Variant report

Variant	rs7131166
Chromosome Location	chr11:8848463-8848464
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:8847441..8849119-chr11:9018204..9019722,2	K562	blood:
2	chr11:8847275..8850671-chr11:8853327..8856938,3	K562	blood:
3	chr11:8701773..8703653-chr11:8846645..8848951,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166444	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs10743086	0.87[CEU][hapmap]
rs10769961	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10769965	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10840119	0.87[CEU][hapmap]
rs10840120	0.88[CEU][hapmap];0.84[CHD][hapmap]
rs10840128	0.89[CEU][hapmap];0.82[EUR][1000 genomes]
rs10840131	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs10840132	0.98[ASN][1000 genomes]
rs11042064	0.88[CEU][hapmap]
rs11042085	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11042087	0.98[ASN][1000 genomes]
rs11042089	0.98[ASN][1000 genomes]
rs12269980	0.88[CEU][hapmap];0.84[CHD][hapmap]
rs12287694	0.88[CEU][hapmap]
rs12419731	0.96[ASN][1000 genomes]
rs12420964	0.88[CEU][hapmap];0.81[CHD][hapmap]
rs13377459	0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs16906037	0.88[CEU][hapmap]
rs2243566	0.81[CHD][hapmap]
rs2316863	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2568025	0.83[ASW][hapmap];0.91[LWK][hapmap];0.82[MKK][hapmap]
rs2568031	0.88[LWK][hapmap]
rs2568032	0.86[LWK][hapmap]
rs3763917	0.88[CEU][hapmap];0.87[CHD][hapmap]
rs3763919	0.84[CHD][hapmap]
rs3913547	0.88[CEU][hapmap];0.84[CHD][hapmap]
rs4082668	0.88[CEU][hapmap]
rs4244805	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4929918	0.94[ASW][hapmap];0.94[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.91[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4929919	0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6484007	0.82[CEU][hapmap]
rs6484606	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7105372	0.82[CEU][hapmap]
rs7127564	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7930737	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7930878	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7935617	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[TSI][hapmap];0.98[ASN][1000 genomes]
rs7947553	0.97[AFR][1000 genomes];0.90[AMR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	nsv435923	chr11:8839325-9000602	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs7131166	TMEM9B	Cis_1M	lymphoblastoid	RTeQTL
rs7131166	RPL27A	cis	cerebellum	SCAN
rs7131166	DNHD1	cis	parietal	SCAN
rs7131166	CSNK2A1P	cis	cerebellum	SCAN
rs7131166	PPFIBP2	cis	parietal	SCAN
rs7131166	DNHD1	cis	cerebellum	SCAN

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:8833200-8859800	Weak transcription	Aorta	Aorta
2	chr11:8835600-8848800	Weak transcription	Stomach Smooth Muscle	stomach
3	chr11:8836400-8849800	Weak transcription	Fetal Intestine Small	intestine
4	chr11:8836600-8850400	Weak transcription	Fetal Lung	lung
5	chr11:8836800-8848600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr11:8837000-8850000	Weak transcription	Lung	lung
7	chr11:8837200-8848600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr11:8839000-8849400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr11:8839200-8849600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr11:8845200-8854200	Weak transcription	Psoas Muscle	Psoas
11	chr11:8845800-8860000	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr11:8846600-8854400	Weak transcription	Fetal Intestine Large	intestine
13	chr11:8846800-8849000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr11:8847000-8849200	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr11:8847000-8849400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr11:8847000-8852800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr11:8847200-8849000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
18	chr11:8847200-8849000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr11:8847200-8849200	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr11:8847200-8849200	Enhancers	NHDF-Ad	bronchial
21	chr11:8847200-8849400	Enhancers	ES-I3 Cell Line	embryonic stem cell
22	chr11:8847200-8849400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr11:8847200-8849400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr11:8847200-8849800	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr11:8847200-8849800	Enhancers	NHLF	lung
26	chr11:8847400-8849200	Enhancers	Fetal Heart	heart
27	chr11:8847400-8849200	Enhancers	HepG2	liver
28	chr11:8847400-8850400	Enhancers	K562	blood
29	chr11:8847600-8848600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr11:8847600-8848800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr11:8847600-8849000	Enhancers	Fetal Muscle Leg	muscle
32	chr11:8847600-8849000	Enhancers	A549	lung
33	chr11:8847600-8849000	Enhancers	HUVEC	blood vessel
34	chr11:8847600-8849200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr11:8847600-8849400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr11:8847600-8849600	Enhancers	Placenta	Placenta
37	chr11:8847600-8850400	Enhancers	Ovary	ovary
38	chr11:8847600-8852600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr11:8847800-8848600	Enhancers	Brain Hippocampus Middle	brain
40	chr11:8847800-8848600	Enhancers	Fetal Stomach	stomach
41	chr11:8847800-8848800	Enhancers	HMEC	breast
42	chr11:8847800-8849000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
43	chr11:8847800-8849000	Enhancers	Stomach Mucosa	stomach
44	chr11:8847800-8849000	Enhancers	Hela-S3	cervix
45	chr11:8847800-8849200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr11:8848000-8848800	Weak transcription	Fetal Muscle Trunk	muscle
47	chr11:8848000-8849000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr11:8848000-8849000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr11:8848000-8849000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:8848000-8849200	Enhancers	H9 Cell Line	embryonic stem cell

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