Variant report

Variant	rs4798757
Chromosome Location	chr18:9018463-9018464
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	JUN	chr18:9016466-9019412	K562	blood:	n/a	chr18:9017164-9017173 chr18:9017281-9017293 chr18:9017755-9017763 chr18:9017283-9017291 chr18:9017255-9017263 chr18:9018108-9018117
2	SMARCA4	chr18:9016795-9018667	K562	blood:	n/a	chr18:9017282-9017291 chr18:9017255-9017264 chr18:9017754-9017763
3	RCOR1	chr18:9016939-9018821	K562	blood:	n/a	n/a
4	MAX	chr18:9018391-9018546	NB4	blood:	n/a	chr18:9018530-9018540

No.	Distal block	Cell Line	Cell type
1	chr18:8877075..8878575-chr18:9017207..9019686,2	K562	blood:
2	chr18:9016661..9019620-chr18:9053656..9055788,2	K562	blood:
3	chr18:9018123..9019834-chr18:9100436..9102568,2	K562	blood:
4	chr18:9018098..9020147-chr18:9136029..9138091,2	K562	blood:
5	chr18:9004232..9006580-chr18:9014168..9018915,5	K562	blood:
6	chr18:9016942..9019623-chr18:9100436..9104243,3	K562	blood:
7	chr18:9016746..9019530-chr18:9039553..9041915,2	K562	blood:

Variant related genes	Relation type
RPS4XP19	TF binding region
ENSG00000266053	Chromatin interaction
ENSG00000265257	Chromatin interaction
ENSG00000101745	Chromatin interaction
ENSG00000178127	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12957034	1.00[YRI][hapmap]

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	nsv1064883	chr18:8709670-9133224	Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv870110	chr18:8958418-9075363	Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr18:9016600-9018800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr18:9017800-9018800	Enhancers	Primary hematopoietic stem cells short term culture	blood
3	chr18:9017800-9019000	Enhancers	HUVEC	blood vessel
4	chr18:9018000-9019200	Enhancers	Muscle Satellite Cultured Cells	--
5	chr18:9018000-9022400	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr18:9018000-9022400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr18:9018000-9022400	Weak transcription	Esophagus	oesophagus
8	chr18:9018200-9018600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr18:9018200-9018600	Enhancers	NHLF	lung
10	chr18:9018200-9018800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr18:9018200-9018800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr18:9018200-9018800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr18:9018200-9018800	Enhancers	Hela-S3	cervix
14	chr18:9018200-9018800	Enhancers	NH-A	brain
15	chr18:9018200-9018800	Enhancers	NHDF-Ad	bronchial
16	chr18:9018200-9018800	Enhancers	Osteobl	bone
17	chr18:9018200-9019000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr18:9018200-9019400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
19	chr18:9018200-9020800	Enhancers	HMEC	breast
20	chr18:9018200-9020800	Enhancers	NHEK	skin
21	chr18:9018200-9022400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
22	chr18:9018200-9022400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
23	chr18:9018200-9022400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr18:9018200-9025000	Weak transcription	HSMM	muscle
25	chr18:9018400-9018800	Enhancers	K562	blood
26	chr18:9018400-9019000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr18:9018400-9019600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr18:9018400-9020400	Weak transcription	A549	lung
29	chr18:9018400-9028600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow

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