Variant report

Variant	rs59053280
Chromosome Location	chr2:86338400-86338401
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:86335884..86339604-chr2:86348424..86352385,3	MCF-7	breast:
2	chr2:86332185..86335101-chr2:86336864..86340583,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132300	Chromatin interaction
ENSG00000068654	Chromatin interaction

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10184159	1.00[ASN][1000 genomes]
rs12124	0.89[ASN][1000 genomes]
rs17026904	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2241433	1.00[EUR][1000 genomes]
rs2278532	1.00[ASN][1000 genomes]
rs2278533	1.00[ASN][1000 genomes]
rs2278534	1.00[ASN][1000 genomes]
rs2278535	1.00[ASN][1000 genomes]
rs2278537	0.96[ASN][1000 genomes]
rs2288116	1.00[ASN][1000 genomes]
rs3731821	1.00[EUR][1000 genomes]
rs3731822	0.89[ASN][1000 genomes]
rs3755005	0.96[ASN][1000 genomes]
rs3770063	0.88[ASN][1000 genomes]
rs3770064	0.88[ASN][1000 genomes]
rs3770076	1.00[ASN][1000 genomes]
rs3770083	1.00[ASN][1000 genomes]
rs3770084	1.00[ASN][1000 genomes]
rs3770085	1.00[ASN][1000 genomes]
rs3770086	0.96[ASN][1000 genomes]
rs3770088	0.84[ASN][1000 genomes]
rs3770091	0.96[ASN][1000 genomes]
rs3821019	1.00[ASN][1000 genomes]
rs56861544	0.81[ASN][1000 genomes]
rs57150140	1.00[ASN][1000 genomes]
rs57318396	0.81[ASN][1000 genomes]
rs57361751	0.89[ASN][1000 genomes]
rs57405155	0.89[ASN][1000 genomes]
rs57963460	0.81[ASN][1000 genomes]
rs58002521	0.81[ASN][1000 genomes]
rs58009603	1.00[ASN][1000 genomes]
rs58026145	1.00[ASN][1000 genomes]
rs58810051	0.87[ASN][1000 genomes]
rs58861315	1.00[ASN][1000 genomes]
rs58913632	0.89[ASN][1000 genomes]
rs58919291	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59185549	0.88[ASN][1000 genomes]
rs59649940	0.88[ASN][1000 genomes]
rs60329449	0.96[ASN][1000 genomes]
rs60336356	0.82[ASN][1000 genomes]
rs60460813	1.00[EUR][1000 genomes]
rs61056382	0.96[ASN][1000 genomes]
rs61094144	0.82[ASN][1000 genomes]
rs61185790	1.00[ASN][1000 genomes]
rs61199255	0.81[ASN][1000 genomes]
rs61254540	1.00[ASN][1000 genomes]
rs6755228	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 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	nsv870120	chr2:86265437-86343058	Strong transcription Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	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
18	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
19	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

No data

Chromatin state (count:137 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:86334000-86339200	Weak transcription	Lung	lung
2	chr2:86334200-86342000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr2:86334400-86339400	Weak transcription	Ovary	ovary
4	chr2:86334400-86340600	Weak transcription	Esophagus	oesophagus
5	chr2:86334400-86342000	Weak transcription	Pancreas	Pancrea
6	chr2:86334400-86362800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr2:86334600-86339600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr2:86334600-86339800	Weak transcription	Colonic Mucosa	Colon
9	chr2:86334800-86341400	Weak transcription	Small Intestine	intestine
10	chr2:86334800-86344400	Weak transcription	Stomach Mucosa	stomach
11	chr2:86335000-86340400	Strong transcription	HUES6 Cell Line	embryonic stem cell
12	chr2:86335000-86342400	Weak transcription	Fetal Kidney	kidney
13	chr2:86335000-86379000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
14	chr2:86335000-86409000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:86335200-86338400	Strong transcription	HSMM	muscle
16	chr2:86335200-86339200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr2:86335200-86339200	Weak transcription	Right Ventricle	heart
18	chr2:86335200-86339800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr2:86335200-86340000	Strong transcription	A549	lung
20	chr2:86335200-86340200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr2:86335200-86340400	Strong transcription	Cortex derived primary cultured neurospheres	brain
22	chr2:86335200-86342200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:86335200-86344200	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr2:86335200-86366600	Strong transcription	Primary T cells fromperipheralblood	blood
25	chr2:86335200-86380800	Strong transcription	Fetal Thymus	thymus
26	chr2:86335400-86338400	Strong transcription	Hela-S3	cervix
27	chr2:86335400-86340000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr2:86335400-86340000	Strong transcription	HUES64 Cell Line	embryonic stem cell
29	chr2:86335400-86341000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr2:86335400-86342000	Weak transcription	Brain Substantia Nigra	brain
31	chr2:86335400-86346000	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr2:86335400-86394000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr2:86335400-86408800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr2:86335600-86338600	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr2:86335600-86340200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr2:86335600-86340400	Strong transcription	HMEC	breast
37	chr2:86335600-86341000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr2:86335600-86341000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr2:86335600-86341000	Strong transcription	Muscle Satellite Cultured Cells	--
40	chr2:86335600-86366600	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr2:86335600-86366800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:86335600-86368000	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:86335600-86369200	Strong transcription	Monocytes-CD14+_RO01746	blood
44	chr2:86335600-86373600	Strong transcription	K562	blood
45	chr2:86335600-86378800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr2:86335600-86379000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr2:86335600-86379000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr2:86335600-86379000	Strong transcription	Rectal Mucosa Donor 29	rectum
49	chr2:86335600-86394000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:86335600-86401000	Strong transcription	Placenta	Placenta

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