Variant report

Variant	rs7001375
Chromosome Location	chr8:125594916-125594917
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:125552970..125555595-chr8:125593265..125595640,2	K562	blood:
2	chr8:125588942..125591890-chr8:125593901..125595656,2	K562	blood:
3	chr8:125592407..125595560-chr8:125595966..125599501,3	K562	blood:
4	chr8:125591885..125595054-chr8:125597547..125600154,4	K562	blood:
5	chr8:125592807..125597329-chr8:125826255..125829411,6	K562	blood:
6	chr8:125593451..125595490-chr8:125966290..125968595,2	K562	blood:

Variant related genes	Relation type
ENSG00000147684	Chromatin interaction
ENSG00000272486	Chromatin interaction
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10099060	0.80[EUR][1000 genomes]
rs10103765	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10505445	1.00[CEU][hapmap];0.87[CHB][hapmap];0.85[CHD][hapmap];0.95[GIH][hapmap];0.86[JPT][hapmap];0.92[MEX][hapmap];0.97[TSI][hapmap];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11779706	0.94[CEU][hapmap];0.92[EUR][1000 genomes]
rs1988734	0.86[GIH][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs3857943	0.81[EUR][1000 genomes]
rs3857944	0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs4870903	0.90[TSI][hapmap]
rs6470251	0.81[EUR][1000 genomes]
rs6470252	0.86[GIH][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs6991135	1.00[CEU][hapmap];0.95[CHB][hapmap];0.91[JPT][hapmap];0.88[YRI][hapmap];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7821505	0.92[EUR][1000 genomes]
rs7824951	0.86[GIH][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs7828897	0.84[GIH][hapmap];0.89[TSI][hapmap];0.81[EUR][1000 genomes]
rs7838223	0.94[CEU][hapmap];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525649	chr8:125565328-125600818	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv1024804	chr8:125575803-125600950	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv1025014	chr8:125578314-125600950	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:97 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125566000-125602400	Weak transcription	Aorta	Aorta
2	chr8:125566400-125600600	Weak transcription	NHEK	skin
3	chr8:125570800-125605000	Weak transcription	Colon Smooth Muscle	Colon
4	chr8:125574400-125609400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr8:125575600-125600600	Weak transcription	Fetal Kidney	kidney
6	chr8:125576800-125598200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:125578000-125598600	Weak transcription	Gastric	stomach
8	chr8:125578200-125598000	Weak transcription	Primary hematopoietic stem cells	blood
9	chr8:125579400-125601600	Weak transcription	Brain Anterior Caudate	brain
10	chr8:125581200-125596400	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr8:125584400-125617200	Weak transcription	Colonic Mucosa	Colon
12	chr8:125585000-125598400	Strong transcription	Liver	Liver
13	chr8:125585400-125609000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr8:125586400-125596600	Strong transcription	Fetal Intestine Small	intestine
15	chr8:125586400-125603600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
16	chr8:125586600-125598000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr8:125586800-125598200	Strong transcription	Primary B cells from cord blood	blood
18	chr8:125586800-125598200	Weak transcription	Pancreas	Pancrea
19	chr8:125586800-125605000	Weak transcription	Right Atrium	heart
20	chr8:125586800-125605000	Weak transcription	NHDF-Ad	bronchial
21	chr8:125587000-125597000	Strong transcription	Fetal Brain Female	brain
22	chr8:125587000-125603400	Weak transcription	Stomach Mucosa	stomach
23	chr8:125587200-125595600	Weak transcription	Brain Substantia Nigra	brain
24	chr8:125587200-125605400	Weak transcription	Fetal Lung	lung
25	chr8:125587200-125605800	Weak transcription	Psoas Muscle	Psoas
26	chr8:125588600-125596000	Strong transcription	Spleen	Spleen
27	chr8:125588800-125597400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr8:125588800-125603400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:125589000-125595400	Strong transcription	Brain Germinal Matrix	brain
30	chr8:125589200-125595400	Strong transcription	Left Ventricle	heart
31	chr8:125589600-125597200	Strong transcription	Fetal Intestine Large	intestine
32	chr8:125589800-125597600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr8:125590200-125596400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr8:125590200-125596800	Strong transcription	HMEC	breast
35	chr8:125590400-125597400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr8:125590600-125600600	Weak transcription	Stomach Smooth Muscle	stomach
37	chr8:125590800-125595800	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr8:125590800-125596000	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:125590800-125596400	Weak transcription	Brain Angular Gyrus	brain
40	chr8:125590800-125596600	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:125590800-125598800	Weak transcription	Right Ventricle	heart
42	chr8:125590800-125600600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
43	chr8:125590800-125603600	Strong transcription	HepG2	liver
44	chr8:125591000-125595200	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr8:125591000-125602600	Weak transcription	NHLF	lung
46	chr8:125591400-125595600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr8:125591400-125597200	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr8:125591400-125603600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr8:125591600-125595000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr8:125591800-125603000	Weak transcription	Fetal Brain Male	brain

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