Variant report

Variant	rs57781745
Chromosome Location	chr12:120563961-120563962
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 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	chr12:120560646..120564537-chr12:120726297..120728813,4	MCF-7	breast:
7	chr12:120561796..120564590-chr12:120575330..120577438,3	K562	blood:
8	chr12:120561904..120564526-chr12:120630597..120632939,2	K562	blood:
9	chr12:120562224..120563971-chr12:120592697..120595294,3	K562	blood:

No data

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

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12580868	1.00[AMR][1000 genomes]
rs12582981	1.00[AMR][1000 genomes]
rs56049778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60287150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:120556600-120564000	Weak transcription	Lung	lung
2	chr12:120556800-120564000	Weak transcription	Brain Angular Gyrus	brain
3	chr12:120556800-120564600	Weak transcription	Ovary	ovary
4	chr12:120556800-120564600	Weak transcription	K562	blood
5	chr12:120556800-120565000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr12:120556800-120565200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr12:120556800-120567000	Weak transcription	Fetal Lung	lung
8	chr12:120556800-120571800	Weak transcription	Fetal Brain Male	brain
9	chr12:120556800-120578200	Weak transcription	Fetal Heart	heart
10	chr12:120557000-120564000	Weak transcription	Left Ventricle	heart
11	chr12:120557000-120564400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr12:120557000-120565200	Weak transcription	Psoas Muscle	Psoas
13	chr12:120557600-120564000	Weak transcription	Brain Substantia Nigra	brain
14	chr12:120557600-120565200	Weak transcription	Small Intestine	intestine
15	chr12:120557800-120564000	Weak transcription	Adipose Nuclei	Adipose
16	chr12:120557800-120564000	Weak transcription	Stomach Mucosa	stomach
17	chr12:120557800-120564000	Weak transcription	HMEC	breast
18	chr12:120557800-120564400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr12:120558000-120564000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr12:120558000-120564000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr12:120558000-120564000	Weak transcription	Hela-S3	cervix
22	chr12:120558000-120564000	Weak transcription	NHEK	skin
23	chr12:120558000-120564400	Weak transcription	HSMMtube	muscle
24	chr12:120558000-120565200	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr12:120559200-120564200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr12:120560000-120564600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr12:120560000-120565600	Weak transcription	Colonic Mucosa	Colon
28	chr12:120560400-120565200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr12:120561400-120564400	Weak transcription	HepG2	liver
30	chr12:120562000-120564600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr12:120562000-120567400	Weak transcription	Fetal Kidney	kidney
32	chr12:120562200-120564000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
33	chr12:120562200-120564000	Weak transcription	Thymus	Thymus
34	chr12:120562200-120564000	Weak transcription	Spleen	Spleen
35	chr12:120562200-120564200	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr12:120562200-120564200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:120562200-120564200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:120562200-120564400	Weak transcription	Primary T helper cells fromperipheralblood	blood
39	chr12:120562200-120564600	Weak transcription	Primary B cells from peripheral blood	blood
40	chr12:120562200-120564600	Weak transcription	Esophagus	oesophagus
41	chr12:120562200-120567000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
42	chr12:120562400-120564000	Weak transcription	Primary T helper cells PMA-I stimulated	--
43	chr12:120562400-120564000	Weak transcription	GM12878-XiMat	blood
44	chr12:120562400-120564800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr12:120562400-120565000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr12:120562400-120565200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr12:120562400-120567600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr12:120563000-120565400	Enhancers	Primary monocytes fromperipheralblood	blood
49	chr12:120563000-120568600	Strong transcription	Gastric	stomach
50	chr12:120563000-120580200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived

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