Variant report

Variant	rs4743151
Chromosome Location	chr9:100753123-100753124
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr9:100752483-100753127	GM12878	blood:	n/a	n/a
2	CEBPB	chr9:100753029-100753229	A549	lung:	n/a	n/a
3	POLR2A	chr9:100753119-100753663	HepG2	liver:	n/a	n/a
4	POLR2A	chr9:100753064-100753782	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
2	chr9:100685740..100686377-chr9:100751902..100753253,4	MCF-7	breast:
3	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
4	chr9:100751400..100754135-chr9:100768209..100771208,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000236896	TF binding region
ENSG00000136932	Chromatin interaction
ENSG00000201830	Chromatin interaction
ENSG00000136929	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs12001675	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12554172	0.92[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3739672	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4742711	0.93[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4743150	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6478522	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7019033	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7041878	0.88[ASN][1000 genomes]
rs7850685	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7855432	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs874610	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs957955	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893612	chr9:100732802-100754703	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100748000-100753800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr9:100748000-100754000	Enhancers	Primary B cells from peripheral blood	blood
3	chr9:100748000-100754600	Weak transcription	Brain Substantia Nigra	brain
4	chr9:100748000-100756800	Enhancers	Primary T helper cells fromperipheralblood	blood
5	chr9:100748000-100760400	Weak transcription	Fetal Kidney	kidney
6	chr9:100748000-100760800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr9:100748000-100767200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr9:100748200-100755000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr9:100748200-100756800	Enhancers	Colon Smooth Muscle	Colon
10	chr9:100748400-100761600	Weak transcription	Brain Anterior Caudate	brain
11	chr9:100748600-100754600	Weak transcription	Colonic Mucosa	Colon
12	chr9:100748600-100755400	Weak transcription	Brain Angular Gyrus	brain
13	chr9:100748600-100757600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr9:100748800-100755000	Enhancers	HepG2	liver
15	chr9:100748800-100755400	Enhancers	A549	lung
16	chr9:100748800-100756200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
17	chr9:100748800-100756200	Enhancers	Primary T killer memory cells from peripheral blood	blood
18	chr9:100748800-100756600	Enhancers	Primary T helper naive cells from peripheral blood	blood
19	chr9:100748800-100756800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
20	chr9:100749000-100756400	Enhancers	Primary hematopoietic stem cells	blood
21	chr9:100749000-100756800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
22	chr9:100749000-100757800	Weak transcription	Fetal Stomach	stomach
23	chr9:100749200-100754200	Weak transcription	Duodenum Mucosa	Duodenum
24	chr9:100749200-100754400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr9:100749200-100754600	Weak transcription	Gastric	stomach
26	chr9:100749200-100754800	Enhancers	Primary T cells from cord blood	blood
27	chr9:100749200-100767200	Weak transcription	Esophagus	oesophagus
28	chr9:100749400-100754400	Weak transcription	Fetal Lung	lung
29	chr9:100749400-100754600	Weak transcription	Rectal Mucosa Donor 29	rectum
30	chr9:100750000-100753400	Weak transcription	Primary monocytes fromperipheralblood	blood
31	chr9:100750000-100753800	Enhancers	Thymus	Thymus
32	chr9:100750000-100755200	Enhancers	Primary T helper cells PMA-I stimulated	--
33	chr9:100750000-100755400	Weak transcription	Brain Cingulate Gyrus	brain
34	chr9:100750000-100755600	Enhancers	Primary hematopoietic stem cells short term culture	blood
35	chr9:100750000-100767200	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr9:100750000-100767400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr9:100750200-100756000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr9:100750400-100755200	Weak transcription	Brain Germinal Matrix	brain
39	chr9:100750400-100755200	Enhancers	Hela-S3	cervix
40	chr9:100750400-100757400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr9:100750600-100753200	Enhancers	HSMM	muscle
42	chr9:100750600-100753800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr9:100750600-100753800	Genic enhancers	Fetal Thymus	thymus
44	chr9:100750600-100757200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr9:100750800-100753200	Enhancers	Muscle Satellite Cultured Cells	--
46	chr9:100750800-100753400	Weak transcription	Liver	Liver
47	chr9:100750800-100753600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr9:100750800-100756800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr9:100750800-100757000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
50	chr9:100750800-100764000	Weak transcription	Fetal Brain Female	brain

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