Variant report

Variant	rs9320176
Chromosome Location	chr6:106993684-106993685
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	chr6:106982665..106985601-chr6:106993025..106995759,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11153007	0.90[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs11968775	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12208356	0.93[AFR][1000 genomes];0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9486389	0.90[AFR][1000 genomes];0.84[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	nsv932155	chr6:106281728-107030467	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv532047	chr6:106591482-107143252	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv870375	chr6:106696090-107047892	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv1017419	chr6:106984669-106997000	Enhancers Strong transcription Flanking Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9320176	AIM1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:106961000-107001400	Weak transcription	Gastric	stomach
2	chr6:106964800-107029800	Weak transcription	Small Intestine	intestine
3	chr6:106970600-107022400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr6:106978800-106993800	Weak transcription	NHLF	lung
5	chr6:106979000-107001400	Weak transcription	Pancreas	Pancrea
6	chr6:106981600-106995600	Weak transcription	Colonic Mucosa	Colon
7	chr6:106982400-107000800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr6:106985000-106993800	Weak transcription	NH-A	brain
9	chr6:106985800-107019200	Weak transcription	Aorta	Aorta
10	chr6:106986200-106994000	Weak transcription	Stomach Mucosa	stomach
11	chr6:106986400-106994600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr6:106986400-106995000	Weak transcription	Thymus	Thymus
13	chr6:106986800-106994400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr6:106987400-106993800	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr6:106987800-106993800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr6:106988200-106993800	Weak transcription	Esophagus	oesophagus
17	chr6:106988200-107001400	Weak transcription	Lung	lung
18	chr6:106988400-106994000	Strong transcription	GM12878-XiMat	blood
19	chr6:106988400-106995600	Weak transcription	HUES48 Cell Line	embryonic stem cell
20	chr6:106988800-106994600	Strong transcription	Duodenum Mucosa	Duodenum
21	chr6:106989000-106994000	Strong transcription	Fetal Intestine Large	intestine
22	chr6:106989200-106994000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:106989200-106994600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr6:106989400-106993800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr6:106989800-106993800	Strong transcription	Primary neutrophils fromperipheralblood	blood
26	chr6:106989800-106994000	Weak transcription	Hela-S3	cervix
27	chr6:106989800-106995800	Weak transcription	Fetal Stomach	stomach
28	chr6:106991000-106993800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr6:106991000-106993800	Weak transcription	HSMM	muscle
30	chr6:106991200-106993800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr6:106991200-106994000	Strong transcription	Primary T cells from cord blood	blood
32	chr6:106991200-106994600	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr6:106991200-106999600	Strong transcription	Dnd41	blood
34	chr6:106991400-106994800	Strong transcription	Liver	Liver
35	chr6:106992000-106993800	Weak transcription	Spleen	Spleen
36	chr6:106992000-106994800	Weak transcription	Fetal Intestine Small	intestine
37	chr6:106992000-106995400	Weak transcription	Colon Smooth Muscle	Colon
38	chr6:106992600-106996400	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
39	chr6:106992600-106996600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:106992800-106994400	Genic enhancers	Primary B cells from cord blood	blood
41	chr6:106992800-106995800	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
42	chr6:106993000-106993800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr6:106993000-106994000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr6:106993000-106994000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr6:106993000-106994400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr6:106993200-106993800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr6:106993200-106993800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr6:106993200-106994000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr6:106993200-106994000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr6:106993200-106994000	Weak transcription	HepG2	liver

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