Variant report

Variant	rs11043255
Chromosome Location	chr12:122380201-122380202
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122370833..122372465-chr12:122378828..122381354,2	K562	blood:
2	chr12:122370965..122375121-chr12:122376467..122380328,6	K562	blood:

Variant related genes	Relation type
ENSG00000158023	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:36)

rs_ID	r²[population]
rs10431199	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10840642	0.90[EUR][1000 genomes]
rs11043216	1.00[JPT][hapmap];0.81[YRI][hapmap]
rs11043229	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11043237	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11043242	0.90[CHB][hapmap];1.00[JPT][hapmap]
rs11043263	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11043277	0.87[AFR][1000 genomes];0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11043285	0.91[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11043286	0.91[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11043290	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs11043292	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11043295	0.91[ASN][1000 genomes]
rs11829607	0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12230823	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1610041	1.00[JPT][hapmap]
rs2707058	1.00[CEU][hapmap]
rs34768683	0.99[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3847694	1.00[JPT][hapmap]
rs4069668	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56040016	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs56122558	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs56142842	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58326739	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59922210	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7137708	0.85[EUR][1000 genomes]
rs7138296	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7313252	1.00[JPT][hapmap]
rs73415674	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73415687	0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs73415696	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7958406	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs7961660	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7969846	1.00[YRI][hapmap]
rs7971538	0.91[CHB][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7978386	0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529868	chr12:121956483-122944265	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases
2	nsv916686	chr12:122240149-122714056	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
3	nsv899568	chr12:122254713-122456524	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	esv34001	chr12:122298737-122521637	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122357000-122380400	Weak transcription	Gastric	stomach
2	chr12:122357000-122383600	Weak transcription	Primary T cells from cord blood	blood
3	chr12:122363000-122384800	Weak transcription	Psoas Muscle	Psoas
4	chr12:122363000-122393400	Weak transcription	Brain Angular Gyrus	brain
5	chr12:122363200-122384600	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:122363600-122383600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr12:122363600-122383800	Weak transcription	Fetal Brain Male	brain
8	chr12:122363600-122385600	Weak transcription	Fetal Lung	lung
9	chr12:122363600-122392200	Weak transcription	Left Ventricle	heart
10	chr12:122363600-122398600	Weak transcription	Skeletal Muscle Male	skeletal muscle
11	chr12:122363600-122408000	Weak transcription	Right Ventricle	heart
12	chr12:122365600-122385800	Weak transcription	Fetal Muscle Trunk	muscle
13	chr12:122365600-122393400	Weak transcription	Brain Substantia Nigra	brain
14	chr12:122365800-122390200	Weak transcription	HUVEC	blood vessel
15	chr12:122365800-122405000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr12:122370600-122387800	Weak transcription	NHDF-Ad	bronchial
17	chr12:122370600-122403200	Weak transcription	Fetal Kidney	kidney
18	chr12:122372200-122396400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:122372800-122393600	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:122374000-122402800	Weak transcription	HSMM	muscle
21	chr12:122374000-122405600	Weak transcription	Adipose Nuclei	Adipose
22	chr12:122374800-122382200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr12:122375200-122380400	Weak transcription	Spleen	Spleen
24	chr12:122375400-122380400	Weak transcription	Lung	lung
25	chr12:122375400-122401400	Weak transcription	Ovary	ovary
26	chr12:122375400-122402600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr12:122375600-122384000	Weak transcription	A549	lung
28	chr12:122375800-122380800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr12:122375800-122381800	Weak transcription	K562	blood
30	chr12:122375800-122384000	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr12:122375800-122385800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr12:122375800-122393600	Weak transcription	Brain Inferior Temporal Lobe	brain
33	chr12:122375800-122415800	Weak transcription	Liver	Liver
34	chr12:122376000-122380600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:122376000-122382000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr12:122376000-122388000	Weak transcription	NHLF	lung
37	chr12:122376000-122393400	Weak transcription	Brain Anterior Caudate	brain
38	chr12:122376000-122401600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr12:122376000-122413000	Weak transcription	Aorta	Aorta
40	chr12:122377400-122381800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
41	chr12:122377400-122383200	Weak transcription	Fetal Intestine Small	intestine
42	chr12:122377400-122406200	Weak transcription	Thymus	Thymus
43	chr12:122377600-122380400	Weak transcription	Fetal Thymus	thymus
44	chr12:122377600-122380400	Weak transcription	HepG2	liver
45	chr12:122378200-122382200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr12:122378600-122384400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr12:122378800-122384200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr12:122379400-122380400	Genic enhancers	NHEK	skin
49	chr12:122379400-122383200	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr12:122379600-122380600	Strong transcription	Muscle Satellite Cultured Cells	--

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