Variant report

Variant	rs12231806
Chromosome Location	chr12:121462157-121462158
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121454608..121456254-chr12:121460515..121463475,3	K562	blood:
2	chr12:121462116..121464172-chr12:121497468..121500006,2	MCF-7	breast:
3	chr12:121455739..121458547-chr12:121462154..121463997,2	MCF-7	breast:
4	chr12:121452643..121457408-chr12:121461392..121466070,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000157895	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11065386	0.85[ASN][1000 genomes]
rs11065388	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11065390	0.96[ASN][1000 genomes]
rs11065394	0.98[ASN][1000 genomes]
rs12296113	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12309537	0.96[ASN][1000 genomes]
rs2071190	0.93[ASN][1000 genomes]
rs3213546	0.84[ASN][1000 genomes]
rs3751150	0.84[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3751151	0.98[ASN][1000 genomes]
rs4403877	0.80[ASN][1000 genomes]
rs56097722	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7134141	0.95[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7296897	0.89[ASN][1000 genomes]
rs7969063	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv521928	chr12:121041728-121761800	Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
2	nsv899559	chr12:121324727-121592689	Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv899560	chr12:121371233-121560581	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
4	nsv899561	chr12:121376416-121525591	Enhancers Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv899562	chr12:121376416-121565870	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1037195	chr12:121408540-121470375	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
7	esv2758318	chr12:121415845-121584813	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
8	esv2759917	chr12:121415845-121584813	Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
9	nsv1039216	chr12:121421701-121538491	Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv832531	chr12:121440495-121604232	Flanking Active TSS Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
11	nsv560454	chr12:121457073-121745742	Strong transcription Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats 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	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121454400-121462600	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr12:121454400-121463200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr12:121454400-121463200	Weak transcription	Small Intestine	intestine
4	chr12:121454400-121463600	Weak transcription	Lung	lung
5	chr12:121454400-121464800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr12:121454400-121471600	Weak transcription	GM12878-XiMat	blood
7	chr12:121454400-121472200	Weak transcription	Primary T cells from cord blood	blood
8	chr12:121454400-121475800	Weak transcription	Adipose Nuclei	Adipose
9	chr12:121454400-121476000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr12:121454400-121476400	Weak transcription	Right Atrium	heart
11	chr12:121454600-121462400	Weak transcription	Rectal Mucosa Donor 31	rectum
12	chr12:121454600-121463400	Weak transcription	Hela-S3	cervix
13	chr12:121454600-121463800	Weak transcription	Colonic Mucosa	Colon
14	chr12:121454600-121470200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
15	chr12:121454600-121471000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr12:121454600-121471000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr12:121454600-121471200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr12:121454600-121471600	Weak transcription	Fetal Thymus	thymus
19	chr12:121454600-121476200	Weak transcription	Brain Hippocampus Middle	brain
20	chr12:121454600-121476200	Weak transcription	Gastric	stomach
21	chr12:121454800-121470400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr12:121454800-121471000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
23	chr12:121457600-121466000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr12:121458800-121463200	Enhancers	HepG2	liver
25	chr12:121458800-121464000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
26	chr12:121458800-121465200	Enhancers	Liver	Liver
27	chr12:121459000-121463800	Weak transcription	K562	blood
28	chr12:121459000-121464600	Weak transcription	Spleen	Spleen
29	chr12:121460000-121471400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:121460200-121466400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr12:121460200-121467600	Weak transcription	Thymus	Thymus
32	chr12:121460600-121466000	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr12:121460800-121462200	Genic enhancers	Stomach Mucosa	stomach
34	chr12:121461400-121462200	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr12:121461600-121462200	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chr12:121461600-121462200	Strong transcription	Primary T helper cells fromperipheralblood	blood
37	chr12:121461600-121464000	Enhancers	Primary neutrophils fromperipheralblood	blood
38	chr12:121461800-121462200	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr12:121461800-121464800	Enhancers	Fetal Intestine Small	intestine
40	chr12:121462000-121462600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:121462000-121464200	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr12:121462000-121464600	Enhancers	Fetal Intestine Large	intestine

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