Variant report

Variant	rs11043249
Chromosome Location	chr12:122372687-122372688
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:122353628..122357829-chr12:122368964..122373628,4	MCF-7	breast:
2	chr12:122369123..122373485-chr12:122458454..122462950,5	K562	blood:
3	chr12:122370271..122373728-chr12:122458243..122461695,4	K562	blood:
4	chr12:121903591..121905313-chr12:122372239..122374575,2	K562	blood:
5	chr12:122241918..122243936-chr12:122370973..122373698,2	K562	blood:

Variant related genes	Relation type
ENSG00000139718	Chromatin interaction
ENSG00000110987	Chromatin interaction
ENSG00000158023	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10840635	0.81[JPT][hapmap]
rs10840639	0.84[ASN][1000 genomes]
rs10840640	0.80[ASN][1000 genomes]
rs11043231	0.92[EUR][1000 genomes]
rs11043252	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11043253	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043254	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11043265	0.81[JPT][hapmap]
rs11043276	0.81[JPT][hapmap]
rs11043281	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[ASN][1000 genomes]
rs11043287	0.82[ASN][1000 genomes]
rs12228603	0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12231594	0.84[ASN][1000 genomes]
rs2177330	0.91[ASN][1000 genomes]
rs3741582	0.84[ASN][1000 genomes]
rs3741586	1.00[CEU][hapmap];0.90[TSI][hapmap];0.88[EUR][1000 genomes]
rs58504997	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59325626	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6486783	1.00[CEU][hapmap]
rs6486785	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7139277	0.81[JPT][hapmap]
rs7294458	0.83[ASN][1000 genomes]
rs7298520	1.00[CEU][hapmap];0.82[CHB][hapmap];0.89[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs7314989	0.81[JPT][hapmap];0.82[TSI][hapmap]
rs7316212	0.84[JPT][hapmap]
rs7486904	0.92[EUR][1000 genomes]
rs7954584	0.81[JPT][hapmap]
rs7964357	0.92[EUR][1000 genomes]
rs7978966	0.92[EUR][1000 genomes]
rs830127	1.00[CEU][hapmap];1.00[CHB][hapmap];0.96[CHD][hapmap];0.91[GIH][hapmap];0.89[JPT][hapmap];0.96[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:73 , 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	chr12:122363400-122375000	Weak transcription	Spleen	Spleen
7	chr12:122363400-122377000	Weak transcription	Fetal Intestine Small	intestine
8	chr12:122363600-122374400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr12:122363600-122374400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr12:122363600-122374600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:122363600-122375000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr12:122363600-122375000	Weak transcription	Stomach Smooth Muscle	stomach
13	chr12:122363600-122375400	Weak transcription	Right Atrium	heart
14	chr12:122363600-122377400	Weak transcription	Fetal Brain Female	brain
15	chr12:122363600-122383600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr12:122363600-122383800	Weak transcription	Fetal Brain Male	brain
17	chr12:122363600-122385600	Weak transcription	Fetal Lung	lung
18	chr12:122363600-122392200	Weak transcription	Left Ventricle	heart
19	chr12:122363600-122398600	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr12:122363600-122408000	Weak transcription	Right Ventricle	heart
21	chr12:122365400-122375000	Weak transcription	Lung	lung
22	chr12:122365600-122385800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:122365600-122393400	Weak transcription	Brain Substantia Nigra	brain
24	chr12:122365800-122374600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr12:122365800-122375000	Weak transcription	Liver	Liver
26	chr12:122365800-122390200	Weak transcription	HUVEC	blood vessel
27	chr12:122365800-122405000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr12:122366000-122376800	Weak transcription	HMEC	breast
29	chr12:122366600-122374800	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr12:122369600-122375800	Strong transcription	Skeletal Muscle Female	skeletal muscle
31	chr12:122369600-122376000	Strong transcription	Muscle Satellite Cultured Cells	--
32	chr12:122369600-122376000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr12:122369800-122376800	Weak transcription	Placenta	Placenta
34	chr12:122370000-122373600	Weak transcription	HSMMtube	muscle
35	chr12:122370000-122374600	Weak transcription	Ovary	ovary
36	chr12:122370000-122375000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr12:122370200-122372800	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr12:122370600-122387800	Weak transcription	NHDF-Ad	bronchial
39	chr12:122370600-122403200	Weak transcription	Fetal Kidney	kidney
40	chr12:122370800-122375000	Weak transcription	Osteobl	bone
41	chr12:122371000-122373800	Weak transcription	Brain Anterior Caudate	brain
42	chr12:122371200-122375200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr12:122371400-122374400	Weak transcription	Pancreas	Pancrea
44	chr12:122371400-122374800	Strong transcription	Fetal Stomach	stomach
45	chr12:122371400-122375000	Weak transcription	Aorta	Aorta
46	chr12:122371600-122372800	Enhancers	Primary neutrophils fromperipheralblood	blood
47	chr12:122371600-122372800	Strong transcription	Brain Hippocampus Middle	brain
48	chr12:122371800-122375200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr12:122372000-122372800	Strong transcription	Fetal Muscle Leg	muscle
50	chr12:122372000-122373200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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