Variant report

Variant	rs1247518
Chromosome Location	chr6:161305051-161305052
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA3	chr6:161304870-161305177	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:161303689..161305703-chr6:161311421..161313341,2	K562	blood:
2	chr6:161302774..161305186-chr6:161411320..161413966,2	K562	blood:

Variant related genes	Relation type
ENSG00000224371	TF binding region
ENSG00000085511	Chromatin interaction
ENSG00000272841	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1247516	0.92[AFR][1000 genomes];0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1247517	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1781518	0.89[ASN][1000 genomes]
rs1835345	0.94[CHB][hapmap]
rs9355840	0.95[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3352911	chr6:161140543-161324358	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv830853	chr6:161180005-161376481	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	esv2422347	chr6:161211171-161442377	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1837673	chr6:161216608-161318009	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:161296000-161313000	Weak transcription	Right Atrium	heart
2	chr6:161298200-161305200	Weak transcription	Pancreas	Pancrea
3	chr6:161302400-161306200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
4	chr6:161302800-161316600	Weak transcription	Ovary	ovary
5	chr6:161303600-161306000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr6:161303600-161307200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr6:161303800-161305400	Enhancers	H9 Cell Line	embryonic stem cell
8	chr6:161303800-161305600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
9	chr6:161303800-161305600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr6:161303800-161306200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:161304200-161305400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr6:161304200-161305600	Enhancers	H1 Cell Line	embryonic stem cell
13	chr6:161304200-161306400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
14	chr6:161304400-161305400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr6:161304400-161305400	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
16	chr6:161304400-161306200	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
17	chr6:161304400-161306800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
18	chr6:161304600-161305200	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr6:161304800-161305600	Weak transcription	Brain Germinal Matrix	brain
20	chr6:161304800-161305800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr6:161304800-161306000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr6:161305000-161305200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:161305000-161305400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr6:161305000-161305400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr6:161305000-161305400	Enhancers	Placenta	Placenta
26	chr6:161305000-161305600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell

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