Variant report

Variant	rs2785610
Chromosome Location	chr1:93508182-93508183
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	chr1:93507541..93509653-chr1:93511685..93513516,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2243717	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2448417	0.83[ASN][1000 genomes]
rs2492901	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2785609	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2815416	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs966038	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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	nsv1008602	chr1:93176811-93640808	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv830614	chr1:93465978-93678700	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv870775	chr1:93481640-93543119	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:93507400-93508600	Flanking Active TSS	Dnd41	blood
2	chr1:93507400-93508600	Flanking Active TSS	GM12878-XiMat	blood
3	chr1:93507600-93508200	Enhancers	Fetal Intestine Small	intestine
4	chr1:93507600-93508400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr1:93507600-93508400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
6	chr1:93507600-93508600	Flanking Active TSS	Primary B cells from peripheral blood	blood
7	chr1:93507600-93508600	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr1:93507600-93508600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
9	chr1:93507600-93508600	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
10	chr1:93507600-93508600	Active TSS	Colonic Mucosa	Colon
11	chr1:93507600-93508600	Active TSS	Fetal Intestine Large	intestine
12	chr1:93507600-93508800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
13	chr1:93507600-93508800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:93507600-93508800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
15	chr1:93507600-93508800	Flanking Active TSS	Liver	Liver
16	chr1:93507600-93508800	Active TSS	Duodenum Mucosa	Duodenum
17	chr1:93507800-93508200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr1:93507800-93508200	Enhancers	Primary B cells from cord blood	blood
19	chr1:93507800-93508200	Active TSS	HepG2	liver
20	chr1:93507800-93508400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr1:93507800-93508400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr1:93507800-93508400	Flanking Active TSS	Thymus	Thymus
23	chr1:93507800-93508400	Enhancers	A549	lung
24	chr1:93507800-93508600	Enhancers	Stomach Mucosa	stomach
25	chr1:93507800-93508600	Active TSS	Monocytes-CD14+_RO01746	blood
26	chr1:93508000-93508200	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr1:93508000-93508200	Enhancers	Fetal Thymus	thymus
28	chr1:93508000-93508400	Active TSS	Primary monocytes fromperipheralblood	blood
29	chr1:93508000-93508400	Active TSS	Primary T cells fromperipheralblood	blood
30	chr1:93508000-93508400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
31	chr1:93508000-93508400	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr1:93508000-93508400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr1:93508000-93508400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
34	chr1:93508000-93508400	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
35	chr1:93508000-93508400	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr1:93508000-93508400	Active TSS	Sigmoid Colon	Sigmoid Colon
37	chr1:93508000-93508400	Active TSS	Osteobl	bone
38	chr1:93508000-93508600	Active TSS	Rectal Mucosa Donor 29	rectum
39	chr1:93508000-93508600	Active TSS	K562	blood
40	chr1:93508000-93508800	Active TSS	Rectal Mucosa Donor 31	rectum
41	chr1:93508000-93508800	Active TSS	Rectal Smooth Muscle	rectum

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