Variant report

Variant	rs3781815
Chromosome Location	chr11:85341933-85341934
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:85341808-85347138	K562	blood:	n/a	n/a
2	POLR2A	chr11:85341869-85341956	GM12878	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:85338390..85343522-chr11:85356567..85360273,9	MCF-7	breast:
2	chr11:85337127..85343160-chr11:85357064..85364111,20	MCF-7	breast:
3	chr11:85336278..85337921-chr11:85339997..85342218,2	K562	blood:
4	chr11:85338448..85341428-chr11:85341635..85345744,6	MCF-7	breast:
5	chr11:85339009..85341101-chr11:85341259..85343542,2	K562	blood:
6	chr11:85337740..85341959-chr11:85373645..85377756,6	MCF-7	breast:

No data

Variant related genes	Relation type
DLG2	TF binding region
ENSG00000171204	Chromatin interaction
ENSG00000150672	Chromatin interaction
ENSG00000137504	Chromatin interaction
ENSG00000171202	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:67)

rs_ID	r²[population]
rs1046216	0.85[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11600919	0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs11603256	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11606688	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11821005	0.85[ASN][1000 genomes]
rs1237203	1.00[CHB][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs17148254	0.87[AFR][1000 genomes]
rs17148293	0.82[AFR][1000 genomes]
rs2117312	0.87[ASN][1000 genomes]
rs2196168	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2290823	0.81[AFR][1000 genomes]
rs2840343	0.80[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs290173	0.85[CHB][hapmap];0.84[JPT][hapmap]
rs290179	0.81[CHB][hapmap]
rs290180	0.85[CHB][hapmap];0.86[ASN][1000 genomes]
rs290181	0.87[ASN][1000 genomes]
rs290183	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.86[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs290184	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs290185	1.00[CHB][hapmap];0.89[JPT][hapmap];0.87[ASN][1000 genomes]
rs290190	0.90[CHB][hapmap];0.95[JPT][hapmap]
rs290195	0.90[CHB][hapmap];0.89[JPT][hapmap]
rs290200	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs290202	0.90[CHB][hapmap];0.94[JPT][hapmap]
rs35844123	0.81[AFR][1000 genomes]
rs370385	1.00[CHB][hapmap];0.95[JPT][hapmap];0.88[ASN][1000 genomes]
rs3753050	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs3817087	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3824956	0.92[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs3862782	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4015271	0.82[AFR][1000 genomes]
rs4301809	0.83[ASN][1000 genomes]
rs431606	0.85[CHB][hapmap];0.84[ASN][1000 genomes]
rs491867	0.85[CHB][hapmap];0.94[JPT][hapmap]
rs4944526	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4944530	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs496187	0.94[JPT][hapmap]
rs497698	0.80[AFR][1000 genomes]
rs522604	0.91[ASN][1000 genomes]
rs540063	0.89[JPT][hapmap]
rs550404	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs552013	0.85[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs556669	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs57296431	0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs575050	0.81[CHB][hapmap]
rs57549298	0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs580459	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs589327	0.83[CHB][hapmap];0.90[JPT][hapmap]
rs592460	1.00[CHB][hapmap];0.95[JPT][hapmap];0.84[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs597480	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs61114547	0.86[ASN][1000 genomes]
rs61567739	0.80[ASN][1000 genomes]
rs631375	0.86[AFR][1000 genomes]
rs631410	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs641393	0.81[CHB][hapmap];0.94[JPT][hapmap]
rs647912	0.94[JPT][hapmap]
rs679204	0.81[CHB][hapmap];0.95[JPT][hapmap]
rs680498	0.94[JPT][hapmap]
rs7107788	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7113528	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7115250	0.80[AFR][1000 genomes]
rs7116195	0.85[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs7122887	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7925739	0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7940714	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7943586	0.83[YRI][hapmap];0.87[AFR][1000 genomes]
rs881120	1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[YRI][hapmap];0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs956202	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85340200-85348400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr11:85340200-85351800	Weak transcription	Gastric	stomach
3	chr11:85340200-85352400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr11:85340400-85342000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr11:85340400-85342000	Weak transcription	Placenta	Placenta
6	chr11:85340400-85345400	Weak transcription	Lung	lung
7	chr11:85340400-85349400	Weak transcription	Pancreas	Pancrea
8	chr11:85340400-85351000	Weak transcription	Esophagus	oesophagus
9	chr11:85340600-85342000	Weak transcription	Primary T cells fromperipheralblood	blood
10	chr11:85340600-85342000	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr11:85340600-85342200	Enhancers	Brain Inferior Temporal Lobe	brain
12	chr11:85340600-85345000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr11:85340600-85345200	Weak transcription	Primary neutrophils fromperipheralblood	blood
14	chr11:85340600-85345200	Weak transcription	Brain Substantia Nigra	brain
15	chr11:85340600-85345400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr11:85340600-85345400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:85340600-85345400	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:85340600-85345400	Weak transcription	Fetal Muscle Leg	muscle
19	chr11:85340600-85345400	Weak transcription	Left Ventricle	heart
20	chr11:85340600-85345600	Weak transcription	Ovary	ovary
21	chr11:85340600-85345800	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr11:85340600-85347600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr11:85340600-85350000	Weak transcription	Stomach Mucosa	stomach
24	chr11:85340600-85352800	Weak transcription	Fetal Brain Male	brain
25	chr11:85340600-85358200	Weak transcription	Aorta	Aorta
26	chr11:85340800-85342000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr11:85340800-85342000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
28	chr11:85340800-85342400	Enhancers	Psoas Muscle	Psoas
29	chr11:85340800-85344800	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:85340800-85345000	Weak transcription	Primary B cells from peripheral blood	blood
31	chr11:85340800-85345200	Weak transcription	Fetal Lung	lung
32	chr11:85340800-85345400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr11:85340800-85350000	Weak transcription	Placenta Amnion	Placenta Amnion
34	chr11:85340800-85358200	Weak transcription	Fetal Stomach	stomach
35	chr11:85340800-85358200	Weak transcription	Right Ventricle	heart
36	chr11:85340800-85358200	Weak transcription	HSMMtube	muscle
37	chr11:85341000-85342000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:85341000-85342000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr11:85341000-85342000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr11:85341000-85342000	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr11:85341000-85342400	Genic enhancers	Sigmoid Colon	Sigmoid Colon
42	chr11:85341000-85345000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:85341000-85345000	Weak transcription	Primary B cells from cord blood	blood
44	chr11:85341000-85351600	Weak transcription	Thymus	Thymus
45	chr11:85341200-85342000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:85341200-85342000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:85341200-85342000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr11:85341200-85342000	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr11:85341200-85342000	Weak transcription	A549	lung
50	chr11:85341200-85342200	Weak transcription	H1 Cell Line	embryonic stem cell

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