Variant report

Variant	rs11065029
Chromosome Location	chr12:120562990-120562991
allele	A/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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr12:120559913..120564774-chr12:120629381..120633870,5	MCF-7	breast:
2	chr12:120561828..120564704-chr12:120575956..120578442,3	K562	blood:
3	chr12:120562748..120564504-chr12:120728665..120731245,2	K562	blood:
4	chr12:120562076..120563996-chr12:120632946..120634674,2	K562	blood:
5	chr12:120561925..120563648-chr12:120667739..120670072,2	K562	blood:
6	chr12:120560646..120564537-chr12:120726297..120728813,4	MCF-7	breast:
7	chr12:120561767..120563673-chr12:120616678..120618274,2	K562	blood:
8	chr12:120561796..120564590-chr12:120575330..120577438,3	K562	blood:
9	chr12:120561375..120563129-chr12:120636617..120639172,3	K562	blood:
10	chr12:120560112..120563743-chr12:120637060..120640117,5	MCF-7	breast:
11	chr12:120561896..120563568-chr12:120631204..120633037,2	MCF-7	breast:
12	chr12:120562054..120563752-chr12:120583178..120584938,2	K562	blood:
13	chr12:120561904..120564526-chr12:120630597..120632939,2	K562	blood:
14	chr12:120561187..120563003-chr12:120608631..120611553,2	MCF-7	breast:
15	chr12:120562224..120563971-chr12:120592697..120595294,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000263913	Chromatin interaction
ENSG00000266704	Chromatin interaction
ENSG00000089154	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000255857	Chromatin interaction
ENSG00000089157	Chromatin interaction
ENSG00000200795	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11065033	0.90[AFR][1000 genomes]
rs12297328	0.90[AFR][1000 genomes]
rs7957942	0.95[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3525916	chr12:120345352-120665045	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
2	esv3525917	chr12:120345352-120665045	Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
3	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
4	nsv519657	chr12:120533696-120676090	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases
5	nsv560433	chr12:120533696-120676090	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	94 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120555800-120563800	Weak transcription	Aorta	Aorta
2	chr12:120556400-120563800	Weak transcription	Primary hematopoietic stem cells	blood
3	chr12:120556600-120563000	Weak transcription	Fetal Muscle Leg	muscle
4	chr12:120556600-120563000	Weak transcription	Gastric	stomach
5	chr12:120556600-120563600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:120556600-120563600	Weak transcription	Brain Anterior Caudate	brain
7	chr12:120556600-120563600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr12:120556600-120564000	Weak transcription	Lung	lung
9	chr12:120556800-120563000	Weak transcription	Stomach Smooth Muscle	stomach
10	chr12:120556800-120563200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:120556800-120563200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr12:120556800-120563400	Weak transcription	Right Ventricle	heart
13	chr12:120556800-120563600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr12:120556800-120563600	Weak transcription	HUES48 Cell Line	embryonic stem cell
15	chr12:120556800-120563600	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr12:120556800-120563600	Weak transcription	Cortex derived primary cultured neurospheres	brain
17	chr12:120556800-120563600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr12:120556800-120563600	Weak transcription	Sigmoid Colon	Sigmoid Colon
19	chr12:120556800-120563800	Weak transcription	H1 Cell Line	embryonic stem cell
20	chr12:120556800-120563800	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr12:120556800-120563800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
22	chr12:120556800-120563800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr12:120556800-120563800	Weak transcription	Brain Hippocampus Middle	brain
24	chr12:120556800-120563800	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr12:120556800-120563800	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr12:120556800-120564000	Weak transcription	Brain Angular Gyrus	brain
27	chr12:120556800-120564600	Weak transcription	Ovary	ovary
28	chr12:120556800-120564600	Weak transcription	K562	blood
29	chr12:120556800-120565000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr12:120556800-120565200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr12:120556800-120567000	Weak transcription	Fetal Lung	lung
32	chr12:120556800-120571800	Weak transcription	Fetal Brain Male	brain
33	chr12:120556800-120578200	Weak transcription	Fetal Heart	heart
34	chr12:120557000-120563200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:120557000-120563400	Weak transcription	Fetal Intestine Large	intestine
36	chr12:120557000-120563600	Weak transcription	Pancreas	Pancrea
37	chr12:120557000-120563800	Weak transcription	Dnd41	blood
38	chr12:120557000-120564000	Weak transcription	Left Ventricle	heart
39	chr12:120557000-120564400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr12:120557000-120565200	Weak transcription	Psoas Muscle	Psoas
41	chr12:120557200-120563000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr12:120557200-120563400	Weak transcription	Fetal Intestine Small	intestine
43	chr12:120557400-120563200	Weak transcription	Brain Germinal Matrix	brain
44	chr12:120557600-120564000	Weak transcription	Brain Substantia Nigra	brain
45	chr12:120557600-120565200	Weak transcription	Small Intestine	intestine
46	chr12:120557800-120563400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:120557800-120563600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr12:120557800-120563600	Weak transcription	Skeletal Muscle Male	skeletal muscle
49	chr12:120557800-120563600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr12:120557800-120563800	Weak transcription	Liver	Liver

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