Variant report

Variant	rs12958901
Chromosome Location	chr18:9535143-9535144
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:9532714..9535374-chr18:9538011..9541723,5	K562	blood:
2	chr18:9530961..9533128-chr18:9534267..9536483,2	K562	blood:
3	chr18:9534609..9536711-chr18:9542982..9545510,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs11876700	0.88[EUR][1000 genomes]
rs12680	0.92[EUR][1000 genomes]
rs12955301	0.88[EUR][1000 genomes]
rs12958342	0.88[EUR][1000 genomes]
rs12958352	0.88[EUR][1000 genomes]
rs12965004	0.88[EUR][1000 genomes]
rs12965619	0.88[EUR][1000 genomes]
rs12966136	0.90[EUR][1000 genomes]
rs12969608	0.88[EUR][1000 genomes]
rs12970100	0.88[EUR][1000 genomes]
rs16955222	0.92[EUR][1000 genomes]
rs16955240	0.90[EUR][1000 genomes]
rs16955247	0.90[EUR][1000 genomes]
rs34361892	0.88[EUR][1000 genomes]
rs34863209	0.88[EUR][1000 genomes]
rs34870926	0.88[EUR][1000 genomes]
rs34979461	0.88[EUR][1000 genomes]
rs35062594	0.86[EUR][1000 genomes]
rs35189459	0.82[EUR][1000 genomes]
rs35833761	0.88[EUR][1000 genomes]
rs36064377	1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[EUR][1000 genomes]
rs57539532	0.88[EUR][1000 genomes]
rs71362083	0.88[EUR][1000 genomes]
rs7228633	0.90[EUR][1000 genomes]
rs7231281	1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[EUR][1000 genomes]
rs7231656	0.88[EUR][1000 genomes]
rs7232664	1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[EUR][1000 genomes]
rs7236410	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs8085681	0.88[EUR][1000 genomes]
rs8096628	1.00[CHD][hapmap];1.00[GIH][hapmap]
rs8099656	1.00[CHD][hapmap];1.00[GIH][hapmap];0.88[EUR][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	nsv916373	chr18:9026803-9592201	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Active TSS 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	60 gene(s)	inside rSNPs	diseases
2	nsv1056407	chr18:9144345-9553764	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Genic enhancers 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	42 gene(s)	inside rSNPs	diseases
3	nsv1062025	chr18:9287249-9552470	Flanking Active TSS Strong transcription Bivalent/Poised TSS Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv543643	chr18:9287249-9552470	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	nsv833585	chr18:9401630-9597291	Weak transcription Enhancers ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv428005	chr18:9401658-9542396	Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
7	esv3693417	chr18:9512985-9693638	Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9513600-9537800	Weak transcription	Fetal Brain Male	brain
2	chr18:9521400-9541800	Strong transcription	Fetal Stomach	stomach
3	chr18:9521600-9540800	Strong transcription	Fetal Thymus	thymus
4	chr18:9521800-9540400	Strong transcription	Dnd41	blood
5	chr18:9521800-9540600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
6	chr18:9522000-9538400	Strong transcription	Primary B cells from peripheral blood	blood
7	chr18:9522000-9538800	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr18:9522200-9536200	Strong transcription	HSMM	muscle
9	chr18:9522200-9539000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr18:9522200-9540600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr18:9522600-9539200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr18:9522600-9540400	Strong transcription	Fetal Intestine Large	intestine
13	chr18:9523400-9535400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr18:9525800-9547200	Weak transcription	Stomach Mucosa	stomach
15	chr18:9526400-9535400	Strong transcription	Adipose Nuclei	Adipose
16	chr18:9526600-9540400	Strong transcription	Rectal Mucosa Donor 29	rectum
17	chr18:9526800-9552600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr18:9527000-9535800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr18:9527600-9546200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr18:9528000-9546600	Weak transcription	Fetal Kidney	kidney
21	chr18:9528600-9535600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr18:9528600-9547200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr18:9529600-9539000	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr18:9529800-9538000	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr18:9529800-9540600	Strong transcription	Rectal Mucosa Donor 31	rectum
26	chr18:9529800-9541000	Strong transcription	Primary T cells from cord blood	blood
27	chr18:9530000-9535600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr18:9530000-9536600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr18:9530000-9536800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
30	chr18:9530000-9536800	Strong transcription	K562	blood
31	chr18:9530000-9538200	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr18:9530000-9538400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr18:9530000-9538800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr18:9530000-9540600	Strong transcription	Duodenum Mucosa	Duodenum
35	chr18:9530200-9538200	Strong transcription	Sigmoid Colon	Sigmoid Colon
36	chr18:9530200-9539000	Strong transcription	Left Ventricle	heart
37	chr18:9530200-9540600	Strong transcription	Fetal Lung	lung
38	chr18:9530200-9540800	Strong transcription	Thymus	Thymus
39	chr18:9530400-9535200	Strong transcription	Primary hematopoietic stem cells	blood
40	chr18:9530400-9536800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
41	chr18:9530600-9541200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr18:9530800-9540600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr18:9530800-9540800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr18:9530800-9541000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr18:9531200-9540400	Strong transcription	Primary B cells from cord blood	blood
46	chr18:9531400-9537200	Strong transcription	HSMMtube	muscle
47	chr18:9531400-9538000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr18:9531400-9540400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
49	chr18:9531600-9537000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr18:9531600-9540600	Strong transcription	Liver	Liver

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