Variant report

Variant	rs17118590
Chromosome Location	chr12:56818409-56818410
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:56813243..56817002-chr12:56817110..56819690,3	K562	blood:

Variant related genes	Relation type
ENSG00000111602	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10876885	1.00[EUR][1000 genomes]
rs11171818	1.00[EUR][1000 genomes]
rs11171819	1.00[EUR][1000 genomes]
rs11171822	1.00[EUR][1000 genomes]
rs11575221	1.00[EUR][1000 genomes]
rs11575236	1.00[EUR][1000 genomes]
rs11830379	1.00[EUR][1000 genomes]
rs11832580	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11833064	1.00[EUR][1000 genomes]
rs11834948	1.00[EUR][1000 genomes]
rs12306512	1.00[EUR][1000 genomes]
rs12318887	1.00[EUR][1000 genomes]
rs12322356	1.00[EUR][1000 genomes]
rs17118461	1.00[EUR][1000 genomes]
rs1918496	1.00[EUR][1000 genomes]
rs2629445	1.00[EUR][1000 genomes]
rs4301822	1.00[EUR][1000 genomes]
rs57387549	1.00[EUR][1000 genomes]
rs58349500	1.00[EUR][1000 genomes]
rs59286728	1.00[EUR][1000 genomes]
rs61733875	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6581093	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72478990	1.00[EUR][1000 genomes]
rs73324353	1.00[EUR][1000 genomes]
rs73324358	1.00[EUR][1000 genomes]
rs74094726	0.88[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7954200	1.00[EUR][1000 genomes]
rs7962107	1.00[EUR][1000 genomes]
rs7975405	1.00[EUR][1000 genomes]
rs7977692	1.00[EUR][1000 genomes]
rs7979812	1.00[EUR][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	nsv1043622	chr12:56571476-56974448	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
2	nsv541500	chr12:56571476-56974448	Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:56799400-56831600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:56803600-56822200	Weak transcription	Colonic Mucosa	Colon
3	chr12:56805000-56826000	Weak transcription	Right Ventricle	heart
4	chr12:56805800-56819600	Strong transcription	Fetal Stomach	stomach
5	chr12:56805800-56828200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr12:56806000-56819000	Strong transcription	Thymus	Thymus
7	chr12:56806000-56821800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr12:56806000-56831200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr12:56806600-56819600	Strong transcription	Fetal Intestine Small	intestine
10	chr12:56806800-56822600	Weak transcription	HSMM	muscle
11	chr12:56806800-56828200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr12:56807000-56827800	Strong transcription	Fetal Muscle Leg	muscle
13	chr12:56807200-56825800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr12:56807200-56828200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr12:56807200-56829000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr12:56807400-56828000	Strong transcription	H1 Cell Line	embryonic stem cell
17	chr12:56807400-56828000	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr12:56807600-56819400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr12:56807600-56828000	Strong transcription	H9 Cell Line	embryonic stem cell
20	chr12:56807600-56828000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr12:56807600-56828000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr12:56807600-56828200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr12:56809200-56828000	Strong transcription	Fetal Thymus	thymus
24	chr12:56809200-56828600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:56809600-56828000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr12:56809800-56819000	Strong transcription	Fetal Muscle Trunk	muscle
27	chr12:56809800-56819200	Strong transcription	Cortex derived primary cultured neurospheres	brain
28	chr12:56809800-56819200	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr12:56809800-56827400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
30	chr12:56809800-56827600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr12:56809800-56827800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr12:56809800-56827800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
33	chr12:56809800-56829000	Strong transcription	Dnd41	blood
34	chr12:56810000-56826000	Weak transcription	NHDF-Ad	bronchial
35	chr12:56810000-56828000	Strong transcription	HUES64 Cell Line	embryonic stem cell
36	chr12:56810000-56828800	Weak transcription	Small Intestine	intestine
37	chr12:56810000-56829400	Weak transcription	Brain Substantia Nigra	brain
38	chr12:56810200-56828000	Strong transcription	A549	lung
39	chr12:56810200-56829400	Weak transcription	HSMMtube	muscle
40	chr12:56810600-56825000	Strong transcription	Fetal Intestine Large	intestine
41	chr12:56810800-56818800	Strong transcription	Spleen	Spleen
42	chr12:56810800-56819000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr12:56810800-56819200	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr12:56810800-56820200	Strong transcription	HepG2	liver
45	chr12:56810800-56826000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr12:56811000-56819000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr12:56811000-56819200	Strong transcription	Placenta	Placenta
48	chr12:56811000-56819400	Strong transcription	GM12878-XiMat	blood
49	chr12:56811000-56820000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr12:56811200-56824600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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