Variant report

Variant	rs56398871
Chromosome Location	chr6:140239785-140239786
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:140239712..140241213-chr6:140248206..140250375,2	K562	blood:
2	chr6:140238724..140241294-chr6:140241796..140244314,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs73775689	1.00[EUR][1000 genomes]
rs73775694	1.00[EUR][1000 genomes]
rs73778077	1.00[EUR][1000 genomes]
rs73778079	1.00[EUR][1000 genomes]
rs73778080	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73778087	1.00[EUR][1000 genomes]
rs73778088	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869066	chr6:139777114-140639695	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
2	nsv830820	chr6:140059279-140255292	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
3	nsv1017015	chr6:140084137-140300565	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv1019407	chr6:140087307-140304334	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1016532	chr6:140174639-141029988	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:140227000-140247600	Weak transcription	Small Intestine	intestine
2	chr6:140238600-140239800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr6:140238600-140242400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr6:140238600-140242400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr6:140239000-140239800	Enhancers	iPS-20b Cell Line	embryonic stem cell
6	chr6:140239000-140239800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr6:140239000-140239800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:140239000-140240000	Enhancers	iPS-18 Cell Line	embryonic stem cell
9	chr6:140239000-140241000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr6:140239000-140241800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr6:140239000-140242200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr6:140239200-140239800	Active TSS	Colon Smooth Muscle	Colon
13	chr6:140239200-140240000	Active TSS	Stomach Smooth Muscle	stomach
14	chr6:140239200-140240400	Enhancers	Monocytes-CD14+_RO01746	blood
15	chr6:140239200-140242200	Enhancers	K562	blood
16	chr6:140239200-140242400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr6:140239400-140239800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr6:140239400-140239800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr6:140239400-140239800	Active TSS	Duodenum Smooth Muscle	Duodenum
20	chr6:140239400-140239800	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr6:140239400-140240000	Active TSS	NHDF-Ad	bronchial
22	chr6:140239400-140240800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr6:140239600-140239800	Flanking Active TSS	Fetal Lung	lung
24	chr6:140239600-140240200	Enhancers	Fetal Brain Male	brain
25	chr6:140239600-140240200	Weak transcription	Fetal Heart	heart
26	chr6:140239600-140240400	Weak transcription	Placenta	Placenta
27	chr6:140239600-140240600	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr6:140239600-140240600	Weak transcription	Brain Germinal Matrix	brain
29	chr6:140239600-140241200	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr6:140239600-140241200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr6:140239600-140241200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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