Variant report

Variant	rs74112464
Chromosome Location	chr12:76060692-76060693
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:76059625..76062519-chr12:76062834..76067241,4	K562	blood:
2	chr12:76059921..76060707-chr7:2091048..2091891,2	HCT-116	colon:

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

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11180652	1.00[EUR][1000 genomes]
rs12299593	1.00[EUR][1000 genomes]
rs12302680	1.00[EUR][1000 genomes]
rs12303983	1.00[EUR][1000 genomes]
rs12304347	1.00[EUR][1000 genomes]
rs12322226	1.00[EUR][1000 genomes]
rs17115466	1.00[EUR][1000 genomes]
rs17115477	1.00[EUR][1000 genomes]
rs28733031	1.00[EUR][1000 genomes]
rs9805125	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv492067	chr12:75415458-76077537	Flanking Active TSS Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1036987	chr12:75415532-76101559	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1040583	chr12:75742802-76360276	Enhancers Genic enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv948653	chr12:75773464-76220618	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76045000-76064400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr12:76054200-76060800	Weak transcription	Fetal Kidney	kidney
3	chr12:76056600-76064800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr12:76057600-76060800	Weak transcription	Fetal Stomach	stomach
5	chr12:76058400-76061400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr12:76058600-76061200	Enhancers	NHEK	skin
7	chr12:76058600-76061600	Enhancers	NH-A	brain
8	chr12:76058800-76061400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr12:76058800-76061600	Enhancers	Liver	Liver
10	chr12:76059000-76061000	Enhancers	A549	lung
11	chr12:76059200-76061200	Enhancers	iPS-18 Cell Line	embryonic stem cell
12	chr12:76059200-76061200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr12:76059200-76061200	Enhancers	HMEC	breast
14	chr12:76059200-76061200	Enhancers	Osteobl	bone
15	chr12:76059200-76061400	Enhancers	NHDF-Ad	bronchial
16	chr12:76059200-76061800	Enhancers	Fetal Intestine Small	intestine
17	chr12:76059400-76061400	Enhancers	HSMMtube	muscle
18	chr12:76059400-76061600	Enhancers	NHLF	lung
19	chr12:76059600-76061000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:76059600-76061200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr12:76059600-76061200	Enhancers	Fetal Intestine Large	intestine
22	chr12:76059600-76061400	Enhancers	Muscle Satellite Cultured Cells	--
23	chr12:76059600-76061400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:76059600-76061800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr12:76059800-76061400	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr12:76059800-76061400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr12:76059800-76061800	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr12:76059800-76065800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr12:76060000-76060800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr12:76060000-76060800	Enhancers	Colonic Mucosa	Colon
31	chr12:76060000-76061000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr12:76060000-76061000	Enhancers	Pancreas	Pancrea
33	chr12:76060000-76061200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:76060000-76061200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr12:76060000-76061400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr12:76060000-76061400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr12:76060000-76061400	Enhancers	Rectal Mucosa Donor 31	rectum
38	chr12:76060000-76061600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
39	chr12:76060000-76062600	Enhancers	Stomach Mucosa	stomach
40	chr12:76060200-76061200	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr12:76060200-76061400	Enhancers	HUES64 Cell Line	embryonic stem cell
42	chr12:76060400-76061600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr12:76060600-76060800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr12:76060600-76060800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr12:76060600-76061000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr12:76060600-76061000	Enhancers	Fetal Muscle Leg	muscle
47	chr12:76060600-76061000	Enhancers	HSMM	muscle
48	chr12:76060600-76061000	Enhancers	HUVEC	blood vessel
49	chr12:76060600-76061200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr12:76060600-76061200	Enhancers	HUES48 Cell Line	embryonic stem cell

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