Variant report

Variant	rs10810116
Chromosome Location	chr9:14206358-14206359
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	chr9:14198598..14200536-chr9:14204416..14206854,2	MCF-7	breast:
2	chr9:14203657..14206657-chr9:14311874..14315004,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000147862	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10119190	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10756540	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10756541	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10810117	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10961428	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12339675	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12551619	0.85[EUR][1000 genomes]
rs7040930	0.83[ASN][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	nsv1033764	chr9:13764918-14226168	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription 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	8 gene(s)	inside rSNPs	diseases
2	nsv892593	chr9:13948798-14233159	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv1023303	chr9:14025605-14286269	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv540069	chr9:14025605-14286269	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1029491	chr9:14033607-14942373	Enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv429998	chr9:14043516-14214688	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
7	nsv892596	chr9:14145487-14208724	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
8	nsv892597	chr9:14163383-14233159	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	nsv915804	chr9:14182608-14903050	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:14192800-14207400	Weak transcription	Spleen	Spleen
2	chr9:14192800-14213400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr9:14199000-14209200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr9:14199200-14209600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr9:14199400-14207400	Weak transcription	Esophagus	oesophagus
6	chr9:14199400-14207400	Weak transcription	Gastric	stomach
7	chr9:14199400-14209400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr9:14199400-14215800	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr9:14200200-14207200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr9:14200200-14207400	Weak transcription	Lung	lung
11	chr9:14201200-14220000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr9:14203000-14206600	Enhancers	Muscle Satellite Cultured Cells	--
13	chr9:14203000-14212000	Weak transcription	Fetal Intestine Small	intestine
14	chr9:14203800-14206400	Enhancers	HUVEC	blood vessel
15	chr9:14203800-14207000	Weak transcription	Brain Germinal Matrix	brain
16	chr9:14203800-14207400	Weak transcription	Brain Anterior Caudate	brain
17	chr9:14203800-14207800	Enhancers	Osteobl	bone
18	chr9:14203800-14209600	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr9:14203800-14211600	Weak transcription	HSMMtube	muscle
20	chr9:14203800-14214200	Weak transcription	Brain Substantia Nigra	brain
21	chr9:14203800-14217200	Enhancers	Fetal Heart	heart
22	chr9:14203800-14219000	Weak transcription	Ovary	ovary
23	chr9:14203800-14221800	Weak transcription	Brain Cingulate Gyrus	brain
24	chr9:14204000-14206800	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr9:14204000-14209000	Weak transcription	Brain Hippocampus Middle	brain
26	chr9:14204000-14211800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr9:14204000-14213000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr9:14204000-14221800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr9:14204200-14211600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr9:14204400-14206400	Enhancers	NHLF	lung
31	chr9:14204400-14206800	Enhancers	Fetal Muscle Leg	muscle
32	chr9:14204400-14208200	Enhancers	Liver	Liver
33	chr9:14204400-14208800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr9:14204400-14209000	Weak transcription	Fetal Brain Male	brain
35	chr9:14204600-14207400	Weak transcription	Fetal Muscle Trunk	muscle
36	chr9:14204600-14208000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr9:14204800-14207200	Weak transcription	Psoas Muscle	Psoas
38	chr9:14204800-14207200	Weak transcription	Stomach Smooth Muscle	stomach
39	chr9:14204800-14207400	Weak transcription	Aorta	Aorta
40	chr9:14204800-14208000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr9:14204800-14208000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
42	chr9:14204800-14208000	Enhancers	Skeletal Muscle Female	skeletal muscle
43	chr9:14204800-14208000	Enhancers	HMEC	breast
44	chr9:14205000-14207200	Weak transcription	Pancreas	Pancrea
45	chr9:14205000-14207400	Weak transcription	Left Ventricle	heart
46	chr9:14205000-14207400	Weak transcription	Right Atrium	heart
47	chr9:14205000-14208200	Enhancers	NHEK	skin
48	chr9:14205400-14206400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr9:14205400-14206600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr9:14205400-14206600	Enhancers	Hela-S3	cervix

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