Variant report

Variant	rs609131
Chromosome Location	chr11:75303439-75303440
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:75301994..75305996-chr11:75306128..75308913,4	MCF-7	breast:
2	chr11:75290774..75292517-chr11:75302015..75303916,2	K562	blood:
3	chr11:75302403..75305130-chr11:75308295..75310796,2	K562	blood:
4	chr11:75258692..75259236-chr11:75303363..75304268,2	MCF-7	breast:
5	chr11:75272932..75274966-chr11:75302540..75305496,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000255434	Chromatin interaction
ENSG00000149257	Chromatin interaction
ENSG00000171533	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1793395	0.81[JPT][hapmap]
rs2015782	0.81[CEU][hapmap];0.93[CHB][hapmap]
rs2511005	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs544997	0.85[CEU][hapmap];1.00[CHB][hapmap];0.87[JPT][hapmap];0.84[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs581522	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs584046	0.93[CHB][hapmap];0.81[JPT][hapmap];0.81[EUR][1000 genomes]
rs585433	0.85[JPT][hapmap]
rs588955	0.85[JPT][hapmap]
rs589063	0.85[JPT][hapmap]
rs599816	0.85[JPT][hapmap]
rs601142	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs601293	0.94[CHB][hapmap];0.81[JPT][hapmap];0.80[EUR][1000 genomes]
rs611221	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs617449	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs629176	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs636418	0.86[JPT][hapmap]
rs640277	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs642002	0.95[CEU][hapmap];1.00[CHB][hapmap];0.93[JPT][hapmap];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs644388	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs648930	0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs652524	0.91[CEU][hapmap];1.00[CHB][hapmap];0.84[JPT][hapmap];0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs664133	0.93[CHB][hapmap];0.81[JPT][hapmap]
rs678320	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs678874	0.83[CEU][hapmap];0.80[AMR][1000 genomes];0.94[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs683195	0.93[CHB][hapmap]
rs684644	0.94[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:1 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3381903	chr11:75123498-75587233	Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs609131	CTD-2530H12.4	cis	Artery Tibial	GTEx

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:75295400-75329600	Weak transcription	Aorta	Aorta
2	chr11:75295600-75303800	Weak transcription	Brain Angular Gyrus	brain
3	chr11:75295600-75304000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr11:75295600-75310800	Weak transcription	Right Atrium	heart
5	chr11:75295600-75314200	Weak transcription	Lung	lung
6	chr11:75295800-75316400	Weak transcription	Stomach Smooth Muscle	stomach
7	chr11:75296000-75304000	Weak transcription	Brain Substantia Nigra	brain
8	chr11:75296200-75304200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr11:75296600-75305800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr11:75296600-75321000	Weak transcription	Ovary	ovary
11	chr11:75297000-75305200	Weak transcription	Spleen	Spleen
12	chr11:75297800-75303600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr11:75299000-75304000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
14	chr11:75299000-75304600	Weak transcription	Fetal Brain Female	brain
15	chr11:75299600-75304400	Weak transcription	Brain Germinal Matrix	brain
16	chr11:75299800-75303800	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr11:75300400-75304000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:75300600-75303600	Weak transcription	Fetal Intestine Small	intestine
19	chr11:75300600-75303800	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:75301600-75304000	Weak transcription	Fetal Stomach	stomach
21	chr11:75301600-75313800	Weak transcription	Fetal Lung	lung
22	chr11:75302200-75305400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr11:75302200-75306800	Enhancers	Fetal Muscle Leg	muscle
24	chr11:75302400-75304800	Enhancers	HSMM	muscle
25	chr11:75302400-75305000	Enhancers	Pancreas	Pancrea
26	chr11:75302400-75305200	Enhancers	HSMMtube	muscle
27	chr11:75302600-75304200	Enhancers	Primary T cells fromperipheralblood	blood
28	chr11:75302800-75312600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr11:75303000-75303600	Enhancers	Fetal Thymus	thymus
30	chr11:75303000-75303800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr11:75303200-75303800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr11:75303200-75304000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:75303200-75304000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
34	chr11:75303200-75304200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr11:75303200-75305400	Enhancers	Fetal Intestine Large	intestine
36	chr11:75303400-75303800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr11:75303400-75304000	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr11:75303400-75304000	Weak transcription	Fetal Muscle Trunk	muscle
39	chr11:75303400-75304400	Enhancers	HUVEC	blood vessel
40	chr11:75303400-75304600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:75303400-75304800	Enhancers	Fetal Heart	heart
42	chr11:75303400-75305000	Weak transcription	K562	blood

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