Variant report

Variant	rs12967642
Chromosome Location	chr18:29260284-29260285
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:29259001..29261313-chr18:29272206..29274958,2	MCF-7	breast:
2	chr18:29251332..29253649-chr18:29260084..29261711,2	K562	blood:
3	chr18:29259339..29260872-chr18:29261230..29264110,2	K562	blood:

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs12957312	1.00[ASN][1000 genomes]
rs12964359	1.00[ASN][1000 genomes]
rs12967431	1.00[ASN][1000 genomes]
rs12967606	1.00[ASN][1000 genomes]
rs1630405	1.00[ASN][1000 genomes]
rs1680645	1.00[ASN][1000 genomes]
rs17661987	1.00[ASN][1000 genomes]
rs17718389	1.00[ASN][1000 genomes]
rs17718513	1.00[ASN][1000 genomes]
rs2230234	1.00[ASN][1000 genomes]
rs34844920	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs34959937	1.00[ASN][1000 genomes]
rs35129944	1.00[ASN][1000 genomes]
rs35217404	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35271356	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35703749	1.00[ASN][1000 genomes]
rs501570	1.00[ASN][1000 genomes]
rs616082	1.00[ASN][1000 genomes]
rs6506937	0.89[EUR][1000 genomes]
rs66534107	1.00[ASN][1000 genomes]
rs668996	1.00[ASN][1000 genomes]
rs71361333	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71361335	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71361336	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71361337	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71361338	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs71361339	0.89[EUR][1000 genomes]
rs71361340	0.89[EUR][1000 genomes]
rs71361341	0.94[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71361344	1.00[ASN][1000 genomes]
rs71361345	1.00[ASN][1000 genomes]
rs73409433	1.00[ASN][1000 genomes]
rs8083292	1.00[ASN][1000 genomes]
rs8083894	1.00[ASN][1000 genomes]
rs8084382	1.00[ASN][1000 genomes]
rs8084675	1.00[ASN][1000 genomes]
rs9952659	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv909519	chr18:29172865-29330214	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	esv1831348	chr18:29205526-29268786	Weak transcription Enhancers Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	nsv1059078	chr18:29225522-29454980	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv543675	chr18:29225522-29454980	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29253200-29262800	Weak transcription	HepG2	liver
2	chr18:29253600-29260400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr18:29253600-29262200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr18:29253600-29264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr18:29257200-29260400	Weak transcription	Fetal Brain Female	brain
6	chr18:29257200-29261600	Flanking Active TSS	GM12878-XiMat	blood
7	chr18:29257400-29260400	Enhancers	iPS-20b Cell Line	embryonic stem cell
8	chr18:29257400-29261000	Enhancers	HUES64 Cell Line	embryonic stem cell
9	chr18:29257600-29260800	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr18:29257600-29261000	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr18:29257800-29261000	Enhancers	Gastric	stomach
12	chr18:29257800-29261600	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr18:29257800-29261800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr18:29257800-29262400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr18:29257800-29262600	Enhancers	HUES6 Cell Line	embryonic stem cell
16	chr18:29258000-29260400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr18:29258000-29260600	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr18:29258000-29263800	Weak transcription	Thymus	Thymus
19	chr18:29258200-29260800	Enhancers	Monocytes-CD14+_RO01746	blood
20	chr18:29258200-29261600	Enhancers	NHEK	skin
21	chr18:29258200-29262000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr18:29258200-29262600	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr18:29258200-29263000	Enhancers	Primary hematopoietic stem cells	blood
24	chr18:29258200-29263200	Weak transcription	Fetal Thymus	thymus
25	chr18:29258200-29263600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr18:29258200-29263800	Weak transcription	Small Intestine	intestine
27	chr18:29258400-29261000	Enhancers	Stomach Mucosa	stomach
28	chr18:29258400-29262200	Enhancers	Fetal Intestine Large	intestine
29	chr18:29258400-29262200	Enhancers	Fetal Intestine Small	intestine
30	chr18:29258400-29263200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
31	chr18:29258600-29260400	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr18:29258600-29261000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr18:29258600-29261000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr18:29258800-29260400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr18:29258800-29263600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr18:29259000-29263000	Weak transcription	Psoas Muscle	Psoas
37	chr18:29259000-29264000	Weak transcription	Esophagus	oesophagus
38	chr18:29259000-29264400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr18:29259200-29260800	Enhancers	Rectal Mucosa Donor 29	rectum
40	chr18:29259200-29261600	Enhancers	Rectal Mucosa Donor 31	rectum
41	chr18:29259400-29260400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr18:29259400-29261000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr18:29259400-29261800	Enhancers	H9 Cell Line	embryonic stem cell
44	chr18:29259400-29263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
45	chr18:29259600-29260600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr18:29259600-29261600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr18:29259600-29261600	Enhancers	HMEC	breast
48	chr18:29259600-29263800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr18:29259600-29264000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr18:29259800-29260400	Enhancers	NH-A	brain

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