Variant report

Variant	rs7979346
Chromosome Location	chr12:118517811-118517812
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	chr12:118497362..118500153-chr12:118516906..118518757,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000176871	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs4767657	0.87[ASN][1000 genomes]
rs4767658	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7315515	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7488309	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7957463	0.85[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7958110	0.82[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7964738	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7969629	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1053785	chr12:118490955-118874194	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv560389	chr12:118502467-118564087	Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv899546	chr12:118515230-118563982	Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:118500600-118535200	Weak transcription	Brain Substantia Nigra	brain
2	chr12:118500800-118518200	Weak transcription	Left Ventricle	heart
3	chr12:118500800-118526400	Weak transcription	HMEC	breast
4	chr12:118500800-118539600	Weak transcription	Placenta Amnion	Placenta Amnion
5	chr12:118500800-118539800	Weak transcription	Right Ventricle	heart
6	chr12:118500800-118540800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:118501000-118525600	Weak transcription	Fetal Brain Female	brain
8	chr12:118501000-118527400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr12:118501000-118530600	Weak transcription	Brain Angular Gyrus	brain
10	chr12:118501000-118533800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr12:118501000-118539600	Weak transcription	Psoas Muscle	Psoas
12	chr12:118501000-118540200	Weak transcription	HUVEC	blood vessel
13	chr12:118501000-118540800	Weak transcription	Muscle Satellite Cultured Cells	--
14	chr12:118501000-118540800	Weak transcription	NH-A	brain
15	chr12:118501200-118526400	Weak transcription	Small Intestine	intestine
16	chr12:118501200-118536000	Weak transcription	Right Atrium	heart
17	chr12:118501200-118540400	Weak transcription	Brain Germinal Matrix	brain
18	chr12:118501200-118540800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr12:118501200-118541000	Weak transcription	Aorta	Aorta
20	chr12:118501600-118519800	Weak transcription	Fetal Brain Male	brain
21	chr12:118501600-118540400	Weak transcription	NHLF	lung
22	chr12:118501800-118527000	Weak transcription	NHEK	skin
23	chr12:118501800-118533200	Weak transcription	Hela-S3	cervix
24	chr12:118502200-118540800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr12:118502200-118540800	Weak transcription	Brain Anterior Caudate	brain
26	chr12:118502600-118536200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
27	chr12:118503200-118519200	Weak transcription	HepG2	liver
28	chr12:118503200-118521800	Weak transcription	Stomach Mucosa	stomach
29	chr12:118503600-118520600	Strong transcription	HUES64 Cell Line	embryonic stem cell
30	chr12:118509000-118538400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:118509200-118528000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr12:118509400-118528800	Weak transcription	NHDF-Ad	bronchial
33	chr12:118510400-118518000	Weak transcription	Fetal Kidney	kidney
34	chr12:118511800-118534400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr12:118511800-118539600	Weak transcription	Pancreas	Pancrea
36	chr12:118513400-118520200	Strong transcription	H9 Cell Line	embryonic stem cell
37	chr12:118513400-118520400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr12:118513400-118520600	Strong transcription	Duodenum Mucosa	Duodenum
39	chr12:118513400-118520800	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr12:118513400-118520800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
41	chr12:118513400-118522000	Strong transcription	H1 Cell Line	embryonic stem cell
42	chr12:118513400-118523400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr12:118513400-118534200	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr12:118513600-118518600	Strong transcription	Monocytes-CD14+_RO01746	blood
45	chr12:118513600-118520400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr12:118513800-118520200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr12:118513800-118520200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr12:118513800-118520200	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr12:118514000-118520400	Strong transcription	Fetal Stomach	stomach
50	chr12:118514000-118520600	Strong transcription	Skeletal Muscle Male	skeletal muscle

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