Variant report

Variant	rs11679949
Chromosome Location	chr2:189411455-189411456
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	chr2:189410342..189413264-chr2:189419173..189420949,2	K562	blood:

Extended variants
information (count: 138 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:134)

rs_ID	r²[population]
rs10804021	1.00[CEU][hapmap]
rs10931353	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10931357	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs10931368	0.86[EUR][1000 genomes]
rs11678035	0.86[EUR][1000 genomes]
rs11678294	0.93[EUR][1000 genomes]
rs11683340	0.93[EUR][1000 genomes]
rs11683909	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11683969	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs11685643	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11688482	0.86[EUR][1000 genomes]
rs11693105	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11694636	1.00[EUR][1000 genomes]
rs11695177	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695316	1.00[CEU][hapmap]
rs12151605	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs12475894	1.00[CEU][hapmap]
rs12476413	1.00[CEU][hapmap]
rs12997039	1.00[CEU][hapmap]
rs13025659	1.00[CEU][hapmap]
rs13386959	1.00[CEU][hapmap]
rs13392850	1.00[CEU][hapmap]
rs13393057	1.00[CEU][hapmap]
rs13393442	1.00[EUR][1000 genomes]
rs13396968	1.00[CEU][hapmap]
rs13397653	1.00[CEU][hapmap]
rs13412448	1.00[CEU][hapmap]
rs13414327	1.00[CEU][hapmap]
rs13418031	1.00[CEU][hapmap]
rs1507551	1.00[CEU][hapmap]
rs34323074	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4453658	1.00[CEU][hapmap]
rs4667231	1.00[CEU][hapmap]
rs56891673	0.90[AFR][1000 genomes]
rs57067423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57210291	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57246854	0.97[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs59668663	1.00[EUR][1000 genomes]
rs60894296	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61500341	0.80[EUR][1000 genomes]
rs6707212	1.00[CEU][hapmap]
rs6709557	1.00[CEU][hapmap]
rs6744275	1.00[CEU][hapmap]
rs6756504	1.00[CEU][hapmap]
rs72896824	1.00[EUR][1000 genomes]
rs72896833	1.00[EUR][1000 genomes]
rs72896844	1.00[EUR][1000 genomes]
rs72896851	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896856	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896869	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896876	0.86[EUR][1000 genomes]
rs72896879	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72896898	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898830	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898840	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898843	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898858	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898866	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72898876	0.86[EUR][1000 genomes]
rs72898887	0.86[EUR][1000 genomes]
rs72898898	0.86[EUR][1000 genomes]
rs72900830	0.86[EUR][1000 genomes]
rs72900842	0.86[EUR][1000 genomes]
rs72900845	0.86[EUR][1000 genomes]
rs72900848	0.86[EUR][1000 genomes]
rs72900849	0.86[EUR][1000 genomes]
rs72900870	0.86[EUR][1000 genomes]
rs72900874	0.86[EUR][1000 genomes]
rs72900893	0.86[EUR][1000 genomes]
rs72900899	0.86[EUR][1000 genomes]
rs72902608	0.86[EUR][1000 genomes]
rs72902659	0.86[EUR][1000 genomes]
rs72905601	1.00[EUR][1000 genomes]
rs72907612	1.00[EUR][1000 genomes]
rs72907614	1.00[EUR][1000 genomes]
rs72907632	1.00[EUR][1000 genomes]
rs72907664	1.00[EUR][1000 genomes]
rs72907686	1.00[EUR][1000 genomes]
rs72907691	1.00[EUR][1000 genomes]
rs72907697	1.00[EUR][1000 genomes]
rs72909505	0.82[EUR][1000 genomes]
rs72909509	1.00[EUR][1000 genomes]
rs72909519	1.00[EUR][1000 genomes]
rs72909524	1.00[EUR][1000 genomes]
rs72909525	1.00[EUR][1000 genomes]
rs72909527	1.00[EUR][1000 genomes]
rs72909531	1.00[EUR][1000 genomes]
rs72909536	0.93[EUR][1000 genomes]
rs72909549	1.00[EUR][1000 genomes]
rs72909551	1.00[EUR][1000 genomes]
rs72909552	1.00[EUR][1000 genomes]
rs72909553	1.00[EUR][1000 genomes]
rs72909559	1.00[EUR][1000 genomes]
rs72909566	1.00[EUR][1000 genomes]
rs72909568	1.00[EUR][1000 genomes]
rs72909571	1.00[EUR][1000 genomes]
rs72909573	1.00[EUR][1000 genomes]
rs72909575	1.00[EUR][1000 genomes]
rs72909576	1.00[EUR][1000 genomes]
rs72909577	1.00[EUR][1000 genomes]
rs72909579	1.00[EUR][1000 genomes]
rs72909590	1.00[EUR][1000 genomes]
rs72909594	1.00[EUR][1000 genomes]
rs72909595	1.00[EUR][1000 genomes]
rs72909598	1.00[EUR][1000 genomes]
rs72911406	1.00[EUR][1000 genomes]
rs72911432	1.00[EUR][1000 genomes]
rs72911439	1.00[EUR][1000 genomes]
rs72911445	1.00[EUR][1000 genomes]
rs72911448	1.00[EUR][1000 genomes]
rs72911463	1.00[EUR][1000 genomes]
rs72911465	1.00[EUR][1000 genomes]
rs72911476	1.00[EUR][1000 genomes]
rs72911497	1.00[EUR][1000 genomes]
rs72911499	1.00[EUR][1000 genomes]
rs72911501	1.00[EUR][1000 genomes]
rs72913327	1.00[EUR][1000 genomes]
rs72913360	1.00[EUR][1000 genomes]
rs72913365	1.00[EUR][1000 genomes]
rs73042427	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73042428	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73042430	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73042433	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs73042451	0.90[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs7419798	1.00[CEU][hapmap]
rs7420808	1.00[CEU][hapmap]
rs7421510	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes]
rs7423329	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs7423554	1.00[CEU][hapmap]
rs7579593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[EUR][1000 genomes]
rs7582643	1.00[CEU][hapmap]
rs7587596	1.00[CEU][hapmap]
rs7602180	1.00[CEU][hapmap]
rs9288154	1.00[EUR][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	nsv584055	chr2:189266823-189493686	Enhancers Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv834489	chr2:189329027-189494224	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv1003974	chr2:189331760-189827814	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv533110	chr2:189354436-189462552	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:14 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189383200-189422000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
2	chr2:189383200-189423800	Weak transcription	Placenta	Placenta
3	chr2:189384800-189442200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:189388200-189434000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr2:189395000-189415600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr2:189395000-189421800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:189395000-189422200	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr2:189395400-189421800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr2:189396000-189413000	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr2:189400200-189420000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr2:189401600-189420200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr2:189406800-189422400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr2:189406800-189425800	Weak transcription	Aorta	Aorta
14	chr2:189409600-189420000	Weak transcription	Fetal Lung	lung

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