Variant report

Variant	rs9375793
Chromosome Location	chr6:131319283-131319284
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	chr6:131315063..131319748-chr6:131319876..131324209,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000079819	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12660246	1.00[EUR][1000 genomes]
rs12664060	1.00[EUR][1000 genomes]
rs17060099	1.00[EUR][1000 genomes]
rs3777469	1.00[EUR][1000 genomes]
rs3777470	1.00[EUR][1000 genomes]
rs3777471	1.00[EUR][1000 genomes]
rs9375802	1.00[EUR][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	nsv1032955	chr6:131298803-131818502	Active TSS Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538443	chr6:131298803-131818502	Active TSS Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:131306800-131320000	Weak transcription	Left Ventricle	heart
2	chr6:131312600-131321800	Weak transcription	Skeletal Muscle Male	skeletal muscle
3	chr6:131314800-131322200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr6:131314800-131325000	Weak transcription	Fetal Muscle Trunk	muscle
5	chr6:131315200-131321400	Weak transcription	Duodenum Mucosa	Duodenum
6	chr6:131315400-131320000	Weak transcription	Right Ventricle	heart
7	chr6:131315600-131321800	Weak transcription	Pancreas	Pancrea
8	chr6:131315800-131320000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:131315800-131321400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
10	chr6:131315800-131321800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr6:131315800-131321800	Weak transcription	Lung	lung
12	chr6:131315800-131323200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr6:131315800-131325800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:131316800-131322200	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr6:131317400-131319400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr6:131317400-131321600	Weak transcription	Stomach Mucosa	stomach
17	chr6:131317400-131322200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr6:131317600-131320000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr6:131317600-131321400	Weak transcription	Fetal Intestine Large	intestine
20	chr6:131317600-131321800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr6:131317600-131321800	Weak transcription	Placenta	Placenta
22	chr6:131317600-131322200	Weak transcription	HMEC	breast
23	chr6:131317600-131322400	Weak transcription	Gastric	stomach
24	chr6:131317600-131323200	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr6:131318000-131321800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr6:131318200-131319400	Enhancers	iPS-20b Cell Line	embryonic stem cell
27	chr6:131318200-131322200	Weak transcription	NHEK	skin
28	chr6:131318400-131319600	Enhancers	ES-WA7 Cell Line	embryonic stem cell
29	chr6:131318400-131321600	Weak transcription	Fetal Intestine Small	intestine
30	chr6:131318600-131322200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr6:131318800-131319600	Enhancers	ES-I3 Cell Line	embryonic stem cell
32	chr6:131318800-131319800	Enhancers	HUES64 Cell Line	embryonic stem cell
33	chr6:131318800-131319800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr6:131318800-131319800	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr6:131318800-131320000	Weak transcription	Psoas Muscle	Psoas
36	chr6:131318800-131321000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:131318800-131321000	Enhancers	HUES6 Cell Line	embryonic stem cell
38	chr6:131318800-131321400	Weak transcription	NHLF	lung
39	chr6:131318800-131321600	Weak transcription	Fetal Heart	heart
40	chr6:131318800-131321600	Weak transcription	Fetal Muscle Leg	muscle
41	chr6:131318800-131321800	Weak transcription	HSMMtube	muscle
42	chr6:131318800-131325800	Weak transcription	Fetal Thymus	thymus
43	chr6:131318800-131328000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:131318800-131329200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr6:131319000-131319400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr6:131319000-131319400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr6:131319000-131319600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr6:131319000-131319600	Enhancers	HUES48 Cell Line	embryonic stem cell
49	chr6:131319000-131319600	Enhancers	Brain Angular Gyrus	brain
50	chr6:131319000-131319600	Enhancers	Brain Anterior Caudate	brain

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