Variant report

Variant	rs754418
Chromosome Location	chr11:68296166-68296167
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:67981478..67983630-chr11:68294229..68297212,2	MCF-7	breast:
2	chr11:68295776..68299439-chr11:68303411..68307238,4	MCF-7	breast:
3	chr11:68294569..68300884-chr11:68301250..68310355,12	K562	blood:
4	chr11:68295992..68298851-chr14:22471442..22473971,2	MCF-7	breast:
5	chr11:68294569..68297072-chr11:68302810..68305655,2	K562	blood:

Variant related genes	Relation type
ENSG00000110075	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs11824970	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11828144	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12280773	1.00[EUR][1000 genomes]
rs12280982	1.00[EUR][1000 genomes]
rs12285801	1.00[EUR][1000 genomes]
rs12294855	1.00[EUR][1000 genomes]
rs2017727	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs2155729	1.00[EUR][1000 genomes]
rs2513276	1.00[EUR][1000 genomes]
rs28369501	1.00[EUR][1000 genomes]
rs28670727	1.00[EUR][1000 genomes]
rs314747	1.00[EUR][1000 genomes]
rs34009811	1.00[AMR][1000 genomes]
rs3867142	1.00[EUR][1000 genomes]
rs495137	1.00[EUR][1000 genomes]
rs55748366	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55859249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55932241	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56014941	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56715418	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56748492	1.00[EUR][1000 genomes]
rs57488954	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57557564	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57669893	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59876914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60170908	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60487218	1.00[EUR][1000 genomes]
rs7120407	1.00[EUR][1000 genomes]
rs7121045	1.00[EUR][1000 genomes]
rs73511095	1.00[EUR][1000 genomes]
rs73513277	1.00[EUR][1000 genomes]
rs7936958	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7937163	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1036561	chr11:68123135-68315685	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
2	esv1792339	chr11:68199008-68299226	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	esv1803199	chr11:68199008-68299226	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	esv1842405	chr11:68199008-68299226	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	esv3431317	chr11:68282676-68411867	Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
6	esv3478641	chr11:68282679-68411856	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
7	esv3478652	chr11:68282679-68411856	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
8	esv3425206	chr11:68282708-68411817	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
9	esv3511614	chr11:68282726-68411806	Weak transcription Strong transcription Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
10	esv3511615	chr11:68282726-68411806	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
11	esv3348204	chr11:68282891-68411839	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
12	nsv832195	chr11:68286383-68474611	Strong transcription Weak transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68265200-68302600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr11:68268600-68303800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr11:68276000-68305600	Weak transcription	Fetal Brain Male	brain
4	chr11:68276600-68304000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr11:68277600-68336000	Strong transcription	Dnd41	blood
6	chr11:68283000-68358200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr11:68284200-68297600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:68286200-68300200	Strong transcription	Hela-S3	cervix
9	chr11:68286400-68296400	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:68286400-68303200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:68286600-68296400	Strong transcription	HSMM	muscle
12	chr11:68286600-68296600	Strong transcription	HUES48 Cell Line	embryonic stem cell
13	chr11:68286800-68296600	Strong transcription	Liver	Liver
14	chr11:68286800-68297400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
15	chr11:68287000-68296800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr11:68287000-68297400	Strong transcription	Osteobl	bone
17	chr11:68287000-68299200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
18	chr11:68287200-68296600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr11:68287200-68297200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr11:68287200-68298200	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:68287200-68301200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr11:68288000-68296600	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr11:68288600-68309000	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr11:68289000-68296600	Genic enhancers	Fetal Intestine Large	intestine
25	chr11:68290200-68296800	Strong transcription	Thymus	Thymus
26	chr11:68291000-68297000	Genic enhancers	Fetal Intestine Small	intestine
27	chr11:68291000-68297800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
28	chr11:68292000-68296600	Strong transcription	Muscle Satellite Cultured Cells	--
29	chr11:68292000-68296800	Strong transcription	Fetal Lung	lung
30	chr11:68292200-68296200	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr11:68292400-68297600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:68292600-68296600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:68292600-68296600	Strong transcription	Fetal Muscle Trunk	muscle
34	chr11:68292600-68296600	Strong transcription	Fetal Muscle Leg	muscle
35	chr11:68292600-68296600	Strong transcription	Placenta	Placenta
36	chr11:68292600-68301400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr11:68292600-68308200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:68293000-68296600	Strong transcription	H1 Cell Line	embryonic stem cell
39	chr11:68293200-68297600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:68293200-68302200	Weak transcription	Brain Substantia Nigra	brain
41	chr11:68293400-68296600	Genic enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr11:68293400-68298200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr11:68293600-68296200	Strong transcription	Duodenum Mucosa	Duodenum
44	chr11:68293600-68296600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr11:68293600-68297000	Strong transcription	Fetal Stomach	stomach
46	chr11:68293600-68297400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr11:68293600-68299800	Strong transcription	NHEK	skin
48	chr11:68293600-68300000	Strong transcription	A549	lung
49	chr11:68293800-68296600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:68293800-68296600	Genic enhancers	Left Ventricle	heart

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