Variant report

Variant	rs61953353
Chromosome Location	chr12:121475529-121475530
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	chr12:121473524..121476101-chr12:121524769..121527497,2	K562	blood:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs10849835	0.88[EUR][1000 genomes]
rs10849836	0.88[EUR][1000 genomes]
rs12425790	0.80[AMR][1000 genomes]
rs12426433	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs34565150	0.80[AMR][1000 genomes]
rs55805582	0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55834942	0.80[AMR][1000 genomes]
rs61953352	0.80[AMR][1000 genomes]
rs7965349	0.90[AMR][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	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
7	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
8	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
9	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
10	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
11	esv3421024	chr12:121471004-121493702	Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121454400-121475800	Weak transcription	Adipose Nuclei	Adipose
2	chr12:121454400-121476000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr12:121454400-121476400	Weak transcription	Right Atrium	heart
4	chr12:121454600-121476200	Weak transcription	Brain Hippocampus Middle	brain
5	chr12:121454600-121476200	Weak transcription	Gastric	stomach
6	chr12:121470200-121476200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr12:121470400-121476200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
8	chr12:121471000-121476000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr12:121471600-121476000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr12:121471600-121476200	Weak transcription	Colonic Mucosa	Colon
11	chr12:121472200-121476400	Weak transcription	Esophagus	oesophagus
12	chr12:121472600-121476000	Enhancers	Primary T helper cells fromperipheralblood	blood
13	chr12:121472800-121476000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
14	chr12:121472800-121476200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr12:121472800-121476200	Weak transcription	A549	lung
16	chr12:121473000-121476200	Weak transcription	Dnd41	blood
17	chr12:121473000-121476400	Weak transcription	Aorta	Aorta
18	chr12:121473000-121476600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr12:121473200-121475800	Weak transcription	Rectal Mucosa Donor 29	rectum
20	chr12:121473200-121476200	Weak transcription	Fetal Thymus	thymus
21	chr12:121473400-121476200	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr12:121473600-121476400	Weak transcription	Lung	lung
23	chr12:121473800-121476400	Weak transcription	Primary hematopoietic stem cells	blood
24	chr12:121474000-121476000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:121474000-121476000	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr12:121474000-121476000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr12:121474200-121475600	Enhancers	Spleen	Spleen
28	chr12:121474400-121476200	Enhancers	Primary T cells from cord blood	blood
29	chr12:121474800-121476000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr12:121474800-121476000	Enhancers	Liver	Liver
31	chr12:121474800-121476200	Weak transcription	Primary B cells from cord blood	blood
32	chr12:121474800-121476200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
33	chr12:121475000-121476200	Weak transcription	Brain Anterior Caudate	brain
34	chr12:121475000-121476400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr12:121475000-121476600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr12:121475200-121475600	Enhancers	Primary T cells fromperipheralblood	blood
37	chr12:121475200-121475600	Enhancers	GM12878-XiMat	blood
38	chr12:121475200-121475800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr12:121475200-121475800	Enhancers	Primary T helper cells PMA-I stimulated	--
40	chr12:121475200-121475800	Weak transcription	Stomach Mucosa	stomach
41	chr12:121475200-121476000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr12:121475200-121476000	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr12:121475200-121476000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr12:121475200-121476000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr12:121475200-121476200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr12:121475200-121476200	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr12:121475200-121476200	Weak transcription	Small Intestine	intestine
48	chr12:121475200-121476200	Weak transcription	NHDF-Ad	bronchial
49	chr12:121475200-121476200	Weak transcription	NHEK	skin
50	chr12:121475200-121476200	Weak transcription	Osteobl	bone

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