Variant report

Variant	rs7851411
Chromosome Location	chr9:109770808-109770809
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:109770602-109771343	H1-hESC	embryonic stem cell:	n/a	n/a
2	GATA2	chr9:109770321-109771203	SH-SY5Y	brain:	n/a	chr9:109770951-109770960 chr9:109770951-109770958 chr9:109770951-109770958 chr9:109770944-109770965 chr9:109770951-109770958 chr9:109770950-109770960

Variant related genes	Relation type
ZNF462	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12006197	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12684556	1.00[CEU][hapmap]
rs12686587	1.00[CEU][hapmap]
rs16925955	1.00[CEU][hapmap]
rs16926038	1.00[TSI][hapmap]
rs16926052	1.00[CEU][hapmap]
rs56218650	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57653222	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58112361	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7031901	1.00[CEU][hapmap]
rs7039109	1.00[CEU][hapmap]
rs7040608	1.00[EUR][1000 genomes]
rs7043419	1.00[CEU][hapmap]
rs73524955	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7848294	1.00[CEU][hapmap]
rs7859220	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7865611	1.00[CEU][hapmap]
rs7874076	1.00[CEU][hapmap]
rs7875577	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869202	chr9:108940763-109811530	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats 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 miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869351	chr9:109593212-110191170	Active TSS Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv831680	chr9:109653596-109848827	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv893697	chr9:109757432-109809366	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
5	nsv530948	chr9:109760752-110413602	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:109728000-109776200	Weak transcription	NHDF-Ad	bronchial
2	chr9:109733200-109775200	Weak transcription	Gastric	stomach
3	chr9:109736800-109777400	Weak transcription	HUVEC	blood vessel
4	chr9:109739600-109773000	Weak transcription	Dnd41	blood
5	chr9:109740000-109776000	Weak transcription	Psoas Muscle	Psoas
6	chr9:109740200-109772200	Weak transcription	Colonic Mucosa	Colon
7	chr9:109740200-109777200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr9:109741800-109771000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr9:109746200-109774600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr9:109746800-109778600	Weak transcription	NHLF	lung
11	chr9:109747000-109772200	Weak transcription	Osteobl	bone
12	chr9:109747200-109772200	Weak transcription	Muscle Satellite Cultured Cells	--
13	chr9:109747400-109771400	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr9:109747400-109771600	Weak transcription	Brain Angular Gyrus	brain
15	chr9:109747800-109771200	Weak transcription	Rectal Smooth Muscle	rectum
16	chr9:109752000-109771000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr9:109752000-109772400	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr9:109754800-109771800	Weak transcription	Spleen	Spleen
19	chr9:109757200-109774000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:109758000-109772200	Weak transcription	Fetal Kidney	kidney
21	chr9:109761800-109774800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:109762600-109772200	Weak transcription	HMEC	breast
23	chr9:109764000-109774200	Strong transcription	Fetal Lung	lung
24	chr9:109764400-109772200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr9:109764400-109774000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr9:109764800-109774000	Strong transcription	Stomach Smooth Muscle	stomach
27	chr9:109765400-109772000	Weak transcription	Pancreas	Pancrea
28	chr9:109765600-109773200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
29	chr9:109765600-109773800	Strong transcription	Adipose Nuclei	Adipose
30	chr9:109765800-109772200	Weak transcription	Esophagus	oesophagus
31	chr9:109766200-109771000	Weak transcription	Brain Anterior Caudate	brain
32	chr9:109766800-109771000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr9:109766800-109771600	Weak transcription	Colon Smooth Muscle	Colon
34	chr9:109768000-109771800	Weak transcription	Rectal Mucosa Donor 31	rectum
35	chr9:109768200-109771000	Genic enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr9:109768200-109773800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:109768600-109773200	Weak transcription	Primary hematopoietic stem cells	blood
38	chr9:109768600-109773800	Strong transcription	Fetal Stomach	stomach
39	chr9:109768600-109774000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr9:109768600-109774600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr9:109768600-109774600	Strong transcription	Fetal Muscle Leg	muscle
42	chr9:109768600-109775000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr9:109768800-109771200	Enhancers	Fetal Brain Male	brain
44	chr9:109768800-109772600	Strong transcription	Fetal Intestine Small	intestine
45	chr9:109768800-109773800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr9:109768800-109774000	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr9:109768800-109774600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr9:109769000-109772200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr9:109769400-109771000	Enhancers	Brain Germinal Matrix	brain
50	chr9:109769400-109772200	Strong transcription	Breast Myoepithelial Primary Cells	Breast

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