Variant report

Variant	rs1983553
Chromosome Location	chr22:29435397-29435398
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29433708..29435584-chr22:29637138..29639967,2	K562	blood:
2	chr22:29186382..29188541-chr22:29433389..29436564,3	MCF-7	breast:
3	chr22:29280249..29282213-chr22:29433685..29436671,2	MCF-7	breast:
4	chr22:29432585..29435397-chr22:29443642..29445471,2	K562	blood:
5	chr22:29433370..29436929-chr22:29445281..29448151,3	K562	blood:
6	chr22:29194176..29195986-chr22:29434499..29436616,2	MCF-7	breast:

Extended variants
information (count: 52 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12484832	0.92[CEU][hapmap];0.87[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs132565	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17440734	0.96[CEU][hapmap];0.80[YRI][hapmap]
rs1883197	0.87[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2064084	1.00[CEU][hapmap];0.96[YRI][hapmap];0.81[EUR][1000 genomes]
rs2072774	0.96[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2103544	0.83[EUR][1000 genomes]
rs2347790	0.96[CEU][hapmap]
rs28541979	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4140643	0.96[CEU][hapmap];0.82[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs4580479	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs469994	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4820794	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]
rs4823002	0.93[CEU][hapmap];0.83[AMR][1000 genomes]
rs4823003	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4823005	1.00[CEU][hapmap];0.96[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs5997430	0.83[EUR][1000 genomes]
rs5997431	0.84[EUR][1000 genomes]
rs5997432	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5997433	1.00[CEU][hapmap];0.83[CHB][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5997434	0.87[EUR][1000 genomes]
rs5997435	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6005954	0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6005955	0.96[CEU][hapmap]
rs6005956	0.96[CEU][hapmap]
rs6005958	1.00[CEU][hapmap];0.87[EUR][1000 genomes]
rs6005959	0.84[EUR][1000 genomes]
rs6005964	0.96[CEU][hapmap];0.83[YRI][hapmap];0.86[EUR][1000 genomes]
rs6005965	0.96[CEU][hapmap];0.87[JPT][hapmap];0.96[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6005967	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs713834	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs727892	0.96[CEU][hapmap];0.86[JPT][hapmap];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7284304	0.84[EUR][1000 genomes]
rs7287517	0.83[EUR][1000 genomes]
rs7290304	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.92[YRI][hapmap];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs738246	0.92[CEU][hapmap];0.82[JPT][hapmap];0.82[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8137254	0.96[CEU][hapmap];0.83[CHB][hapmap];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs8137499	0.96[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.93[YRI][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs8142591	0.80[EUR][1000 genomes]
rs874916	0.80[EUR][1000 genomes]
rs874917	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9608719	0.93[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap];0.83[AMR][1000 genomes];0.82[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9608720	0.80[CEU][hapmap]
rs9608721	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9613776	0.96[CEU][hapmap];0.84[EUR][1000 genomes]
rs9613777	0.96[CEU][hapmap];0.81[EUR][1000 genomes]
rs9613780	0.80[CEU][hapmap]
rs9613784	0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9613785	0.93[CEU][hapmap];0.86[JPT][hapmap];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs964589	0.93[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:59 , 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	chr22:29428200-29436400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr22:29428400-29436400	Weak transcription	NHEK	skin
7	chr22:29428400-29436600	Weak transcription	K562	blood
8	chr22:29428600-29440400	Weak transcription	Esophagus	oesophagus
9	chr22:29428600-29440800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr22:29428800-29436400	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr22:29428800-29436400	Weak transcription	Left Ventricle	heart
12	chr22:29428800-29436600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr22:29428800-29436600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr22:29428800-29443600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr22:29429000-29436400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr22:29429000-29436400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr22:29429000-29436400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr22:29429000-29436400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr22:29429000-29436400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:29429000-29436400	Weak transcription	Brain Anterior Caudate	brain
21	chr22:29429000-29436400	Weak transcription	Fetal Lung	lung
22	chr22:29429000-29436400	Weak transcription	Stomach Smooth Muscle	stomach
23	chr22:29429000-29436400	Weak transcription	HSMMtube	muscle
24	chr22:29429000-29436600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr22:29429000-29436600	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr22:29429000-29436600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr22:29429000-29436600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:29429000-29436600	Weak transcription	Fetal Kidney	kidney
29	chr22:29429000-29436600	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr22:29429000-29436800	Weak transcription	Duodenum Smooth Muscle	Duodenum
31	chr22:29429000-29437000	Weak transcription	Fetal Heart	heart
32	chr22:29429000-29440600	Weak transcription	Colonic Mucosa	Colon
33	chr22:29429000-29444000	Weak transcription	Right Ventricle	heart
34	chr22:29429800-29439400	Weak transcription	Aorta	Aorta
35	chr22:29432000-29438600	Weak transcription	Fetal Muscle Trunk	muscle
36	chr22:29433200-29435400	Enhancers	Duodenum Mucosa	Duodenum
37	chr22:29433400-29435400	Enhancers	Rectal Mucosa Donor 29	rectum
38	chr22:29433600-29435600	Weak transcription	Brain Cingulate Gyrus	brain
39	chr22:29433800-29436600	Weak transcription	Colon Smooth Muscle	Colon
40	chr22:29433800-29440600	Weak transcription	Lung	lung
41	chr22:29434000-29435600	Weak transcription	Placenta	Placenta
42	chr22:29434000-29436400	Weak transcription	Liver	Liver
43	chr22:29434000-29438000	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr22:29434000-29439200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr22:29434000-29439200	Weak transcription	Pancreas	Pancrea
46	chr22:29434200-29436400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr22:29434200-29436400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr22:29434200-29436600	Weak transcription	Stomach Mucosa	stomach
49	chr22:29434600-29436400	Weak transcription	HepG2	liver
50	chr22:29434800-29435400	Enhancers	Gastric	stomach

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