Variant report

Variant	rs7121045
Chromosome Location	chr11:68208525-68208526
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:68204961..68210848-chr11:68212670..68216087,6	K562	blood:
2	chr11:67980477..67985206-chr11:68208162..68213238,5	MCF-7	breast:
3	chr11:68206590..68210286-chr11:68212679..68215708,3	K562	blood:

Variant related genes	Relation type
ENSG00000162337	Chromatin interaction
ENSG00000110066	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11228195	1.00[EUR][1000 genomes]
rs11824970	1.00[EUR][1000 genomes]
rs11828144	1.00[EUR][1000 genomes]
rs12273064	1.00[EUR][1000 genomes]
rs12276515	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	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2155729	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28369501	1.00[EUR][1000 genomes]
rs28670727	1.00[EUR][1000 genomes]
rs314747	1.00[EUR][1000 genomes]
rs3867142	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs495137	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs55859249	1.00[EUR][1000 genomes]
rs55932241	1.00[EUR][1000 genomes]
rs56014941	1.00[EUR][1000 genomes]
rs56715418	1.00[EUR][1000 genomes]
rs57488954	1.00[EUR][1000 genomes]
rs57557564	1.00[EUR][1000 genomes]
rs57669893	1.00[EUR][1000 genomes]
rs59876914	1.00[EUR][1000 genomes]
rs60170908	1.00[EUR][1000 genomes]
rs60487218	1.00[EUR][1000 genomes]
rs7120407	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73511095	1.00[EUR][1000 genomes]
rs754418	1.00[EUR][1000 genomes]
rs7936958	1.00[EUR][1000 genomes]
rs7937163	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3347272	chr11:67969427-68218997	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
2	nsv897857	chr11:68056770-68231240	Enhancers Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
3	nsv897858	chr11:68077238-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
4	nsv897859	chr11:68102000-68231240	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv897860	chr11:68102000-68293545	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
6	nsv1047532	chr11:68103330-68239242	Weak transcription Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv541082	chr11:68103330-68239242	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	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
9	nsv897862	chr11:68129606-68236389	Strong transcription Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
10	nsv469965	chr11:68140781-68217420	Weak transcription Strong transcription Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv555285	chr11:68144283-68231240	Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
12	nsv468618	chr11:68171013-68231240	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
13	nsv897863	chr11:68186392-68251460	Enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
14	nsv520841	chr11:68199008-68217420	Weak transcription Bivalent Enhancer Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
15	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
16	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
17	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
18	nsv526402	chr11:68201295-68217420	Strong transcription Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68176000-68210400	Strong transcription	HepG2	liver
2	chr11:68182800-68222200	Weak transcription	Small Intestine	intestine
3	chr11:68197400-68208800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr11:68197400-68210600	Strong transcription	Dnd41	blood
5	chr11:68197400-68214400	Strong transcription	Fetal Intestine Small	intestine
6	chr11:68197400-68214600	Weak transcription	Brain Inferior Temporal Lobe	brain
7	chr11:68197400-68214800	Weak transcription	Brain Cingulate Gyrus	brain
8	chr11:68197400-68216400	Strong transcription	Rectal Mucosa Donor 29	rectum
9	chr11:68197400-68217800	Strong transcription	Liver	Liver
10	chr11:68197600-68210800	Strong transcription	Brain Germinal Matrix	brain
11	chr11:68197600-68217800	Strong transcription	Fetal Intestine Large	intestine
12	chr11:68197600-68227000	Weak transcription	Brain Hippocampus Middle	brain
13	chr11:68197800-68208800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr11:68198200-68209600	Strong transcription	Esophagus	oesophagus
15	chr11:68198200-68210600	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:68198400-68208800	Weak transcription	GM12878-XiMat	blood
17	chr11:68198600-68209200	Strong transcription	Rectal Mucosa Donor 31	rectum
18	chr11:68198600-68209400	Weak transcription	Brain Angular Gyrus	brain
19	chr11:68198600-68215000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr11:68198800-68227000	Weak transcription	Brain Anterior Caudate	brain
21	chr11:68199600-68210600	Strong transcription	Colonic Mucosa	Colon
22	chr11:68200600-68210200	Strong transcription	Primary T cells from cord blood	blood
23	chr11:68201000-68227400	Weak transcription	Fetal Brain Male	brain
24	chr11:68201600-68209400	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr11:68201600-68218800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr11:68203800-68209200	Genic enhancers	Fetal Muscle Trunk	muscle
27	chr11:68204000-68209200	Genic enhancers	Fetal Muscle Leg	muscle
28	chr11:68205000-68210600	Strong transcription	Gastric	stomach
29	chr11:68205200-68209000	Weak transcription	NHLF	lung
30	chr11:68205200-68210200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr11:68205200-68210800	Strong transcription	Duodenum Mucosa	Duodenum
32	chr11:68205400-68209000	Weak transcription	NH-A	brain
33	chr11:68205400-68210600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:68205400-68210600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr11:68205400-68210600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:68205400-68210800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr11:68205400-68218000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr11:68205600-68215200	Weak transcription	K562	blood
39	chr11:68205600-68215400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr11:68205800-68208600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:68205800-68212000	Weak transcription	HUVEC	blood vessel
42	chr11:68205800-68215800	Weak transcription	HMEC	breast
43	chr11:68206000-68210600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:68206000-68210600	Strong transcription	Left Ventricle	heart
45	chr11:68206000-68214600	Strong transcription	Lung	lung
46	chr11:68206200-68210000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr11:68206400-68209200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr11:68206400-68210000	Genic enhancers	Fetal Stomach	stomach
49	chr11:68206600-68208800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:68206600-68208800	Weak transcription	Osteobl	bone

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