Variant report

Variant	rs7602804
Chromosome Location	chr2:160981773-160981774
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:160981270..160984730-chr2:160985198..160987380,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11890990	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2667034	1.00[AMR][1000 genomes]
rs2925764	1.00[YRI][hapmap]
rs2925765	1.00[YRI][hapmap]
rs2966388	1.00[YRI][hapmap];0.84[AFR][1000 genomes]
rs3111394	1.00[YRI][hapmap]
rs56082404	0.87[AFR][1000 genomes]
rs59101427	1.00[AMR][1000 genomes]
rs6715928	1.00[AMR][1000 genomes]
rs6724949	1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73967991	1.00[AMR][1000 genomes]
rs73968013	1.00[AMR][1000 genomes]
rs73968024	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73968047	0.94[AFR][1000 genomes]
rs925408	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv459929	chr2:160963603-161079435	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv583497	chr2:160963603-161079435	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv875346	chr2:160965335-161044155	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1001502	chr2:160967864-161079450	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:160954600-160993000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr2:160959200-161004200	Weak transcription	Gastric	stomach
3	chr2:160959400-160985200	Weak transcription	Esophagus	oesophagus
4	chr2:160959400-161032800	Weak transcription	Psoas Muscle	Psoas
5	chr2:160964200-160993600	Weak transcription	Fetal Muscle Leg	muscle
6	chr2:160964400-160993600	Weak transcription	Fetal Intestine Large	intestine
7	chr2:160969000-160983000	Weak transcription	Fetal Intestine Small	intestine
8	chr2:160969200-160982000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr2:160971000-160982200	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:160971000-160993800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr2:160971400-160982400	Weak transcription	Rectal Mucosa Donor 29	rectum
12	chr2:160971400-160982400	Weak transcription	Rectal Mucosa Donor 31	rectum
13	chr2:160977400-160988600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:160977600-160988800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
15	chr2:160977600-160989200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr2:160977600-160989600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr2:160977600-160989600	Strong transcription	HMEC	breast
18	chr2:160978200-160986000	Strong transcription	NHEK	skin
19	chr2:160980400-160987600	Weak transcription	HSMM	muscle
20	chr2:160980600-160996400	Weak transcription	HSMMtube	muscle
21	chr2:160980800-160983000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr2:160981000-160983000	Enhancers	Dnd41	blood
23	chr2:160981200-160982800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr2:160981200-160982800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr2:160981200-160983200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:160981400-160982400	Weak transcription	Lung	lung
27	chr2:160981400-160983400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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