Variant report

Variant	rs286938
Chromosome Location	chr11:34628152-34628153
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:34620874..34623895-chr11:34625978..34628773,4	K562	blood:
2	chr11:34626946..34629692-chr11:34630243..34633645,4	MCF-7	breast:
3	chr11:34624747..34628551-chr11:34657820..34660941,3	K562	blood:
4	chr11:34626866..34628480-chr11:34633656..34636586,2	K562	blood:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10836262	0.81[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10836263	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10836264	0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11032780	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16925853	0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16925865	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16925867	0.87[CEU][hapmap]
rs286930	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.95[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs286932	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.82[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs286933	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs286934	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs286936	0.81[AFR][1000 genomes];0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs286937	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286940	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs286941	0.80[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs286943	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs286944	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs286947	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs286948	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35933659	0.84[ASN][1000 genomes]
rs402709	0.82[ASN][1000 genomes]
rs57308521	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7109197	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7952644	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.90[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832116	chr11:34539536-34673900	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv526845	chr11:34625239-34632772	Enhancers Flanking Active TSS Weak transcription	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:34608400-34643600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:34620600-34628400	Enhancers	Fetal Intestine Small	intestine
3	chr11:34620600-34628600	Enhancers	Fetal Intestine Large	intestine
4	chr11:34623400-34628600	Enhancers	A549	lung
5	chr11:34623400-34628600	Enhancers	HepG2	liver
6	chr11:34623400-34631200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr11:34624200-34633800	Weak transcription	Lung	lung
8	chr11:34624600-34628400	Enhancers	Hela-S3	cervix
9	chr11:34624800-34628200	Enhancers	Duodenum Mucosa	Duodenum
10	chr11:34624800-34630800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr11:34625200-34628200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr11:34625400-34628400	Enhancers	K562	blood
13	chr11:34625400-34642800	Weak transcription	Gastric	stomach
14	chr11:34625600-34628400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr11:34626600-34628400	Enhancers	Small Intestine	intestine
16	chr11:34627000-34628200	Enhancers	NHEK	skin
17	chr11:34627200-34628400	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr11:34627200-34628400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr11:34627200-34628400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr11:34627400-34628400	Enhancers	GM12878-XiMat	blood
21	chr11:34627400-34628600	Enhancers	Stomach Mucosa	stomach
22	chr11:34627400-34631600	Weak transcription	HSMMtube	muscle
23	chr11:34627600-34628200	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr11:34627600-34628400	Enhancers	Esophagus	oesophagus
25	chr11:34627800-34628200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr11:34627800-34628400	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr11:34627800-34628400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr11:34627800-34628400	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr11:34627800-34631400	Weak transcription	Pancreas	Pancrea
30	chr11:34628000-34628200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
31	chr11:34628000-34628200	Enhancers	Rectal Mucosa Donor 29	rectum

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