Variant report

Variant	rs919543
Chromosome Location	chr8:125639676-125639677
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125630930..125633554-chr8:125639086..125641953,3	K562	blood:
2	chr8:125631062..125635661-chr8:125637990..125641115,5	MCF-7	breast:
3	chr8:125638065..125640378-chr8:125640492..125642045,2	K562	blood:
4	chr8:125638629..125643985-chr8:125739070..125743029,6	MCF-7	breast:
5	chr8:125552236..125554783-chr8:125637109..125639947,2	MCF-7	breast:
6	chr8:125638351..125644610-chr8:125826258..125829486,6	K562	blood:
7	chr8:125633578..125635485-chr8:125639312..125641576,2	K562	blood:
8	chr8:125627308..125630217-chr8:125638327..125642424,3	K562	blood:
9	chr8:125624893..125627739-chr8:125639327..125643495,3	MCF-7	breast:
10	chr8:125639634..125641843-chr8:125985419..125987948,2	MCF-7	breast:

No data

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

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs1023694	1.00[CEU][hapmap]
rs16893079	1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs16899867	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap]
rs16899868	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap]
rs16899870	1.00[CEU][hapmap];0.81[CHB][hapmap];0.88[CHD][hapmap];0.90[JPT][hapmap]
rs16899873	1.00[CEU][hapmap]
rs16899876	1.00[CEU][hapmap];0.82[JPT][hapmap];0.82[ASN][1000 genomes]
rs1978662	0.81[CHD][hapmap];0.82[JPT][hapmap]
rs3750231	1.00[CEU][hapmap];0.81[CHB][hapmap];0.90[JPT][hapmap]
rs934323	1.00[CEU][hapmap];0.81[CHB][hapmap];0.87[CHD][hapmap];0.90[JPT][hapmap]

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	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

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125618000-125640400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr8:125619200-125649000	Weak transcription	Colonic Mucosa	Colon
3	chr8:125629400-125640200	Enhancers	Fetal Brain Male	brain
4	chr8:125631800-125639800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr8:125632400-125640200	Weak transcription	Rectal Smooth Muscle	rectum
6	chr8:125632400-125640600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr8:125633400-125643200	Weak transcription	Fetal Kidney	kidney
8	chr8:125633800-125641000	Weak transcription	Osteobl	bone
9	chr8:125633800-125642400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr8:125634400-125641800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr8:125634800-125639800	Weak transcription	Primary T helper cells PMA-I stimulated	--
12	chr8:125634800-125646600	Weak transcription	Primary T cells from cord blood	blood
13	chr8:125635400-125640600	Weak transcription	Colon Smooth Muscle	Colon
14	chr8:125635800-125641000	Enhancers	Fetal Thymus	thymus
15	chr8:125635800-125641200	Enhancers	Fetal Muscle Trunk	muscle
16	chr8:125636400-125640600	Strong transcription	Fetal Intestine Small	intestine
17	chr8:125636400-125644400	Enhancers	Brain Inferior Temporal Lobe	brain
18	chr8:125636600-125639800	Enhancers	Adipose Nuclei	Adipose
19	chr8:125636600-125639800	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr8:125636600-125640000	Enhancers	Brain Angular Gyrus	brain
21	chr8:125636600-125640200	Enhancers	Right Atrium	heart
22	chr8:125636600-125641200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
23	chr8:125636600-125644000	Enhancers	Fetal Heart	heart
24	chr8:125636600-125644200	Enhancers	Placenta	Placenta
25	chr8:125636800-125639800	Enhancers	Left Ventricle	heart
26	chr8:125636800-125640000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr8:125636800-125640200	Enhancers	Liver	Liver
28	chr8:125636800-125641400	Enhancers	Brain Substantia Nigra	brain
29	chr8:125637000-125644200	Enhancers	Thymus	Thymus
30	chr8:125637200-125651000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr8:125637400-125640600	Enhancers	Right Ventricle	heart
32	chr8:125637600-125639800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr8:125637600-125640400	Enhancers	Brain Anterior Caudate	brain
34	chr8:125637600-125640800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr8:125637800-125644200	Enhancers	K562	blood
36	chr8:125638000-125639800	Enhancers	Brain Germinal Matrix	brain
37	chr8:125638000-125639800	Weak transcription	Stomach Smooth Muscle	stomach
38	chr8:125638000-125640000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:125638000-125640400	Enhancers	Brain Hippocampus Middle	brain
40	chr8:125638000-125643000	Enhancers	Brain Cingulate Gyrus	brain
41	chr8:125638000-125644200	Enhancers	Psoas Muscle	Psoas
42	chr8:125638000-125644400	Enhancers	Cortex derived primary cultured neurospheres	brain
43	chr8:125638200-125639800	Genic enhancers	HepG2	liver
44	chr8:125638200-125640200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr8:125638200-125643200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr8:125638200-125644600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr8:125638400-125640000	Enhancers	Esophagus	oesophagus
48	chr8:125638400-125640000	Weak transcription	Monocytes-CD14+_RO01746	blood
49	chr8:125638600-125639800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr8:125638600-125640400	Enhancers	NHEK	skin

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