Variant report

Variant	rs3131612
Chromosome Location	chr15:50797061-50797062
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:50790299..50792731-chr15:50795242..50797237,2	MCF-7	breast:
2	chr15:50646420..50649209-chr15:50796093..50799049,3	MCF-7	breast:
3	chr15:50796401..50797258-chr18:671842..672405,2	NB4	blood:
4	chr15:50649293..50650992-chr15:50796880..50798462,2	K562	blood:

Variant related genes	Relation type
ENSG00000138592	Chromatin interaction
ENSG00000244879	Chromatin interaction
ENSG00000259298	Chromatin interaction
ENSG00000104064	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2241769	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28648524	0.88[ASN][1000 genomes]
rs3098180	0.82[ASN][1000 genomes]
rs3098184	0.80[EUR][1000 genomes]
rs3098197	0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs3098204	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3131564	0.81[ASN][1000 genomes]
rs3131565	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs3131571	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3131572	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3131575	0.83[EUR][1000 genomes]
rs3131613	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs55982633	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:23 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1045456	chr15:50592472-51019873	Strong transcription Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	121 gene(s)	inside rSNPs	diseases
2	nsv948579	chr15:50645530-51045564	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
3	nsv524613	chr15:50656449-50868779	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1040717	chr15:50715572-50846521	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking 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 target site	27 gene(s)	inside rSNPs	diseases
5	nsv1053966	chr15:50715572-51133186	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Genic enhancers 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 target site	65 gene(s)	inside rSNPs	diseases
6	nsv542383	chr15:50715572-51133186	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
7	nsv1043805	chr15:50715572-51208891	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS 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 target site	82 gene(s)	inside rSNPs	diseases
8	nsv542384	chr15:50715572-51208891	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic 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 target site	82 gene(s)	inside rSNPs	diseases
9	nsv1049576	chr15:50744781-50843495	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
10	nsv1047443	chr15:50744781-51647023	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
11	nsv1051990	chr15:50745814-51133186	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS 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 target site	50 gene(s)	inside rSNPs	diseases
12	nsv1054970	chr15:50761410-51036625	Strong transcription Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Flanking Active TSS 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 target site	32 gene(s)	inside rSNPs	diseases
13	nsv457134	chr15:50770868-51184583	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
14	nsv471242	chr15:50770868-51184583	Genic enhancers ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS 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 target site	54 gene(s)	inside rSNPs	diseases
15	nsv569396	chr15:50770868-51184583	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
16	nsv457135	chr15:50770868-51189707	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
17	nsv569397	chr15:50770868-51189707	Strong transcription Active TSS Weak transcription Enhancers Genic enhancers Flanking 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 target site	54 gene(s)	inside rSNPs	diseases
18	nsv1048621	chr15:50775451-51115535	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
19	nsv1047039	chr15:50782070-51187804	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
20	nsv542385	chr15:50782070-51187804	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
21	nsv457136	chr15:50789125-51294995	Strong transcription ZNF genes & repeats Weak transcription Active TSS Enhancers Genic enhancers Flanking 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 lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
22	nsv569398	chr15:50789125-51294995	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
23	nsv431389	chr15:50795835-50979738	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:50774200-50797600	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr15:50785800-50798400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr15:50786000-50798000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:50786200-50797200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr15:50786200-50797200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr15:50786200-50797200	Weak transcription	Esophagus	oesophagus
7	chr15:50786200-50810000	Weak transcription	Psoas Muscle	Psoas
8	chr15:50786400-50797400	Weak transcription	Fetal Heart	heart
9	chr15:50786400-50798400	Weak transcription	Gastric	stomach
10	chr15:50789600-50798200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr15:50789600-50798200	Weak transcription	Aorta	Aorta
12	chr15:50789600-50798200	Weak transcription	HepG2	liver
13	chr15:50791400-50798000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr15:50791400-50805400	Weak transcription	Small Intestine	intestine
15	chr15:50791800-50797400	Weak transcription	HUVEC	blood vessel
16	chr15:50791800-50798200	Weak transcription	Brain Angular Gyrus	brain
17	chr15:50792000-50797400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr15:50792400-50797200	Weak transcription	Colonic Mucosa	Colon
19	chr15:50792400-50798000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr15:50793000-50797200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr15:50793000-50797200	Weak transcription	HSMMtube	muscle
22	chr15:50793000-50798000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr15:50793000-50798200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr15:50793200-50797200	Weak transcription	Colon Smooth Muscle	Colon
25	chr15:50793200-50798000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr15:50793200-50798000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr15:50793200-50798000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr15:50793200-50798000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr15:50793200-50798200	Weak transcription	Brain Anterior Caudate	brain
30	chr15:50793200-50799800	Weak transcription	Brain Cingulate Gyrus	brain
31	chr15:50793200-50804400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr15:50793400-50805200	Weak transcription	Brain Hippocampus Middle	brain
33	chr15:50793600-50797200	Weak transcription	Brain Substantia Nigra	brain
34	chr15:50793800-50797400	Weak transcription	Rectal Smooth Muscle	rectum
35	chr15:50793800-50797400	Weak transcription	Osteobl	bone
36	chr15:50793800-50798200	Weak transcription	Fetal Kidney	kidney
37	chr15:50794000-50797200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr15:50794000-50797400	Weak transcription	Primary T helper cells PMA-I stimulated	--
39	chr15:50794000-50797400	Weak transcription	Dnd41	blood
40	chr15:50794000-50797600	Weak transcription	NHEK	skin
41	chr15:50794000-50798000	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr15:50794000-50798000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr15:50794000-50798000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr15:50794000-50798000	Weak transcription	Muscle Satellite Cultured Cells	--
45	chr15:50794000-50798000	Weak transcription	Ovary	ovary
46	chr15:50794000-50798000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr15:50794000-50798200	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr15:50794200-50797200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr15:50794200-50799200	Weak transcription	NH-A	brain
50	chr15:50794400-50797400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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