Variant report

Variant	rs8137499
Chromosome Location	chr22:29403050-29403051
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29392383..29394290-chr22:29401537..29403639,2	MCF-7	breast:
2	chr22:29401603..29404388-chr22:29410754..29413254,2	K562	blood:
3	chr22:29395298..29397330-chr22:29401566..29403212,2	K562	blood:

Extended variants
information (count: 47 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs12484832	0.96[CEU][hapmap]
rs132565	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17440734	1.00[CEU][hapmap];0.81[YRI][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1883197	0.81[AMR][1000 genomes]
rs1983553	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]
rs2064084	0.96[CEU][hapmap];0.96[YRI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2072774	0.95[CHB][hapmap];0.91[JPT][hapmap];0.96[YRI][hapmap];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2347789	0.82[EUR][1000 genomes]
rs2347790	0.92[CEU][hapmap]
rs28541979	0.88[ASN][1000 genomes]
rs4140643	0.92[CEU][hapmap];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4333023	0.82[EUR][1000 genomes]
rs4404379	0.81[EUR][1000 genomes]
rs4580479	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs469994	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4820794	0.93[CEU][hapmap];0.91[CHB][hapmap];0.91[JPT][hapmap];0.81[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs4823002	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs4823003	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4823005	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];0.96[YRI][hapmap];0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs5997430	0.81[EUR][1000 genomes]
rs5997432	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5997433	0.96[CEU][hapmap];0.83[EUR][1000 genomes]
rs5997435	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6005954	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6005955	0.93[CEU][hapmap];0.80[EUR][1000 genomes]
rs6005956	0.93[CEU][hapmap]
rs6005958	0.96[CEU][hapmap];0.87[EUR][1000 genomes]
rs6005964	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs6005965	1.00[CEU][hapmap];0.89[YRI][hapmap];0.83[EUR][1000 genomes]
rs6005967	0.96[CEU][hapmap]
rs713834	0.96[CEU][hapmap];0.91[CHB][hapmap];0.90[JPT][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs727892	1.00[CEU][hapmap]
rs7290304	0.96[CEU][hapmap];0.95[CHB][hapmap];0.95[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs738246	0.96[CEU][hapmap]
rs8137254	0.92[CEU][hapmap];0.82[AMR][1000 genomes]
rs874916	0.80[EUR][1000 genomes]
rs874917	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9608719	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9608721	0.80[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs9613771	0.81[EUR][1000 genomes]
rs9613776	0.93[CEU][hapmap]
rs9613777	0.92[CEU][hapmap]
rs9613784	0.88[ASN][1000 genomes]
rs9613785	0.96[CEU][hapmap]
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:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29398800-29405000	Weak transcription	HSMMtube	muscle
2	chr22:29399400-29403200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr22:29399600-29403400	Enhancers	Cortex derived primary cultured neurospheres	brain
4	chr22:29400600-29412000	Weak transcription	A549	lung
5	chr22:29400600-29425400	Weak transcription	NHEK	skin
6	chr22:29400800-29405000	Weak transcription	Aorta	Aorta
7	chr22:29401000-29403600	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr22:29401200-29403200	Enhancers	Fetal Intestine Small	intestine
9	chr22:29401200-29403400	Enhancers	Fetal Intestine Large	intestine
10	chr22:29401200-29413400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr22:29401400-29403400	Enhancers	H1 Cell Line	embryonic stem cell
12	chr22:29401400-29403400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr22:29401400-29405000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr22:29401400-29405000	Weak transcription	Ovary	ovary
15	chr22:29401400-29407200	Weak transcription	Right Atrium	heart
16	chr22:29401400-29414800	Weak transcription	Esophagus	oesophagus
17	chr22:29401400-29419200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr22:29401400-29425000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr22:29401600-29403200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr22:29401600-29403200	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr22:29401600-29403400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr22:29401600-29403800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr22:29401600-29404200	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr22:29401600-29404200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr22:29401600-29404200	Weak transcription	Psoas Muscle	Psoas
26	chr22:29401600-29404800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr22:29401600-29405000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr22:29401600-29407000	Weak transcription	Brain Germinal Matrix	brain
29	chr22:29401600-29407000	Weak transcription	Brain Hippocampus Middle	brain
30	chr22:29401600-29407200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr22:29401600-29407600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr22:29401800-29403400	Weak transcription	Left Ventricle	heart
33	chr22:29401800-29404200	Weak transcription	Brain Cingulate Gyrus	brain
34	chr22:29401800-29404200	Weak transcription	Stomach Mucosa	stomach
35	chr22:29401800-29404400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
36	chr22:29401800-29404400	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr22:29401800-29406400	Weak transcription	Brain Substantia Nigra	brain
38	chr22:29401800-29406400	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr22:29401800-29407000	Weak transcription	Fetal Lung	lung
40	chr22:29401800-29407200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr22:29401800-29407200	Weak transcription	Liver	Liver
42	chr22:29401800-29407200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr22:29401800-29407200	Weak transcription	Fetal Stomach	stomach
44	chr22:29401800-29407200	Weak transcription	Lung	lung
45	chr22:29401800-29407200	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr22:29401800-29407200	Weak transcription	Right Ventricle	heart
47	chr22:29401800-29408200	Weak transcription	Brain Angular Gyrus	brain
48	chr22:29401800-29408200	Weak transcription	Brain Anterior Caudate	brain
49	chr22:29401800-29426200	Weak transcription	Colon Smooth Muscle	Colon
50	chr22:29402000-29404200	Weak transcription	Skeletal Muscle Female	skeletal muscle

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