Variant report

Variant	rs7048631
Chromosome Location	chr9:71390051-71390052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr9:71389798-71390596	K562	blood:	n/a	n/a
2	CEBPB	chr9:71389822-71390229	K562	blood:	n/a	n/a
3	JUND	chr9:71389880-71390651	K562	blood:	n/a	n/a
4	CEBPB	chr9:71389863-71390678	Hela-S3	cervix:	n/a	n/a
5	MAZ	chr9:71389947-71390186	K562	blood:	n/a	n/a
6	TBL1XR1	chr9:71389954-71390216	K562	blood:	n/a	n/a
7	MAFK	chr9:71390003-71390343	K562	blood:	n/a	chr9:71390238-71390253
8	CEBPB	chr9:71389893-71390151	K562	blood:	n/a	n/a
9	EP300	chr9:71389653-71390279	K562	blood:	n/a	n/a
10	CUX1	chr9:71389919-71390153	K562	blood:	n/a	n/a
11	EP300	chr9:71389927-71390544	Hela-S3	cervix:	n/a	n/a
12	CEBPB	chr9:71389926-71390123	H1-hESC	embryonic stem cell:	n/a	n/a
13	MYC	chr9:71389823-71390641	K562	blood:	n/a	n/a
14	ATF1	chr9:71389970-71390619	K562	blood:	n/a	n/a
15	RCOR1	chr9:71389757-71390646	K562	blood:	n/a	n/a
16	HCFC1	chr9:71390023-71390120	K562	blood:	n/a	n/a
17	TEAD4	chr9:71389820-71390602	K562	blood:	n/a	n/a
18	CEBPB	chr9:71389843-71390615	K562	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr9:71388257..71390428-chr9:71458098..71459800,2	K562	blood:
2	chr9:71388169..71391635-chr9:71392576..71396316,4	MCF-7	breast:
3	chr9:71382624..71385471-chr9:71389854..71391837,2	K562	blood:
4	chr9:71362013..71363947-chr9:71388418..71390450,2	K562	blood:

No data

Variant related genes	Relation type
FAM122A	TF binding region
ENSG00000236733	Chromatin interaction
ENSG00000187866	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11143619	0.85[EUR][1000 genomes]
rs11143645	0.84[EUR][1000 genomes]
rs11143693	0.88[EUR][1000 genomes]
rs11143715	0.95[ASN][1000 genomes]
rs11143739	0.93[EUR][1000 genomes]
rs12006032	0.83[EUR][1000 genomes]
rs12336702	0.98[ASN][1000 genomes]
rs12339235	0.81[ASN][1000 genomes]
rs12340532	0.98[ASN][1000 genomes]
rs12342394	0.87[EUR][1000 genomes]
rs58363478	0.87[ASN][1000 genomes]
rs58984094	0.86[ASN][1000 genomes]
rs6560361	0.98[ASN][1000 genomes]
rs7030788	0.80[EUR][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	nsv1032210	chr9:71130848-71511987	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats 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	esv2422258	chr9:71234845-71663340	Enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
3	nsv1017903	chr9:71276951-71690579	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:22 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:71378400-71394200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr9:71378800-71393800	Weak transcription	Primary B cells from cord blood	blood
3	chr9:71378800-71393800	Weak transcription	Primary B cells from peripheral blood	blood
4	chr9:71383600-71393800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr9:71383800-71393600	Weak transcription	Left Ventricle	heart
6	chr9:71384000-71394200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr9:71385600-71393800	Weak transcription	Small Intestine	intestine
8	chr9:71385800-71393400	Weak transcription	Fetal Intestine Small	intestine
9	chr9:71385800-71393800	Weak transcription	Right Ventricle	heart
10	chr9:71386200-71393600	Weak transcription	Primary hematopoietic stem cells	blood
11	chr9:71386400-71390200	Enhancers	Fetal Heart	heart
12	chr9:71386400-71392000	Weak transcription	Stomach Mucosa	stomach
13	chr9:71386600-71393200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr9:71387000-71394200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr9:71387200-71393800	Weak transcription	Fetal Intestine Large	intestine
16	chr9:71389000-71390800	Enhancers	K562	blood
17	chr9:71389200-71393800	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr9:71389600-71393400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr9:71389800-71390600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr9:71390000-71390400	Enhancers	Aorta	Aorta
21	chr9:71390000-71390600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr9:71390000-71390600	Enhancers	Skeletal Muscle Female	skeletal muscle

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