Variant report

Variant	rs12607810
Chromosome Location	chr18:39554517-39554518
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr18:39550418..39552768-chr18:39552800..39556152,4	K562	blood:
2	chr18:39551912..39556568-chr18:39556669..39562027,6	K562	blood:
3	chr18:39551912..39554681-chr18:39556259..39560409,4	K562	blood:
4	chr18:39550302..39551918-chr18:39553794..39556152,2	K562	blood:
5	chr18:39542951..39545848-chr18:39553174..39555019,2	K562	blood:

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10502776	0.84[ASN][1000 genomes]
rs11082256	0.86[AFR][1000 genomes];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12605021	0.83[ASN][1000 genomes]
rs12606434	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12953847	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12954899	0.83[EUR][1000 genomes]
rs12956553	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12957030	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12961563	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12962602	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12962732	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1544260	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16960213	0.84[ASN][1000 genomes]
rs16975459	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16975462	0.85[ASN][1000 genomes]
rs28438873	0.83[AFR][1000 genomes];0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28541909	0.90[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs28708684	0.84[ASN][1000 genomes]
rs35269653	0.81[EUR][1000 genomes]
rs35617320	0.80[EUR][1000 genomes]
rs3813065	0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3819162	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4121817	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4513183	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs55971157	0.82[ASN][1000 genomes]
rs56680148	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61682064	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs62082292	0.81[EUR][1000 genomes]
rs7230624	0.96[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7230883	0.84[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs7233661	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7237737	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7237780	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7237783	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7238178	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7239652	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7240218	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7241401	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7242727	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73454598	0.85[ASN][1000 genomes]
rs8087875	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs8092954	0.87[EUR][1000 genomes]
rs8095411	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9949409	0.83[ASN][1000 genomes]
rs9949895	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9954624	0.85[ASN][1000 genomes]
rs9956832	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9958749	0.83[ASN][1000 genomes]
rs9964331	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9965466	0.85[ASN][1000 genomes]
rs9966146	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1066869	chr18:38742896-39680723	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS 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	7 gene(s)	inside rSNPs	diseases
2	nsv543685	chr18:38742896-39680723	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv949609	chr18:39126941-40070286	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer 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
4	nsv431979	chr18:39255558-39696452	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv1066029	chr18:39322920-39623625	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv543686	chr18:39322920-39623625	Strong transcription Weak transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
7	nsv909566	chr18:39327962-39688452	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
8	esv34153	chr18:39398768-39872265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
9	nsv909567	chr18:39470190-39652939	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
10	nsv909568	chr18:39491873-39768746	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:39536000-39621800	Weak transcription	Stomach Mucosa	stomach
2	chr18:39536200-39564800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr18:39536200-39568600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr18:39536400-39578200	Weak transcription	A549	lung
5	chr18:39536800-39580000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr18:39536800-39633600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr18:39537400-39555800	Strong transcription	Monocytes-CD14+_RO01746	blood
8	chr18:39545200-39555600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr18:39545600-39583600	Weak transcription	Small Intestine	intestine
10	chr18:39546000-39557400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr18:39546200-39563800	Weak transcription	Fetal Heart	heart
12	chr18:39547400-39564600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr18:39547600-39557400	Weak transcription	Fetal Intestine Small	intestine
14	chr18:39547600-39559200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr18:39547600-39580600	Weak transcription	Spleen	Spleen
16	chr18:39547800-39569000	Weak transcription	Fetal Brain Female	brain
17	chr18:39548000-39557400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr18:39548000-39576000	Weak transcription	Fetal Brain Male	brain
19	chr18:39548000-39580200	Weak transcription	Pancreas	Pancrea
20	chr18:39548200-39555000	Weak transcription	Aorta	Aorta
21	chr18:39548200-39557600	Weak transcription	Fetal Muscle Trunk	muscle
22	chr18:39548200-39557600	Weak transcription	Fetal Stomach	stomach
23	chr18:39548200-39564600	Weak transcription	Esophagus	oesophagus
24	chr18:39548200-39564800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr18:39548200-39569200	Weak transcription	Ovary	ovary
26	chr18:39548200-39576600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr18:39548200-39579400	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr18:39548200-39580200	Weak transcription	Lung	lung
29	chr18:39548200-39580400	Weak transcription	NHLF	lung
30	chr18:39548400-39557200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr18:39548400-39557600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr18:39548400-39562600	Weak transcription	NHEK	skin
33	chr18:39548400-39563400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr18:39548400-39573400	Weak transcription	Skeletal Muscle Female	skeletal muscle
35	chr18:39548400-39576000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
36	chr18:39548400-39670000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr18:39548600-39573400	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr18:39548800-39564800	Weak transcription	HepG2	liver
39	chr18:39549000-39563400	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr18:39549000-39576800	Weak transcription	Skeletal Muscle Male	skeletal muscle
41	chr18:39549200-39582800	Weak transcription	Psoas Muscle	Psoas
42	chr18:39550200-39563200	Weak transcription	Brain Substantia Nigra	brain
43	chr18:39550400-39557600	Weak transcription	Fetal Muscle Leg	muscle
44	chr18:39550400-39577000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr18:39551000-39554600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr18:39551000-39564600	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr18:39551000-39567600	Weak transcription	Fetal Lung	lung
48	chr18:39551000-39573400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr18:39551000-39576200	Weak transcription	Left Ventricle	heart
50	chr18:39551200-39557600	Weak transcription	Cortex derived primary cultured neurospheres	brain

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