Variant report

Variant	rs578269
Chromosome Location	chr11:59893825-59893826
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	chr11:59886056..59888504-chr11:59892263..59894071,2	K562	blood:

Extended variants
information (count: 82 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs1286182	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1294440	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1303617	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1303618	0.82[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1303619	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1303620	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1303622	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1315507	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441585	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2243987	0.96[EUR][1000 genomes]
rs2433240	0.92[EUR][1000 genomes]
rs2847662	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs474888	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs475494	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs475812	1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs476722	0.80[YRI][hapmap]
rs477352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs485682	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.82[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs489297	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs500886	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs500888	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs512548	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][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]
rs512555	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs519743	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs523806	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524755	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs524995	0.82[JPT][hapmap];0.96[EUR][1000 genomes]
rs528421	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs535413	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs541468	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs542665	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs546840	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs548515	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs549633	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs562442	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.84[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs562637	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs569108	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs571582	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[YRI][hapmap];0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs572084	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs573305	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs574060	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs574700	1.00[CEU][hapmap];1.00[CHB][hapmap];0.82[JPT][hapmap];0.86[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs574704	0.80[YRI][hapmap]
rs575103	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs575930	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576295	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576483	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.85[YRI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs576616	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs581133	0.82[YRI][hapmap]
rs585540	0.83[JPT][hapmap]
rs587634	0.83[JPT][hapmap];0.96[EUR][1000 genomes]
rs588448	0.83[JPT][hapmap];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs590532	0.96[EUR][1000 genomes]
rs592496	0.96[EUR][1000 genomes]
rs596788	0.96[EUR][1000 genomes]
rs597982	0.96[EUR][1000 genomes]
rs598862	0.82[JPT][hapmap];0.96[EUR][1000 genomes]
rs600194	0.96[EUR][1000 genomes]
rs605820	0.96[EUR][1000 genomes]
rs60849043	1.00[ASN][1000 genomes]
rs620368	0.83[JPT][hapmap];0.96[EUR][1000 genomes]
rs624233	0.96[EUR][1000 genomes]
rs625025	0.96[EUR][1000 genomes]
rs638872	0.96[EUR][1000 genomes]
rs641051	0.88[EUR][1000 genomes]
rs641829	0.83[JPT][hapmap]
rs642426	0.96[EUR][1000 genomes]
rs646924	0.82[JPT][hapmap];0.96[EUR][1000 genomes]
rs653285	0.96[EUR][1000 genomes]
rs654443	0.85[EUR][1000 genomes]
rs661376	0.91[JPT][hapmap]
rs662674	0.83[JPT][hapmap]
rs668095	0.82[JPT][hapmap]
rs668134	0.82[JPT][hapmap]
rs670925	0.96[EUR][1000 genomes]
rs675316	0.96[EUR][1000 genomes]
rs682025	0.96[EUR][1000 genomes]
rs682739	0.96[EUR][1000 genomes]
rs684977	0.96[EUR][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	nsv832173	chr11:59788884-59940560	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv468579	chr11:59814287-59975400	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
3	nsv555150	chr11:59814287-59975400	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:59879400-59897600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
2	chr11:59889800-59894000	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr11:59891000-59894000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr11:59891800-59894000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr11:59892000-59894000	Enhancers	Primary B cells from peripheral blood	blood
6	chr11:59892000-59894000	Enhancers	HUVEC	blood vessel
7	chr11:59892400-59897800	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr11:59892600-59895600	Enhancers	HMEC	breast
9	chr11:59892600-59899200	Weak transcription	Fetal Intestine Large	intestine
10	chr11:59892800-59894200	Enhancers	HepG2	liver
11	chr11:59892800-59895400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr11:59892800-59896400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr11:59893000-59894600	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr11:59893000-59894600	Weak transcription	Ovary	ovary
15	chr11:59893000-59894600	Weak transcription	Small Intestine	intestine
16	chr11:59893000-59894600	Weak transcription	K562	blood
17	chr11:59893200-59894000	Enhancers	Stomach Mucosa	stomach
18	chr11:59893200-59895800	Enhancers	Fetal Intestine Small	intestine
19	chr11:59893200-59897800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
20	chr11:59893600-59894600	Weak transcription	Hela-S3	cervix
21	chr11:59893600-59894800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:59893800-59894200	Weak transcription	NHEK	skin
23	chr11:59893800-59899400	Weak transcription	Rectal Mucosa Donor 31	rectum

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