Variant report

Variant	rs74109651
Chromosome Location	chr12:76117776-76117777
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:76090412..76092067-chr12:76116200..76118127,2	MCF-7	breast:
2	chr12:76096760..76101934-chr12:76112737..76117926,8	MCF-7	breast:
3	chr12:76111051..76121376-chr12:76416110..76428653,27	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257453	Chromatin interaction
ENSG00000257839	Chromatin interaction
ENSG00000139289	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs74109660	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:76113200-76118000	Enhancers	HUES64 Cell Line	embryonic stem cell
2	chr12:76113600-76117800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr12:76113600-76118800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr12:76113600-76120000	Enhancers	Fetal Stomach	stomach
5	chr12:76113600-76120200	Enhancers	Rectal Smooth Muscle	rectum
6	chr12:76114000-76117800	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr12:76114000-76118800	Weak transcription	Esophagus	oesophagus
8	chr12:76114000-76119800	Enhancers	Fetal Muscle Leg	muscle
9	chr12:76114000-76120000	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr12:76114200-76119200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
11	chr12:76114200-76119800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr12:76114200-76120200	Enhancers	NHLF	lung
13	chr12:76114400-76119600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr12:76114400-76121200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr12:76114600-76117800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr12:76114600-76117800	Enhancers	Small Intestine	intestine
17	chr12:76114600-76118400	Enhancers	Muscle Satellite Cultured Cells	--
18	chr12:76114600-76118400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr12:76114600-76118600	Enhancers	NHDF-Ad	bronchial
20	chr12:76114600-76120000	Enhancers	NH-A	brain
21	chr12:76114600-76120200	Enhancers	HUVEC	blood vessel
22	chr12:76115000-76118200	Weak transcription	Fetal Muscle Trunk	muscle
23	chr12:76115200-76120000	Enhancers	HMEC	breast
24	chr12:76115400-76118800	Weak transcription	Ovary	ovary
25	chr12:76115400-76121200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr12:76115600-76118800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:76115600-76118800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr12:76115800-76117800	Weak transcription	Aorta	Aorta
29	chr12:76115800-76118600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr12:76115800-76120000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr12:76115800-76121000	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr12:76116200-76118400	Weak transcription	Left Ventricle	heart
33	chr12:76116400-76118600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr12:76116400-76118600	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr12:76116600-76119400	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr12:76116600-76120000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr12:76116800-76118800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr12:76117000-76117800	Enhancers	A549	lung
39	chr12:76117000-76118000	Weak transcription	Fetal Brain Male	brain
40	chr12:76117000-76118400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr12:76117000-76118400	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr12:76117000-76118600	Weak transcription	Fetal Heart	heart
43	chr12:76117000-76118800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chr12:76117200-76117800	Enhancers	Dnd41	blood
45	chr12:76117200-76118400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr12:76117200-76118400	Weak transcription	K562	blood
47	chr12:76117200-76119400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr12:76117400-76118400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr12:76117400-76118400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr12:76117400-76118400	Weak transcription	Adipose Nuclei	Adipose

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