Variant report

Variant	rs9692869
Chromosome Location	chr8:118903024-118903025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:118901302..118903490-chr8:119123908..119125633,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000182197	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10103490	0.82[CHB][hapmap]
rs10106675	0.81[JPT][hapmap]
rs10110572	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10808489	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.98[CHD][hapmap];0.98[GIH][hapmap];0.90[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.83[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11774623	0.81[JPT][hapmap]
rs11777874	0.81[JPT][hapmap]
rs13251971	0.92[CEU][hapmap];0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs13266866	0.92[CEU][hapmap];0.83[GIH][hapmap];0.82[MEX][hapmap];0.98[TSI][hapmap];0.90[EUR][1000 genomes]
rs13275942	1.00[CEU][hapmap];0.89[GIH][hapmap];0.81[EUR][1000 genomes]
rs13280053	0.81[GIH][hapmap];0.83[TSI][hapmap]
rs17430610	0.81[JPT][hapmap]
rs17450863	0.81[JPT][hapmap]
rs17450876	0.81[JPT][hapmap]
rs17452966	0.81[JPT][hapmap]
rs17475190	0.81[JPT][hapmap]
rs17503900	0.82[CHB][hapmap]
rs28357271	0.81[JPT][hapmap]
rs6469715	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs6981592	1.00[CEU][hapmap];0.87[GIH][hapmap]
rs6990519	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs6997503	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7002023	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs7007735	0.81[JPT][hapmap]
rs7012890	0.81[JPT][hapmap]
rs7014561	0.96[CEU][hapmap];0.84[GIH][hapmap];0.81[EUR][1000 genomes]
rs7814022	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7820452	0.81[JPT][hapmap]
rs7822297	0.81[JPT][hapmap]
rs7841914	1.00[CEU][hapmap];1.00[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	nsv1019636	chr8:118598433-118946091	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
2	nsv539734	chr8:118598433-118946091	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
3	nsv933516	chr8:118764605-119009093	Weak transcription Enhancers Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	nsv1030459	chr8:118840179-119155835	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv831440	chr8:118871930-119052269	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
6	nsv891411	chr8:118891896-118942698	Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS ZNF genes & repeats	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1032355	chr8:118896733-119003223	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv465785	chr8:118901928-118970300	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	nsv612046	chr8:118901928-118970300	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9692869	COLEC10	cis	parietal	SCAN

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:118876200-118904400	Weak transcription	Right Ventricle	heart
2	chr8:118881200-118907600	Weak transcription	Duodenum Mucosa	Duodenum
3	chr8:118881400-118904600	Weak transcription	Lung	lung
4	chr8:118881400-118917400	Weak transcription	Esophagus	oesophagus
5	chr8:118888200-118908600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:118889800-118904200	Weak transcription	Left Ventricle	heart
7	chr8:118890000-118914600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:118891200-118910400	Weak transcription	Psoas Muscle	Psoas
9	chr8:118894200-118904400	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr8:118894600-118905000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:118894600-118912200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr8:118894800-118904200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr8:118894800-118904400	Weak transcription	NH-A	brain
14	chr8:118894800-118905200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr8:118894800-118905600	Weak transcription	HMEC	breast
16	chr8:118896200-118904400	Weak transcription	NHDF-Ad	bronchial
17	chr8:118896800-118904400	Weak transcription	Pancreas	Pancrea
18	chr8:118896800-118905400	Weak transcription	Stomach Mucosa	stomach
19	chr8:118896800-118909000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr8:118897400-118903800	Weak transcription	NHLF	lung
21	chr8:118897600-118908000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr8:118899000-118907000	Weak transcription	HUVEC	blood vessel
23	chr8:118899400-118904400	Weak transcription	Liver	Liver
24	chr8:118900200-118907800	Weak transcription	Primary T cells from cord blood	blood
25	chr8:118900400-118905600	Weak transcription	HSMMtube	muscle
26	chr8:118900600-118904600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr8:118901200-118903400	Weak transcription	Fetal Heart	heart
28	chr8:118901400-118904600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
29	chr8:118901400-118905200	Weak transcription	Fetal Lung	lung
30	chr8:118901400-118905600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
31	chr8:118901600-118904200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:118901600-118905800	Weak transcription	Aorta	Aorta
33	chr8:118901600-118908600	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr8:118901600-118908800	Weak transcription	Fetal Intestine Small	intestine
35	chr8:118901600-118909200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:118901800-118908600	Weak transcription	Fetal Muscle Leg	muscle
37	chr8:118902200-118904400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr8:118902200-118904400	Weak transcription	HSMM	muscle
39	chr8:118902400-118903800	Enhancers	Osteobl	bone
40	chr8:118902600-118903400	Enhancers	Right Atrium	heart
41	chr8:118902600-118903400	Enhancers	Sigmoid Colon	Sigmoid Colon
42	chr8:118902600-118903600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr8:118902600-118904000	Enhancers	Rectal Mucosa Donor 31	rectum
44	chr8:118902600-118904600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr8:118902600-118905600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr8:118902600-118906200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:118902800-118905200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr8:118902800-118906400	Enhancers	Cortex derived primary cultured neurospheres	brain
49	chr8:118903000-118903200	Enhancers	Small Intestine	intestine
50	chr8:118903000-118903400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain

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