Variant report

Variant	rs11678729
Chromosome Location	chr2:189149598-189149599
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:189149428..189152220-chr2:189152481..189154778,2	K562	blood:
2	chr2:189147369..189150178-chr2:189166484..189168469,2	K562	blood:
3	chr2:189143598..189145777-chr2:189149493..189151488,2	K562	blood:
4	chr2:189148121..189153367-chr2:189154784..189162424,9	K562	blood:
5	chr2:189136881..189139630-chr2:189148262..189150658,2	K562	blood:

Variant related genes	Relation type
ENSG00000207951	Chromatin interaction
ENSG00000144366	Chromatin interaction

Extended variants
information (count: 145 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:142)

rs_ID	r²[population]
rs10931353	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931357	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11674292	0.80[EUR][1000 genomes]
rs11678294	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679720	0.80[EUR][1000 genomes]
rs11680235	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683340	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11683909	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11683969	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11685495	0.80[EUR][1000 genomes]
rs11686476	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11687577	0.80[EUR][1000 genomes]
rs11689113	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11691788	0.80[EUR][1000 genomes]
rs11692575	0.80[EUR][1000 genomes]
rs11693105	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs11694636	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11695469	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12151605	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs12151778	0.80[EUR][1000 genomes]
rs12185535	0.80[EUR][1000 genomes]
rs12185546	0.80[EUR][1000 genomes]
rs12185596	0.80[EUR][1000 genomes]
rs12185714	0.80[EUR][1000 genomes]
rs12989776	0.80[EUR][1000 genomes]
rs13386959	1.00[CEU][hapmap]
rs13392850	1.00[CEU][hapmap]
rs13393442	1.00[CEU][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13397653	1.00[CEU][hapmap]
rs13414327	1.00[CEU][hapmap]
rs13418031	1.00[CEU][hapmap]
rs4453658	1.00[CEU][hapmap]
rs59668663	0.93[EUR][1000 genomes]
rs6709557	1.00[CEU][hapmap]
rs6721812	0.95[YRI][hapmap];0.83[AFR][1000 genomes]
rs6739581	0.91[AFR][1000 genomes]
rs6744275	1.00[CEU][hapmap]
rs72895717	0.80[EUR][1000 genomes]
rs72895720	0.80[EUR][1000 genomes]
rs72895723	0.80[EUR][1000 genomes]
rs72895727	0.80[EUR][1000 genomes]
rs72895728	0.80[EUR][1000 genomes]
rs72895740	0.80[EUR][1000 genomes]
rs72895757	0.80[EUR][1000 genomes]
rs72897930	0.80[EUR][1000 genomes]
rs72897939	0.80[EUR][1000 genomes]
rs72901578	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901590	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72901594	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903509	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903511	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903524	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903526	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903527	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903532	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903537	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903560	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903582	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903583	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72903592	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905529	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905551	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905569	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905578	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905586	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905596	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905601	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907612	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907614	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907632	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907664	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907686	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907691	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907697	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72907958	0.80[EUR][1000 genomes]
rs72907969	0.80[EUR][1000 genomes]
rs72907970	0.80[EUR][1000 genomes]
rs72907987	0.80[EUR][1000 genomes]
rs72909505	1.00[ASN][1000 genomes]
rs72909509	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909519	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909524	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909525	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909527	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909531	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909536	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909545	1.00[ASN][1000 genomes]
rs72909549	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909551	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909552	0.93[EUR][1000 genomes]
rs72909553	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909559	0.93[EUR][1000 genomes]
rs72909566	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909568	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72909571	0.93[EUR][1000 genomes]
rs72909573	0.93[EUR][1000 genomes]
rs72909575	0.93[EUR][1000 genomes]
rs72909576	0.93[EUR][1000 genomes]
rs72909577	0.93[EUR][1000 genomes]
rs72909579	0.93[EUR][1000 genomes]
rs72909590	0.93[EUR][1000 genomes]
rs72909594	0.93[EUR][1000 genomes]
rs72909595	0.93[EUR][1000 genomes]
rs72909598	0.93[EUR][1000 genomes]
rs72909876	0.80[EUR][1000 genomes]
rs72909889	0.80[EUR][1000 genomes]
rs72909891	0.80[EUR][1000 genomes]
rs72909893	0.80[EUR][1000 genomes]
rs72909895	0.80[EUR][1000 genomes]
rs72911406	0.93[EUR][1000 genomes]
rs72911432	0.93[EUR][1000 genomes]
rs72911439	0.93[EUR][1000 genomes]
rs72911445	0.93[EUR][1000 genomes]
rs72911448	0.93[EUR][1000 genomes]
rs72911463	0.93[EUR][1000 genomes]
rs72911465	0.93[EUR][1000 genomes]
rs72911476	0.93[EUR][1000 genomes]
rs72911497	0.93[EUR][1000 genomes]
rs72911499	0.93[EUR][1000 genomes]
rs72911501	0.93[EUR][1000 genomes]
rs72911709	0.80[EUR][1000 genomes]
rs72911710	0.80[EUR][1000 genomes]
rs72911713	0.80[EUR][1000 genomes]
rs72911720	0.80[EUR][1000 genomes]
rs72911722	0.80[EUR][1000 genomes]
rs72911724	0.80[EUR][1000 genomes]
rs72911729	0.80[EUR][1000 genomes]
rs72911733	0.80[EUR][1000 genomes]
rs72911739	0.80[EUR][1000 genomes]
rs72911740	0.80[EUR][1000 genomes]
rs72911751	0.80[EUR][1000 genomes]
rs72911762	0.80[EUR][1000 genomes]
rs72911775	0.80[EUR][1000 genomes]
rs72911777	0.80[EUR][1000 genomes]
rs72911779	0.80[EUR][1000 genomes]
rs72911782	0.80[EUR][1000 genomes]
rs72911793	0.80[EUR][1000 genomes]
rs72913327	0.93[EUR][1000 genomes]
rs72913360	0.93[EUR][1000 genomes]
rs72913365	0.93[EUR][1000 genomes]
rs7562160	1.00[CEU][hapmap]
rs9288154	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
3	esv1811040	chr2:189119837-189150420	Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:10 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189144000-189155400	Weak transcription	Aorta	Aorta
2	chr2:189144200-189156000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr2:189145000-189154600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:189145000-189155400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
5	chr2:189146000-189150400	Weak transcription	Stomach Mucosa	stomach
6	chr2:189148400-189152800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr2:189148800-189149600	Enhancers	HUES64 Cell Line	embryonic stem cell
8	chr2:189149000-189149600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:189149200-189149800	Active TSS	K562	blood
10	chr2:189149400-189151200	Weak transcription	HUES48 Cell Line	embryonic stem cell

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