Variant report

Variant	rs7557804
Chromosome Location	chr2:160984114-160984115
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:160981983..160984926-chr2:160986223..160988366,2	K562	blood:
2	chr2:160982529..160984640-chr2:161078156..161079933,2	MCF-7	breast:
3	chr2:160978525..160981101-chr2:160983731..160985356,2	MCF-7	breast:
4	chr2:160981270..160984730-chr2:160985198..160987380,3	MCF-7	breast:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10497212	0.86[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs12478287	0.93[ASN][1000 genomes]
rs16844742	0.89[ASN][1000 genomes]
rs16844790	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs16844802	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17284082	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28867432	0.80[AFR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34347603	0.81[ASN][1000 genomes]
rs4076843	0.93[ASN][1000 genomes]
rs4078235	0.81[ASN][1000 genomes]
rs4595921	0.93[ASN][1000 genomes]
rs4664316	0.83[ASN][1000 genomes]
rs4665154	0.80[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs4665156	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58716738	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60454853	0.99[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs60915384	0.93[ASN][1000 genomes]
rs62175380	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62175383	0.87[AFR][1000 genomes];0.81[AMR][1000 genomes];0.80[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62175385	0.84[AFR][1000 genomes];0.80[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62175389	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62175390	0.80[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62177892	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs72967898	0.93[ASN][1000 genomes]
rs72969807	0.90[ASN][1000 genomes]
rs72969809	0.93[ASN][1000 genomes]
rs72975471	0.93[ASN][1000 genomes]
rs72975474	0.93[ASN][1000 genomes]
rs72977408	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72979930	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7573469	0.93[ASN][1000 genomes]
rs7581712	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][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	chr2:160971000-160993800	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr2:160977400-160988600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr2:160977600-160988800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
10	chr2:160977600-160989200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr2:160977600-160989600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr2:160977600-160989600	Strong transcription	HMEC	breast
13	chr2:160978200-160986000	Strong transcription	NHEK	skin
14	chr2:160980400-160987600	Weak transcription	HSMM	muscle
15	chr2:160980600-160996400	Weak transcription	HSMMtube	muscle
16	chr2:160982800-160993600	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr2:160983000-160988000	Weak transcription	Dnd41	blood
18	chr2:160983000-160993800	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:160983000-160993800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr2:160983200-160984400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr2:160983200-160985000	Weak transcription	Fetal Intestine Small	intestine
22	chr2:160983200-160985200	Weak transcription	Lung	lung
23	chr2:160983200-161005200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr2:160983400-160993600	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr2:160983400-160993600	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr2:160983600-160993800	Weak transcription	Pancreas	Pancrea
27	chr2:160983600-160994000	Weak transcription	Fetal Stomach	stomach

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