Variant report

Variant	rs58045017
Chromosome Location	chr3:42844150-42844151
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	POLR2A	chr3:42842603-42847269	HepG2	liver:	n/a	n/a
2	ZC3H11A	chr3:42844112-42845469	K562	blood:	n/a	n/a
3	POLR2A	chr3:42841822-42846994	MCF10A-Er-Src	breast:	n/a	n/a
4	EP300	chr3:42844140-42844415	K562	blood:	n/a	n/a
5	CUX1	chr3:42844113-42845090	K562	blood:	n/a	n/a
6	POLR2A	chr3:42842349-42846343	K562	blood:	n/a	n/a
7	ARID3A	chr3:42843814-42844340	HepG2	liver:	n/a	n/a
8	GATA3	chr3:42844134-42844734	SH-SY5Y	brain:	n/a	chr3:42844375-42844384 chr3:42844377-42844384 chr3:42844370-42844391 chr3:42844372-42844388 chr3:42844375-42844384 chr3:42844372-42844388 chr3:42844374-42844386 chr3:42844377-42844384 chr3:42844375-42844385 chr3:42844377-42844384
9	TAL1	chr3:42844138-42846406	K562	blood:	n/a	n/a
10	POLR2A	chr3:42843570-42846867	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:42841845..42845236-chr3:42855285..42858253,3	K562	blood:
2	chr3:42843855..42845411-chr3:42851834..42853689,2	K562	blood:
3	chr3:42843293..42845569-chr3:44276181..44278757,2	K562	blood:
4	chr3:42747563..42749919-chr3:42844077..42845877,2	K562	blood:
5	chr3:42843552..42845487-chr3:42920948..42923647,2	K562	blood:
6	chr3:42841907..42845904-chr3:42858547..42863038,5	K562	blood:
7	chr3:42542919..42545079-chr3:42843283..42845875,2	K562	blood:
8	chr3:42631172..42633792-chr3:42841692..42844503,2	K562	blood:
9	chr3:42820881..42822515-chr3:42843907..42845636,2	K562	blood:
10	chr3:42842350..42845554-chr3:42847131..42848922,4	K562	blood:

Variant related genes	Relation type
ACKR2	TF binding region
ENSG00000114812	Chromatin interaction
ENSG00000008324	Chromatin interaction
ENSG00000144648	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10865923	0.85[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11710120	0.83[ASN][1000 genomes]
rs11717346	0.87[ASN][1000 genomes]
rs11915803	0.82[EUR][1000 genomes]
rs17238798	0.82[EUR][1000 genomes]
rs339664	0.82[ASN][1000 genomes]
rs339667	0.82[ASN][1000 genomes]
rs339668	0.82[ASN][1000 genomes]
rs339676	0.82[ASN][1000 genomes]
rs4682856	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4682857	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4683336	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs55641040	0.96[ASN][1000 genomes]
rs62246629	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62246635	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs62246636	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6442057	0.81[EUR][1000 genomes]
rs6764909	0.94[ASN][1000 genomes]
rs7634876	0.98[ASN][1000 genomes]
rs9880635	0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:42822800-42844200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:42827600-42844600	Weak transcription	Primary neutrophils fromperipheralblood	blood
3	chr3:42835400-42844200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr3:42835400-42844200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr3:42835400-42844200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr3:42835400-42844200	Weak transcription	Fetal Stomach	stomach
7	chr3:42835400-42844200	Weak transcription	A549	lung
8	chr3:42835400-42844200	Weak transcription	HUVEC	blood vessel
9	chr3:42835400-42844200	Weak transcription	NHLF	lung
10	chr3:42835400-42844400	Weak transcription	Primary B cells from cord blood	blood
11	chr3:42835400-42844600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr3:42835400-42844600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr3:42835400-42844600	Weak transcription	Primary T cells fromperipheralblood	blood
14	chr3:42835400-42844600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr3:42835400-42844600	Weak transcription	Esophagus	oesophagus
16	chr3:42835400-42844600	Weak transcription	Fetal Muscle Trunk	muscle
17	chr3:42835400-42844600	Weak transcription	Lung	lung
18	chr3:42835400-42844600	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:42835400-42844800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:42835400-42844800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:42835400-42844800	Weak transcription	Ovary	ovary
22	chr3:42835600-42844200	Weak transcription	Brain Inferior Temporal Lobe	brain
23	chr3:42835600-42844200	Weak transcription	Placenta	Placenta
24	chr3:42835800-42844200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr3:42835800-42844600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:42836000-42844200	Weak transcription	Hela-S3	cervix
27	chr3:42836400-42844200	Weak transcription	HSMM	muscle
28	chr3:42837000-42844600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:42838200-42844600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr3:42838200-42844600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr3:42838400-42844200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr3:42841000-42844600	Enhancers	Colon Smooth Muscle	Colon
33	chr3:42841200-42844600	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr3:42841200-42844600	Enhancers	Primary T killer memory cells from peripheral blood	blood
35	chr3:42841400-42844600	Enhancers	Primary T cells from cord blood	blood
36	chr3:42841400-42844600	Weak transcription	Fetal Muscle Leg	muscle
37	chr3:42841600-42844400	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr3:42841600-42844800	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr3:42841800-42844200	Weak transcription	Left Ventricle	heart
40	chr3:42841800-42844600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr3:42841800-42844600	Weak transcription	Gastric	stomach
42	chr3:42841800-42844600	Weak transcription	Pancreas	Pancrea
43	chr3:42841800-42844600	Weak transcription	Spleen	Spleen
44	chr3:42842000-42844800	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr3:42842000-42844800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
46	chr3:42842200-42844400	Weak transcription	Monocytes-CD14+_RO01746	blood
47	chr3:42842200-42844800	Transcr. at gene 5' and 3'	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr3:42842400-42844200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr3:42842400-42844200	Weak transcription	Brain Germinal Matrix	brain
50	chr3:42842400-42844200	Enhancers	Duodenum Mucosa	Duodenum

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