Variant report

Variant	rs12280773
Chromosome Location	chr11:68111203-68111204
allele	C/T
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:23)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:23 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:68110633..68112751-chr11:68113454..68115188,4	K562	blood:
2	chr11:68110523..68112726-chr11:68173097..68174983,2	MCF-7	breast:
3	chr11:68107593..68111498-chr11:68113363..68117300,5	MCF-7	breast:
4	chr11:67979856..67982977-chr11:68108129..68111573,4	MCF-7	breast:
5	chr11:68037006..68040956-chr11:68105916..68111491,8	MCF-7	breast:
6	chr11:68109259..68111548-chr11:68154711..68157700,2	MCF-7	breast:
7	chr11:68077886..68089318-chr11:68104706..68113920,31	MCF-7	breast:
8	chr11:67780680..67782871-chr11:68109088..68111922,2	MCF-7	breast:
9	chr11:68108529..68112071-chr11:68120195..68123404,7	MCF-7	breast:
10	chr11:68107714..68112282-chr11:68118336..68124263,11	MCF-7	breast:
11	chr11:68091250..68093878-chr11:68108780..68112476,4	MCF-7	breast:
12	chr11:68108931..68115142-chr11:68135401..68140500,11	MCF-7	breast:
13	chr11:68109697..68112007-chr20:45988104..45990049,2	MCF-7	breast:
14	chr11:68108535..68111680-chr11:68129129..68132364,4	MCF-7	breast:
15	chr11:68036380..68038831-chr11:68110489..68113150,2	MCF-7	breast:
16	chr11:68108715..68111616-chr2:24306427..24308055,2	MCF-7	breast:
17	chr11:68086498..68089245-chr11:68109223..68111259,2	MCF-7	breast:
18	chr11:68108161..68113775-chr11:68145002..68152027,11	MCF-7	breast:
19	chr11:68109553..68111761-chr11:68141743..68145127,3	MCF-7	breast:
20	chr11:68106405..68113140-chr11:68145593..68153963,20	MCF-7	breast:
21	chr11:68078044..68085563-chr11:68107392..68113786,23	MCF-7	breast:
22	chr11:68110116..68112181-chr11:68139124..68141011,2	MCF-7	breast:
23	chr11:68107929..68111362-chr11:68116810..68118643,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162337	Chromatin interaction
ENSG00000110066	Chromatin interaction
ENSG00000006534	Chromatin interaction
ENSG00000171067	Chromatin interaction
ENSG00000115129	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11228195	1.00[EUR][1000 genomes]
rs12273064	1.00[EUR][1000 genomes]
rs12276515	1.00[EUR][1000 genomes]
rs12280982	1.00[EUR][1000 genomes]
rs12282027	1.00[EUR][1000 genomes]
rs12285801	1.00[EUR][1000 genomes]
rs12294855	1.00[EUR][1000 genomes]
rs2017727	1.00[EUR][1000 genomes]
rs2155729	1.00[EUR][1000 genomes]
rs28369501	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28670727	0.84[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs314747	1.00[EUR][1000 genomes]
rs3867142	1.00[EUR][1000 genomes]
rs495137	1.00[EUR][1000 genomes]
rs57557564	1.00[EUR][1000 genomes]
rs57669893	1.00[EUR][1000 genomes]
rs58001317	1.00[ASN][1000 genomes]
rs59876914	1.00[EUR][1000 genomes]
rs60240146	1.00[ASN][1000 genomes]
rs60487218	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs656583	1.00[ASN][1000 genomes]
rs7120407	1.00[EUR][1000 genomes]
rs7121045	1.00[EUR][1000 genomes]
rs754418	1.00[EUR][1000 genomes]
rs7937163	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv825963	chr11:67763676-68197054	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:68096600-68126000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
2	chr11:68098400-68115000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr11:68104600-68119600	Enhancers	Liver	Liver
4	chr11:68105600-68113000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr11:68106200-68113600	Weak transcription	Spleen	Spleen
6	chr11:68106200-68121800	Weak transcription	Psoas Muscle	Psoas
7	chr11:68107600-68111400	Enhancers	Lung	lung
8	chr11:68107800-68111400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr11:68107800-68111600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr11:68107800-68111600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
11	chr11:68107800-68111600	Enhancers	Pancreas	Pancrea
12	chr11:68107800-68111800	Enhancers	H1 Cell Line	embryonic stem cell
13	chr11:68107800-68112000	Enhancers	Stomach Mucosa	stomach
14	chr11:68107800-68112600	Enhancers	Fetal Intestine Large	intestine
15	chr11:68107800-68115000	Genic enhancers	Fetal Intestine Small	intestine
16	chr11:68108000-68111600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr11:68108000-68111600	Enhancers	Fetal Heart	heart
18	chr11:68108000-68111600	Enhancers	Right Ventricle	heart
19	chr11:68108000-68115000	Weak transcription	Dnd41	blood
20	chr11:68108400-68111600	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr11:68108400-68112200	Enhancers	Rectal Mucosa Donor 29	rectum
22	chr11:68108600-68111800	Enhancers	Esophagus	oesophagus
23	chr11:68108600-68115000	Enhancers	Placenta	Placenta
24	chr11:68108600-68121800	Weak transcription	HUVEC	blood vessel
25	chr11:68108800-68111600	Enhancers	Colonic Mucosa	Colon
26	chr11:68108800-68111800	Enhancers	Rectal Smooth Muscle	rectum
27	chr11:68108800-68112200	Enhancers	Placenta Amnion	Placenta Amnion
28	chr11:68109000-68112000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr11:68109000-68112400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr11:68109000-68113800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr11:68109000-68115600	Weak transcription	Primary T cells from cord blood	blood
32	chr11:68109000-68117000	Weak transcription	Thymus	Thymus
33	chr11:68109200-68113600	Weak transcription	Skeletal Muscle Female	skeletal muscle
34	chr11:68109200-68119800	Weak transcription	Hela-S3	cervix
35	chr11:68109400-68111400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
36	chr11:68109600-68111600	Enhancers	Sigmoid Colon	Sigmoid Colon
37	chr11:68109600-68113000	Weak transcription	Fetal Brain Male	brain
38	chr11:68109600-68113600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:68110200-68111800	Enhancers	HMEC	breast
40	chr11:68110200-68113000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr11:68110200-68113600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr11:68110200-68118200	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr11:68110400-68111600	Enhancers	Right Atrium	heart
44	chr11:68110400-68111800	Enhancers	A549	lung
45	chr11:68110400-68112200	Enhancers	K562	blood
46	chr11:68110400-68113000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
47	chr11:68110400-68113000	Weak transcription	Fetal Brain Female	brain
48	chr11:68110400-68113600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr11:68110600-68111800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:68110600-68113000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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