Variant report

Variant	rs2291739
Chromosome Location	chr12:56814653-56814654
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: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10876889	0.82[EUR][1000 genomes]
rs10876890	0.86[CEU][hapmap]
rs11171847	0.87[EUR][1000 genomes]
rs11171848	0.87[EUR][1000 genomes]
rs11171849	0.87[EUR][1000 genomes]
rs11171850	0.93[CEU][hapmap];0.87[EUR][1000 genomes]
rs11171852	0.85[CEU][hapmap]
rs11610921	0.86[CEU][hapmap]
rs11833581	0.92[CEU][hapmap];0.83[JPT][hapmap];0.87[EUR][1000 genomes]
rs11833583	0.87[EUR][1000 genomes]
rs12299614	0.93[CEU][hapmap];0.80[GIH][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes]
rs12313431	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1976294	0.84[EUR][1000 genomes]
rs2279665	0.93[CEU][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2291738	0.85[CEU][hapmap];0.95[CHB][hapmap];0.97[CHD][hapmap];0.95[JPT][hapmap];0.96[ASN][1000 genomes]
rs2371455	0.82[ASW][hapmap]
rs2638304	0.87[EUR][1000 genomes]
rs34520497	0.83[EUR][1000 genomes]
rs34644700	0.87[EUR][1000 genomes]
rs3782237	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6581094	0.88[CEU][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6581095	0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs67027355	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs703829	0.93[CEU][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7312888	0.93[CEU][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.96[MKK][hapmap];0.87[TSI][hapmap];0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs774026	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs774027	0.93[CEU][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs774031	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs774032	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs774033	0.93[CEU][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs774034	0.93[CEU][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs774035	0.93[CEU][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs774036	0.92[CEU][hapmap];0.88[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs774037	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs774039	0.93[CEU][hapmap];0.81[GIH][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs774047	0.93[CEU][hapmap];0.95[GIH][hapmap];0.90[JPT][hapmap];0.82[TSI][hapmap];0.88[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7977477	0.93[CEU][hapmap];0.90[JPT][hapmap];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs812278	0.81[EUR][1000 genomes]
rs812279	1.00[CEU][hapmap];0.92[CHD][hapmap];0.80[JPT][hapmap];0.89[TSI][hapmap];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];0.88[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	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:121 , 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	chr12:56806800-56815200	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr12:56806800-56822600	Weak transcription	HSMM	muscle
12	chr12:56806800-56828200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr12:56807000-56827800	Strong transcription	Fetal Muscle Leg	muscle
14	chr12:56807200-56825800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
15	chr12:56807200-56828200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr12:56807200-56829000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr12:56807400-56828000	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr12:56807400-56828000	Strong transcription	HUES6 Cell Line	embryonic stem cell
19	chr12:56807600-56819400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr12:56807600-56828000	Strong transcription	H9 Cell Line	embryonic stem cell
21	chr12:56807600-56828000	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr12:56807600-56828000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
23	chr12:56807600-56828200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr12:56808800-56817200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr12:56809200-56817600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr12:56809200-56828000	Strong transcription	Fetal Thymus	thymus
27	chr12:56809200-56828600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr12:56809600-56828000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:56809800-56818400	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr12:56809800-56819000	Strong transcription	Fetal Muscle Trunk	muscle
31	chr12:56809800-56819200	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr12:56809800-56819200	Strong transcription	Monocytes-CD14+_RO01746	blood
33	chr12:56809800-56827400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
34	chr12:56809800-56827600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:56809800-56827800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr12:56809800-56827800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:56809800-56829000	Strong transcription	Dnd41	blood
38	chr12:56810000-56826000	Weak transcription	NHDF-Ad	bronchial
39	chr12:56810000-56828000	Strong transcription	HUES64 Cell Line	embryonic stem cell
40	chr12:56810000-56828800	Weak transcription	Small Intestine	intestine
41	chr12:56810000-56829400	Weak transcription	Brain Substantia Nigra	brain
42	chr12:56810200-56828000	Strong transcription	A549	lung
43	chr12:56810200-56829400	Weak transcription	HSMMtube	muscle
44	chr12:56810400-56817000	Weak transcription	Aorta	Aorta
45	chr12:56810600-56825000	Strong transcription	Fetal Intestine Large	intestine
46	chr12:56810800-56817800	Strong transcription	Primary T cells from cord blood	blood
47	chr12:56810800-56818800	Strong transcription	Spleen	Spleen
48	chr12:56810800-56819000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
49	chr12:56810800-56819200	Strong transcription	Primary monocytes fromperipheralblood	blood
50	chr12:56810800-56820200	Strong transcription	HepG2	liver

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