Variant report

Variant	rs34917849
Chromosome Location	chr8:95278307-95278308
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:95274119..95275817-chr8:95277862..95279971,2	K562	blood:
2	chr8:95273813..95275817-chr8:95277078..95279971,2	K562	blood:

Variant related genes	Relation type
ENSG00000164949	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10956909	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11998093	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12675257	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12678484	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16916666	0.86[ASN][1000 genomes]
rs17734840	0.86[ASN][1000 genomes]
rs17735424	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17797394	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2623166	0.84[ASN][1000 genomes]
rs2623168	0.83[EUR][1000 genomes]
rs3179604	0.86[ASN][1000 genomes]
rs72672638	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72672639	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.96[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	nsv1024907	chr8:95188944-95296378	Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv539677	chr8:95188944-95296378	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1024893	chr8:95189085-95293557	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1035036	chr8:95213244-95283014	Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv831401	chr8:95218297-95393968	Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1022382	chr8:95261955-95283587	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv1023617	chr8:95261955-95284414	Genic enhancers Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1017301	chr8:95273503-96248352	Weak transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
9	nsv539680	chr8:95273503-96248352	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:95275000-95278600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:95275000-95284000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr8:95275200-95278600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr8:95275200-95278600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr8:95275200-95284200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr8:95275200-95284200	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr8:95275400-95278400	Weak transcription	NHEK	skin
8	chr8:95275400-95278600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:95275400-95278800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr8:95275400-95284000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr8:95275400-95284200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr8:95275400-95284600	Weak transcription	Pancreas	Pancrea
13	chr8:95275600-95278400	Weak transcription	Fetal Lung	lung
14	chr8:95275600-95278400	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr8:95275600-95278400	Weak transcription	Stomach Mucosa	stomach
16	chr8:95275600-95278600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr8:95275600-95279400	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:95275600-95284000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:95275800-95278400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr8:95275800-95279000	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr8:95275800-95279000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr8:95276000-95278400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr8:95276000-95284600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr8:95276000-95286600	Weak transcription	Right Atrium	heart
25	chr8:95276200-95278400	Weak transcription	HMEC	breast
26	chr8:95276200-95278600	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr8:95276200-95278600	Weak transcription	Fetal Heart	heart
28	chr8:95276200-95278600	Weak transcription	A549	lung
29	chr8:95276400-95278600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr8:95276400-95278600	Weak transcription	Fetal Stomach	stomach
31	chr8:95276800-95279200	Enhancers	Fetal Intestine Small	intestine
32	chr8:95277000-95279200	Enhancers	Fetal Intestine Large	intestine
33	chr8:95278000-95278400	Weak transcription	Small Intestine	intestine
34	chr8:95278000-95278600	Weak transcription	Aorta	Aorta
35	chr8:95278200-95278600	Enhancers	Placenta	Placenta
36	chr8:95278200-95279000	Enhancers	NHDF-Ad	bronchial

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