Variant report

Variant	rs34622900
Chromosome Location	chr9:103117992-103117993
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	ELF1	chr9:103117912-103118316	GM12878	blood:	n/a	chr9:103118095-103118108
2	RFX5	chr9:103117875-103118226	GM12878	blood:	n/a	chr9:103118054-103118069
3	RFX5	chr9:103117917-103118212	Hela-S3	cervix:	n/a	chr9:103118054-103118069
4	POU2F2	chr9:103117840-103118208	GM12891	blood:	n/a	n/a
5	RFX5	chr9:103117844-103118223	K562	blood:	n/a	chr9:103118054-103118069
6	RFX5	chr9:103117859-103118261	HepG2	liver:	n/a	chr9:103118054-103118069
7	CREB1	chr9:103117873-103118287	GM12878	blood:	n/a	n/a
8	CREB1	chr9:103117930-103118333	GM12878	blood:	n/a	n/a
9	RFX5	chr9:103117700-103118418	SK-N-SH	brain:	n/a	chr9:103118054-103118069
10	ELF1	chr9:103117919-103118251	K562	blood:	n/a	chr9:103118095-103118108

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr9:103112743..103119519-chr9:103186928..103191502,9	MCF-7	breast:

Variant related genes	Relation type
TEX10	TF binding region
ENSG00000066697	Chromatin interaction

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:56)

rs_ID	r²[population]
rs11998985	0.91[EUR][1000 genomes]
rs13284374	0.91[EUR][1000 genomes]
rs13286077	0.91[EUR][1000 genomes]
rs13287099	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13290328	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13290330	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13290800	0.91[EUR][1000 genomes]
rs13293829	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13294600	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs13296977	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13297769	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs13298673	0.91[EUR][1000 genomes]
rs13301192	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13302253	0.91[EUR][1000 genomes]
rs13302469	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs34069247	0.91[EUR][1000 genomes]
rs34089428	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34092424	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34104764	0.91[EUR][1000 genomes]
rs34169614	0.92[EUR][1000 genomes]
rs34179958	0.91[EUR][1000 genomes]
rs34314753	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34332248	0.91[EUR][1000 genomes]
rs34407044	0.91[EUR][1000 genomes]
rs34553251	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34696628	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34727324	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34821647	0.91[EUR][1000 genomes]
rs34831686	1.00[EUR][1000 genomes]
rs34872449	0.91[EUR][1000 genomes]
rs34919065	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35051712	1.00[EUR][1000 genomes]
rs35123004	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35166393	0.91[EUR][1000 genomes]
rs35415036	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35427402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35439180	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35550115	0.91[EUR][1000 genomes]
rs35563956	0.91[EUR][1000 genomes]
rs35575118	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35747178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35747546	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35801424	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35970442	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35982519	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35998454	0.91[EUR][1000 genomes]
rs36068962	0.91[EUR][1000 genomes]
rs36082352	0.91[EUR][1000 genomes]
rs36148968	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71507670	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71507673	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71507674	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71507676	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71507677	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs71507679	0.91[EUR][1000 genomes]
rs71507680	0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531599	chr9:102227922-103156864	Active TSS Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv893623	chr9:102648036-103405197	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:27 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:103115800-103119400	Weak transcription	Ovary	ovary
2	chr9:103115800-103119800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr9:103115800-103119800	Weak transcription	HUVEC	blood vessel
4	chr9:103116200-103118200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr9:103116200-103118400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
6	chr9:103116200-103118600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:103116200-103118800	Weak transcription	Right Ventricle	heart
8	chr9:103116200-103119200	Weak transcription	NHEK	skin
9	chr9:103116200-103119800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr9:103116200-103122400	Weak transcription	Fetal Heart	heart
11	chr9:103116200-103123400	Weak transcription	Fetal Muscle Leg	muscle
12	chr9:103116200-103126000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:103116400-103118200	ZNF genes & repeats	Primary hematopoietic stem cells	blood
14	chr9:103116400-103118400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr9:103116400-103118600	Weak transcription	Fetal Kidney	kidney
16	chr9:103116400-103119200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr9:103116600-103120800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr9:103116600-103131000	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr9:103116800-103120600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr9:103117200-103120000	Weak transcription	HepG2	liver
21	chr9:103117200-103125800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr9:103117400-103121000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr9:103117400-103128400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr9:103117600-103122200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr9:103117800-103118200	Enhancers	Primary B cells from peripheral blood	blood
26	chr9:103117800-103118800	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr9:103117800-103120000	Enhancers	Primary neutrophils fromperipheralblood	blood

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