Variant report

Variant	rs952278
Chromosome Location	chr9:104207320-104207321
allele	G/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	TEAD4	chr9:104206871-104208516	HepG2	liver:	n/a	n/a
2	EP300	chr9:104207181-104208461	HepG2	liver:	n/a	chr9:104207841-104207855 chr9:104207854-104207868
3	FOXA1	chr9:104207245-104208344	HepG2	liver:	n/a	chr9:104207485-104207497
4	ARID3A	chr9:104207280-104208125	HepG2	liver:	n/a	n/a
5	FOXA1	chr9:104207225-104208448	HepG2	liver:	n/a	chr9:104207485-104207497
6	MYBL2	chr9:104207260-104208443	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:104190295..104194061-chr9:104205470..104208320,4	K562	blood:

Variant related genes	Relation type
ENSG00000270982	TF binding region
ENSG00000136872	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10760796	0.95[CHB][hapmap];0.95[CHD][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs10819935	0.96[ASN][1000 genomes]
rs1929479	0.98[ASN][1000 genomes]
rs2065394	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2065395	0.92[ASN][1000 genomes]
rs2183745	0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs476668	0.89[ASN][1000 genomes]
rs477578	0.89[CHB][hapmap];0.89[JPT][hapmap];0.92[ASN][1000 genomes]
rs479600	0.95[CHB][hapmap];0.95[CHD][hapmap];0.85[GIH][hapmap];0.90[JPT][hapmap];0.92[ASN][1000 genomes]
rs570071	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs573816	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs62575781	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6479052	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7038252	0.99[ASN][1000 genomes]
rs7853147	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs952279	1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046975	chr9:104167583-104659873	Weak transcription Flanking Active TSS Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv893626	chr9:104172936-104324545	Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv614962	chr9:104204614-104240708	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:104197000-104211400	Weak transcription	Right Atrium	heart
2	chr9:104197400-104209600	Enhancers	Fetal Intestine Large	intestine
3	chr9:104204800-104211400	Weak transcription	Left Ventricle	heart
4	chr9:104205000-104209600	Enhancers	Fetal Intestine Small	intestine
5	chr9:104205200-104208000	Enhancers	Colon Smooth Muscle	Colon
6	chr9:104205600-104211400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr9:104205800-104207600	Enhancers	Duodenum Mucosa	Duodenum
8	chr9:104205800-104208200	Enhancers	Brain Hippocampus Middle	brain
9	chr9:104205800-104211000	Weak transcription	Fetal Heart	heart
10	chr9:104206000-104209000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr9:104206000-104210800	Weak transcription	Psoas Muscle	Psoas
12	chr9:104206200-104207600	Weak transcription	Brain Substantia Nigra	brain
13	chr9:104206200-104207600	Enhancers	Pancreatic Islets	Pancreatic Islet
14	chr9:104206200-104207600	Weak transcription	Stomach Mucosa	stomach
15	chr9:104206400-104207600	Weak transcription	Brain Angular Gyrus	brain
16	chr9:104206400-104207600	Weak transcription	Brain Cingulate Gyrus	brain
17	chr9:104206400-104207600	Weak transcription	Brain Inferior Temporal Lobe	brain
18	chr9:104206400-104211400	Weak transcription	Brain Germinal Matrix	brain
19	chr9:104206600-104210800	Weak transcription	Fetal Brain Female	brain
20	chr9:104207000-104210800	Weak transcription	Fetal Muscle Leg	muscle
21	chr9:104207000-104211400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr9:104207000-104211400	Weak transcription	Pancreas	Pancrea
23	chr9:104207200-104207400	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr9:104207200-104207800	Weak transcription	Brain Anterior Caudate	brain
25	chr9:104207200-104208200	Flanking Active TSS	Liver	Liver
26	chr9:104207200-104208600	Flanking Active TSS	HepG2	liver

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