Variant report

Variant	rs12906942
Chromosome Location	chr15:72794405-72794406
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr15:72786515..72788170-chr15:72792822..72795467,3	K562	blood:
2	chr15:72765067..72767793-chr15:72793680..72795606,2	MCF-7	breast:
3	chr15:72787696..72791100-chr15:72791262..72794820,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261423	Chromatin interaction
ENSG00000166233	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs10220850	1.00[CEU][hapmap]
rs11632505	1.00[CEU][hapmap]
rs12904334	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs12904378	1.00[CEU][hapmap]
rs12907707	1.00[CEU][hapmap]
rs12908883	1.00[CEU][hapmap]
rs12916097	1.00[EUR][1000 genomes]
rs2912221	1.00[CEU][hapmap]
rs2912222	1.00[CEU][hapmap]
rs2912223	1.00[CEU][hapmap]
rs2912224	1.00[CEU][hapmap]
rs2912225	1.00[CEU][hapmap]
rs2959916	1.00[CEU][hapmap]
rs2959918	1.00[CEU][hapmap]
rs2959919	1.00[CEU][hapmap]
rs2959925	1.00[CEU][hapmap]
rs2959926	1.00[CEU][hapmap]
rs2959933	1.00[CEU][hapmap]
rs34083902	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35150214	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs35263304	0.92[ASN][1000 genomes]
rs4776592	1.00[CEU][hapmap]
rs4776593	1.00[CEU][hapmap]
rs4777501	1.00[CEU][hapmap]
rs9672916	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3430860	chr15:72373723-72849907	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription 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	172 gene(s)	inside rSNPs	diseases
2	nsv534037	chr15:72659210-72964029	Weak transcription Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription ZNF genes & repeats 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 miRNA target site	73 gene(s)	inside rSNPs	diseases
3	nsv469704	chr15:72669374-72853927	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	50 gene(s)	inside rSNPs	diseases
4	nsv482685	chr15:72669374-72853927	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription 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	50 gene(s)	inside rSNPs	diseases
5	nsv1050558	chr15:72739150-72860350	Weak transcription Strong transcription Enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases
6	nsv542427	chr15:72739150-72860350	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:72769600-72797000	Weak transcription	Primary hematopoietic stem cells	blood
2	chr15:72769600-72832200	Weak transcription	Cortex derived primary cultured neurospheres	brain
3	chr15:72769800-72805200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr15:72771600-72826000	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr15:72772600-72820800	Weak transcription	Thymus	Thymus
6	chr15:72773000-72817200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr15:72773000-72819600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr15:72774000-72796000	Weak transcription	Fetal Stomach	stomach
9	chr15:72775600-72832800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr15:72775800-72796000	Weak transcription	Esophagus	oesophagus
11	chr15:72780400-72812400	Weak transcription	HepG2	liver
12	chr15:72782200-72808000	Weak transcription	Fetal Muscle Leg	muscle
13	chr15:72782600-72828400	Weak transcription	K562	blood
14	chr15:72782800-72794800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr15:72783400-72794800	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr15:72783400-72796000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
17	chr15:72783600-72794800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr15:72784200-72813800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr15:72784600-72821400	Weak transcription	HUVEC	blood vessel
20	chr15:72784800-72795600	Weak transcription	HSMMtube	muscle
21	chr15:72785600-72806800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr15:72785800-72795400	Weak transcription	Osteobl	bone
23	chr15:72785800-72795600	Weak transcription	Brain Anterior Caudate	brain
24	chr15:72785800-72795600	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr15:72785800-72797400	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr15:72785800-72808000	Weak transcription	Muscle Satellite Cultured Cells	--
27	chr15:72786000-72807800	Weak transcription	NHEK	skin
28	chr15:72786800-72801200	Weak transcription	Fetal Brain Female	brain
29	chr15:72787000-72794600	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr15:72787200-72803600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr15:72787600-72795600	Weak transcription	Right Ventricle	heart
32	chr15:72787600-72801600	Weak transcription	NHDF-Ad	bronchial
33	chr15:72787800-72803400	Weak transcription	GM12878-XiMat	blood
34	chr15:72788600-72796000	Weak transcription	Fetal Intestine Small	intestine
35	chr15:72788600-72798200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr15:72789000-72794800	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr15:72789200-72794800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr15:72789200-72794800	Weak transcription	Left Ventricle	heart
39	chr15:72789200-72795000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr15:72789200-72795000	Weak transcription	Right Atrium	heart
41	chr15:72789200-72795600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr15:72789200-72796000	Weak transcription	Lung	lung
43	chr15:72789200-72796200	Weak transcription	Aorta	Aorta
44	chr15:72789200-72798000	Weak transcription	Gastric	stomach
45	chr15:72789200-72799600	Weak transcription	Psoas Muscle	Psoas
46	chr15:72789400-72794800	Weak transcription	Ovary	ovary
47	chr15:72789400-72795200	Weak transcription	Brain Substantia Nigra	brain
48	chr15:72789400-72795400	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr15:72789400-72796600	Weak transcription	Skeletal Muscle Male	skeletal muscle
50	chr15:72789400-72805200	Weak transcription	Liver	Liver

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