Variant report

Variant	rs11065091
Chromosome Location	chr12:120790937-120790938
allele	C/G
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:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120788709..120791649-chr12:120797863..120800700,2	K562	blood:
2	chr12:120727179..120731259-chr12:120787401..120790968,5	MCF-7	breast:
3	chr12:120786778..120788391-chr12:120790121..120792012,2	K562	blood:
4	chr12:120789868..120791649-chr12:120797838..120799363,2	K562	blood:
5	chr12:120631106..120634321-chr12:120788330..120790949,3	MCF-7	breast:
6	chr12:120790519..120792838-chr12:120882308..120885189,2	MCF-7	breast:
7	chr12:120780232..120784362-chr12:120789463..120792273,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000257218	Chromatin interaction
ENSG00000200795	Chromatin interaction
ENSG00000170855	Chromatin interaction
ENSG00000135097	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000089154	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10849743	0.85[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11065075	0.85[EUR][1000 genomes]
rs11065094	0.94[EUR][1000 genomes]
rs11614028	0.87[EUR][1000 genomes]
rs1179387	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1557769	1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs206951	0.91[EUR][1000 genomes]
rs206966	0.83[EUR][1000 genomes]
rs2522129	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2522138	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2522141	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2696027	0.80[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3742038	0.95[EUR][1000 genomes]
rs5637	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67706074	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7314115	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73416934	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899555	chr12:120519124-120840522	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	499 gene(s)	inside rSNPs	diseases
2	nsv1047447	chr12:120645330-120808621	Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Enhancers Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	436 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120764000-120799200	Weak transcription	Right Atrium	heart
2	chr12:120776000-120793200	Weak transcription	Fetal Brain Male	brain
3	chr12:120778600-120794600	Weak transcription	Brain Anterior Caudate	brain
4	chr12:120779200-120794600	Strong transcription	Cortex derived primary cultured neurospheres	brain
5	chr12:120779400-120796800	Strong transcription	Brain Germinal Matrix	brain
6	chr12:120779600-120799000	Weak transcription	Fetal Heart	heart
7	chr12:120779800-120794600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr12:120779800-120797400	Strong transcription	Fetal Brain Female	brain
9	chr12:120779800-120798800	Strong transcription	Fetal Intestine Small	intestine
10	chr12:120780200-120794600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr12:120780400-120797600	Strong transcription	Fetal Stomach	stomach
12	chr12:120780800-120792200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr12:120780800-120803200	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr12:120781000-120794200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr12:120781000-120794600	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:120781000-120794600	Weak transcription	Brain Hippocampus Middle	brain
17	chr12:120781000-120796000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr12:120781000-120796200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr12:120781000-120796800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr12:120781200-120794600	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:120781200-120796000	Strong transcription	H1 Cell Line	embryonic stem cell
22	chr12:120781200-120796600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:120781200-120796800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
24	chr12:120781400-120796600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr12:120781600-120794600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:120781800-120794600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chr12:120781800-120794600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr12:120783400-120794600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr12:120783600-120794600	Weak transcription	Brain Angular Gyrus	brain
30	chr12:120783800-120794200	Weak transcription	Brain Substantia Nigra	brain
31	chr12:120783800-120799000	Weak transcription	Duodenum Smooth Muscle	Duodenum
32	chr12:120784800-120800400	Weak transcription	Rectal Mucosa Donor 29	rectum
33	chr12:120785800-120794400	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr12:120786000-120793600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr12:120786000-120796200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr12:120786200-120796000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr12:120787200-120796200	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr12:120787400-120792800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr12:120787800-120791600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:120788400-120794600	Weak transcription	Gastric	stomach
41	chr12:120788400-120794600	Weak transcription	Stomach Smooth Muscle	stomach
42	chr12:120788600-120794400	Weak transcription	Spleen	Spleen
43	chr12:120789000-120794600	Weak transcription	Brain Cingulate Gyrus	brain
44	chr12:120789400-120793200	Weak transcription	Duodenum Mucosa	Duodenum
45	chr12:120789400-120794600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr12:120789400-120799000	Weak transcription	Pancreas	Pancrea
47	chr12:120789400-120799000	Weak transcription	Stomach Mucosa	stomach
48	chr12:120789400-120799200	Weak transcription	Right Ventricle	heart
49	chr12:120789400-120802000	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:120790000-120791800	Strong transcription	Fetal Muscle Leg	muscle

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