Variant report

Variant	rs6989407
Chromosome Location	chr8:126343023-126343024
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:126341424..126343336-chr8:126353093..126355921,2	MCF-7	breast:
2	chr8:126288880..126291551-chr8:126340107..126343091,2	K562	blood:
3	chr8:126342278..126347810-chr8:126440203..126444121,7	K562	blood:
4	chr8:126318641..126321559-chr8:126341791..126343679,2	MCF-7	breast:
5	chr8:126322882..126325288-chr8:126341226..126344036,2	MCF-7	breast:
6	chr8:126342754..126344650-chr8:126346334..126348343,3	K562	blood:
7	chr8:126335232..126337186-chr8:126341576..126343163,2	K562	blood:
8	chr8:126341644..126344065-chr8:126344220..126347316,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10099164	0.93[ASN][1000 genomes]
rs10108110	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10505454	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs10808543	1.00[CEU][hapmap];0.95[CHB][hapmap];0.94[JPT][hapmap];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4242368	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4319117	0.80[EUR][1000 genomes]
rs4602904	0.83[JPT][hapmap];0.91[YRI][hapmap]
rs4871584	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4871588	0.82[JPT][hapmap]
rs6470349	0.88[JPT][hapmap];0.80[ASN][1000 genomes]
rs6981550	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7004468	0.82[JPT][hapmap];0.80[ASN][1000 genomes]
rs7010333	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7015414	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7814083	0.93[ASN][1000 genomes]
rs7818760	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7819612	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7820471	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7823958	0.81[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs7835771	0.81[EUR][1000 genomes]
rs7841947	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7844497	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][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	nsv949614	chr8:126063646-126376699	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
2	nsv891436	chr8:126283766-126345076	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	esv3410448	chr8:126339813-126418053	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126318600-126354600	Weak transcription	Ovary	ovary
2	chr8:126322000-126374200	Weak transcription	Aorta	Aorta
3	chr8:126324200-126354200	Weak transcription	Hela-S3	cervix
4	chr8:126329400-126344000	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr8:126330800-126369200	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr8:126331200-126357400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr8:126332400-126345600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr8:126332600-126369400	Weak transcription	Fetal Stomach	stomach
9	chr8:126333000-126354200	Weak transcription	Fetal Lung	lung
10	chr8:126335600-126346000	Weak transcription	Fetal Intestine Small	intestine
11	chr8:126335600-126353200	Weak transcription	Primary B cells from cord blood	blood
12	chr8:126336600-126354200	Weak transcription	Spleen	Spleen
13	chr8:126339400-126346200	Weak transcription	Thymus	Thymus
14	chr8:126340000-126354200	Weak transcription	Esophagus	oesophagus
15	chr8:126340000-126359600	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr8:126340800-126344200	Enhancers	GM12878-XiMat	blood
17	chr8:126340800-126346200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr8:126340800-126347400	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr8:126341200-126343200	Enhancers	Right Ventricle	heart
20	chr8:126341200-126346200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr8:126341400-126344600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr8:126341400-126344800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr8:126341400-126346000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr8:126341400-126346000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr8:126341400-126346200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
26	chr8:126341400-126346600	Weak transcription	Right Atrium	heart
27	chr8:126341600-126343400	Weak transcription	K562	blood
28	chr8:126341600-126343800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr8:126341600-126344000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
30	chr8:126341600-126344400	Weak transcription	Adipose Nuclei	Adipose
31	chr8:126341600-126344600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:126341600-126344800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr8:126341600-126344800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr8:126341600-126344800	Weak transcription	A549	lung
35	chr8:126341600-126344800	Weak transcription	NH-A	brain
36	chr8:126341600-126344800	Weak transcription	Osteobl	bone
37	chr8:126341600-126345000	Weak transcription	NHDF-Ad	bronchial
38	chr8:126341600-126345400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr8:126341600-126345400	Weak transcription	Fetal Muscle Trunk	muscle
40	chr8:126341600-126346000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:126341600-126346000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr8:126341600-126346000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr8:126341600-126346000	Weak transcription	Fetal Muscle Leg	muscle
44	chr8:126341600-126346000	Weak transcription	HSMM	muscle
45	chr8:126341600-126346200	Weak transcription	NHLF	lung
46	chr8:126341600-126346400	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr8:126341600-126354200	Weak transcription	Lung	lung
48	chr8:126341800-126344400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr8:126341800-126346200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr8:126342000-126345200	Weak transcription	HSMMtube	muscle

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