Variant report

Variant	rs59531893
Chromosome Location	chr12:121661242-121661243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:121660603..121665110-chr12:121671733..121676729,4	K562	blood:
2	chr12:121501042..121502570-chr12:121660337..121662789,2	MCF-7	breast:
3	chr12:121654296..121656580-chr12:121660522..121663384,2	K562	blood:
4	chr12:121660136..121663309-chr12:121663557..121666409,5	MCF-7	breast:
5	chr12:121646473..121649457-chr12:121658577..121662737,5	MCF-7	breast:
6	chr12:121021041..121021897-chr12:121661173..121662030,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000135124	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs58579849	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 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	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
3	nsv1054878	chr12:121519880-121761800	Flanking Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv455729	chr12:121525591-121761800	Enhancers Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv560455	chr12:121525591-121761800	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS 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	25 gene(s)	inside rSNPs	diseases
6	nsv1050519	chr12:121552964-121756420	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
7	nsv899564	chr12:121641509-121689798	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv899565	chr12:121641509-121698785	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:121648800-121661400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr12:121648800-121666600	Weak transcription	Ovary	ovary
3	chr12:121649000-121665000	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr12:121649000-121666600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr12:121649000-121675800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr12:121649000-121676200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:121649000-121676200	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr12:121649000-121676600	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr12:121649400-121680200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr12:121652400-121675600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr12:121652600-121664800	Weak transcription	Small Intestine	intestine
12	chr12:121653200-121665000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr12:121653200-121666400	Weak transcription	Colon Smooth Muscle	Colon
14	chr12:121653200-121675600	Weak transcription	HSMMtube	muscle
15	chr12:121653200-121698800	Weak transcription	Fetal Heart	heart
16	chr12:121653400-121665000	Weak transcription	NHEK	skin
17	chr12:121653400-121673600	Weak transcription	Osteobl	bone
18	chr12:121653400-121677600	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr12:121653400-121678600	Weak transcription	Right Atrium	heart
20	chr12:121653600-121670200	Weak transcription	NHDF-Ad	bronchial
21	chr12:121654800-121675200	Strong transcription	Fetal Stomach	stomach
22	chr12:121655200-121678000	Weak transcription	Fetal Kidney	kidney
23	chr12:121655400-121667400	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr12:121655400-121667800	Weak transcription	A549	lung
25	chr12:121656000-121666600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:121656600-121666600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr12:121657000-121671600	Weak transcription	HUVEC	blood vessel
28	chr12:121657000-121676200	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr12:121657200-121661400	Weak transcription	Rectal Smooth Muscle	rectum
30	chr12:121657200-121664400	Strong transcription	Fetal Intestine Small	intestine
31	chr12:121657200-121665000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr12:121657200-121666400	Weak transcription	Brain Substantia Nigra	brain
33	chr12:121658200-121662000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr12:121658200-121673600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr12:121658400-121662000	Strong transcription	Liver	Liver
36	chr12:121658600-121662000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr12:121658800-121662000	Strong transcription	Lung	lung
38	chr12:121658800-121671600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr12:121659400-121661800	Strong transcription	Right Ventricle	heart
40	chr12:121659400-121662200	Strong transcription	Fetal Muscle Trunk	muscle
41	chr12:121659400-121662200	Strong transcription	Stomach Smooth Muscle	stomach
42	chr12:121659400-121667600	Strong transcription	Fetal Muscle Leg	muscle
43	chr12:121659600-121662000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr12:121659600-121662000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr12:121659600-121662200	Strong transcription	Pancreas	Pancrea
46	chr12:121659600-121665200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr12:121659800-121662200	Genic enhancers	Rectal Mucosa Donor 31	rectum
48	chr12:121659800-121662600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr12:121660000-121661400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
50	chr12:121660000-121662200	Genic enhancers	Sigmoid Colon	Sigmoid Colon

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