Variant report

Variant	rs17187621
Chromosome Location	chr9:116362738-116362739
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr9:116353752..116357757-chr9:116360190..116364418,7	K562	blood:
2	chr9:116355462..116357757-chr9:116360945..116362836,2	K562	blood:
3	chr9:116354705..116357000-chr9:116361323..116363210,2	MCF-7	breast:
4	chr9:116357889..116361731-chr9:116362609..116366505,5	MCF-7	breast:
5	chr9:116362421..116364215-chr9:116382528..116385259,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000138835	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10739393	0.85[JPT][hapmap]
rs10981815	0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs10981830	0.84[EUR][1000 genomes]
rs12347382	0.83[EUR][1000 genomes]
rs12350531	0.88[CHB][hapmap];1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12351728	0.83[EUR][1000 genomes]
rs12685417	0.88[CHB][hapmap];0.89[CHD][hapmap];0.92[JPT][hapmap]
rs12686023	0.88[CHB][hapmap];0.92[JPT][hapmap];0.80[ASN][1000 genomes]
rs4979253	0.92[JPT][hapmap]
rs4979261	0.85[JPT][hapmap]
rs518636	1.00[CHB][hapmap];1.00[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];0.82[YRI][hapmap];0.82[AFR][1000 genomes];0.97[ASN][1000 genomes]
rs55714377	0.83[EUR][1000 genomes]
rs58449392	0.80[ASN][1000 genomes]
rs6478012	0.83[ASW][hapmap]
rs72761906	0.82[EUR][1000 genomes]
rs72761963	0.82[EUR][1000 genomes]
rs72761965	0.83[EUR][1000 genomes]
rs72763856	0.96[AFR][1000 genomes];0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7851937	0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs7852118	0.89[TSI][hapmap];0.83[EUR][1000 genomes]
rs7855434	0.83[EUR][1000 genomes]
rs7857217	0.83[EUR][1000 genomes]
rs7864467	0.89[TSI][hapmap]
rs7870142	0.83[EUR][1000 genomes]
rs7870912	0.85[TSI][hapmap]
rs818714	0.85[JPT][hapmap]
rs884898	0.89[TSI][hapmap];0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530949	chr9:115821128-116487796	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv893747	chr9:116214058-116386438	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv466508	chr9:116244982-116362738	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv615215	chr9:116244982-116362738	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv526579	chr9:116244982-116391162	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
6	nsv893748	chr9:116308709-116421786	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv430093	chr9:116330446-117325446	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active 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 miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv466509	chr9:116356516-116396098	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
9	nsv615216	chr9:116356516-116396098	Enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17187621	C9orf91	cis	cerebellum	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116352400-116363200	Weak transcription	Thymus	Thymus
2	chr9:116357400-116364800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr9:116357400-116364800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr9:116357800-116363000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr9:116357800-116364400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:116358000-116371800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr9:116358200-116362800	Strong transcription	Fetal Intestine Small	intestine
8	chr9:116358400-116363400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr9:116359200-116363400	Enhancers	Psoas Muscle	Psoas
10	chr9:116359600-116363000	Genic enhancers	Fetal Stomach	stomach
11	chr9:116359600-116363800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr9:116359800-116362800	Weak transcription	Ovary	ovary
13	chr9:116359800-116364400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr9:116360000-116364000	Genic enhancers	NHLF	lung
15	chr9:116360000-116364200	Weak transcription	Fetal Thymus	thymus
16	chr9:116360200-116363600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr9:116360200-116363600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr9:116360200-116363800	Enhancers	Right Atrium	heart
19	chr9:116360200-116364000	Weak transcription	GM12878-XiMat	blood
20	chr9:116360200-116365400	Enhancers	Skeletal Muscle Female	skeletal muscle
21	chr9:116360200-116366400	Enhancers	Placenta	Placenta
22	chr9:116360400-116363000	Weak transcription	Fetal Kidney	kidney
23	chr9:116360400-116363400	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr9:116360400-116363600	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr9:116360400-116363600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr9:116360400-116364000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr9:116360400-116364200	Weak transcription	HUES64 Cell Line	embryonic stem cell
28	chr9:116360400-116364400	Weak transcription	Small Intestine	intestine
29	chr9:116360400-116364600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr9:116360400-116364600	Weak transcription	Fetal Brain Female	brain
31	chr9:116360400-116371800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr9:116360600-116363200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr9:116360600-116363400	Weak transcription	Brain Hippocampus Middle	brain
34	chr9:116360600-116363600	Weak transcription	Brain Cingulate Gyrus	brain
35	chr9:116360600-116363800	Weak transcription	Brain Angular Gyrus	brain
36	chr9:116360600-116363800	Weak transcription	Esophagus	oesophagus
37	chr9:116360600-116364000	Weak transcription	Primary B cells from peripheral blood	blood
38	chr9:116360600-116364000	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr9:116360600-116364000	Weak transcription	Stomach Mucosa	stomach
40	chr9:116360600-116364200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr9:116360600-116365800	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr9:116360600-116366000	Enhancers	Right Ventricle	heart
43	chr9:116360800-116362800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr9:116360800-116363000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
45	chr9:116360800-116363000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr9:116360800-116364200	Weak transcription	Gastric	stomach
47	chr9:116360800-116364400	Weak transcription	Rectal Mucosa Donor 31	rectum
48	chr9:116360800-116366000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr9:116360800-116366000	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr9:116360800-116366000	Enhancers	NHDF-Ad	bronchial

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