Variant report

Variant	rs58002521
Chromosome Location	chr2:86416426-86416427
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:86416168..86418699-chr2:86447474..86449774,2	K562	blood:
2	chr2:86411907..86414408-chr2:86415972..86419181,3	K562	blood:
3	chr2:86413826..86416795-chr2:86426545..86428468,2	MCF-7	breast:
4	chr2:86416284..86418486-chr2:86847509..86849748,2	K562	blood:
5	chr2:86416003..86418301-chr2:86421079..86423756,3	MCF-7	breast:
6	chr2:86331851..86334412-chr2:86415108..86418153,3	K562	blood:
7	chr2:86415238..86416743-chr2:86666479..86669021,2	K562	blood:

Variant related genes	Relation type
ENSG00000132305	Chromatin interaction
ENSG00000273080	Chromatin interaction
ENSG00000132313	Chromatin interaction
ENSG00000132300	Chromatin interaction
ENSG00000115548	Chromatin interaction
ENSG00000068654	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10184159	0.81[ASN][1000 genomes]
rs17026904	0.81[ASN][1000 genomes]
rs2241434	0.91[EUR][1000 genomes]
rs2278532	0.81[ASN][1000 genomes]
rs2278533	0.81[ASN][1000 genomes]
rs2278534	0.81[ASN][1000 genomes]
rs2278535	0.81[ASN][1000 genomes]
rs2288116	0.81[ASN][1000 genomes]
rs3764948	0.91[EUR][1000 genomes]
rs3770063	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3770064	0.93[ASN][1000 genomes]
rs3770076	0.81[ASN][1000 genomes]
rs3770083	0.81[ASN][1000 genomes]
rs3770084	0.81[ASN][1000 genomes]
rs3770085	0.81[ASN][1000 genomes]
rs3821019	0.81[ASN][1000 genomes]
rs41291149	1.00[AMR][1000 genomes]
rs57150140	0.81[ASN][1000 genomes]
rs58009603	0.81[ASN][1000 genomes]
rs58026145	0.81[ASN][1000 genomes]
rs58678485	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs58861315	0.81[ASN][1000 genomes]
rs58919291	0.81[ASN][1000 genomes]
rs59053280	0.81[ASN][1000 genomes]
rs59185549	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs59649940	0.93[ASN][1000 genomes]
rs61185790	0.81[ASN][1000 genomes]
rs61254540	0.81[ASN][1000 genomes]
rs6755228	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751903	chr2:86253542-86505453	Active TSS Genic enhancers Weak transcription Strong transcription 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 miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv531380	chr2:86253552-86469217	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1007474	chr2:86281967-86505453	Enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv997563	chr2:86281967-86506132	Genic enhancers Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	nsv1008924	chr2:86282722-86499402	Genic enhancers Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	nsv999956	chr2:86285944-86505453	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1012768	chr2:86285944-86506132	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv1003207	chr2:86286314-86496732	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	nsv1000441	chr2:86286314-86508168	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
10	nsv535808	chr2:86286314-86508168	Genic enhancers Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
11	nsv1004442	chr2:86286480-86506132	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Strong transcription Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv916616	chr2:86289130-86509326	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
13	nsv458563	chr2:86292341-86507688	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
14	nsv582370	chr2:86292341-86507688	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
15	nsv1009140	chr2:86294939-86506132	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
16	nsv582371	chr2:86296566-86507688	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
17	nsv531381	chr2:86301091-86478346	Active TSS Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
18	nsv1001157	chr2:86301440-86508168	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	esv3412938	chr2:86370969-86867936	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	77 gene(s)	inside rSNPs	diseases
20	nsv458574	chr2:86385728-86507688	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
21	nsv582372	chr2:86385728-86507688	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86390400-86421200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:86398600-86417200	Weak transcription	Fetal Brain Male	brain
3	chr2:86404000-86421200	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr2:86406000-86421200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr2:86407000-86421200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:86407200-86416600	Weak transcription	NHLF	lung
7	chr2:86407200-86417800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr2:86407200-86418600	Weak transcription	Ovary	ovary
9	chr2:86407200-86420800	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr2:86407200-86421000	Weak transcription	Small Intestine	intestine
11	chr2:86407200-86421200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:86407600-86417000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr2:86408400-86417000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:86408400-86421000	Weak transcription	Brain Germinal Matrix	brain
15	chr2:86408600-86416600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr2:86408600-86416600	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr2:86408600-86419000	Weak transcription	Fetal Muscle Trunk	muscle
18	chr2:86408600-86420600	Weak transcription	NH-A	brain
19	chr2:86408600-86421000	Weak transcription	Fetal Intestine Large	intestine
20	chr2:86408600-86421200	Weak transcription	H1 Cell Line	embryonic stem cell
21	chr2:86411600-86417000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr2:86411600-86421200	Weak transcription	Aorta	Aorta
23	chr2:86412400-86420600	Weak transcription	Stomach Mucosa	stomach
24	chr2:86412400-86421000	Weak transcription	Right Atrium	heart
25	chr2:86412800-86417800	Weak transcription	Liver	Liver
26	chr2:86413200-86417000	Weak transcription	HMEC	breast
27	chr2:86413200-86417200	Weak transcription	Hela-S3	cervix
28	chr2:86413400-86416600	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr2:86413400-86419800	Genic enhancers	Dnd41	blood
30	chr2:86413400-86419800	Weak transcription	Osteobl	bone
31	chr2:86413400-86420800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr2:86413600-86418400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:86413600-86419600	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr2:86413800-86417000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr2:86413800-86417200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr2:86413800-86417200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
37	chr2:86413800-86417200	Weak transcription	Brain Substantia Nigra	brain
38	chr2:86413800-86417400	Enhancers	Primary T cells from cord blood	blood
39	chr2:86413800-86417600	Weak transcription	Psoas Muscle	Psoas
40	chr2:86413800-86418000	Weak transcription	Adipose Nuclei	Adipose
41	chr2:86413800-86418000	Weak transcription	Spleen	Spleen
42	chr2:86413800-86418400	Weak transcription	Lung	lung
43	chr2:86413800-86418600	Weak transcription	NHEK	skin
44	chr2:86413800-86419600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr2:86413800-86419800	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr2:86413800-86420200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:86413800-86420600	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chr2:86413800-86420600	Weak transcription	NHDF-Ad	bronchial
49	chr2:86413800-86420800	Weak transcription	Brain Anterior Caudate	brain
50	chr2:86413800-86421000	Weak transcription	Brain Angular Gyrus	brain

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