Variant report

Variant	rs7967840
Chromosome Location	chr12:46772171-46772172
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:46769477..46772174-chr12:46953105..46955870,2	K562	blood:
2	chr12:46771601..46773692-chr12:46823826..46825790,2	K562	blood:
3	chr12:46770827..46772736-chr12:46884583..46887256,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs11183453	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11183454	0.88[JPT][hapmap]
rs1125908	0.89[JPT][hapmap]
rs11833812	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11834593	0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17096884	0.94[JPT][hapmap]
rs1948425	0.83[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.88[TSI][hapmap];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2125646	0.89[JPT][hapmap]
rs2307059	1.00[CHB][hapmap];0.94[JPT][hapmap];0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2307062	0.89[JPT][hapmap]
rs2307063	0.89[JPT][hapmap]
rs2408509	0.89[JPT][hapmap]
rs3742061	0.94[JPT][hapmap]
rs55795804	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57199226	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs57786829	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs58545634	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs59546893	0.87[EUR][1000 genomes]
rs73282593	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832398	chr12:46611692-46825530	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	181 gene(s)	inside rSNPs	diseases
2	esv1842882	chr12:46691487-47009428	Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	149 gene(s)	inside rSNPs	diseases
3	nsv1049525	chr12:46721742-47264172	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
4	nsv541486	chr12:46721742-47264172	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	esv3429861	chr12:46762813-46988789	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	145 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:46767800-46773800	Weak transcription	Pancreas	Pancrea
2	chr12:46767800-46774000	Weak transcription	Colon Smooth Muscle	Colon
3	chr12:46767800-46774600	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr12:46767800-46776200	Weak transcription	Small Intestine	intestine
5	chr12:46768000-46775600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr12:46768000-46776200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr12:46768000-46776200	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr12:46768000-46776200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
9	chr12:46768000-46776200	Weak transcription	Brain Substantia Nigra	brain
10	chr12:46768000-46776200	Weak transcription	Placenta	Placenta
11	chr12:46768000-46776200	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr12:46768000-46776400	Weak transcription	Gastric	stomach
13	chr12:46768000-46776400	Weak transcription	Left Ventricle	heart
14	chr12:46768000-46776400	Weak transcription	Psoas Muscle	Psoas
15	chr12:46768200-46773800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr12:46768200-46775800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr12:46768200-46776000	Weak transcription	NH-A	brain
18	chr12:46768400-46773600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr12:46768400-46775600	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr12:46768400-46775800	Weak transcription	A549	lung
21	chr12:46768400-46776000	Weak transcription	NHEK	skin
22	chr12:46768400-46776200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr12:46768400-46776200	Weak transcription	Monocytes-CD14+_RO01746	blood
24	chr12:46768400-46776400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr12:46768600-46775800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr12:46768600-46776200	Weak transcription	Thymus	Thymus
27	chr12:46768800-46772200	Enhancers	HepG2	liver
28	chr12:46768800-46772800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr12:46768800-46772800	Enhancers	Hela-S3	cervix
30	chr12:46768800-46773800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr12:46768800-46774000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:46768800-46775600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr12:46768800-46775600	Weak transcription	NHLF	lung
34	chr12:46768800-46776000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr12:46768800-46776200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
36	chr12:46768800-46776200	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr12:46769200-46772400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr12:46769200-46774000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr12:46769200-46776000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr12:46769200-46776200	Weak transcription	Primary hematopoietic stem cells	blood
41	chr12:46769200-46776400	Weak transcription	Primary T cells from cord blood	blood
42	chr12:46770600-46773400	Weak transcription	Fetal Intestine Large	intestine
43	chr12:46770800-46775600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr12:46771000-46776200	Weak transcription	Liver	Liver
45	chr12:46771000-46776200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr12:46771200-46772200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr12:46771200-46773600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr12:46771400-46773200	Enhancers	K562	blood
49	chr12:46771600-46772200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
50	chr12:46771600-46772200	Enhancers	HUES48 Cell Line	embryonic stem cell

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