Variant report

Variant	rs11780949
Chromosome Location	chr8:125643782-125643783
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr8:125642013..125645236-chr8:125863862..125867426,3	MCF-7	breast:
2	chr8:125638629..125643985-chr8:125739070..125743029,6	MCF-7	breast:
3	chr8:125625162..125628141-chr8:125641706..125644000,2	MCF-7	breast:
4	chr8:125643150..125645424-chr8:125657174..125658686,2	K562	blood:
5	chr8:125638351..125644610-chr8:125826258..125829486,6	K562	blood:
6	chr8:125621598..125623778-chr8:125643368..125646296,3	K562	blood:
7	chr8:125642370..125644650-chr8:125657174..125658829,2	K562	blood:
8	chr8:125640733..125644991-chr8:125647355..125650506,7	K562	blood:
9	chr8:125617959..125620895-chr8:125642902..125645461,3	MCF-7	breast:
10	chr8:125640852..125644024-chr8:125644604..125648826,4	MCF-7	breast:
11	chr8:125628873..125632428-chr8:125641301..125644055,3	MCF-7	breast:
12	chr8:125640493..125643874-chr8:125825913..125829115,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction
ENSG00000170873	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10105407	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11777231	0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11778543	0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11785482	0.85[JPT][hapmap]
rs4007936	0.93[JPT][hapmap]
rs4510845	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4870915	0.87[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];0.95[TSI][hapmap];0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4871524	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]
rs4871525	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871527	0.93[JPT][hapmap]
rs56995505	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62530686	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62530688	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62530689	0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62530690	0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6992199	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7017138	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];0.86[MKK][hapmap];0.95[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7827042	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7840832	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7843950	0.93[JPT][hapmap]

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:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125619200-125649000	Weak transcription	Colonic Mucosa	Colon
2	chr8:125634800-125646600	Weak transcription	Primary T cells from cord blood	blood
3	chr8:125636400-125644400	Enhancers	Brain Inferior Temporal Lobe	brain
4	chr8:125636600-125644000	Enhancers	Fetal Heart	heart
5	chr8:125636600-125644200	Enhancers	Placenta	Placenta
6	chr8:125637000-125644200	Enhancers	Thymus	Thymus
7	chr8:125637200-125651000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
8	chr8:125637800-125644200	Enhancers	K562	blood
9	chr8:125638000-125644200	Enhancers	Psoas Muscle	Psoas
10	chr8:125638000-125644400	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr8:125638200-125644600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr8:125639000-125643800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr8:125639000-125643800	Enhancers	Lung	lung
14	chr8:125639200-125644200	Enhancers	Fetal Muscle Leg	muscle
15	chr8:125639200-125646600	Weak transcription	Pancreatic Islets	Pancreatic Islet
16	chr8:125639400-125644200	Enhancers	Spleen	Spleen
17	chr8:125639600-125649800	Weak transcription	Fetal Brain Female	brain
18	chr8:125640000-125646400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr8:125640800-125644200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr8:125640800-125644200	Enhancers	Left Ventricle	heart
21	chr8:125640800-125644200	Enhancers	Right Ventricle	heart
22	chr8:125640800-125644600	Enhancers	Brain Anterior Caudate	brain
23	chr8:125640800-125645000	Enhancers	Liver	Liver
24	chr8:125640800-125646800	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr8:125640800-125647000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr8:125641000-125644200	Enhancers	Right Atrium	heart
27	chr8:125641000-125647600	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr8:125641200-125644200	Enhancers	Brain Germinal Matrix	brain
29	chr8:125641200-125644400	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr8:125641200-125644400	Enhancers	Skeletal Muscle Female	skeletal muscle
31	chr8:125641200-125646600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr8:125641200-125664200	Enhancers	Primary B cells from peripheral blood	blood
33	chr8:125641400-125644000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr8:125641400-125646600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
35	chr8:125641600-125643800	Enhancers	HMEC	breast
36	chr8:125641600-125644200	Enhancers	Osteobl	bone
37	chr8:125641600-125644400	Enhancers	Fetal Muscle Trunk	muscle
38	chr8:125641800-125644000	Enhancers	Primary hematopoietic stem cells short term culture	blood
39	chr8:125641800-125644200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
40	chr8:125641800-125644200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr8:125641800-125644200	Enhancers	Brain Substantia Nigra	brain
42	chr8:125641800-125644200	Enhancers	Esophagus	oesophagus
43	chr8:125641800-125644400	Enhancers	Brain Hippocampus Middle	brain
44	chr8:125641800-125644400	Genic enhancers	Fetal Intestine Small	intestine
45	chr8:125641800-125644400	Enhancers	Fetal Thymus	thymus
46	chr8:125641800-125644600	Enhancers	Primary B cells from cord blood	blood
47	chr8:125642000-125644200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
48	chr8:125642000-125644200	Enhancers	Fetal Intestine Large	intestine
49	chr8:125642000-125646600	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr8:125642200-125644000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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