Variant report

Variant	rs4510845
Chromosome Location	chr8:125654560-125654561
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	chr8:125649125..125655229-chr8:125655458..125659458,6	K562	blood:
2	chr8:125653729..125655984-chr8:125656815..125658941,3	K562	blood:
3	chr8:125653582..125656116-chr8:125824961..125827801,3	K562	blood:
4	chr8:125654543..125656464-chr8:125660143..125662820,2	MCF-7	breast:
5	chr8:125648801..125651687-chr8:125651691..125654653,2	MCF-7	breast:
6	chr8:125654082..125656755-chr8:125691015..125693469,2	MCF-7	breast:
7	chr8:125651620..125655082-chr8:125825909..125828471,4	K562	blood:
8	chr8:125648425..125652159-chr8:125652603..125655556,5	K562	blood:
9	chr8:125653538..125655457-chr8:125699736..125702279,2	K562	blood:
10	chr8:125634912..125639122-chr8:125652761..125656973,4	K562	blood:
11	chr8:125646525..125649000-chr8:125654557..125656229,2	K562	blood:
12	chr8:125654495..125656872-chr8:125662279..125664875,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000255491	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10094360	0.85[AFR][1000 genomes]
rs10105407	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11777231	0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11778543	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11780949	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]
rs11785482	0.85[JPT][hapmap]
rs4007936	0.93[JPT][hapmap]
rs4311642	0.87[AFR][1000 genomes]
rs4870915	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];0.93[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4871524	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871525	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871527	0.93[JPT][hapmap]
rs56995505	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62530686	0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs62530688	0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62530689	0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62530690	0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs6981365	0.84[ASW][hapmap];0.88[LWK][hapmap];0.88[MKK][hapmap];0.88[AFR][1000 genomes]
rs6992199	1.00[CEU][hapmap];0.90[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7017138	0.94[ASW][hapmap];1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[LWK][hapmap];1.00[MEX][hapmap];0.85[MKK][hapmap];1.00[TSI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7827042	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7835359	0.89[MEX][hapmap]
rs7840832	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7843950	0.93[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

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4510845	MTSS1	cis	lymphoblastoid	seeQTL
rs4510845	ZNF491	trans	lymphoblastoid	RTeQTL

Chromatin state (count:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:125641200-125664200	Enhancers	Primary B cells from peripheral blood	blood
2	chr8:125643400-125656200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
3	chr8:125643800-125656000	Weak transcription	HMEC	breast
4	chr8:125643800-125666200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr8:125644400-125654600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr8:125645600-125661800	Enhancers	Fetal Thymus	thymus
7	chr8:125645800-125657600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr8:125646000-125656400	Enhancers	Primary B cells from cord blood	blood
9	chr8:125646400-125657600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr8:125646400-125657800	Enhancers	Primary T cells fromperipheralblood	blood
11	chr8:125646600-125656800	Enhancers	Primary hematopoietic stem cells	blood
12	chr8:125646600-125658000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
13	chr8:125646600-125658600	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr8:125646600-125659000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
15	chr8:125646800-125658000	Enhancers	Primary T helper cells PMA-I stimulated	--
16	chr8:125647000-125655400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr8:125647000-125657200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
18	chr8:125649600-125656200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr8:125649800-125660200	Weak transcription	Right Ventricle	heart
20	chr8:125649800-125662800	Weak transcription	Pancreas	Pancrea
21	chr8:125650000-125665200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:125650000-125665200	Weak transcription	Fetal Intestine Small	intestine
23	chr8:125650000-125666800	Weak transcription	Esophagus	oesophagus
24	chr8:125650200-125655400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr8:125650800-125656200	Weak transcription	HSMM	muscle
26	chr8:125650800-125660600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr8:125651000-125656400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr8:125651000-125660200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr8:125651400-125663400	Weak transcription	Placenta	Placenta
30	chr8:125651600-125654800	Weak transcription	Left Ventricle	heart
31	chr8:125652200-125655200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr8:125652200-125656200	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr8:125652200-125656200	Enhancers	Primary T killer memory cells from peripheral blood	blood
34	chr8:125652200-125657000	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr8:125652200-125657000	Enhancers	Brain Germinal Matrix	brain
36	chr8:125652200-125658200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr8:125652400-125654600	Enhancers	Dnd41	blood
38	chr8:125652400-125655000	Enhancers	K562	blood
39	chr8:125652400-125656200	Weak transcription	HUVEC	blood vessel
40	chr8:125652600-125657000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
41	chr8:125652800-125654800	Weak transcription	Fetal Muscle Trunk	muscle
42	chr8:125653200-125655000	Enhancers	Adipose Nuclei	Adipose
43	chr8:125653200-125655200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr8:125653200-125655200	Enhancers	Skeletal Muscle Male	skeletal muscle
45	chr8:125653200-125655600	Enhancers	Liver	Liver
46	chr8:125653200-125658400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr8:125653400-125655000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr8:125653400-125656600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr8:125653400-125657000	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr8:125653400-125657000	Enhancers	Fetal Brain Male	brain

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