosa	Colon
39	chr22:29429000-29444000	Weak transcription	Right Ventricle	heart
40	chr22:29429600-29433600	Weak transcription	Pancreas	Pancrea
41	chr22:29429600-29435200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr22:29429800-29439400	Weak transcription	Aorta	Aorta
43	chr22:29430200-29433600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr22:29430600-29435000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr22:29430800-29433200	Weak transcription	Stomach Mucosa	stomach
46	chr22:29432000-29433600	Enhancers	A549	lung
47	chr22:29432000-29438600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr22:29432200-29434200	Enhancers	Rectal Mucosa Donor 31	rectum
49	chr22:29432600-29434800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr22:29433000-29433200	Enhancers	Lung	lung

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