Variant report

Variant	rs73954674
Chromosome Location	chr18:29267471-29267472
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:6)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:6 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr18:29267400-29267550	HEEpiC	esophagus:	n/a	n/a
2	CTCF	chr18:29267440-29267590	HRPEpiC	eye:	n/a	n/a
3	CTCF	chr18:29267340-29267490	GM12864	blood:	n/a	n/a
4	CTCF	chr18:29267400-29267550	HCM	heart:	n/a	n/a
5	CTCF	chr18:29267400-29267550	AG04450	lung:	n/a	n/a
6	CTCF	chr18:29267440-29267590	HCT-116	colon:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr18:29266991..29268512-chr18:29271793..29273586,2	K562	blood:
2	chr18:29257336..29259422-chr18:29266158..29267928,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-TTR-1	chr18:29264688-29267822	NONHSAT058829

No data

Variant related genes	Relation type
B4GALT6	TF binding region

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16962318	0.94[ASN][1000 genomes]
rs28552758	0.82[AFR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7240561	0.88[ASN][1000 genomes]
rs73954675	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73956431	0.94[EUR][1000 genomes]
rs8084681	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8084785	0.94[EUR][1000 genomes]
rs9949056	0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:29265600-29267600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
2	chr18:29265600-29267600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
3	chr18:29265600-29268000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr18:29266000-29267600	Flanking Active TSS	GM12878-XiMat	blood
5	chr18:29266200-29268600	Weak transcription	Stomach Mucosa	stomach
6	chr18:29266400-29267800	Enhancers	iPS-15b Cell Line	embryonic stem cell
7	chr18:29266400-29267800	Enhancers	iPS-18 Cell Line	embryonic stem cell
8	chr18:29266400-29268000	Enhancers	HUES48 Cell Line	embryonic stem cell
9	chr18:29266400-29268600	Weak transcription	Adipose Nuclei	Adipose
10	chr18:29266400-29268600	Weak transcription	Fetal Thymus	thymus
11	chr18:29266400-29268600	Weak transcription	Thymus	Thymus
12	chr18:29266400-29269200	Enhancers	HUES6 Cell Line	embryonic stem cell
13	chr18:29266400-29269400	Enhancers	Dnd41	blood
14	chr18:29266600-29268000	Enhancers	HUES64 Cell Line	embryonic stem cell
15	chr18:29266800-29267600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr18:29267000-29267600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr18:29267200-29267600	Enhancers	ES-I3 Cell Line	embryonic stem cell
18	chr18:29267200-29267600	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr18:29267200-29267600	Enhancers	Fetal Intestine Small	intestine
20	chr18:29267200-29269200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr18:29267200-29282600	Weak transcription	H9 Cell Line	embryonic stem cell
22	chr18:29267400-29267600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr18:29267400-29267600	Enhancers	iPS-20b Cell Line	embryonic stem cell
24	chr18:29267400-29267600	Flanking Active TSS	Primary hematopoietic stem cells	blood
25	chr18:29267400-29267600	Enhancers	Hela-S3	cervix

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