Variant report

Variant	rs12527893
Chromosome Location	chr6:35585099-35585100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:35584531..35587499-chr6:35594692..35597176,2	K562	blood:
2	chr6:35576934..35581038-chr6:35582610..35587021,4	K562	blood:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10498734	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11545925	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12526404	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12527303	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs12527329	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12528458	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12529688	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs12665445	1.00[AFR][1000 genomes]
rs1334894	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16877540	1.00[ASW][hapmap];0.82[CEU][hapmap];0.82[GIH][hapmap];1.00[TSI][hapmap];1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs16878812	0.84[AMR][1000 genomes]
rs1807142	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1883637	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs1977654	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1977655	0.94[EUR][1000 genomes]
rs2103680	1.00[AFR][1000 genomes]
rs2294807	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs3748050	1.00[CHB][hapmap]
rs3748051	1.00[CHB][hapmap]
rs55791123	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs55922240	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs56062505	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56313753	1.00[AFR][1000 genomes]
rs56318292	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs56353810	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6906096	1.00[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs6906359	0.83[AMR][1000 genomes]
rs72894781	1.00[AFR][1000 genomes]
rs72894784	1.00[AFR][1000 genomes]
rs72899748	0.82[EUR][1000 genomes]
rs72899772	0.85[EUR][1000 genomes]
rs72899794	1.00[AFR][1000 genomes];0.87[EUR][1000 genomes]
rs72899796	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs72911380	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs72911394	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72911397	1.00[AFR][1000 genomes];0.81[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs72913405	1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72913412	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72913417	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72913423	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72913427	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72921231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs747411	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs755658	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs7754668	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7756437	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs7765792	0.85[EUR][1000 genomes]
rs7768598	1.00[ASW][hapmap];0.82[CEU][hapmap];0.82[GIH][hapmap];0.91[MEX][hapmap];1.00[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs9688674	1.00[ASW][hapmap];0.91[MEX][hapmap];1.00[AFR][1000 genomes]
rs9689799	1.00[CHB][hapmap];1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv462913	chr6:35502202-35592744	Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv602923	chr6:35502202-35592744	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
5	nsv517211	chr6:35502202-35607571	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv602924	chr6:35505311-35750299	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
7	nsv885801	chr6:35537406-35671651	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
8	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35545000-35601800	Weak transcription	Fetal Intestine Small	intestine
2	chr6:35569400-35591600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr6:35569600-35587800	Weak transcription	Placenta	Placenta
4	chr6:35570200-35608600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:35570600-35587800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr6:35570800-35585200	Weak transcription	Fetal Muscle Leg	muscle
7	chr6:35570800-35586000	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr6:35570800-35586200	Weak transcription	Fetal Stomach	stomach
9	chr6:35570800-35586200	Weak transcription	Rectal Mucosa Donor 29	rectum
10	chr6:35570800-35611400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
11	chr6:35571000-35590600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr6:35571000-35602400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr6:35571200-35585400	Weak transcription	Colon Smooth Muscle	Colon
14	chr6:35571200-35587200	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr6:35571200-35611800	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr6:35571400-35587200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr6:35572000-35585600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr6:35572200-35586000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr6:35574000-35585400	Weak transcription	HUVEC	blood vessel
20	chr6:35574000-35588800	Weak transcription	NH-A	brain
21	chr6:35574400-35587200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr6:35574800-35607200	Weak transcription	Hela-S3	cervix
23	chr6:35575000-35611600	Strong transcription	Liver	Liver
24	chr6:35575200-35592800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr6:35575600-35610400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr6:35575800-35587200	Weak transcription	Colonic Mucosa	Colon
27	chr6:35576200-35588000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr6:35576400-35589600	Strong transcription	Thymus	Thymus
29	chr6:35576800-35586000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
30	chr6:35576800-35587600	Weak transcription	Right Ventricle	heart
31	chr6:35577000-35592800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr6:35577400-35592800	Strong transcription	HSMM	muscle
33	chr6:35577400-35593000	Strong transcription	Fetal Thymus	thymus
34	chr6:35577400-35595200	Strong transcription	Left Ventricle	heart
35	chr6:35577600-35613200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
36	chr6:35578600-35587000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr6:35578600-35588000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr6:35578600-35589600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr6:35578800-35588800	Strong transcription	K562	blood
40	chr6:35578800-35592000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr6:35578800-35592800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr6:35579200-35585600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr6:35579200-35588000	Strong transcription	Skeletal Muscle Female	skeletal muscle
44	chr6:35579200-35597200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr6:35579400-35585400	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr6:35579400-35585600	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr6:35579400-35586200	Weak transcription	Fetal Heart	heart
48	chr6:35579400-35601400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr6:35579400-35603000	Weak transcription	HSMMtube	muscle
50	chr6:35579400-35603600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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