Variant report

Variant	rs312780
Chromosome Location	chr11:68110095-68110096
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:29)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:29 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:68107593..68111498-chr11:68113363..68117300,5	MCF-7	breast:
2	chr11:68108472..68110362-chr11:68136647..68138790,2	MCF-7	breast:
3	chr11:67979856..67982977-chr11:68108129..68111573,4	MCF-7	breast:
4	chr11:68037006..68040956-chr11:68105916..68111491,8	MCF-7	breast:
5	chr11:68109538..68111158-chr11:68130465..68132947,2	MCF-7	breast:
6	chr11:68108795..68110881-chr11:68215051..68217783,2	MCF-7	breast:
7	chr11:68109259..68111548-chr11:68154711..68157700,2	MCF-7	breast:
8	chr11:68077886..68089318-chr11:68104706..68113920,31	MCF-7	breast:
9	chr11:68025115..68027304-chr11:68108565..68110320,2	MCF-7	breast:
10	chr11:68096680..68098749-chr11:68108536..68110352,2	MCF-7	breast:
11	chr11:67780680..67782871-chr11:68109088..68111922,2	MCF-7	breast:
12	chr11:68108529..68112071-chr11:68120195..68123404,7	MCF-7	breast:
13	chr11:68107714..68112282-chr11:68118336..68124263,11	MCF-7	breast:
14	chr11:68091250..68093878-chr11:68108780..68112476,4	MCF-7	breast:
15	chr11:68108931..68115142-chr11:68135401..68140500,11	MCF-7	breast:
16	chr11:68109697..68112007-chr20:45988104..45990049,2	MCF-7	breast:
17	chr11:67796621..67799492-chr11:68108648..68110244,2	MCF-7	breast:
18	chr11:68082830..68084506-chr11:68108274..68111199,2	K562	blood:
19	chr11:68108535..68111680-chr11:68129129..68132364,4	MCF-7	breast:
20	chr11:67980659..67983724-chr11:68104991..68110188,4	MCF-7	breast:
21	chr11:68108715..68111616-chr2:24306427..24308055,2	MCF-7	breast:
22	chr11:68086498..68089245-chr11:68109223..68111259,2	MCF-7	breast:
23	chr11:68108161..68113775-chr11:68145002..68152027,11	MCF-7	breast:
24	chr11:68109553..68111761-chr11:68141743..68145127,3	MCF-7	breast:
25	chr11:67979897..67981504-chr11:68108940..68111008,2	K562	blood:
26	chr11:68106405..68113140-chr11:68145593..68153963,20	MCF-7	breast:
27	chr11:66824004..66825527-chr11:68109189..68110811,2	MCF-7	breast:
28	chr11:68078044..68085563-chr11:68107392..68113786,23	MCF-7	breast:
29	chr11:68107929..68111362-chr11:68116810..68118643,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000006534	Chromatin interaction
ENSG00000115129	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000255306	Chromatin interaction
ENSG00000110066	Chromatin interaction
ENSG00000110717	Chromatin interaction
ENSG00000162337	Chromatin interaction
ENSG00000171067	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs160517	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs160607	0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs178352	0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs312778	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs312779	0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs312782	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs312783	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs312784	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs312785	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs312788	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs312790	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs312791	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs312792	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs314761	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs314775	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs314776	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs587808	0.81[AMR][1000 genomes]
rs643892	0.81[AMR][1000 genomes]
rs643981	0.98[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs659605	0.81[AMR][1000 genomes]
rs671191	0.81[AMR][1000 genomes]
rs74744	1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs91285	0.82[AFR][1000 genomes];0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][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:99 , 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	chr11:68102600-68110800	Enhancers	Left Ventricle	heart
4	chr11:68103000-68111000	Enhancers	Adipose Nuclei	Adipose
5	chr11:68104600-68110400	Enhancers	Skeletal Muscle Male	skeletal muscle
6	chr11:68104600-68119600	Enhancers	Liver	Liver
7	chr11:68105200-68110200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:68105400-68111000	Enhancers	Fetal Muscle Leg	muscle
9	chr11:68105600-68113000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr11:68106000-68110200	Weak transcription	Fetal Brain Female	brain
11	chr11:68106200-68113600	Weak transcription	Spleen	Spleen
12	chr11:68106200-68121800	Weak transcription	Psoas Muscle	Psoas
13	chr11:68106400-68110200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:68107600-68111400	Enhancers	Lung	lung
15	chr11:68107800-68110400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr11:68107800-68110600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr11:68107800-68110600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr11:68107800-68110800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:68107800-68110800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:68107800-68110800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:68107800-68110800	Enhancers	Muscle Satellite Cultured Cells	--
22	chr11:68107800-68110800	Enhancers	Fetal Muscle Trunk	muscle
23	chr11:68107800-68110800	Enhancers	NH-A	brain
24	chr11:68107800-68111000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr11:68107800-68111200	Enhancers	Fetal Lung	lung
26	chr11:68107800-68111200	Enhancers	Gastric	stomach
27	chr11:68107800-68111400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:68107800-68111600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:68107800-68111600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
30	chr11:68107800-68111600	Enhancers	Pancreas	Pancrea
31	chr11:68107800-68111800	Enhancers	H1 Cell Line	embryonic stem cell
32	chr11:68107800-68112000	Enhancers	Stomach Mucosa	stomach
33	chr11:68107800-68112600	Enhancers	Fetal Intestine Large	intestine
34	chr11:68107800-68115000	Genic enhancers	Fetal Intestine Small	intestine
35	chr11:68108000-68110800	Enhancers	HUES64 Cell Line	embryonic stem cell
36	chr11:68108000-68111000	Enhancers	Brain Germinal Matrix	brain
37	chr11:68108000-68111200	Enhancers	Duodenum Mucosa	Duodenum
38	chr11:68108000-68111200	Enhancers	HSMM	muscle
39	chr11:68108000-68111600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr11:68108000-68111600	Enhancers	Fetal Heart	heart
41	chr11:68108000-68111600	Enhancers	Right Ventricle	heart
42	chr11:68108000-68115000	Weak transcription	Dnd41	blood
43	chr11:68108200-68110800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr11:68108200-68111000	Weak transcription	Primary B cells from peripheral blood	blood
45	chr11:68108200-68111000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr11:68108400-68111600	Enhancers	Duodenum Smooth Muscle	Duodenum
47	chr11:68108400-68112200	Enhancers	Rectal Mucosa Donor 29	rectum
48	chr11:68108600-68110200	Enhancers	Ovary	ovary
49	chr11:68108600-68111000	Enhancers	HUES6 Cell Line	embryonic stem cell
50	chr11:68108600-68111000	Enhancers	iPS-18 Cell Line	embryonic stem cell

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