Variant report

Variant	rs74095749
Chromosome Location	chr12:62803199-62803200
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:62792054..62795051-chr12:62803056..62804839,2	K562	blood:
2	chr12:62802223..62804398-chr12:62996125..62998801,2	K562	blood:
3	chr12:62802154..62805925-chr12:62805959..62810469,4	K562	blood:
4	chr12:62800166..62802965-chr12:62803094..62805711,2	K562	blood:
5	chr12:62802231..62804396-chr12:62807395..62808972,2	K562	blood:

Variant related genes	Relation type
ENSG00000199179	Chromatin interaction
ENSG00000257354	Chromatin interaction
ENSG00000135655	Chromatin interaction
ENSG00000221949	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs74095804	0.86[AFR][1000 genomes]
rs74095827	0.86[AFR][1000 genomes]
rs74095830	0.86[AFR][1000 genomes]
rs74095834	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053403	chr12:62657011-62809413	Weak transcription Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv899153	chr12:62716330-62817736	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv899154	chr12:62764909-62811328	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
5	nsv899155	chr12:62764909-62817736	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	5 gene(s)	inside rSNPs	diseases
6	nsv899156	chr12:62783967-62831343	Weak transcription Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
7	nsv899157	chr12:62783967-62843620	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Enhancers Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
8	nsv899158	chr12:62783967-62937259	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
9	nsv899159	chr12:62783967-62945245	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62763000-62805400	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr12:62767400-62807600	Weak transcription	HSMMtube	muscle
3	chr12:62769200-62805000	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr12:62769400-62809600	Weak transcription	Stomach Mucosa	stomach
5	chr12:62774800-62803200	Weak transcription	Brain Cingulate Gyrus	brain
6	chr12:62775600-62807800	Weak transcription	Aorta	Aorta
7	chr12:62783400-62803400	Weak transcription	NHEK	skin
8	chr12:62787800-62803600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr12:62791600-62807000	Weak transcription	Esophagus	oesophagus
10	chr12:62793200-62803400	Weak transcription	Rectal Smooth Muscle	rectum
11	chr12:62794200-62805800	Weak transcription	NHLF	lung
12	chr12:62796400-62805200	Weak transcription	NH-A	brain
13	chr12:62796600-62807400	Weak transcription	A549	lung
14	chr12:62797200-62803400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr12:62797400-62809200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr12:62797800-62803400	Weak transcription	Osteobl	bone
17	chr12:62798200-62806400	Weak transcription	Left Ventricle	heart
18	chr12:62798200-62807400	Weak transcription	Thymus	Thymus
19	chr12:62798400-62809400	Weak transcription	HSMM	muscle
20	chr12:62798800-62803200	Weak transcription	Fetal Lung	lung
21	chr12:62798800-62803400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr12:62799200-62803200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr12:62799200-62807200	Weak transcription	HUVEC	blood vessel
24	chr12:62799200-62809200	Weak transcription	Fetal Brain Female	brain
25	chr12:62799400-62803600	Weak transcription	Rectal Mucosa Donor 31	rectum
26	chr12:62799400-62804800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr12:62799400-62806000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr12:62799400-62806200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
29	chr12:62799400-62808600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr12:62799400-62808600	Weak transcription	HMEC	breast
31	chr12:62799400-62809000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr12:62799600-62803200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr12:62799600-62803200	Weak transcription	Fetal Intestine Large	intestine
34	chr12:62799600-62803400	Weak transcription	Hela-S3	cervix
35	chr12:62799600-62804400	Weak transcription	NHDF-Ad	bronchial
36	chr12:62799800-62806400	Weak transcription	Placenta	Placenta
37	chr12:62800800-62803600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr12:62800800-62806400	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr12:62801000-62806000	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr12:62801200-62806600	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr12:62801200-62808000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr12:62801600-62803200	Weak transcription	K562	blood
43	chr12:62801600-62804800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr12:62801800-62808000	Weak transcription	GM12878-XiMat	blood
45	chr12:62802000-62803800	Weak transcription	Primary T helper cells fromperipheralblood	blood
46	chr12:62802000-62807400	Weak transcription	Primary B cells from cord blood	blood
47	chr12:62802000-62809400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr12:62802200-62803800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr12:62802200-62805200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr12:62802200-62806400	Weak transcription	Primary hematopoietic stem cells	blood

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