Variant report

Variant	rs71516752
Chromosome Location	chr8:125641693-125641694
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125630930..125633554-chr8:125639086..125641953,3	K562	blood:
2	chr8:125628680..125631257-chr8:125639768..125642424,2	K562	blood:
3	chr8:125640772..125642364-chr8:125869019..125870864,2	MCF-7	breast:
4	chr8:125638629..125643985-chr8:125739070..125743029,6	MCF-7	breast:
5	chr8:125639696..125643717-chr8:125738373..125742110,6	MCF-7	breast:
6	chr8:125638351..125644610-chr8:125826258..125829486,6	K562	blood:
7	chr8:125627308..125630217-chr8:125638327..125642424,3	K562	blood:
8	chr8:125636094..125637667-chr8:125641302..125642987,2	MCF-7	breast:
9	chr8:125640310..125641819-chr8:125649857..125651732,2	MCF-7	breast:
10	chr8:125624893..125627739-chr8:125639327..125643495,3	MCF-7	breast:
11	chr8:125639927..125641909-chr8:125654623..125657042,2	MCF-7	breast:
12	chr8:125640733..125644991-chr8:125647355..125650506,7	K562	blood:
13	chr8:125638065..125640378-chr8:125640492..125642045,2	K562	blood:
14	chr8:125640852..125644024-chr8:125644604..125648826,4	MCF-7	breast:
15	chr8:125628873..125632428-chr8:125641301..125644055,3	MCF-7	breast:
16	chr8:125640493..125643874-chr8:125825913..125829115,5	K562	blood:
17	chr8:125639634..125641843-chr8:125985419..125987948,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000180938	Chromatin interaction
ENSG00000255491	Chromatin interaction
ENSG00000170873	Chromatin interaction
ENSG00000255080	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13248930	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs13258904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71516751	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[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	nsv1027585	chr8:125627924-125707738	Weak transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv891434	chr8:125630655-126324432	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	80 gene(s)	inside rSNPs	diseases
3	esv275526	chr8:125640964-125650653	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125619200-125649000	Weak transcription	Colonic Mucosa	Colon
2	chr8:125633400-125643200	Weak transcription	Fetal Kidney	kidney
3	chr8:125633800-125642400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
4	chr8:125634400-125641800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
5	chr8:125634800-125646600	Weak transcription	Primary T cells from cord blood	blood
6	chr8:125636400-125644400	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr8:125636600-125644000	Enhancers	Fetal Heart	heart
8	chr8:125636600-125644200	Enhancers	Placenta	Placenta
9	chr8:125637000-125644200	Enhancers	Thymus	Thymus
10	chr8:125637200-125651000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr8:125637800-125644200	Enhancers	K562	blood
12	chr8:125638000-125643000	Enhancers	Brain Cingulate Gyrus	brain
13	chr8:125638000-125644200	Enhancers	Psoas Muscle	Psoas
14	chr8:125638000-125644400	Enhancers	Cortex derived primary cultured neurospheres	brain
15	chr8:125638200-125643200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr8:125638200-125644600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr8:125638600-125641800	Weak transcription	Fetal Stomach	stomach
18	chr8:125639000-125643800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:125639000-125643800	Enhancers	Lung	lung
20	chr8:125639200-125642200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr8:125639200-125642400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr8:125639200-125642600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr8:125639200-125644200	Enhancers	Fetal Muscle Leg	muscle
24	chr8:125639200-125646600	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr8:125639400-125644200	Enhancers	Spleen	Spleen
26	chr8:125639600-125642200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr8:125639600-125642200	Weak transcription	Stomach Mucosa	stomach
28	chr8:125639600-125649800	Weak transcription	Fetal Brain Female	brain
29	chr8:125639800-125641800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr8:125640000-125641800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr8:125640000-125641800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr8:125640000-125641800	Weak transcription	Esophagus	oesophagus
33	chr8:125640000-125641800	Enhancers	Hela-S3	cervix
34	chr8:125640000-125642000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr8:125640000-125642400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:125640000-125642400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr8:125640000-125642400	Weak transcription	Pancreas	Pancrea
38	chr8:125640000-125646400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
39	chr8:125640200-125642800	Enhancers	HSMM	muscle
40	chr8:125640200-125643000	Enhancers	NHDF-Ad	bronchial
41	chr8:125640400-125643400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr8:125640600-125641800	Weak transcription	Fetal Intestine Small	intestine
43	chr8:125640800-125641800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:125640800-125641800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr8:125640800-125641800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr8:125640800-125642000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr8:125640800-125642400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chr8:125640800-125642400	Enhancers	HepG2	liver
49	chr8:125640800-125642800	Enhancers	Muscle Satellite Cultured Cells	--
50	chr8:125640800-125643000	Enhancers	Primary monocytes fromperipheralblood	blood

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