Variant report

Variant	rs11043207
Chromosome Location	chr12:122268696-122268697
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:122263316..122269840-chr12:122275192..122277563,9	K562	blood:
2	chr12:122261003..122262555-chr12:122266900..122268713,2	MCF-7	breast:

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs1004390	0.87[EUR][1000 genomes]
rs11043202	0.83[EUR][1000 genomes]
rs11043203	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs11043251	1.00[JPT][hapmap]
rs11609272	1.00[JPT][hapmap]
rs1168664	0.83[EUR][1000 genomes]
rs1168665	0.82[EUR][1000 genomes]
rs1168666	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[EUR][1000 genomes]
rs1168669	0.80[EUR][1000 genomes]
rs1168671	1.00[CEU][hapmap];1.00[CHB][hapmap];0.83[EUR][1000 genomes]
rs1168672	0.80[EUR][1000 genomes]
rs1168673	1.00[CEU][hapmap];0.83[EUR][1000 genomes]
rs12307227	0.83[EUR][1000 genomes]
rs12823194	0.83[EUR][1000 genomes]
rs12832268	1.00[CHB][hapmap]
rs1667578	0.80[EUR][1000 genomes]
rs1667579	0.83[EUR][1000 genomes]
rs1795965	0.82[EUR][1000 genomes]
rs2019561	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs2019562	0.84[EUR][1000 genomes]
rs2122266	0.84[EUR][1000 genomes]
rs2707066	0.82[EUR][1000 genomes]
rs712852	1.00[CEU][hapmap];1.00[CHB][hapmap];0.80[EUR][1000 genomes]
rs7136373	1.00[CHB][hapmap]
rs7308123	1.00[CHB][hapmap]
rs7957564	0.85[EUR][1000 genomes]
rs7974348	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[EUR][1000 genomes]
rs895951	1.00[CEU][hapmap];0.80[EUR][1000 genomes]
rs895952	0.80[EUR][1000 genomes]
rs895953	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs895954	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[EUR][1000 genomes]
rs895957	1.00[CEU][hapmap];0.82[EUR][1000 genomes]
rs921286	1.00[CEU][hapmap]
rs921287	1.00[CEU][hapmap];0.81[EUR][1000 genomes]
rs930665	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 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	nsv899567	chr12:122203680-122281575	Enhancers Genic enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	97 gene(s)	inside rSNPs	diseases
3	nsv984477	chr12:122226309-122271532	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	95 gene(s)	inside rSNPs	diseases
4	nsv911	chr12:122234524-122279425	Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
5	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
6	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11043207	AC084018.1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:122250800-122270200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr12:122250800-122270400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:122250800-122277200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr12:122251000-122270200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr12:122251000-122270400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr12:122251200-122270600	Strong transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:122251200-122277000	Weak transcription	Right Atrium	heart
8	chr12:122251400-122270400	Strong transcription	Fetal Muscle Trunk	muscle
9	chr12:122251600-122268800	Strong transcription	Primary T cells from cord blood	blood
10	chr12:122251600-122270400	Strong transcription	Brain Inferior Temporal Lobe	brain
11	chr12:122251600-122270400	Strong transcription	NHLF	lung
12	chr12:122251600-122270400	Strong transcription	Osteobl	bone
13	chr12:122251600-122270800	Strong transcription	Fetal Muscle Leg	muscle
14	chr12:122251600-122270800	Strong transcription	Fetal Stomach	stomach
15	chr12:122251800-122270200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr12:122251800-122270200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:122251800-122270400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr12:122251800-122270400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr12:122251800-122270400	Strong transcription	Fetal Brain Female	brain
20	chr12:122251800-122270400	Strong transcription	Fetal Intestine Large	intestine
21	chr12:122251800-122270400	Strong transcription	Rectal Mucosa Donor 31	rectum
22	chr12:122251800-122270600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr12:122251800-122270800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr12:122252000-122270200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr12:122252000-122270200	Strong transcription	Duodenum Mucosa	Duodenum
26	chr12:122252000-122270200	Strong transcription	Sigmoid Colon	Sigmoid Colon
27	chr12:122252000-122270200	Strong transcription	Skeletal Muscle Male	skeletal muscle
28	chr12:122252000-122270200	Strong transcription	Dnd41	blood
29	chr12:122252000-122270400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr12:122252000-122270400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:122252000-122270400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr12:122252000-122270600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr12:122252000-122270800	Strong transcription	Primary T helper cells PMA-I stimulated	--
34	chr12:122252000-122270800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
35	chr12:122252000-122270800	Strong transcription	Liver	Liver
36	chr12:122252000-122271400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:122252000-122271400	Strong transcription	Fetal Intestine Small	intestine
38	chr12:122252200-122269800	Strong transcription	Primary monocytes fromperipheralblood	blood
39	chr12:122252200-122270800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
40	chr12:122252400-122269400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr12:122252400-122270400	Strong transcription	Primary T helper cells fromperipheralblood	blood
42	chr12:122252400-122270800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr12:122252600-122269200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:122252800-122270600	Strong transcription	Placenta	Placenta
45	chr12:122253000-122269400	Strong transcription	Primary neutrophils fromperipheralblood	blood
46	chr12:122253200-122270200	Strong transcription	Spleen	Spleen
47	chr12:122253400-122270400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr12:122253600-122270600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr12:122254400-122270800	Strong transcription	Thymus	Thymus
50	chr12:122255000-122271600	Strong transcription	Fetal Thymus	thymus

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