Variant report

Variant	rs7932702
Chromosome Location	chr11:4124372-4124373
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	chr11:4114277..4116935-chr11:4123036..4125551,3	K562	blood:

Variant related genes	Relation type
ENSG00000167325	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10742242	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10767811	0.81[CHB][hapmap]
rs10767845	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10835508	0.81[CHB][hapmap]
rs10835521	0.81[CHB][hapmap]
rs10835540	0.81[CHB][hapmap]
rs10835556	0.81[CHB][hapmap]
rs10835561	0.81[CHB][hapmap]
rs10835596	0.81[CHB][hapmap];0.84[CHD][hapmap]
rs10835604	0.81[CHB][hapmap]
rs10835611	0.95[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10835684	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10835719	0.83[TSI][hapmap]
rs11030639	0.80[CHB][hapmap];0.82[CHD][hapmap]
rs11030781	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs11030918	0.91[CEU][hapmap];0.87[CHB][hapmap];0.89[CHD][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11031110	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12290828	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12806698	0.84[ASW][hapmap];0.82[CEU][hapmap];0.93[CHB][hapmap];0.86[CHD][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[ASN][1000 genomes]
rs1442726	0.81[CHB][hapmap]
rs2044135	0.84[ASW][hapmap];0.83[TSI][hapmap]
rs2056853	0.95[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2165728	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2268168	0.95[CEU][hapmap];0.93[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2284450	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34832073	0.94[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35359151	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3817657	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4910599	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4910877	0.81[CHB][hapmap]
rs4910886	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910887	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4910888	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4910889	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4910891	0.94[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs4910904	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7111104	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7130580	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];0.92[JPT][hapmap];0.88[MEX][hapmap];0.97[TSI][hapmap];0.86[ASN][1000 genomes]
rs7940013	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7949663	0.86[ASN][1000 genomes]
rs963998	0.81[CHB][hapmap];0.82[CHD][hapmap]
rs9666229	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9666857	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[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	nsv896896	chr11:4010409-4185595	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	esv2758253	chr11:4055945-4510188	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
3	esv2759797	chr11:4055945-4510188	Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv428248	chr11:4055945-4510188	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
5	nsv832053	chr11:4096527-4330263	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	nsv1053189	chr11:4123119-4359044	Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs7932702	ANO9	cis	parietal	SCAN
rs7932702	RRM1	cis	Thyroid	GTEx
rs7932702	RRM1	cis	cerebellum	SCAN
rs7932702	RRM1	cis	Artery Tibial	GTEx
rs7932702	TRIM5	cis	cerebellum	SCAN
rs7932702	TRIM21	cis	cerebellum	SCAN
rs7932702	IFITM5	cis	cerebellum	SCAN

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:4117000-4124600	Weak transcription	Aorta	Aorta
2	chr11:4117000-4124600	Weak transcription	Left Ventricle	heart
3	chr11:4117000-4137200	Weak transcription	Esophagus	oesophagus
4	chr11:4117000-4141000	Weak transcription	Ovary	ovary
5	chr11:4117200-4126800	Weak transcription	Psoas Muscle	Psoas
6	chr11:4117200-4127400	Weak transcription	Rectal Mucosa Donor 31	rectum
7	chr11:4117200-4142200	Weak transcription	Colonic Mucosa	Colon
8	chr11:4117400-4124600	Weak transcription	Lung	lung
9	chr11:4117400-4124600	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr11:4117400-4125800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr11:4117400-4141800	Weak transcription	Small Intestine	intestine
12	chr11:4117600-4124600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr11:4117600-4124800	Weak transcription	Fetal Intestine Small	intestine
14	chr11:4117600-4125200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:4117600-4125800	Weak transcription	Liver	Liver
16	chr11:4117600-4126400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr11:4117600-4126400	Weak transcription	Fetal Intestine Large	intestine
18	chr11:4117600-4126600	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:4117600-4126600	Weak transcription	Spleen	Spleen
20	chr11:4117600-4127000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr11:4117600-4127000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr11:4117600-4127200	Weak transcription	Brain Hippocampus Middle	brain
23	chr11:4117600-4127200	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:4117600-4128600	Weak transcription	Brain Substantia Nigra	brain
25	chr11:4117600-4129200	Weak transcription	Brain Cingulate Gyrus	brain
26	chr11:4117600-4129800	Weak transcription	Fetal Heart	heart
27	chr11:4117600-4133000	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr11:4117600-4137400	Weak transcription	Right Ventricle	heart
29	chr11:4117600-4144600	Weak transcription	HSMMtube	muscle
30	chr11:4117600-4145200	Weak transcription	Gastric	stomach
31	chr11:4117600-4153000	Weak transcription	Stomach Mucosa	stomach
32	chr11:4117800-4124800	Weak transcription	Primary monocytes fromperipheralblood	blood
33	chr11:4117800-4126400	Weak transcription	Brain Angular Gyrus	brain
34	chr11:4117800-4126400	Weak transcription	Rectal Mucosa Donor 29	rectum
35	chr11:4117800-4126800	Weak transcription	NHLF	lung
36	chr11:4117800-4127000	Weak transcription	Colon Smooth Muscle	Colon
37	chr11:4117800-4147800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
38	chr11:4117800-4160200	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr11:4118000-4125200	Weak transcription	Cortex derived primary cultured neurospheres	brain
40	chr11:4118000-4159200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr11:4118400-4124800	Weak transcription	Pancreas	Pancrea
42	chr11:4118400-4125800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr11:4118400-4126200	Weak transcription	Fetal Lung	lung
44	chr11:4118400-4127000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr11:4118400-4146400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr11:4118400-4156200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr11:4118600-4124600	Weak transcription	Fetal Muscle Trunk	muscle
48	chr11:4118600-4124600	Weak transcription	Fetal Stomach	stomach
49	chr11:4118600-4125800	Weak transcription	HUVEC	blood vessel
50	chr11:4118800-4126600	Weak transcription	NHEK	skin

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