Variant report

Variant	rs4871622
Chromosome Location	chr8:126618736-126618737
allele	C/T
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	chr8:126612687..126615177-chr8:126616929..126619166,2	MCF-7	breast:
2	chr8:126441405..126444224-chr8:126614301..126619460,8	MCF-7	breast:
3	chr8:126610735..126612592-chr8:126617138..126620158,3	MCF-7	breast:
4	chr8:126602067..126602597-chr8:126618483..126619059,2	MCF-7	breast:
5	chr8:126612725..126615017-chr8:126618565..126620143,2	MCF-7	breast:
6	chr8:126605898..126607935-chr8:126618594..126621504,4	MCF-7	breast:
7	chr8:126608438..126611381-chr8:126617335..126619462,2	K562	blood:
8	chr8:126618476..126621676-chr8:126622245..126624732,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000173334	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs1454621	0.94[CHB][hapmap];0.91[JPT][hapmap]
rs1979221	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs4871620	0.94[CHB][hapmap];0.92[JPT][hapmap];0.83[ASN][1000 genomes]
rs6470367	0.94[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs7001297	0.82[ASN][1000 genomes]
rs7002040	0.94[CHB][hapmap];0.91[JPT][hapmap];0.83[ASN][1000 genomes]
rs897159	0.94[CHB][hapmap];0.92[JPT][hapmap];0.82[ASN][1000 genomes]
rs969584	1.00[CEU][hapmap];0.98[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	nsv891437	chr8:126470817-126629328	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv6377	chr8:126579620-126639253	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv38	chr8:126593465-126639253	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:126608600-126619800	Weak transcription	Small Intestine	intestine
2	chr8:126609600-126619800	Weak transcription	Esophagus	oesophagus
3	chr8:126611800-126622600	Enhancers	Primary B cells from peripheral blood	blood
4	chr8:126612200-126625400	Enhancers	Primary B cells from cord blood	blood
5	chr8:126613200-126621800	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr8:126613400-126619000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
7	chr8:126613600-126620600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr8:126613600-126620800	Enhancers	HMEC	breast
9	chr8:126613600-126621000	Enhancers	NHEK	skin
10	chr8:126613800-126621000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr8:126614200-126620000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr8:126615600-126620400	Weak transcription	HUVEC	blood vessel
13	chr8:126616400-126621600	Enhancers	Placenta	Placenta
14	chr8:126616400-126622800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr8:126616600-126618800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr8:126616600-126619000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr8:126616600-126619000	Enhancers	Duodenum Mucosa	Duodenum
18	chr8:126616600-126619400	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr8:126616600-126619400	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr8:126616800-126619600	Weak transcription	Brain Cingulate Gyrus	brain
21	chr8:126616800-126619600	Weak transcription	Brain Substantia Nigra	brain
22	chr8:126616800-126620400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:126616800-126621600	Enhancers	Primary T cells fromperipheralblood	blood
24	chr8:126616800-126621600	Enhancers	Primary T helper cells PMA-I stimulated	--
25	chr8:126617000-126618800	Enhancers	ES-I3 Cell Line	embryonic stem cell
26	chr8:126617000-126619400	Weak transcription	Cortex derived primary cultured neurospheres	brain
27	chr8:126617000-126619600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr8:126617000-126619600	Weak transcription	Brain Anterior Caudate	brain
29	chr8:126617200-126619000	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr8:126617200-126619000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr8:126617200-126619600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr8:126617200-126619800	Weak transcription	Adipose Nuclei	Adipose
33	chr8:126617200-126619800	Weak transcription	Osteobl	bone
34	chr8:126617400-126619800	Weak transcription	Stomach Mucosa	stomach
35	chr8:126617400-126621600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr8:126617400-126621600	Enhancers	Primary T helper cells fromperipheralblood	blood
37	chr8:126617600-126619600	Weak transcription	Brain Hippocampus Middle	brain
38	chr8:126617600-126619800	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr8:126617600-126620600	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr8:126617800-126619000	Enhancers	H1 Cell Line	embryonic stem cell
41	chr8:126617800-126619400	Enhancers	GM12878-XiMat	blood
42	chr8:126617800-126621000	Enhancers	Hela-S3	cervix
43	chr8:126618000-126618800	Enhancers	Placenta Amnion	Placenta Amnion
44	chr8:126618000-126619600	Weak transcription	Fetal Thymus	thymus
45	chr8:126618000-126620000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
46	chr8:126618000-126621400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr8:126618200-126619200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr8:126618400-126618800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr8:126618400-126618800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr8:126618400-126618800	Enhancers	Colonic Mucosa	Colon

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