Variant report

Variant	rs287985
Chromosome Location	chr2:9984598-9984599
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:9983066..9987186-chr2:10091615..10095343,4	MCF-7	breast:
2	chr2:9981740..9985209-chr2:10182518..10185707,4	K562	blood:
3	chr2:9984016..9986818-chr2:10112280..10114129,2	MCF-7	breast:
4	chr2:9981933..9984802-chr2:10182812..10185710,3	K562	blood:
5	chr2:9983867..9985746-chr2:9987128..9988771,2	K562	blood:
6	chr2:9983297..9984997-chr2:10260468..10262228,2	K562	blood:
7	chr2:9984123..9986772-chr2:10086772..10088957,2	K562	blood:
8	chr2:9982271..9986804-chr2:10090021..10093067,7	K562	blood:
9	chr2:9982517..9985169-chr2:10586715..10588876,2	K562	blood:
10	chr2:9983691..9985832-chr2:10083772..10085914,3	MCF-7	breast:
11	chr2:9983262..9985223-chr2:10260728..10263822,3	K562	blood:
12	chr2:9982092..9985559-chr2:10088577..10093200,6	MCF-7	breast:
13	chr2:9982271..9985181-chr2:10090033..10093358,4	K562	blood:
14	chr2:9936512..9939080-chr2:9983882..9985731,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000257135	Chromatin interaction
ENSG00000206633	Chromatin interaction
ENSG00000172059	Chromatin interaction
ENSG00000115758	Chromatin interaction
ENSG00000272524	Chromatin interaction
ENSG00000134317	Chromatin interaction
ENSG00000171848	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1652684	0.87[AMR][1000 genomes]
rs287998	1.00[CEU][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs288000	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes]
rs385513	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs386006	1.00[CEU][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs393281	0.85[AFR][1000 genomes]
rs394952	0.82[AFR][1000 genomes]
rs396416	0.87[AMR][1000 genomes]
rs403303	0.81[AFR][1000 genomes]
rs406546	0.85[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs419453	0.88[AFR][1000 genomes]
rs446907	0.81[AFR][1000 genomes]
rs448327	0.88[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003026	chr2:9854939-10012516	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	nsv1013969	chr2:9888703-10023951	Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
3	nsv948591	chr2:9922257-10141191	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
4	nsv873628	chr2:9949464-9985670	Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
5	nsv873629	chr2:9949464-10016627	Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
6	nsv873630	chr2:9953949-10030024	Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases
7	nsv873631	chr2:9975557-10059770	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
8	esv1843231	chr2:9979766-10141191	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:9982800-9984600	Active TSS	iPS-18 Cell Line	embryonic stem cell
2	chr2:9982800-9984600	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr2:9982800-9984600	Active TSS	K562	blood
4	chr2:9982800-9984600	Active TSS	NH-A	brain
5	chr2:9982800-9984800	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr2:9982800-9984800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr2:9982800-9984800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr2:9982800-9985200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr2:9982800-9985200	Active TSS	Rectal Mucosa Donor 29	rectum
10	chr2:9983000-9984600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr2:9983000-9984600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:9983000-9984600	Active TSS	HUES64 Cell Line	embryonic stem cell
13	chr2:9983000-9984600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr2:9983000-9984600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
15	chr2:9983000-9984600	Active TSS	Esophagus	oesophagus
16	chr2:9983000-9984600	Active TSS	Fetal Kidney	kidney
17	chr2:9983000-9984600	Active TSS	Pancreatic Islets	Pancreatic Islet
18	chr2:9983000-9984600	Active TSS	Gastric	stomach
19	chr2:9983000-9984600	Active TSS	HSMM	muscle
20	chr2:9983000-9984800	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:9983000-9984800	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr2:9983000-9984800	Active TSS	Muscle Satellite Cultured Cells	--
23	chr2:9983000-9984800	Active TSS	Fetal Stomach	stomach
24	chr2:9983000-9984800	Active TSS	Right Atrium	heart
25	chr2:9983000-9985000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr2:9983000-9985000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr2:9983000-9985000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr2:9983000-9985000	Active TSS	Ovary	ovary
29	chr2:9983000-9985000	Active TSS	Psoas Muscle	Psoas
30	chr2:9983000-9985000	Active TSS	Rectal Smooth Muscle	rectum
31	chr2:9983200-9984600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr2:9983200-9984600	Active TSS	Small Intestine	intestine
33	chr2:9983200-9984800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr2:9983200-9984800	Active TSS	A549	lung
35	chr2:9983200-9985200	Active TSS	NHLF	lung
36	chr2:9983400-9984600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr2:9983400-9984600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr2:9983400-9984600	Active TSS	Brain Germinal Matrix	brain
39	chr2:9983400-9984800	Active TSS	NHEK	skin
40	chr2:9983400-9985000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr2:9983400-9985000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:9983400-9985000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
43	chr2:9983400-9985000	Active TSS	Lung	lung
44	chr2:9983400-9985200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr2:9983400-9985200	Active TSS	GM12878-XiMat	blood
46	chr2:9983400-9985200	Active TSS	NHDF-Ad	bronchial
47	chr2:9983400-9985400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:9983400-9985400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr2:9983800-9985000	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr2:9984000-9984600	Flanking Active TSS	Primary hematopoietic stem cells	blood

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