Variant report

Variant	rs968325
Chromosome Location	chr18:29262427-29262428
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CHD1	chr18:29262109-29262447	GM12878	blood:	n/a	n/a
2	RUNX3	chr18:29262408-29262761	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29259339..29260872-chr18:29261230..29264110,2	K562	blood:

Variant related genes	Relation type
ENSG00000259985	TF binding region

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10048377	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10775449	0.84[ASW][hapmap];0.96[CEU][hapmap];0.90[CHB][hapmap];0.98[CHD][hapmap];0.86[GIH][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11081707	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11081708	0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11660271	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11664177	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12327203	0.88[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.83[GIH][hapmap];0.90[JPT][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12605321	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12964693	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1449082	0.84[ASW][hapmap];0.96[CEU][hapmap];0.85[CHB][hapmap];0.93[CHD][hapmap];0.90[GIH][hapmap];0.84[JPT][hapmap];0.81[LWK][hapmap];0.82[MKK][hapmap];0.98[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1551006	0.81[GIH][hapmap]
rs1614197	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1979105	0.85[CHB][hapmap];0.85[JPT][hapmap];0.94[ASN][1000 genomes]
rs34530749	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs718780	1.00[CEU][hapmap];0.90[CHB][hapmap];0.91[CHD][hapmap];0.85[GIH][hapmap];0.85[JPT][hapmap];0.81[LWK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs8098191	0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
5	esv2577449	chr18:29262076-29263295	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29253200-29262800	Weak transcription	HepG2	liver
2	chr18:29253600-29264200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr18:29257800-29262600	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr18:29258000-29263800	Weak transcription	Thymus	Thymus
5	chr18:29258200-29262600	Enhancers	Primary hematopoietic stem cells short term culture	blood
6	chr18:29258200-29263000	Enhancers	Primary hematopoietic stem cells	blood
7	chr18:29258200-29263200	Weak transcription	Fetal Thymus	thymus
8	chr18:29258200-29263600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr18:29258200-29263800	Weak transcription	Small Intestine	intestine
10	chr18:29258400-29263200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr18:29258800-29263600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr18:29259000-29263000	Weak transcription	Psoas Muscle	Psoas
13	chr18:29259000-29264000	Weak transcription	Esophagus	oesophagus
14	chr18:29259000-29264400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr18:29259400-29263800	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr18:29259600-29263800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr18:29259600-29264000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
18	chr18:29259800-29263800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr18:29259800-29263800	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr18:29259800-29263800	Weak transcription	NHDF-Ad	bronchial
21	chr18:29260000-29263800	Weak transcription	Osteobl	bone
22	chr18:29260200-29263600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
23	chr18:29260200-29263800	Weak transcription	Adipose Nuclei	Adipose
24	chr18:29260400-29263000	Enhancers	Dnd41	blood
25	chr18:29260400-29263200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr18:29260400-29263400	Weak transcription	NH-A	brain
27	chr18:29260400-29263800	Weak transcription	Liver	Liver
28	chr18:29260400-29264200	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr18:29260600-29262800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr18:29260600-29262800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr18:29260600-29263000	Weak transcription	Fetal Brain Female	brain
32	chr18:29260600-29263200	Weak transcription	Fetal Heart	heart
33	chr18:29260600-29263600	Weak transcription	Right Atrium	heart
34	chr18:29260600-29263800	Weak transcription	Colonic Mucosa	Colon
35	chr18:29260600-29264200	Weak transcription	Left Ventricle	heart
36	chr18:29260600-29264200	Weak transcription	Lung	lung
37	chr18:29260600-29264200	Weak transcription	Pancreas	Pancrea
38	chr18:29260800-29263200	Weak transcription	Monocytes-CD14+_RO01746	blood
39	chr18:29260800-29263600	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr18:29260800-29264000	Weak transcription	Right Ventricle	heart
41	chr18:29261000-29262800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr18:29261000-29263000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr18:29261000-29263200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr18:29261000-29263200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr18:29261000-29263200	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr18:29261000-29263400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr18:29261000-29263800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr18:29261000-29264000	Weak transcription	Stomach Mucosa	stomach
49	chr18:29261000-29264200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr18:29261000-29264200	Weak transcription	Gastric	stomach

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