Variant report

Variant	rs7596665
Chromosome Location	chr2:173363917-173363918
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:173356812..173359740-chr2:173361584..173364656,4	K562	blood:
2	chr2:173359691..173364040-chr2:173364971..173367986,4	K562	blood:
3	chr2:173329552..173331919-chr2:173362275..173365148,2	MCF-7	breast:
4	chr2:173252328..173254724-chr2:173362750..173364595,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000232788	Chromatin interaction

Extended variants
information (count: 65 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10174809	0.81[YRI][hapmap]
rs10178654	0.90[CEU][hapmap]
rs10180021	1.00[CEU][hapmap]
rs10199472	0.90[CEU][hapmap]
rs10201129	0.90[CEU][hapmap]
rs10202550	0.90[CEU][hapmap]
rs10208151	0.90[CEU][hapmap]
rs10210546	0.90[CEU][hapmap]
rs10451559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10930557	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11886058	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11887454	0.90[CEU][hapmap]
rs11890159	0.90[CEU][hapmap]
rs11892462	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11895820	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11904366	0.81[CEU][hapmap]
rs12052479	0.81[YRI][hapmap]
rs12693005	0.90[CEU][hapmap]
rs13007707	1.00[CEU][hapmap]
rs13012115	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.91[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13021042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13027362	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13027432	0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13033614	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs13385403	0.90[CEU][hapmap]
rs13392808	0.90[CEU][hapmap]
rs13394924	0.90[CEU][hapmap]
rs13398175	0.81[YRI][hapmap]
rs13398305	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13412041	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13417334	0.90[CEU][hapmap]
rs1574257	0.81[YRI][hapmap]
rs16860696	0.90[CEU][hapmap]
rs16860697	0.90[CEU][hapmap]
rs17299956	0.90[CEU][hapmap]
rs17702263	0.90[CEU][hapmap]
rs17740327	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1869922	0.90[CEU][hapmap]
rs2701268	0.92[MEX][hapmap]
rs2701269	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2701270	0.87[GIH][hapmap];1.00[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2737084	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28463972	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28480655	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2884226	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34277286	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34401899	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34532264	0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34926868	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34938988	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34970908	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35981026	0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3792259	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56347526	0.88[EUR][1000 genomes]
rs59424951	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61486827	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62167823	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62167824	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6433365	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723872	0.90[CEU][hapmap]
rs6739419	0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6746243	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6752257	0.90[CEU][hapmap]
rs7580589	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]

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:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:173327800-173370800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:173329800-173371200	Weak transcription	Hela-S3	cervix
3	chr2:173330600-173371400	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chr2:173330600-173372200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr2:173330600-173373200	Strong transcription	NHEK	skin
6	chr2:173330600-173373400	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr2:173330600-173373400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr2:173330600-173373600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr2:173330600-173374200	Weak transcription	Stomach Mucosa	stomach
10	chr2:173331000-173370000	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr2:173331000-173373200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr2:173331000-173373400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr2:173331000-173373800	Strong transcription	HMEC	breast
14	chr2:173331200-173372000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr2:173331400-173370200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr2:173346000-173370200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:173346000-173370200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr2:173346000-173370600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr2:173346400-173371400	Weak transcription	NHLF	lung
20	chr2:173347000-173367200	Strong transcription	Cortex derived primary cultured neurospheres	brain
21	chr2:173347400-173368600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr2:173347800-173371600	Weak transcription	Fetal Brain Male	brain
23	chr2:173347800-173376200	Weak transcription	Fetal Heart	heart
24	chr2:173349400-173365200	Strong transcription	H1 Cell Line	embryonic stem cell
25	chr2:173349400-173370400	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr2:173351200-173367800	Strong transcription	HSMMtube	muscle
27	chr2:173352000-173371400	Weak transcription	Fetal Brain Female	brain
28	chr2:173352000-173374200	Weak transcription	Fetal Lung	lung
29	chr2:173352400-173371400	Weak transcription	Psoas Muscle	Psoas
30	chr2:173353200-173368400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr2:173354000-173370400	Weak transcription	Brain Angular Gyrus	brain
32	chr2:173354200-173369000	Weak transcription	Rectal Smooth Muscle	rectum
33	chr2:173356400-173379200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr2:173356600-173371400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr2:173356600-173375400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr2:173356800-173364400	Enhancers	Primary T killer memory cells from peripheral blood	blood
37	chr2:173356800-173369200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr2:173356800-173369200	Weak transcription	Brain Anterior Caudate	brain
39	chr2:173356800-173374600	Weak transcription	Fetal Kidney	kidney
40	chr2:173356800-173376000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr2:173356800-173376200	Weak transcription	Brain Substantia Nigra	brain
42	chr2:173357000-173368800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:173357000-173371000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:173357000-173371200	Weak transcription	Ovary	ovary
45	chr2:173357000-173373000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr2:173357000-173376000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr2:173357000-173376000	Weak transcription	Aorta	Aorta
48	chr2:173357200-173369200	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr2:173357200-173376600	Weak transcription	Right Ventricle	heart
50	chr2:173357600-173366600	Weak transcription	Skeletal Muscle Male	skeletal muscle

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