Variant report

Variant	rs73410893
Chromosome Location	chr12:120563279-120563280
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:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 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	chr12:120563247..120566138-chr12:120667553..120669800,2	MCF-7	breast:
5	chr12:120562076..120563996-chr12:120632946..120634674,2	K562	blood:
6	chr12:120561925..120563648-chr12:120667739..120670072,2	K562	blood:
7	chr12:120560646..120564537-chr12:120726297..120728813,4	MCF-7	breast:
8	chr12:120561767..120563673-chr12:120616678..120618274,2	K562	blood:
9	chr12:120561796..120564590-chr12:120575330..120577438,3	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	chr12:120562224..120563971-chr12:120592697..120595294,3	K562	blood:

No data

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

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs57754755	1.00[AFR][1000 genomes]
rs58514835	1.00[AFR][1000 genomes]
rs59207263	1.00[AFR][1000 genomes]
rs60106205	1.00[AFR][1000 genomes]
rs60553526	1.00[AFR][1000 genomes]
rs60656828	1.00[AFR][1000 genomes]
rs60723082	1.00[AFR][1000 genomes]
rs61291824	1.00[AFR][1000 genomes]
rs73410881	1.00[AFR][1000 genomes]
rs73410890	1.00[AFR][1000 genomes]
rs73410899	1.00[AFR][1000 genomes]
rs73410901	1.00[AFR][1000 genomes]
rs73412805	1.00[AFR][1000 genomes]
rs73412808	1.00[AFR][1000 genomes]
rs73412809	1.00[AFR][1000 genomes]
rs73412816	1.00[AFR][1000 genomes]
rs73412864	1.00[AFR][1000 genomes]
rs73412896	1.00[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	chr12:120556600-120563600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr12:120556600-120563600	Weak transcription	Brain Anterior Caudate	brain
5	chr12:120556600-120563600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:120556600-120564000	Weak transcription	Lung	lung
7	chr12:120556800-120563400	Weak transcription	Right Ventricle	heart
8	chr12:120556800-120563600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr12:120556800-120563600	Weak transcription	HUES48 Cell Line	embryonic stem cell
10	chr12:120556800-120563600	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr12:120556800-120563600	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr12:120556800-120563600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr12:120556800-120563600	Weak transcription	Sigmoid Colon	Sigmoid Colon
14	chr12:120556800-120563800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr12:120556800-120563800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr12:120556800-120563800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr12:120556800-120563800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr12:120556800-120563800	Weak transcription	Brain Hippocampus Middle	brain
19	chr12:120556800-120563800	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr12:120556800-120563800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr12:120556800-120564000	Weak transcription	Brain Angular Gyrus	brain
22	chr12:120556800-120564600	Weak transcription	Ovary	ovary
23	chr12:120556800-120564600	Weak transcription	K562	blood
24	chr12:120556800-120565000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr12:120556800-120565200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr12:120556800-120567000	Weak transcription	Fetal Lung	lung
27	chr12:120556800-120571800	Weak transcription	Fetal Brain Male	brain
28	chr12:120556800-120578200	Weak transcription	Fetal Heart	heart
29	chr12:120557000-120563400	Weak transcription	Fetal Intestine Large	intestine
30	chr12:120557000-120563600	Weak transcription	Pancreas	Pancrea
31	chr12:120557000-120563800	Weak transcription	Dnd41	blood
32	chr12:120557000-120564000	Weak transcription	Left Ventricle	heart
33	chr12:120557000-120564400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr12:120557000-120565200	Weak transcription	Psoas Muscle	Psoas
35	chr12:120557200-120563400	Weak transcription	Fetal Intestine Small	intestine
36	chr12:120557600-120564000	Weak transcription	Brain Substantia Nigra	brain
37	chr12:120557600-120565200	Weak transcription	Small Intestine	intestine
38	chr12:120557800-120563400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
39	chr12:120557800-120563600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr12:120557800-120563600	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr12:120557800-120563600	Weak transcription	Skeletal Muscle Female	skeletal muscle
42	chr12:120557800-120563800	Weak transcription	Liver	Liver
43	chr12:120557800-120563800	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr12:120557800-120564000	Weak transcription	Adipose Nuclei	Adipose
45	chr12:120557800-120564000	Weak transcription	Stomach Mucosa	stomach
46	chr12:120557800-120564000	Weak transcription	HMEC	breast
47	chr12:120557800-120564400	Weak transcription	Rectal Smooth Muscle	rectum
48	chr12:120558000-120563600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr12:120558000-120563600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr12:120558000-120563600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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