Variant report

Variant	rs34453305
Chromosome Location	chr9:116920120-116920121
allele	AA/CC
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:116918121..116920168-chr9:116937255..116940070,3	K562	blood:
2	chr9:116918924..116921858-chr9:116922744..116925296,3	K562	blood:

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12555894	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1469598	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1991707	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7038752	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	esv2422396	chr9:116792944-117354862	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
3	esv2422492	chr9:116811294-117366643	Genic enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	155 gene(s)	inside rSNPs	diseases
4	esv2761285	chr9:116811897-117103268	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
5	nsv870215	chr9:116842614-117070344	Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	124 gene(s)	inside rSNPs	diseases
6	nsv893752	chr9:116899258-116944333	Flanking Bivalent TSS/Enh Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	nsv466526	chr9:116901926-116924781	Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv615226	chr9:116901926-116924781	Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
9	nsv615227	chr9:116904534-116924781	Bivalent/Poised TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv466527	chr9:116907448-116933449	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
11	nsv615228	chr9:116907448-116933449	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
12	nsv466529	chr9:116907553-116930194	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
13	nsv615229	chr9:116907553-116930194	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
14	nsv466530	chr9:116916931-116935660	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
15	nsv615230	chr9:116916931-116935660	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
16	nsv466531	chr9:116916931-116940418	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
17	nsv615231	chr9:116916931-116940418	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:116919000-116920800	Transcr. at gene 5' and 3'	HepG2	liver
2	chr9:116919000-116922400	Enhancers	Stomach Mucosa	stomach
3	chr9:116919000-116925800	Weak transcription	Gastric	stomach
4	chr9:116919000-116936600	Weak transcription	Brain Hippocampus Middle	brain
5	chr9:116919000-116937600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr9:116919200-116920200	Flanking Active TSS	NHEK	skin
7	chr9:116919200-116921000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr9:116919200-116972000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr9:116919400-116920200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr9:116919400-116920400	Enhancers	HMEC	breast
11	chr9:116919400-116920600	Enhancers	Pancreas	Pancrea
12	chr9:116919400-116920600	Enhancers	Right Ventricle	heart
13	chr9:116919400-116920800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr9:116919400-116920800	Enhancers	HUVEC	blood vessel
15	chr9:116919400-116921000	Bivalent Enhancer	Placenta	Placenta
16	chr9:116919400-116921600	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr9:116919400-116922600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:116919400-116925800	Weak transcription	Ovary	ovary
19	chr9:116919400-116930000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:116919600-116920200	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr9:116919600-116920400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr9:116919600-116920400	Enhancers	NHLF	lung
23	chr9:116919600-116920600	Enhancers	Esophagus	oesophagus
24	chr9:116919600-116921000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr9:116919600-116921000	Enhancers	Rectal Smooth Muscle	rectum
26	chr9:116919600-116921800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr9:116919600-116921800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr9:116919600-116922200	Genic enhancers	Fetal Stomach	stomach
29	chr9:116919600-116922400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr9:116919600-116923800	Enhancers	Fetal Muscle Leg	muscle
31	chr9:116919600-116924600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr9:116919600-116925000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr9:116919600-116925000	Weak transcription	HSMM	muscle
34	chr9:116919600-116925600	Weak transcription	Fetal Heart	heart
35	chr9:116919600-116939600	Weak transcription	Hela-S3	cervix
36	chr9:116919800-116920200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr9:116919800-116920200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr9:116919800-116920200	Enhancers	Skeletal Muscle Female	skeletal muscle
39	chr9:116919800-116920600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr9:116919800-116920600	Enhancers	Colon Smooth Muscle	Colon
41	chr9:116919800-116920800	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr9:116919800-116920800	Weak transcription	Aorta	Aorta
43	chr9:116919800-116921000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr9:116919800-116921200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr9:116919800-116921200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr9:116919800-116921400	Weak transcription	A549	lung
47	chr9:116919800-116921600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr9:116919800-116924400	Weak transcription	Right Atrium	heart
49	chr9:116919800-116925600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr9:116919800-116925600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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