Variant report

Variant	rs12193708
Chromosome Location	chr6:37747859-37747860
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:37746514..37749861-chr6:37785177..37789437,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000225945	Chromatin interaction
ENSG00000156639	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12207050	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13198558	0.82[ASN][1000 genomes]
rs34054193	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs36077256	0.81[ASN][1000 genomes]
rs6929224	0.81[ASN][1000 genomes]
rs7752617	0.93[ASN][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	nsv1028825	chr6:37495154-38278320	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
2	nsv1024016	chr6:37567651-37981590	Weak transcription Enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:37731600-37751000	Weak transcription	Psoas Muscle	Psoas
2	chr6:37740800-37750400	Weak transcription	Fetal Brain Male	brain
3	chr6:37742400-37750800	Weak transcription	Liver	Liver
4	chr6:37744000-37748400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
5	chr6:37744000-37748600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr6:37744200-37748200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:37744400-37748600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr6:37744400-37750800	Weak transcription	Right Atrium	heart
9	chr6:37744800-37749200	Enhancers	GM12878-XiMat	blood
10	chr6:37745000-37748200	Bivalent Enhancer	ES-I3 Cell Line	embryonic stem cell
11	chr6:37746400-37748400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr6:37746600-37748000	Enhancers	Brain Germinal Matrix	brain
13	chr6:37746600-37748400	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr6:37746600-37748600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr6:37746800-37748000	Enhancers	Duodenum Mucosa	Duodenum
16	chr6:37746800-37748200	Enhancers	NHDF-Ad	bronchial
17	chr6:37746800-37748600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr6:37747000-37748400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr6:37747000-37748400	Enhancers	iPS-18 Cell Line	embryonic stem cell
20	chr6:37747000-37748600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:37747000-37748600	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr6:37747000-37750800	Weak transcription	HSMMtube	muscle
23	chr6:37747200-37748000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr6:37747200-37748000	Enhancers	iPS-20b Cell Line	embryonic stem cell
25	chr6:37747200-37748200	Enhancers	ES-WA7 Cell Line	embryonic stem cell
26	chr6:37747200-37748400	Enhancers	iPS-15b Cell Line	embryonic stem cell
27	chr6:37747200-37748600	Enhancers	Cortex derived primary cultured neurospheres	brain
28	chr6:37747200-37750600	Weak transcription	Fetal Brain Female	brain
29	chr6:37747400-37748600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr6:37747400-37750800	Weak transcription	Pancreas	Pancrea
31	chr6:37747400-37751000	Weak transcription	HSMM	muscle
32	chr6:37747600-37748600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr6:37747800-37748000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr6:37747800-37748000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr6:37747800-37750800	Weak transcription	NHLF	lung
36	chr6:37747800-37751000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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