Variant report

Variant	rs2336595
Chromosome Location	chr1:197000476-197000477
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	chr1:196999101..197001739-chr1:197120157..197122368,2	K562	blood:

Extended variants
information (count: 126 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:117)

rs_ID	r²[population]
rs1034162	0.96[EUR][1000 genomes]
rs10429911	0.87[CEU][hapmap]
rs10732295	0.87[CEU][hapmap]
rs10732296	0.87[CEU][hapmap]
rs10733087	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10737687	0.88[EUR][1000 genomes]
rs10754213	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10754214	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10754215	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10754219	0.87[CEU][hapmap]
rs10801587	0.96[EUR][1000 genomes]
rs10801588	0.96[EUR][1000 genomes]
rs10801590	0.96[EUR][1000 genomes]
rs10801591	0.96[EUR][1000 genomes]
rs10922165	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs10922166	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs10922169	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1102176	0.89[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1115246	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1115247	1.00[CEU][hapmap];0.86[YRI][hapmap];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1170878	0.89[EUR][1000 genomes]
rs1170880	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1170881	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1170882	0.89[EUR][1000 genomes]
rs1170883	0.89[EUR][1000 genomes]
rs12039586	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12092294	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs12677	1.00[CEU][hapmap];0.89[YRI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs12731209	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1332662	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs1332663	1.00[CEU][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs1332669	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1412631	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1412632	1.00[CEU][hapmap];0.88[YRI][hapmap];0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1412633	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1412634	1.00[CEU][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1412638	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1412639	1.00[EUR][1000 genomes]
rs1415217	0.87[CEU][hapmap]
rs1537319	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1556763	0.87[CEU][hapmap]
rs1571964	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs1576878	1.00[EUR][1000 genomes]
rs1627765	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1759006	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1759007	0.96[EUR][1000 genomes]
rs1759008	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1759009	0.96[EUR][1000 genomes]
rs1759013	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1794003	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1794010	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1855116	0.89[EUR][1000 genomes]
rs1888991	0.87[CEU][hapmap];0.85[YRI][hapmap];0.89[EUR][1000 genomes]
rs1953064	0.96[EUR][1000 genomes]
rs2026429	1.00[CEU][hapmap];0.88[YRI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2151133	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2151134	1.00[CEU][hapmap];0.88[EUR][1000 genomes]
rs2151135	0.89[EUR][1000 genomes]
rs2336597	1.00[EUR][1000 genomes]
rs3891964	0.96[EUR][1000 genomes]
rs4342879	0.87[CEU][hapmap]
rs4350226	0.87[CEU][hapmap]
rs4556392	0.89[EUR][1000 genomes]
rs4915148	0.81[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4915156	0.96[EUR][1000 genomes]
rs4915313	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4915315	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4915316	0.84[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4915327	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4915337	1.00[CEU][hapmap];0.89[YRI][hapmap];0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4915345	0.89[EUR][1000 genomes]
rs4915379	0.87[CEU][hapmap]
rs510135	0.87[CEU][hapmap]
rs518149	0.87[CEU][hapmap]
rs5997	0.83[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6003	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs615647	0.87[CEU][hapmap]
rs6428387	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6656448	0.85[CEU][hapmap];0.81[YRI][hapmap]
rs6656858	1.00[CEU][hapmap];0.88[YRI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs6657171	0.89[EUR][1000 genomes]
rs6657246	0.89[EUR][1000 genomes]
rs6671696	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6677082	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs6679189	0.89[EUR][1000 genomes]
rs6680497	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6685259	0.96[EUR][1000 genomes]
rs6694672	0.89[EUR][1000 genomes]
rs6694853	0.89[EUR][1000 genomes]
rs6695300	0.89[EUR][1000 genomes]
rs6702340	0.89[EUR][1000 genomes]
rs6703400	1.00[CEU][hapmap];0.96[EUR][1000 genomes]
rs7411719	0.96[EUR][1000 genomes]
rs7513826	0.87[CEU][hapmap]
rs7516700	0.80[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7520503	0.87[CEU][hapmap]
rs7523013	0.87[CEU][hapmap]
rs7534353	1.00[CEU][hapmap];0.86[YRI][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7539642	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7541429	0.88[EUR][1000 genomes]
rs7542397	1.00[CEU][hapmap];0.92[YRI][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs7554757	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs857017	0.80[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs857020	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs857021	0.88[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs857022	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs857023	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs857026	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs857027	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs865071	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs877897	1.00[CEU][hapmap];0.89[YRI][hapmap];0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs928439	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs928440	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9427660	1.00[CEU][hapmap]
rs9427661	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9427662	1.00[CEU][hapmap];0.89[EUR][1000 genomes]
rs9427942	1.00[CEU][hapmap];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv528460	chr1:196542567-197446702	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2758990	chr1:196590837-197169772	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv427897	chr1:196590837-197169772	Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
4	esv2756880	chr1:196709223-197066074	ZNF genes & repeats Active TSS Strong transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	esv34978	chr1:196733133-197011577	Active TSS Enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv430158	chr1:196733133-197011577	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv430180	chr1:196739837-197007479	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
8	nsv1003573	chr1:196825211-197005106	Bivalent Enhancer Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
9	esv2757767	chr1:196977799-197169772	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:6 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:196999600-197003800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr1:196999600-197003800	Weak transcription	HUVEC	blood vessel
3	chr1:196999800-197003600	Weak transcription	Osteobl	bone
4	chr1:197000000-197003600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr1:197000200-197003000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr1:197000200-197003400	Weak transcription	NHDF-Ad	bronchial

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