Variant report

Variant	rs12080400
Chromosome Location	chr1:160508502-160508503
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:160504989..160507235-chr1:160508336..160510301,3	K562	blood:
2	chr1:160504989..160508149-chr1:160508233..160510103,3	K562	blood:
3	chr1:160464006..160466333-chr1:160508326..160511280,2	K562	blood:
4	chr1:160508215..160510935-chr1:160554435..160555982,2	K562	blood:

Variant related genes	Relation type
ENSG00000234425	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11265420	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11265427	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11265429	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11265430	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11265435	1.00[AMR][1000 genomes]
rs11486168	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12062138	1.00[AMR][1000 genomes]
rs12062516	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12064709	1.00[AMR][1000 genomes]
rs12072092	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12078173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12081008	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12093289	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12097429	1.00[AMR][1000 genomes]
rs56027103	1.00[AMR][1000 genomes]
rs56934040	1.00[AMR][1000 genomes]
rs61702023	1.00[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	esv1829614	chr1:160465291-160595000	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv872491	chr1:160470258-160580549	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv831703	chr1:160496124-160643024	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 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	chr1:160506200-160508600	Weak transcription	Monocytes-CD14+_RO01746	blood
2	chr1:160506200-160511400	Weak transcription	Small Intestine	intestine
3	chr1:160507000-160508600	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr1:160507200-160508600	Weak transcription	Stomach Mucosa	stomach
5	chr1:160507600-160515400	Enhancers	Fetal Intestine Large	intestine
6	chr1:160507800-160508800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr1:160507800-160509600	Enhancers	Thymus	Thymus
8	chr1:160507800-160509800	Enhancers	Primary T cells fromperipheralblood	blood
9	chr1:160507800-160509800	Enhancers	Primary hematopoietic stem cells short term culture	blood
10	chr1:160507800-160515400	Enhancers	Fetal Intestine Small	intestine
11	chr1:160508200-160509600	Enhancers	Fetal Thymus	thymus
12	chr1:160508400-160508600	Active TSS	Duodenum Mucosa	Duodenum
13	chr1:160508400-160508600	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr1:160508400-160508600	Enhancers	Dnd41	blood
15	chr1:160508400-160508600	Enhancers	HepG2	liver
16	chr1:160508400-160508600	Genic enhancers	K562	blood
17	chr1:160508400-160509000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:160508400-160509200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
19	chr1:160508400-160509400	Enhancers	HMEC	breast
20	chr1:160508400-160509600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr1:160508400-160510000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr1:160508400-160511800	Enhancers	Pancreas	Pancrea
23	chr1:160508400-160512000	Enhancers	Primary B cells from peripheral blood	blood
24	chr1:160508400-160512000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
25	chr1:160508400-160512600	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:160508400-160513200	Enhancers	Primary hematopoietic stem cells	blood

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