Variant report

Variant	rs2305819
Chromosome Location	chr2:160983060-160983061
allele	C/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	chr2:160981270..160984730-chr2:160985198..160987380,3	MCF-7	breast:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10497213	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs10929965	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs12987602	0.84[ASN][1000 genomes]
rs13001911	0.88[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs16844848	0.93[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes]
rs16844863	0.93[CEU][hapmap];0.87[CHB][hapmap];0.94[JPT][hapmap];0.82[EUR][1000 genomes]
rs16844866	0.86[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap]
rs17216980	0.94[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs17218566	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs17241282	0.85[JPT][hapmap]
rs17341301	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs17830904	0.85[JPT][hapmap]
rs17831161	0.83[CHB][hapmap];0.91[JPT][hapmap]
rs17831191	0.90[JPT][hapmap]
rs17831251	0.95[JPT][hapmap]
rs2124969	1.00[CHB][hapmap];0.95[JPT][hapmap];0.98[ASN][1000 genomes]
rs2175416	0.87[CHB][hapmap];0.89[JPT][hapmap]
rs2198918	0.88[CHB][hapmap];0.90[JPT][hapmap];0.80[ASN][1000 genomes]
rs2305818	0.87[CHB][hapmap];0.94[JPT][hapmap]
rs3749117	0.85[JPT][hapmap]
rs3749119	0.81[CHB][hapmap];0.90[JPT][hapmap]
rs3792192	0.85[JPT][hapmap]
rs4233681	0.84[ASN][1000 genomes]
rs4292050	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs4363984	0.84[ASN][1000 genomes]
rs4520993	0.84[ASN][1000 genomes]
rs4520994	0.84[ASN][1000 genomes]
rs4637057	0.84[ASN][1000 genomes]
rs4664308	0.95[JPT][hapmap]
rs4664317	0.89[ASN][1000 genomes]
rs4665138	0.85[JPT][hapmap]
rs4665140	0.81[JPT][hapmap]
rs4665141	0.82[JPT][hapmap]
rs4665147	0.95[JPT][hapmap]
rs4665161	0.93[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.80[EUR][1000 genomes]
rs4665162	0.88[CHB][hapmap];0.90[JPT][hapmap]
rs55959207	0.80[ASN][1000 genomes]
rs56172865	0.81[ASN][1000 genomes]
rs57993273	0.84[EUR][1000 genomes]
rs58354887	0.80[ASN][1000 genomes]
rs60801510	0.82[EUR][1000 genomes]
rs60908067	0.90[ASN][1000 genomes]
rs62175552	0.84[ASN][1000 genomes]
rs62175559	0.84[ASN][1000 genomes]
rs62177860	0.84[ASN][1000 genomes]
rs62177891	0.90[ASN][1000 genomes]
rs6705574	0.90[JPT][hapmap]
rs6707388	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6707458	0.95[JPT][hapmap]
rs6719686	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs6722275	0.85[JPT][hapmap]
rs6722950	0.85[ASN][1000 genomes]
rs6728154	0.98[ASN][1000 genomes]
rs6731260	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs6732107	0.93[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.84[EUR][1000 genomes]
rs6739867	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[ASN][1000 genomes]
rs6744567	0.82[ASN][1000 genomes]
rs6759836	0.91[JPT][hapmap]
rs72623108	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs72623111	0.81[EUR][1000 genomes]
rs7567781	0.95[ASN][1000 genomes]
rs7593593	0.82[ASN][1000 genomes]
rs877200	0.82[CHB][hapmap];0.90[JPT][hapmap]
rs925410	0.95[JPT][hapmap]

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:28 , 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	chr2:160981200-160983200	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:160981400-160983400	Strong transcription	Skeletal Muscle Female	skeletal muscle
18	chr2:160982000-160983400	Strong transcription	Skeletal Muscle Male	skeletal muscle
19	chr2:160982200-160983200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr2:160982400-160983200	Enhancers	iPS-20b Cell Line	embryonic stem cell
21	chr2:160982400-160983200	ZNF genes & repeats	Lung	lung
22	chr2:160982400-160983200	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr2:160982800-160993600	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr2:160983000-160983200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:160983000-160983200	Strong transcription	Fetal Intestine Small	intestine
26	chr2:160983000-160988000	Weak transcription	Dnd41	blood
27	chr2:160983000-160993800	Weak transcription	Fetal Muscle Trunk	muscle
28	chr2:160983000-160993800	Weak transcription	Rectal Mucosa Donor 29	rectum

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