Variant report

Variant	rs10840119
Chromosome Location	chr11:8794191-8794192
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	chr11:8714620..8716803-chr11:8793970..8795486,2	K562	blood:
2	chr11:8792754..8796675-chr11:8797137..8799307,3	K562	blood:

Variant related genes	Relation type
ENSG00000166444	Chromatin interaction
ENSG00000254665	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10743086	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10743090	0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10769961	0.83[CEU][hapmap]
rs10840120	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10840122	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10840124	0.90[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11042052	0.90[CEU][hapmap];0.83[EUR][1000 genomes]
rs11042064	1.00[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11042074	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12269980	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12287694	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12289240	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12291552	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12420964	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs16906037	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2316863	0.82[CEU][hapmap]
rs3763917	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3763919	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3913547	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4082668	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4370937	0.87[CEU][hapmap]
rs4929918	0.82[CEU][hapmap]
rs55902154	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs60869409	0.88[EUR][1000 genomes]
rs61875931	0.84[EUR][1000 genomes]
rs6484007	0.94[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6484606	0.88[CEU][hapmap]
rs7105372	0.93[CEU][hapmap];0.89[CHB][hapmap];0.91[JPT][hapmap];0.84[EUR][1000 genomes]
rs7131166	0.87[CEU][hapmap]
rs72858278	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][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	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	nsv553447	chr11:8792622-8825966	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10840119	TMEM9B	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8777400-8795800	Enhancers	Rectal Smooth Muscle	rectum
2	chr11:8779600-8799600	Weak transcription	Fetal Brain Male	brain
3	chr11:8781400-8794600	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr11:8784000-8794200	Weak transcription	Colonic Mucosa	Colon
5	chr11:8785200-8799400	Enhancers	Fetal Heart	heart
6	chr11:8786400-8794200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr11:8786600-8795400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr11:8786600-8795400	Enhancers	Stomach Mucosa	stomach
9	chr11:8786600-8798000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr11:8786600-8803000	Enhancers	Ovary	ovary
11	chr11:8787000-8797800	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr11:8787600-8795000	Weak transcription	Fetal Intestine Large	intestine
13	chr11:8788200-8794200	Weak transcription	Gastric	stomach
14	chr11:8788200-8797000	Weak transcription	Brain Hippocampus Middle	brain
15	chr11:8788600-8799600	Weak transcription	Brain Inferior Temporal Lobe	brain
16	chr11:8788800-8794200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr11:8788800-8794200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr11:8788800-8794200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:8788800-8801400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr11:8788800-8808400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr11:8789000-8795400	Enhancers	HMEC	breast
22	chr11:8789000-8801200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr11:8789400-8794800	Weak transcription	Brain Anterior Caudate	brain
24	chr11:8789400-8797000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr11:8789400-8797400	Weak transcription	Brain Substantia Nigra	brain
26	chr11:8789400-8807600	Weak transcription	Fetal Kidney	kidney
27	chr11:8789600-8799400	Weak transcription	Brain Cingulate Gyrus	brain
28	chr11:8789600-8805800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr11:8790400-8794200	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr11:8790400-8795600	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr11:8790400-8795800	Weak transcription	Small Intestine	intestine
32	chr11:8790600-8794400	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr11:8790600-8796000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr11:8790800-8794200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr11:8790800-8794200	Weak transcription	Lung	lung
36	chr11:8790800-8795000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr11:8790800-8797000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr11:8791000-8794400	Weak transcription	Fetal Lung	lung
39	chr11:8791200-8794200	Weak transcription	Placenta Amnion	Placenta Amnion
40	chr11:8791400-8794200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:8791400-8794200	Weak transcription	Esophagus	oesophagus
42	chr11:8791400-8794200	Weak transcription	Pancreas	Pancrea
43	chr11:8791400-8794800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr11:8791400-8795600	Weak transcription	Fetal Thymus	thymus
45	chr11:8791400-8797000	Weak transcription	Psoas Muscle	Psoas
46	chr11:8791400-8810400	Weak transcription	Hela-S3	cervix
47	chr11:8791600-8794200	Weak transcription	Fetal Muscle Trunk	muscle
48	chr11:8791600-8796200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr11:8792200-8795400	Enhancers	NHDF-Ad	bronchial
50	chr11:8792200-8795600	Enhancers	NHEK	skin

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