Variant report

Variant	rs13012585
Chromosome Location	chr2:233731486-233731487
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:233713450..233715209-chr2:233729940..233731619,2	K562	blood:
2	chr2:233730563..233732599-chr2:233735089..233737149,2	K562	blood:
3	chr2:233715218..233716776-chr2:233729357..233731524,2	MCF-7	breast:

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs10178713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11679581	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11904619	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12328140	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12328151	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12988087	0.80[AMR][1000 genomes]
rs12992588	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs13035517	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13383733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13387762	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13424896	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13425918	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2044450	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2048866	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2292724	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2292725	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs28491817	0.90[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs34652626	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35141217	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62193305	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs73005582	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9808146	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948470	chr2:233166262-233886732	Enhancers Strong transcription Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	nsv1005123	chr2:233227729-233920152	Enhancers Strong transcription Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv536173	chr2:233227729-233920152	Bivalent Enhancer Strong transcription Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
4	nsv834570	chr2:233639160-233805067	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv584697	chr2:233684097-233733352	Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
6	nsv1009825	chr2:233709566-233763470	Weak transcription Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv984452	chr2:233725452-233762965	Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:233665800-233734200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:233722800-233738000	Weak transcription	Stomach Mucosa	stomach
3	chr2:233723000-233733200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr2:233723000-233740400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr2:233723200-233733200	Weak transcription	Small Intestine	intestine
6	chr2:233723200-233736600	Weak transcription	Colonic Mucosa	Colon
7	chr2:233723200-233738600	Weak transcription	K562	blood
8	chr2:233723600-233734200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr2:233723600-233735200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr2:233723600-233736400	Weak transcription	Right Ventricle	heart
11	chr2:233723600-233736600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr2:233724000-233734600	Weak transcription	Brain Substantia Nigra	brain
13	chr2:233724000-233736000	Weak transcription	Fetal Brain Male	brain
14	chr2:233724200-233732200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
15	chr2:233724200-233733800	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr2:233724200-233738600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr2:233724400-233734200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr2:233724600-233734200	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr2:233724600-233738600	Weak transcription	Esophagus	oesophagus
20	chr2:233724800-233732800	Weak transcription	Hela-S3	cervix
21	chr2:233724800-233734600	Weak transcription	Skeletal Muscle Male	skeletal muscle
22	chr2:233725000-233735800	Weak transcription	Fetal Thymus	thymus
23	chr2:233726000-233733400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr2:233726000-233737400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr2:233726000-233740400	Weak transcription	HMEC	breast
26	chr2:233726200-233735000	Weak transcription	Brain Angular Gyrus	brain
27	chr2:233726200-233735600	Weak transcription	Osteobl	bone
28	chr2:233726200-233737400	Weak transcription	Fetal Brain Female	brain
29	chr2:233726400-233732200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr2:233726400-233732400	Weak transcription	Fetal Kidney	kidney
31	chr2:233726400-233733000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr2:233726400-233734400	Weak transcription	Brain Hippocampus Middle	brain
33	chr2:233726400-233735000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
34	chr2:233726400-233735000	Weak transcription	Spleen	Spleen
35	chr2:233726400-233736000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:233726400-233736200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:233726400-233736200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr2:233726400-233738200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr2:233726400-233739000	Weak transcription	Thymus	Thymus
40	chr2:233726400-233740200	Weak transcription	Primary B cells from cord blood	blood
41	chr2:233726400-233740400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr2:233726400-233740800	Weak transcription	HSMM	muscle
43	chr2:233726600-233732200	Weak transcription	Adipose Nuclei	Adipose
44	chr2:233726600-233734000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr2:233726600-233734000	Weak transcription	Colon Smooth Muscle	Colon
46	chr2:233726600-233734600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr2:233726600-233734800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:233726600-233735800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr2:233726600-233736000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
50	chr2:233726600-233736200	Weak transcription	Primary hematopoietic stem cells	blood

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