Variant report

Variant	rs7134951
Chromosome Location	chr12:31804763-31804764
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	chr12:31804590..31806513-chr12:31889274..31891655,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11051525	0.88[AMR][1000 genomes]
rs11051541	0.90[AMR][1000 genomes]
rs11051545	0.90[AMR][1000 genomes]
rs12813042	0.88[AMR][1000 genomes]
rs12813399	0.88[AMR][1000 genomes]
rs35517071	0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3850979	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7297921	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs7300260	0.90[AMR][1000 genomes]
rs7302229	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7960893	0.88[AMR][1000 genomes]
rs7978407	0.86[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1041877	chr12:31009451-31809254	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
2	nsv541440	chr12:31009451-31809254	ZNF genes & repeats Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	71 gene(s)	inside rSNPs	diseases
3	esv2760267	chr12:31626732-31909908	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
4	nsv832365	chr12:31642811-31808532	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
5	nsv1043010	chr12:31798446-32143151	ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv541446	chr12:31798446-32143151	Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
7	esv3432694	chr12:31801467-32109828	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription 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	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:31799200-31811400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr12:31800200-31811600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:31800400-31805800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr12:31800400-31805800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
5	chr12:31800400-31811400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr12:31800600-31805600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr12:31800600-31805600	Weak transcription	Primary B cells from peripheral blood	blood
8	chr12:31800600-31805600	Weak transcription	HMEC	breast
9	chr12:31800600-31805600	Weak transcription	Monocytes-CD14+_RO01746	blood
10	chr12:31800600-31805800	Weak transcription	Primary B cells from cord blood	blood
11	chr12:31800600-31805800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr12:31800600-31805800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr12:31800600-31805800	Weak transcription	NHEK	skin
14	chr12:31800800-31805800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr12:31802600-31805000	Weak transcription	Rectal Smooth Muscle	rectum
16	chr12:31803000-31805200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:31803000-31805600	ZNF genes & repeats	Fetal Intestine Small	intestine
18	chr12:31803200-31805000	Enhancers	Small Intestine	intestine
19	chr12:31803200-31805400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:31803600-31804800	Flanking Active TSS	Adipose Nuclei	Adipose
21	chr12:31803600-31804800	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr12:31803600-31805400	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr12:31803800-31805600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:31803800-31806000	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr12:31803800-31806400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr12:31803800-31806400	Active TSS	NHDF-Ad	bronchial
27	chr12:31803800-31806600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr12:31804000-31805600	Weak transcription	A549	lung
29	chr12:31804000-31805800	Enhancers	Duodenum Mucosa	Duodenum
30	chr12:31804000-31806000	Weak transcription	Fetal Muscle Leg	muscle
31	chr12:31804000-31806400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr12:31804000-31808600	Weak transcription	Placenta Amnion	Placenta Amnion
33	chr12:31804000-31811600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr12:31804000-31811600	Weak transcription	Lung	lung
35	chr12:31804200-31805400	Active TSS	K562	blood
36	chr12:31804200-31805800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr12:31804200-31806000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr12:31804200-31806000	Weak transcription	Fetal Kidney	kidney
39	chr12:31804200-31806000	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr12:31804200-31806000	Weak transcription	Right Atrium	heart
41	chr12:31804200-31806000	Weak transcription	Stomach Mucosa	stomach
42	chr12:31804200-31806000	Weak transcription	HUVEC	blood vessel
43	chr12:31804400-31804800	Enhancers	Fetal Muscle Trunk	muscle
44	chr12:31804400-31804800	Weak transcription	Pancreas	Pancrea
45	chr12:31804400-31805200	Enhancers	Colonic Mucosa	Colon
46	chr12:31804400-31806000	Enhancers	Hela-S3	cervix
47	chr12:31804600-31805000	Flanking Active TSS	HepG2	liver
48	chr12:31804600-31805200	Active TSS	Placenta	Placenta
49	chr12:31804600-31805800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:31804600-31805800	Weak transcription	Ovary	ovary

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