Variant report

Variant	rs330914
Chromosome Location	chr8:8996695-8996696
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	ATF2	chr8:8996017-8996707	GM12878	blood:	n/a	n/a
2	POLR2A	chr8:8991597-8999830	HUVEC	blood vessel:	n/a	n/a
3	ELF1	chr8:8996406-8996747	GM12878	blood:	n/a	n/a
4	POLR2A	chr8:8992645-8997055	K562	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000254340	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs12785	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs330903	0.85[EUR][1000 genomes]
rs330904	0.86[EUR][1000 genomes]
rs330905	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs330908	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs330909	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs330910	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs330911	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs330912	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs330913	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs330915	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs330916	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs330917	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs330918	0.87[EUR][1000 genomes]
rs330919	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs330920	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs330922	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs330923	0.88[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs330924	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs408773	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs9949	0.82[AMR][1000 genomes];0.88[EUR][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	nsv917117	chr8:8621658-9313799	Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1022468	chr8:8857853-9209167	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv539460	chr8:8857853-9209167	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv817373	chr8:8857854-9361049	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
5	nsv1022328	chr8:8954003-9061281	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
6	nsv610206	chr8:8961017-9162048	Genic enhancers Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv1026279	chr8:8982622-9030279	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	n/a
8	nsv949434	chr8:8993551-9318404	Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
9	nsv824529	chr8:8996139-8996926	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers	TF binding region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:8987800-8997400	Weak transcription	Spleen	Spleen
2	chr8:8989200-8997400	Weak transcription	Gastric	stomach
3	chr8:8989600-8996800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr8:8990400-8997600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:8992600-9000000	Weak transcription	Hela-S3	cervix
6	chr8:8993400-8997200	Weak transcription	Esophagus	oesophagus
7	chr8:8993400-8997400	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr8:8993400-8997800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr8:8993600-9005400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr8:8993800-8997400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr8:8993800-8997600	Weak transcription	Primary T cells fromperipheralblood	blood
12	chr8:8993800-8997600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:8993800-8997600	Weak transcription	HMEC	breast
14	chr8:8993800-8998400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr8:8993800-8998600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr8:8993800-9007400	Weak transcription	Brain Inferior Temporal Lobe	brain
17	chr8:8994000-8997200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr8:8994000-8997600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr8:8994000-8997600	Weak transcription	Brain Substantia Nigra	brain
20	chr8:8994000-8997600	Weak transcription	Thymus	Thymus
21	chr8:8994000-8997800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr8:8994000-8997800	Weak transcription	Brain Hippocampus Middle	brain
23	chr8:8994200-8996800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr8:8994200-8996800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr8:8994200-8996800	Weak transcription	NHLF	lung
26	chr8:8994200-8997200	Weak transcription	Ovary	ovary
27	chr8:8994200-8997400	Weak transcription	Primary B cells from cord blood	blood
28	chr8:8994200-8997400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr8:8994200-8997400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr8:8994200-8997400	Weak transcription	Colonic Mucosa	Colon
31	chr8:8994200-8997400	Weak transcription	Fetal Thymus	thymus
32	chr8:8994200-8997400	Weak transcription	K562	blood
33	chr8:8994200-8997400	Weak transcription	NH-A	brain
34	chr8:8994200-8997600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:8994200-8997600	Weak transcription	Fetal Kidney	kidney
36	chr8:8994200-8997600	Weak transcription	Pancreatic Islets	Pancreatic Islet
37	chr8:8994200-8997600	Weak transcription	Pancreas	Pancrea
38	chr8:8994200-8997800	Weak transcription	A549	lung
39	chr8:8994200-9000800	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr8:8994200-9005600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr8:8994200-9007200	Weak transcription	Brain Angular Gyrus	brain
42	chr8:8994200-9007200	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:8994200-9007200	Weak transcription	Fetal Brain Male	brain
44	chr8:8994400-8996800	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr8:8994400-8996800	Weak transcription	Colon Smooth Muscle	Colon
46	chr8:8994400-8997400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr8:8994400-8997400	Weak transcription	Primary B cells from peripheral blood	blood
48	chr8:8994400-8997400	Weak transcription	Primary hematopoietic stem cells	blood
49	chr8:8994400-8997400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr8:8994400-8997400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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