Variant report

Variant	rs6715294
Chromosome Location	chr2:173335120-173335121
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 63 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:62)

rs_ID	r²[population]
rs10497383	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10497384	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1076596	0.82[YRI][hapmap]
rs11883720	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11887938	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11892037	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11896937	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11897024	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11898822	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs12469788	0.80[CEU][hapmap];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1344272	0.93[CEU][hapmap]
rs1574258	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17286988	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap]
rs17676243	1.00[JPT][hapmap];0.90[AFR][1000 genomes];0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17676773	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17677404	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17727678	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17727732	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17739735	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17739946	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2178475	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2272498	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2293649	0.93[CEU][hapmap]
rs36002642	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3762620	0.83[AMR][1000 genomes]
rs3762621	0.83[AMR][1000 genomes]
rs3792255	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3792256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3828342	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4074913	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4405727	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4619573	0.93[CEU][hapmap];1.00[YRI][hapmap]
rs4972510	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972511	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4972832	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972836	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4972837	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs55726436	0.81[AMR][1000 genomes]
rs55802347	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6433359	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433360	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717877	0.81[CEU][hapmap];0.83[AMR][1000 genomes]
rs6728123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6728419	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731691	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6746138	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6755605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72892573	0.85[AFR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72892577	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs72892596	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72892601	0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72894305	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72894375	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72894389	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72894396	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72894400	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs72896105	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7564591	0.93[CEU][hapmap]
rs7564654	0.93[CEU][hapmap]
rs7566921	0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7582972	0.93[CEU][hapmap];1.00[YRI][hapmap]
rs7609465	0.93[CEU][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv533927	chr2:173161637-173796894	Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173321400-173356000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:173326400-173340400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr2:173327200-173353200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:173327400-173338600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr2:173327400-173345000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:173327800-173370800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:173328000-173335800	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr2:173328800-173339000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr2:173328800-173353400	Weak transcription	Right Ventricle	heart
10	chr2:173329000-173335800	Weak transcription	Gastric	stomach
11	chr2:173329000-173335800	Weak transcription	Lung	lung
12	chr2:173329400-173335800	Weak transcription	Left Ventricle	heart
13	chr2:173329400-173344400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:173329800-173371200	Weak transcription	Hela-S3	cervix
15	chr2:173330200-173335800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:173330200-173342200	Weak transcription	Brain Substantia Nigra	brain
17	chr2:173330200-173345600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr2:173330200-173350400	Weak transcription	Primary B cells from cord blood	blood
19	chr2:173330400-173335800	Weak transcription	Primary hematopoietic stem cells	blood
20	chr2:173330400-173339400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:173330400-173360400	Weak transcription	Small Intestine	intestine
22	chr2:173330600-173335800	Weak transcription	K562	blood
23	chr2:173330600-173336000	Weak transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:173330600-173337400	Weak transcription	Liver	Liver
25	chr2:173330600-173339000	Weak transcription	Fetal Muscle Trunk	muscle
26	chr2:173330600-173339400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr2:173330600-173339600	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr2:173330600-173344600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr2:173330600-173344800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr2:173330600-173344800	Weak transcription	Adipose Nuclei	Adipose
31	chr2:173330600-173345000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:173330600-173345000	Weak transcription	NH-A	brain
33	chr2:173330600-173345200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr2:173330600-173345600	Weak transcription	Brain Hippocampus Middle	brain
35	chr2:173330600-173346400	Strong transcription	H1 Cell Line	embryonic stem cell
36	chr2:173330600-173351400	Weak transcription	Psoas Muscle	Psoas
37	chr2:173330600-173351400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr2:173330600-173351600	Weak transcription	Brain Anterior Caudate	brain
39	chr2:173330600-173352400	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr2:173330600-173352600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
41	chr2:173330600-173352600	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr2:173330600-173353200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr2:173330600-173353200	Weak transcription	Aorta	Aorta
44	chr2:173330600-173353400	Weak transcription	Fetal Stomach	stomach
45	chr2:173330600-173371400	Strong transcription	HUES64 Cell Line	embryonic stem cell
46	chr2:173330600-173372200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:173330600-173373200	Strong transcription	NHEK	skin
48	chr2:173330600-173373400	Strong transcription	HUES48 Cell Line	embryonic stem cell
49	chr2:173330600-173373400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr2:173330600-173373600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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