Variant report

Variant	rs4718440
Chromosome Location	chr7:66462679-66462680
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	CEBPB	chr7:66462627-66462823	HepG2	liver:	n/a	chr7:66462671-66462682
2	CEBPB	chr7:66462618-66462723	HepG2	liver:	n/a	chr7:66462671-66462682
3	CEBPB	chr7:66462591-66462764	MCF-7	breast:	n/a	chr7:66462671-66462682
4	CEBPB	chr7:66462630-66462739	A549	lung:	n/a	chr7:66462671-66462682

No.	Distal block	Cell Line	Cell type
1	chr7:66307509..66310194-chr7:66460135..66463061,3	K562	blood:
2	chr7:66380078..66382132-chr7:66461899..66464169,2	MCF-7	breast:
3	chr7:66385188..66388317-chr7:66459133..66463010,3	K562	blood:
4	chr7:66384595..66388317-chr7:66459135..66463010,5	K562	blood:

Variant related genes	Relation type
SBDS	TF binding region
ENSG00000106609	Chromatin interaction
ENSG00000230583	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11766621	0.85[ASN][1000 genomes]
rs4718439	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4718441	0.85[ASN][1000 genomes]
rs4718442	0.83[ASN][1000 genomes]
rs4718443	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs6969553	0.85[AMR][1000 genomes]
rs7790453	0.85[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	esv2758118	chr7:66401430-66859253	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	esv2759535	chr7:66401430-66859253	Weak transcription Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	nsv1032575	chr7:66432853-66576034	Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4718440	TYW1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66458600-66462800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:66458800-66463000	Active TSS	Hela-S3	cervix
3	chr7:66459000-66462800	Active TSS	Right Atrium	heart
4	chr7:66459000-66463000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:66459000-66463200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:66459000-66463200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:66459200-66462800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr7:66459200-66463000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr7:66459400-66462800	Active TSS	Fetal Intestine Small	intestine
10	chr7:66459400-66462800	Active TSS	Thymus	Thymus
11	chr7:66459400-66463000	Active TSS	H1 Cell Line	embryonic stem cell
12	chr7:66459400-66463000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:66459400-66463000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:66459400-66463000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr7:66459400-66463000	Active TSS	Duodenum Mucosa	Duodenum
16	chr7:66459400-66463200	Active TSS	K562	blood
17	chr7:66459600-66463000	Active TSS	Fetal Intestine Large	intestine
18	chr7:66459600-66463200	Active TSS	iPS-20b Cell Line	embryonic stem cell
19	chr7:66460000-66462800	Active TSS	Dnd41	blood
20	chr7:66462000-66463200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr7:66462200-66464000	Weak transcription	Spleen	Spleen
22	chr7:66462200-66470400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr7:66462200-66482600	Weak transcription	Aorta	Aorta
24	chr7:66462400-66462800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr7:66462400-66462800	Active TSS	Primary T killer memory cells from peripheral blood	blood
26	chr7:66462400-66462800	Active TSS	HepG2	liver
27	chr7:66462400-66463000	Enhancers	Primary T cells fromperipheralblood	blood
28	chr7:66462400-66463200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:66462400-66463200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
30	chr7:66462400-66463800	Weak transcription	Primary B cells from peripheral blood	blood
31	chr7:66462400-66464000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr7:66462400-66464200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr7:66462400-66469200	Weak transcription	Fetal Lung	lung
34	chr7:66462400-66470600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr7:66462400-66470600	Weak transcription	Placenta	Placenta
36	chr7:66462400-66470600	Weak transcription	Ovary	ovary
37	chr7:66462400-66470800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:66462400-66470800	Weak transcription	Lung	lung
39	chr7:66462400-66471000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr7:66462400-66472200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:66462400-66472200	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr7:66462400-66475400	Weak transcription	Colon Smooth Muscle	Colon
43	chr7:66462400-66475800	Weak transcription	Right Ventricle	heart
44	chr7:66462400-66476000	Weak transcription	Colonic Mucosa	Colon
45	chr7:66462400-66476400	Weak transcription	Gastric	stomach
46	chr7:66462400-66478400	Weak transcription	Pancreas	Pancrea
47	chr7:66462400-66479400	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr7:66462400-66482200	Weak transcription	Small Intestine	intestine
49	chr7:66462400-66482600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
50	chr7:66462400-66490000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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