Variant report

Variant	rs12901130
Chromosome Location	chr15:77848806-77848807
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:77847726..77850177-chr15:77859392..77861698,2	K562	blood:
2	chr15:77848566..77850112-chr15:77856631..77859198,2	K562	blood:
3	chr15:77848268..77851249-chr15:77883793..77885346,2	MCF-7	breast:
4	chr15:77840852..77845440-chr15:77846808..77850692,5	K562	blood:
5	chr15:77848438..77851266-chr15:77854844..77857960,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000259420	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs1005752	0.95[JPT][hapmap]
rs11072653	0.89[JPT][hapmap]
rs11633054	1.00[JPT][hapmap]
rs11854328	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11855188	0.94[EUR][1000 genomes]
rs11857450	1.00[JPT][hapmap]
rs11857860	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12324627	1.00[JPT][hapmap]
rs12900004	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12901503	0.95[JPT][hapmap]
rs12904553	0.83[ASN][1000 genomes]
rs12905285	0.83[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs12907746	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.86[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1473922	0.89[JPT][hapmap]
rs1565756	0.89[JPT][hapmap]
rs2055901	1.00[JPT][hapmap]
rs34591043	0.89[JPT][hapmap]
rs4886866	0.89[JPT][hapmap]
rs4886869	1.00[JPT][hapmap]
rs4886873	0.89[CEU][hapmap]
rs4886875	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4886876	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4886877	1.00[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs62009090	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6495240	1.00[JPT][hapmap]
rs7162637	1.00[CEU][hapmap];0.95[CHB][hapmap];0.90[JPT][hapmap];0.93[YRI][hapmap];0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7170877	0.83[ASN][1000 genomes]
rs7178572	1.00[JPT][hapmap]
rs8024485	0.89[JPT][hapmap]
rs8034133	1.00[JPT][hapmap]
rs907369	0.91[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs907372	0.85[CHB][hapmap];0.90[JPT][hapmap];0.80[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs907388	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040852	chr15:77160237-78137541	Enhancers Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv916323	chr15:77485765-78121259	Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1043284	chr15:77740632-77884026	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv570139	chr15:77762493-77865459	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats 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 target site	11 gene(s)	inside rSNPs	diseases
5	nsv570140	chr15:77787469-77851535	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
6	nsv833060	chr15:77816654-78035204	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
7	esv1806097	chr15:77817889-78301377	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
8	nsv904415	chr15:77845959-77943935	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv904416	chr15:77845959-77967416	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:77838600-77849800	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr15:77838800-77849000	Weak transcription	Gastric	stomach
3	chr15:77841600-77849600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr15:77842200-77850200	Enhancers	Brain Inferior Temporal Lobe	brain
5	chr15:77842800-77850400	Enhancers	Brain Hippocampus Middle	brain
6	chr15:77844400-77850200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr15:77844600-77850000	Enhancers	Brain Anterior Caudate	brain
8	chr15:77844800-77849800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr15:77844800-77849800	Enhancers	Brain Substantia Nigra	brain
10	chr15:77845000-77849400	Weak transcription	Duodenum Mucosa	Duodenum
11	chr15:77846200-77850200	Enhancers	Brain Cingulate Gyrus	brain
12	chr15:77846800-77850000	Enhancers	Fetal Lung	lung
13	chr15:77847000-77851200	Enhancers	HUES6 Cell Line	embryonic stem cell
14	chr15:77847400-77850800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr15:77847600-77849200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr15:77847600-77850000	Weak transcription	Spleen	Spleen
17	chr15:77847800-77849600	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr15:77847800-77849600	Weak transcription	Left Ventricle	heart
19	chr15:77848000-77849800	Enhancers	Brain Germinal Matrix	brain
20	chr15:77848000-77855800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr15:77848200-77849400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr15:77848400-77849200	Enhancers	Fetal Brain Male	brain
23	chr15:77848400-77849600	Enhancers	Fetal Intestine Small	intestine
24	chr15:77848600-77849000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr15:77848600-77849000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr15:77848600-77849800	Enhancers	Fetal Brain Female	brain
27	chr15:77848600-77850000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr15:77848600-77850000	Enhancers	Brain Angular Gyrus	brain
29	chr15:77848600-77850200	Enhancers	Fetal Intestine Large	intestine
30	chr15:77848600-77850600	Enhancers	Placenta	Placenta
31	chr15:77848800-77849400	Enhancers	Fetal Muscle Leg	muscle
32	chr15:77848800-77850200	Enhancers	Fetal Heart	heart
33	chr15:77848800-77850400	Enhancers	iPS-18 Cell Line	embryonic stem cell

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