Variant report

Variant	rs34428844
Chromosome Location	chr17:46030042-46030043
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:15)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:15 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr17:46029444-46030095	HepG2	liver:	n/a	chr17:46029733-46029748
2	MYBL2	chr17:46029474-46030113	HepG2	liver:	n/a	n/a
3	MYBL2	chr17:46029378-46030092	HepG2	liver:	n/a	n/a
4	POLR2A	chr17:46029641-46030286	MCF-7	breast:	n/a	n/a
5	POLR2A	chr17:46029919-46030244	HCT-116	colon:	n/a	n/a
6	USF1	chr17:46029567-46030065	ECC-1	luminal epithelium:	n/a	chr17:46029823-46029834
7	POLR2A	chr17:46029927-46030257	MCF10A-Er-Src	breast:	n/a	n/a
8	HEY1	chr17:46029450-46030159	HepG2	liver:	n/a	n/a
9	POLR2A	chr17:46029644-46030194	HepG2	liver:	n/a	n/a
10	MAX	chr17:46029397-46030197	HepG2	liver:	n/a	n/a
11	NFIC	chr17:46029473-46030052	HepG2	liver:	n/a	n/a
12	POLR2A	chr17:46029620-46030045	HepG2	liver:	n/a	n/a
13	POLR2A	chr17:46029577-46030562	Hela-S3	cervix:	n/a	n/a
14	SP1	chr17:46029478-46030092	HepG2	liver:	n/a	n/a
15	POLR2A	chr17:46028862-46030149	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr17:45971561..45975471-chr17:46029521..46031921,4	MCF-7	breast:
2	chr17:46028612..46030985-chr17:46062999..46064940,2	MCF-7	breast:
3	chr17:45928850..45930934-chr17:46029439..46031345,2	K562	blood:
4	chr17:46027611..46030432-chr17:46048552..46050466,2	K562	blood:
5	chr17:45962826..45965067-chr17:46029549..46031610,2	MCF-7	breast:
6	chr17:46029177..46031751-chr17:46099712..46102366,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000264019	TF binding region
ENSG00000264920	Chromatin interaction
ENSG00000167182	Chromatin interaction
ENSG00000108465	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11079804	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11545723	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12948368	0.85[AMR][1000 genomes]
rs17617250	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34190379	0.84[ASN][1000 genomes]
rs35132293	0.82[AMR][1000 genomes]
rs35480192	0.85[AMR][1000 genomes]
rs4793693	0.85[AMR][1000 genomes]
rs4793734	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4794225	0.85[AMR][1000 genomes]
rs62067368	0.85[AMR][1000 genomes]
rs7503584	0.84[ASN][1000 genomes]

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	nsv498122	chr17:45763853-46064327	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
2	nsv908575	chr17:45957591-46049533	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	48 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46019800-46034200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr17:46019800-46047600	Weak transcription	Aorta	Aorta
3	chr17:46020000-46034600	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr17:46024400-46031600	Enhancers	Breast Myoepithelial Primary Cells	Breast
5	chr17:46027200-46031200	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr17:46027200-46032600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr17:46027200-46034400	Weak transcription	Hela-S3	cervix
8	chr17:46027200-46047200	Weak transcription	Spleen	Spleen
9	chr17:46027400-46030800	Strong transcription	Fetal Stomach	stomach
10	chr17:46027400-46032600	Weak transcription	NHLF	lung
11	chr17:46027400-46033800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:46027400-46033800	Weak transcription	NHDF-Ad	bronchial
13	chr17:46027400-46034000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr17:46027400-46034200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:46027400-46034400	Weak transcription	Fetal Lung	lung
16	chr17:46027400-46034600	Weak transcription	K562	blood
17	chr17:46027400-46034800	Weak transcription	NH-A	brain
18	chr17:46027600-46030200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr17:46027600-46030400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr17:46027600-46030400	Enhancers	Liver	Liver
21	chr17:46027600-46030400	Weak transcription	Brain Substantia Nigra	brain
22	chr17:46027600-46031600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr17:46027600-46032200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr17:46027600-46032600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr17:46027600-46033000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr17:46027600-46033800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr17:46027600-46034200	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr17:46027600-46034400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr17:46027600-46034800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr17:46027600-46047400	Weak transcription	Right Ventricle	heart
31	chr17:46027600-46047600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr17:46027800-46030200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr17:46027800-46030400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr17:46027800-46030400	Strong transcription	Osteobl	bone
35	chr17:46027800-46031600	Weak transcription	Small Intestine	intestine
36	chr17:46027800-46032200	Weak transcription	Primary B cells from cord blood	blood
37	chr17:46027800-46032600	Weak transcription	A549	lung
38	chr17:46027800-46032800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr17:46027800-46033600	Weak transcription	Brain Angular Gyrus	brain
40	chr17:46027800-46034000	Weak transcription	Fetal Muscle Trunk	muscle
41	chr17:46027800-46034200	Weak transcription	Primary B cells from peripheral blood	blood
42	chr17:46028000-46030200	Weak transcription	Thymus	Thymus
43	chr17:46028000-46031200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
44	chr17:46028000-46031200	Weak transcription	Esophagus	oesophagus
45	chr17:46028000-46032800	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr17:46028000-46033000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr17:46028000-46047400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr17:46028000-46047600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr17:46028200-46031000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr17:46028200-46031400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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