Variant report

Variant	rs6685578
Chromosome Location	chr1:169535353-169535354
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	chr1:169529558..169531629-chr1:169534485..169537061,2	K562	blood:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10753787	0.90[ASN][1000 genomes]
rs10800457	0.93[ASN][1000 genomes]
rs1894697	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1894698	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1894699	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1981491	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2040443	0.82[ASN][1000 genomes]
rs2187955	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2239853	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3753305	0.93[ASN][1000 genomes]
rs4656188	0.99[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4656688	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4656689	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6427202	0.90[ASN][1000 genomes]
rs6670678	0.93[ASN][1000 genomes]
rs6678795	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7540556	0.90[ASN][1000 genomes]
rs7548857	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs760694	0.86[AMR][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	esv10418	chr1:169059628-169621268	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv548187	chr1:169530837-169559035	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
3	nsv872534	chr1:169533266-169561274	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 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	chr1:169506200-169542800	Weak transcription	Right Ventricle	heart
2	chr1:169524600-169541800	Weak transcription	Placenta	Placenta
3	chr1:169530200-169535400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr1:169530200-169539000	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:169533200-169551600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:169533400-169544600	Enhancers	Stomach Mucosa	stomach
7	chr1:169534000-169541400	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr1:169534200-169537000	Genic enhancers	HepG2	liver
9	chr1:169534400-169536000	Enhancers	Duodenum Mucosa	Duodenum
10	chr1:169534600-169535800	Enhancers	HUVEC	blood vessel
11	chr1:169534600-169537400	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr1:169534800-169535400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:169534800-169535400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr1:169534800-169535600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
15	chr1:169534800-169535600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:169534800-169535600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:169534800-169535600	Enhancers	Dnd41	blood
18	chr1:169534800-169535800	Enhancers	Primary T helper cells PMA-I stimulated	--
19	chr1:169534800-169535800	Enhancers	NHEK	skin
20	chr1:169534800-169538800	Enhancers	Liver	Liver
21	chr1:169535000-169535600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr1:169535000-169535600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:169535000-169535600	Enhancers	Thymus	Thymus
24	chr1:169535000-169535800	Enhancers	Fetal Kidney	kidney
25	chr1:169535000-169535800	Enhancers	HMEC	breast
26	chr1:169535200-169535600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr1:169535200-169535600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr1:169535200-169535800	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr1:169535200-169535800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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