Variant report

Variant	rs331425
Chromosome Location	chr18:7809253-7809254
allele	C/T
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	CTCF	chr18:7809140-7809290	BE2_C	brain:	n/a	chr18:7809198-7809216 chr18:7809201-7809214 chr18:7809199-7809215
2	RAD21	chr18:7809099-7809325	H1-hESC	embryonic stem cell:	n/a	chr18:7809181-7809190 chr18:7809113-7809127
3	RAD21	chr18:7808959-7809410	H1-hESC	embryonic stem cell:	n/a	chr18:7809181-7809190 chr18:7809113-7809127
4	CTCF	chr18:7809180-7809330	BE2_C	brain:	n/a	chr18:7809198-7809216 chr18:7809201-7809214 chr18:7809199-7809215
5	CTCF	chr18:7809090-7809345	K562	blood:	n/a	chr18:7809198-7809216 chr18:7809201-7809214 chr18:7809199-7809215
6	CTCF	chr18:7809180-7809330	K562	blood:	n/a	chr18:7809198-7809216 chr18:7809201-7809214 chr18:7809199-7809215
7	ZNF143	chr18:7809102-7809347	H1-hESC	embryonic stem cell:	n/a	n/a
8	CTCF	chr18:7809150-7809277	K562	blood:	n/a	chr18:7809198-7809216 chr18:7809201-7809214 chr18:7809199-7809215

Variant related genes	Relation type
ENSG00000264596	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10502362	0.85[CEU][hapmap];0.84[EUR][1000 genomes]
rs1117814	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12965898	0.85[CEU][hapmap];0.85[EUR][1000 genomes]
rs1348104	0.86[CEU][hapmap];0.86[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs1440995	0.85[CEU][hapmap]
rs1440999	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1441000	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs1441001	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1443614	0.84[CEU][hapmap]
rs1443616	0.89[CEU][hapmap]
rs1822456	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2009770	0.82[CEU][hapmap];0.85[EUR][1000 genomes]
rs2197010	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2377575	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2377577	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs331414	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs331415	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs331418	0.92[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs331419	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.92[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs331426	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34294315	0.84[EUR][1000 genomes]
rs36188935	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs364418	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs385769	0.85[CEU][hapmap];0.91[YRI][hapmap];0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs4798598	0.85[CEU][hapmap];0.86[EUR][1000 genomes]
rs4798599	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs631574	0.89[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.80[YRI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs638251	0.91[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6506535	0.89[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs671369	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs694096	0.93[CEU][hapmap];1.00[CHB][hapmap];0.85[JPT][hapmap];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7228457	0.85[EUR][1000 genomes]
rs7232793	0.84[EUR][1000 genomes]
rs7233704	0.84[EUR][1000 genomes]
rs7235300	0.81[CEU][hapmap]
rs7239136	0.84[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7243673	0.81[CEU][hapmap];0.83[EUR][1000 genomes]
rs727949	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs727951	0.86[CEU][hapmap];0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8083298	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8089088	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs8098502	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs9944547	0.82[AMR][1000 genomes];0.84[EUR][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	nsv534374	chr18:7438812-8412546	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv458016	chr18:7488133-7934001	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv576399	chr18:7488133-7934001	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2762810	chr18:7492090-7924728	Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1062911	chr18:7561991-8088274	Weak transcription Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv543637	chr18:7561991-8088274	Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1064345	chr18:7562051-8088274	Enhancers Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
8	nsv543638	chr18:7562051-8088274	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	nsv576425	chr18:7747873-7859757	Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1062454	chr18:7784432-7838015	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:7766800-7811200	Weak transcription	Aorta	Aorta
2	chr18:7767200-7812400	Weak transcription	Pancreas	Pancrea
3	chr18:7790600-7813400	Weak transcription	Fetal Thymus	thymus
4	chr18:7796000-7811600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr18:7800200-7812200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr18:7800600-7813400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr18:7802200-7809400	Weak transcription	Ovary	ovary
8	chr18:7804400-7809400	Weak transcription	Gastric	stomach
9	chr18:7804400-7811200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr18:7806600-7810400	Enhancers	Psoas Muscle	Psoas
11	chr18:7806600-7813400	Enhancers	Fetal Heart	heart
12	chr18:7807000-7811000	Weak transcription	Adipose Nuclei	Adipose
13	chr18:7807000-7811200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr18:7807200-7811200	Weak transcription	Stomach Smooth Muscle	stomach
15	chr18:7807400-7811600	Weak transcription	HepG2	liver
16	chr18:7807800-7810400	Enhancers	Left Ventricle	heart
17	chr18:7807800-7814000	Weak transcription	Fetal Stomach	stomach
18	chr18:7808000-7809600	Enhancers	Spleen	Spleen
19	chr18:7808000-7809800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr18:7808400-7809400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
21	chr18:7808400-7809400	Weak transcription	Thymus	Thymus
22	chr18:7808400-7810200	Enhancers	HUES48 Cell Line	embryonic stem cell
23	chr18:7808400-7813200	Weak transcription	Fetal Lung	lung
24	chr18:7808600-7809800	Enhancers	HUES6 Cell Line	embryonic stem cell
25	chr18:7808600-7811800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr18:7808600-7812200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr18:7808800-7811200	Weak transcription	A549	lung
28	chr18:7808800-7812600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr18:7809000-7809600	Enhancers	Right Atrium	heart
30	chr18:7809000-7810200	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr18:7809200-7809400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr18:7809200-7809600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr18:7809200-7809600	Enhancers	H9 Cell Line	embryonic stem cell
34	chr18:7809200-7809600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr18:7809200-7809600	Enhancers	Lung	lung
36	chr18:7809200-7809800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr18:7809200-7810200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr18:7809200-7810200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr18:7809200-7810200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr18:7809200-7810600	Enhancers	Right Ventricle	heart
41	chr18:7809200-7812600	Weak transcription	Brain Anterior Caudate	brain
42	chr18:7809200-7813200	Enhancers	Skeletal Muscle Male	skeletal muscle

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