Variant report

Variant	rs6592528
Chromosome Location	chr11:73377350-73377351
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:73377262-73377563	HepG2	liver:	n/a	n/a
2	POLR2A	chr11:73377309-73377436	HepG2	liver:	n/a	n/a
3	POLR2A	chr11:73375579-73377582	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:73112653..73117037-chr11:73375086..73378284,4	MCF-7	breast:
2	chr11:73370621..73373782-chr11:73375391..73378489,3	K562	blood:
3	chr11:73371041..73372952-chr11:73376507..73379068,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000252732	TF binding region
ENSG00000021300	Chromatin interaction
ENSG00000256448	Chromatin interaction

Extended variants
information (count: 48 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1525750	1.00[CEU][hapmap];0.88[YRI][hapmap];0.81[EUR][1000 genomes]
rs1525751	0.81[EUR][1000 genomes]
rs1723834	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1723838	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1723839	0.81[EUR][1000 genomes]
rs1723842	0.81[EUR][1000 genomes]
rs1723844	0.88[CEU][hapmap];0.88[TSI][hapmap];0.81[EUR][1000 genomes]
rs1723845	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1723846	0.88[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap]
rs1723849	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.85[EUR][1000 genomes]
rs17310409	0.86[CEU][hapmap]
rs1792157	0.88[CEU][hapmap]
rs1792164	0.87[CEU][hapmap]
rs1792195	0.85[EUR][1000 genomes]
rs1792196	0.85[EUR][1000 genomes]
rs1880642	0.89[EUR][1000 genomes]
rs1880643	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs2008722	0.87[CEU][hapmap];1.00[GIH][hapmap];0.83[TSI][hapmap]
rs2037706	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.94[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2037709	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2056649	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs2366944	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2511263	0.81[EUR][1000 genomes]
rs2511265	0.81[EUR][1000 genomes]
rs2515091	0.85[CEU][hapmap]
rs4944026	1.00[CEU][hapmap];0.83[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4944027	0.89[EUR][1000 genomes]
rs4944030	0.89[EUR][1000 genomes]
rs4944854	1.00[CEU][hapmap];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4944857	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4944859	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.85[EUR][1000 genomes]
rs4944860	1.00[CEU][hapmap];0.89[YRI][hapmap];0.81[AFR][1000 genomes];0.85[EUR][1000 genomes]
rs4944864	0.83[EUR][1000 genomes]
rs4944865	1.00[CEU][hapmap];1.00[GIH][hapmap];0.96[TSI][hapmap];0.83[EUR][1000 genomes]
rs6592529	1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[TSI][hapmap];0.89[EUR][1000 genomes]
rs7101957	0.85[ASW][hapmap];0.81[TSI][hapmap]
rs7108695	1.00[CEU][hapmap]
rs7396121	0.89[EUR][1000 genomes]
rs7932364	0.87[CEU][hapmap]
rs7942515	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs940831	1.00[CEU][hapmap];0.93[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs9634024	1.00[CEU][hapmap];0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3395161	chr11:73084616-73461577	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv530624	chr11:73114283-73646329	Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv492091	chr11:73285970-73844424	Weak transcription Strong transcription Flanking Active TSS Genic enhancers Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
4	nsv1045149	chr11:73314565-73581908	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
5	nsv530641	chr11:73358393-73638725	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv521125	chr11:73359236-73378142	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:73363800-73385400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr11:73372400-73388200	Weak transcription	HSMMtube	muscle
3	chr11:73372400-73395400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr11:73372600-73383000	Weak transcription	Cortex derived primary cultured neurospheres	brain
5	chr11:73372600-73384800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr11:73372600-73385200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr11:73372600-73385200	Weak transcription	Muscle Satellite Cultured Cells	--
8	chr11:73372600-73385200	Weak transcription	Liver	Liver
9	chr11:73372600-73385200	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr11:73372600-73385400	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr11:73372600-73385600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr11:73372600-73388200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr11:73372600-73388200	Weak transcription	Duodenum Mucosa	Duodenum
14	chr11:73372600-73388400	Weak transcription	Dnd41	blood
15	chr11:73372600-73394800	Weak transcription	Brain Germinal Matrix	brain
16	chr11:73372800-73381200	Weak transcription	Fetal Stomach	stomach
17	chr11:73372800-73382000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr11:73372800-73382600	Weak transcription	Colon Smooth Muscle	Colon
19	chr11:73372800-73382800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr11:73372800-73385000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr11:73372800-73385200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr11:73372800-73385400	Weak transcription	Fetal Intestine Large	intestine
23	chr11:73372800-73388400	Weak transcription	NHLF	lung
24	chr11:73372800-73390600	Weak transcription	HUVEC	blood vessel
25	chr11:73373400-73388200	Weak transcription	Fetal Thymus	thymus
26	chr11:73374200-73379000	Weak transcription	K562	blood
27	chr11:73374200-73385400	Weak transcription	Osteobl	bone
28	chr11:73374200-73391800	Weak transcription	Hela-S3	cervix
29	chr11:73374400-73427200	Weak transcription	A549	lung
30	chr11:73374800-73388800	Weak transcription	GM12878-XiMat	blood
31	chr11:73375200-73385000	Weak transcription	Stomach Smooth Muscle	stomach
32	chr11:73375200-73385200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr11:73375200-73385200	Weak transcription	Thymus	Thymus
34	chr11:73375200-73385400	Weak transcription	Fetal Intestine Small	intestine
35	chr11:73375200-73387800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr11:73375200-73388400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
37	chr11:73375200-73388400	Weak transcription	Fetal Lung	lung
38	chr11:73375200-73388800	Weak transcription	Brain Hippocampus Middle	brain
39	chr11:73375200-73404400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr11:73375400-73384800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:73375400-73385200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr11:73375400-73385200	Weak transcription	Aorta	Aorta
43	chr11:73375400-73385600	Weak transcription	Primary T cells from cord blood	blood
44	chr11:73375400-73387600	Weak transcription	Primary T helper cells fromperipheralblood	blood
45	chr11:73375400-73387800	Weak transcription	Primary neutrophils fromperipheralblood	blood
46	chr11:73375400-73387800	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr11:73375400-73387800	Weak transcription	Fetal Muscle Leg	muscle
48	chr11:73375400-73388200	Weak transcription	Primary T cells fromperipheralblood	blood
49	chr11:73375400-73388200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
50	chr11:73375400-73388200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood

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