Variant report

Variant	rs10960805
Chromosome Location	chr9:12812148-12812149
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	chr9:12796888..12798629-chr9:12811320..12813907,2	MCF-7	breast:
2	chr9:12785493..12787579-chr9:12811391..12813312,2	MCF-7	breast:

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10122949	0.88[EUR][1000 genomes]
rs10960800	0.89[EUR][1000 genomes]
rs10960803	0.85[EUR][1000 genomes]
rs10960804	0.85[EUR][1000 genomes]
rs10960806	0.82[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs10960807	0.81[ASN][1000 genomes]
rs10960808	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs10960812	0.82[ASN][1000 genomes]
rs10960813	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1318454	0.89[EUR][1000 genomes]
rs34919266	0.85[EUR][1000 genomes]
rs4397503	0.85[EUR][1000 genomes]
rs6474732	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6474733	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6474736	0.80[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs71507332	0.89[EUR][1000 genomes]
rs7846724	0.84[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs7859336	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9298684	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869288	chr9:12286919-12816766	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv498136	chr9:12387840-12984158	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	esv2422212	chr9:12448789-13127738	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv1030835	chr9:12717405-12840928	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
5	nsv892573	chr9:12730636-12874703	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv892574	chr9:12754969-12918226	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
7	nsv892575	chr9:12804243-12852462	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:12785800-12813600	Weak transcription	Fetal Intestine Large	intestine
2	chr9:12786000-12813600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
3	chr9:12786000-12813600	Weak transcription	Fetal Intestine Small	intestine
4	chr9:12792000-12817200	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr9:12795800-12813400	Weak transcription	Fetal Kidney	kidney
6	chr9:12795800-12813800	Weak transcription	Fetal Stomach	stomach
7	chr9:12798600-12812800	Weak transcription	NH-A	brain
8	chr9:12802400-12812800	Weak transcription	HUVEC	blood vessel
9	chr9:12802400-12814000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr9:12808600-12818400	Weak transcription	Fetal Brain Male	brain
11	chr9:12809200-12814000	Weak transcription	Psoas Muscle	Psoas
12	chr9:12809200-12817200	Weak transcription	Small Intestine	intestine
13	chr9:12809200-12821400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:12809600-12814200	Weak transcription	Brain Hippocampus Middle	brain
15	chr9:12810000-12814000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr9:12810200-12813400	Weak transcription	HepG2	liver
17	chr9:12810200-12813600	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr9:12810200-12813800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:12810200-12814000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:12810400-12813600	Weak transcription	Stomach Mucosa	stomach
21	chr9:12810400-12814000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
22	chr9:12810400-12814000	Weak transcription	Aorta	Aorta
23	chr9:12810400-12814000	Weak transcription	Brain Angular Gyrus	brain
24	chr9:12810400-12817600	Weak transcription	Gastric	stomach
25	chr9:12810600-12812200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr9:12810600-12813800	Weak transcription	Adipose Nuclei	Adipose
27	chr9:12810800-12813800	Weak transcription	Cortex derived primary cultured neurospheres	brain
28	chr9:12811400-12812200	Genic enhancers	Fetal Lung	lung
29	chr9:12811400-12812600	ZNF genes & repeats	A549	lung
30	chr9:12811400-12813400	Weak transcription	Rectal Smooth Muscle	rectum
31	chr9:12811600-12812200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr9:12811600-12812200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr9:12811600-12812200	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr9:12811600-12812200	ZNF genes & repeats	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr9:12811600-12812200	ZNF genes & repeats	HMEC	breast
36	chr9:12811600-12812600	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr9:12811600-12813800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr9:12811800-12812200	Enhancers	Pancreas	Pancrea
39	chr9:12811800-12812400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:12811800-12812400	Enhancers	Hela-S3	cervix
41	chr9:12811800-12812400	Transcr. at gene 5' and 3'	NHEK	skin
42	chr9:12811800-12812600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:12812000-12812200	Weak transcription	Osteobl	bone
44	chr9:12812000-12812400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr9:12812000-12812600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr9:12812000-12812600	Weak transcription	NHLF	lung
47	chr9:12812000-12813400	Enhancers	NHDF-Ad	bronchial
48	chr9:12812000-12814000	Enhancers	Colon Smooth Muscle	Colon
49	chr9:12812000-12814000	Weak transcription	HSMMtube	muscle

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