Variant report

Variant	rs3134129
Chromosome Location	chr8:107698016-107698017
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:107697168..107698852-chr8:107737587..107739721,2	K562	blood:
2	chr8:107668570..107671221-chr8:107695666..107698146,4	MCF-7	breast:
3	chr8:107670067..107672090-chr8:107697639..107700027,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253582	Chromatin interaction
ENSG00000164830	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11988518	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11996457	0.93[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12676199	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs12681427	0.82[ASN][1000 genomes]
rs1542644	0.90[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1954790	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2126579	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2881423	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs3101531	0.81[ASN][1000 genomes]
rs3101532	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3101533	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3101534	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3101538	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3101539	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3102431	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3102432	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3102434	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3110429	1.00[ASN][1000 genomes]
rs3132806	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3132807	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3134127	0.95[ASN][1000 genomes]
rs6469077	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs6983111	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7000202	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7817274	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831419	chr8:107624709-107827801	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv611845	chr8:107689295-107698966	Strong transcription Weak transcription Enhancers ZNF genes & repeats	TF binding region Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:107672200-107718800	Weak transcription	Psoas Muscle	Psoas
2	chr8:107672400-107718600	Weak transcription	Rectal Smooth Muscle	rectum
3	chr8:107677600-107709400	Weak transcription	Pancreas	Pancrea
4	chr8:107677600-107718800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
5	chr8:107679200-107738200	Weak transcription	Right Ventricle	heart
6	chr8:107681200-107730200	Weak transcription	Small Intestine	intestine
7	chr8:107683800-107718800	Weak transcription	Hela-S3	cervix
8	chr8:107686000-107709200	Weak transcription	Gastric	stomach
9	chr8:107686200-107709200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr8:107686400-107709000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr8:107686400-107709000	Weak transcription	Esophagus	oesophagus
12	chr8:107686400-107709000	Weak transcription	Spleen	Spleen
13	chr8:107686600-107709000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr8:107686600-107709000	Weak transcription	Fetal Stomach	stomach
15	chr8:107686600-107711800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr8:107687200-107707600	Weak transcription	Fetal Intestine Small	intestine
17	chr8:107687200-107709000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:107688000-107713000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:107688600-107709200	Weak transcription	Aorta	Aorta
20	chr8:107688600-107718600	Weak transcription	Stomach Mucosa	stomach
21	chr8:107690200-107730600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr8:107690400-107709200	Weak transcription	Ovary	ovary
23	chr8:107691600-107718600	Weak transcription	K562	blood
24	chr8:107692000-107738400	Weak transcription	Colon Smooth Muscle	Colon
25	chr8:107692400-107700800	Weak transcription	Brain Hippocampus Middle	brain
26	chr8:107692600-107706400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr8:107692800-107700000	Strong transcription	Primary T helper cells fromperipheralblood	blood
28	chr8:107692800-107700000	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr8:107692800-107725800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr8:107693000-107709800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:107693200-107699600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:107693200-107699800	Strong transcription	Primary B cells from peripheral blood	blood
33	chr8:107693200-107700600	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr8:107693600-107706600	Strong transcription	Liver	Liver
35	chr8:107693800-107699800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr8:107693800-107701600	Strong transcription	Primary B cells from cord blood	blood
37	chr8:107694000-107699400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr8:107694600-107699600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr8:107694600-107719000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr8:107694600-107738000	Weak transcription	Fetal Heart	heart
41	chr8:107695000-107698600	Strong transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:107695000-107699200	Weak transcription	Lung	lung
43	chr8:107695000-107725800	Weak transcription	NHLF	lung
44	chr8:107695200-107698200	Strong transcription	HepG2	liver
45	chr8:107695200-107699600	Strong transcription	Rectal Mucosa Donor 29	rectum
46	chr8:107695400-107698400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
47	chr8:107695600-107698200	Strong transcription	GM12878-XiMat	blood
48	chr8:107695800-107698200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
49	chr8:107695800-107698400	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:107695800-107698400	Strong transcription	Skeletal Muscle Female	skeletal muscle

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