Variant report

Variant	rs298617
Chromosome Location	chr8:130899961-130899962
allele	A/C
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	chr8:130899847-130900116	A549	lung:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:130899351..130900915-chr8:130924645..130927634,2	K562	blood:
2	chr8:130899088..130900930-chr8:130904428..130906156,2	K562	blood:
3	chr8:130838576..130840911-chr8:130898985..130901514,2	K562	blood:

Variant related genes	Relation type
ENSG00000254263	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10956502	0.85[ASN][1000 genomes]
rs11984804	0.87[ASN][1000 genomes]
rs167238	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs167239	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16904166	0.87[ASN][1000 genomes]
rs1979477	0.94[ASN][1000 genomes]
rs2046260	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2054632	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs212992	0.95[AMR][1000 genomes];0.83[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2306528	0.85[ASN][1000 genomes]
rs2449417	0.89[AMR][1000 genomes];0.80[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs2663613	0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2663618	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2663619	0.82[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs298602	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs298604	0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs298605	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs298606	0.81[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs298607	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298609	0.80[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298610	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298611	0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs298612	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs298613	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298614	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs298615	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298616	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs298618	0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs298619	0.87[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs298620	0.82[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs2989885	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs34983967	0.83[ASN][1000 genomes]
rs367117	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs383209	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs384752	0.81[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs385022	0.98[AMR][1000 genomes];0.87[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs389604	0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs401526	0.98[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs412941	0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs423915	0.92[ASN][1000 genomes]
rs438877	0.83[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4395866	0.87[ASN][1000 genomes]
rs476849	0.88[ASN][1000 genomes]
rs59839253	0.88[ASN][1000 genomes]
rs710616	0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs710617	0.87[ASN][1000 genomes]
rs837065	0.92[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs837075	0.89[ASN][1000 genomes]
rs837076	0.83[AMR][1000 genomes]
rs837079	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs837080	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs837081	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs857233	1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][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	nsv1018045	chr8:130863644-131122644	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	nsv612231	chr8:130868212-131132592	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
3	nsv524349	chr8:130868363-131132592	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv1021229	chr8:130887132-131057897	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1017292	chr8:130887132-131107258	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:130864400-130903600	Weak transcription	Colon Smooth Muscle	Colon
2	chr8:130865600-130907600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:130883400-130900400	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:130885200-130900200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr8:130885200-130912200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr8:130888800-130910600	Weak transcription	Aorta	Aorta
7	chr8:130894400-130901000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr8:130894600-130900000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr8:130894600-130901000	Enhancers	HUVEC	blood vessel
10	chr8:130894800-130901000	Enhancers	HMEC	breast
11	chr8:130895000-130900200	Enhancers	HSMMtube	muscle
12	chr8:130895200-130901000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr8:130895600-130900800	Enhancers	Fetal Heart	heart
14	chr8:130895800-130900800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
15	chr8:130896400-130902000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr8:130896400-130906600	Weak transcription	Fetal Muscle Leg	muscle
17	chr8:130897000-130900000	Enhancers	Primary T helper cells fromperipheralblood	blood
18	chr8:130897000-130901200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
19	chr8:130897200-130900000	Enhancers	Placenta Amnion	Placenta Amnion
20	chr8:130897200-130902000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr8:130897400-130900000	Enhancers	K562	blood
22	chr8:130897400-130900400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:130897400-130900600	Enhancers	Right Atrium	heart
24	chr8:130897400-130901400	Enhancers	Fetal Thymus	thymus
25	chr8:130897400-130902400	Genic enhancers	Primary B cells from cord blood	blood
26	chr8:130897600-130900000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr8:130897600-130900000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:130897600-130900000	Enhancers	Brain Angular Gyrus	brain
29	chr8:130897600-130900200	Enhancers	Primary hematopoietic stem cells	blood
30	chr8:130897600-130900600	Enhancers	Right Ventricle	heart
31	chr8:130897600-130901400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
32	chr8:130897800-130900000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:130897800-130900000	Enhancers	Dnd41	blood
34	chr8:130897800-130900600	Enhancers	Esophagus	oesophagus
35	chr8:130897800-130900800	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr8:130897800-130901000	Enhancers	Spleen	Spleen
37	chr8:130898200-130900000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr8:130898200-130900000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
39	chr8:130898200-130900000	Enhancers	NHDF-Ad	bronchial
40	chr8:130898200-130900200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr8:130898400-130900400	Enhancers	ES-I3 Cell Line	embryonic stem cell
42	chr8:130898400-130900400	Weak transcription	Psoas Muscle	Psoas
43	chr8:130898600-130900600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr8:130898600-130900600	Enhancers	Stomach Mucosa	stomach
45	chr8:130898600-130901000	Enhancers	Duodenum Mucosa	Duodenum
46	chr8:130898600-130901000	Enhancers	Small Intestine	intestine
47	chr8:130898600-130901600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:130898600-130926200	Weak transcription	Brain Hippocampus Middle	brain
49	chr8:130898800-130900000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:130898800-130900000	Enhancers	Lung	lung

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