Variant report

Variant	rs3850934
Chromosome Location	chr11:8829967-8829968
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:8708349..8711473-chr11:8829326..8831114,3	K562	blood:
2	chr11:8706888..8711251-chr11:8829326..8831400,3	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TRIM66-7	chr11:8829373-8832882	NONHSAT017885

Variant related genes	Relation type
ENSG00000212607	Chromatin interaction
ENSG00000166441	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10522860	0.85[AMR][1000 genomes]
rs10734638	0.92[CEU][hapmap]
rs10840127	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10840129	1.00[CEU][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11042070	0.83[AMR][1000 genomes]
rs11042099	0.92[CEU][hapmap];0.83[AMR][1000 genomes]
rs1133833	0.92[CEU][hapmap]
rs16906056	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs17337866	1.00[CEU][hapmap];0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2568029	0.92[CEU][hapmap]
rs2568035	0.92[CEU][hapmap]
rs2568056	0.92[CEU][hapmap]
rs2568078	1.00[ASN][1000 genomes]
rs2653558	0.92[CEU][hapmap];1.00[CHB][hapmap];0.93[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs2653574	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs2653591	0.91[EUR][1000 genomes]
rs2742502	0.92[CEU][hapmap]
rs3365	1.00[CHB][hapmap]
rs34023999	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34033747	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34105455	1.00[ASN][1000 genomes]
rs34275210	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs34417491	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34418236	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34581555	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs34769330	0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs35503692	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs35563381	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs35909878	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs36094920	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs36180552	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3915868	0.92[CEU][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4061640	1.00[CHB][hapmap]
rs4910068	0.92[CEU][hapmap]
rs4929915	0.84[AMR][1000 genomes]
rs7117900	0.92[CEU][hapmap]
rs7127197	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7936201	1.00[CHB][hapmap]
rs7950491	0.89[CEU][hapmap];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758256	chr11:8784813-9009573	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats 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	34 gene(s)	inside rSNPs	diseases
2	esv2759803	chr11:8784813-9009573	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv527920	chr11:8816695-8856822	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv527073	chr11:8829168-8848463	Flanking Active TSS Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8809000-8830200	Weak transcription	Fetal Brain Male	brain
2	chr11:8811800-8830400	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr11:8811800-8830600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr11:8816400-8831800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr11:8816600-8830000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:8816600-8830600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
7	chr11:8821600-8830200	Enhancers	Primary neutrophils fromperipheralblood	blood
8	chr11:8824200-8830400	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:8825400-8830400	Enhancers	Left Ventricle	heart
10	chr11:8826400-8830600	Enhancers	Brain Angular Gyrus	brain
11	chr11:8826600-8830200	Enhancers	Pancreas	Pancrea
12	chr11:8827400-8830400	Enhancers	Psoas Muscle	Psoas
13	chr11:8827400-8831200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:8827600-8830600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr11:8827600-8831000	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr11:8827800-8830200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:8827800-8830800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:8828000-8830000	Enhancers	Esophagus	oesophagus
19	chr11:8828000-8830800	Enhancers	Brain Germinal Matrix	brain
20	chr11:8828200-8830200	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr11:8828200-8830200	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:8828200-8830400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr11:8828200-8831000	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr11:8828400-8830000	Enhancers	Lung	lung
25	chr11:8828400-8830400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr11:8828400-8831000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr11:8828600-8830000	Enhancers	Fetal Intestine Large	intestine
28	chr11:8828600-8830000	Enhancers	Sigmoid Colon	Sigmoid Colon
29	chr11:8828600-8830600	Enhancers	Fetal Intestine Small	intestine
30	chr11:8828600-8830800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
31	chr11:8828600-8830800	Flanking Active TSS	Stomach Mucosa	stomach
32	chr11:8828600-8830800	Flanking Active TSS	HMEC	breast
33	chr11:8828600-8831000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
34	chr11:8828600-8831200	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:8828600-8831200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:8828600-8831200	Flanking Active TSS	HSMMtube	muscle
37	chr11:8828600-8831200	Flanking Active TSS	NHEK	skin
38	chr11:8828600-8831400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr11:8828600-8831400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr11:8828800-8830200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr11:8828800-8830200	Enhancers	Spleen	Spleen
42	chr11:8828800-8830600	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr11:8828800-8830800	Flanking Active TSS	Duodenum Mucosa	Duodenum
44	chr11:8828800-8831000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr11:8828800-8831600	Enhancers	Fetal Thymus	thymus
46	chr11:8828800-8831600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
47	chr11:8828800-8833200	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr11:8829000-8830000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr11:8829000-8830200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:8829000-8830800	Enhancers	Fetal Lung	lung

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