Variant report

Variant	rs73595585
Chromosome Location	chr6:144940816-144940817
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144933907..144936747-chr6:144940760..144942377,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs55994018	1.00[EUR][1000 genomes]
rs57539304	1.00[EUR][1000 genomes]
rs57946365	1.00[EUR][1000 genomes]
rs58299443	1.00[EUR][1000 genomes]
rs58887858	1.00[EUR][1000 genomes]
rs59989498	0.90[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs6915534	1.00[EUR][1000 genomes]
rs73591939	1.00[EUR][1000 genomes]
rs73591971	1.00[EUR][1000 genomes]
rs73594582	1.00[EUR][1000 genomes]
rs73594595	1.00[EUR][1000 genomes]
rs73596513	1.00[EUR][1000 genomes]
rs73599519	1.00[EUR][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	nsv1015228	chr6:144780458-144989321	Strong transcription Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv538462	chr6:144780458-144989321	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	nsv1016747	chr6:144917411-145599874	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144885800-144943400	Weak transcription	Ovary	ovary
2	chr6:144908800-144947400	Weak transcription	HUVEC	blood vessel
3	chr6:144914800-144960000	Weak transcription	Lung	lung
4	chr6:144929600-144955200	Weak transcription	HepG2	liver
5	chr6:144929800-144945600	Weak transcription	Left Ventricle	heart
6	chr6:144930000-144943800	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr6:144930000-144945600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr6:144930000-144950200	Weak transcription	Primary T cells from cord blood	blood
9	chr6:144930400-144957600	Weak transcription	Primary hematopoietic stem cells	blood
10	chr6:144930600-144973000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr6:144930800-144951800	Weak transcription	Primary B cells from peripheral blood	blood
12	chr6:144930800-144957800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:144931000-144958800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:144934400-144941800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
15	chr6:144936000-144941000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr6:144938000-144941200	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr6:144938000-144941400	Enhancers	HUES48 Cell Line	embryonic stem cell
18	chr6:144938200-144941400	Enhancers	iPS-15b Cell Line	embryonic stem cell
19	chr6:144938800-144941600	Weak transcription	NHDF-Ad	bronchial
20	chr6:144939000-144945600	Weak transcription	Pancreas	Pancrea
21	chr6:144939000-144949800	Weak transcription	Primary B cells from cord blood	blood
22	chr6:144939000-144959200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr6:144939200-144945800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr6:144939400-144942800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr6:144939400-144949400	Weak transcription	HUES6 Cell Line	embryonic stem cell
26	chr6:144939800-144941000	Weak transcription	Colon Smooth Muscle	Colon
27	chr6:144940600-144945800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr6:144940800-144941000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr6:144940800-144941400	Enhancers	Fetal Heart	heart

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