Variant report

Variant	rs11709121
Chromosome Location	chr3:142371574-142371575
allele	A/C
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	MAFK	chr3:142371549-142372162	K562	blood:	n/a	chr3:142371900-142371910 chr3:142371900-142371909 chr3:142371895-142371910
2	MAFF	chr3:142371475-142372153	K562	blood:	n/a	n/a
3	BACH1	chr3:142371509-142372137	K562	blood:	n/a	n/a
4	SPI1	chr3:142371443-142371599	K562	blood:	n/a	n/a
5	BHLHE40	chr3:142371389-142372288	K562	blood:	n/a	n/a
6	MAX	chr3:142371554-142371742	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr3:142366648..142369083-chr3:142371257..142373675,2	K562	blood:
2	chr3:142369264..142373195-chr3:142384252..142386650,3	K562	blood:
3	chr3:142313746..142316334-chr3:142369087..142372070,2	MCF-7	breast:

Variant related genes	Relation type
PLS1	TF binding region
ENSG00000120756	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs11714087	1.00[CEU][hapmap];0.86[GIH][hapmap];0.96[TSI][hapmap];0.86[EUR][1000 genomes]
rs11719960	1.00[AFR][1000 genomes]
rs1403726	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs2049329	0.85[EUR][1000 genomes]
rs2140435	0.88[EUR][1000 genomes]
rs2140436	0.86[EUR][1000 genomes]
rs2272150	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs55951550	0.88[EUR][1000 genomes]
rs56328361	0.83[EUR][1000 genomes]
rs6440100	0.87[EUR][1000 genomes]
rs73228752	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs73228759	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes]
rs73230564	0.82[EUR][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	nsv932989	chr3:142204208-142423305	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:25 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142364400-142371800	Weak transcription	HepG2	liver
2	chr3:142365000-142371600	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr3:142366000-142435400	Weak transcription	Colonic Mucosa	Colon
4	chr3:142367800-142375400	Weak transcription	Duodenum Mucosa	Duodenum
5	chr3:142367800-142375400	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr3:142369200-142379200	Weak transcription	Dnd41	blood
7	chr3:142369400-142371600	Weak transcription	NH-A	brain
8	chr3:142369400-142408400	Weak transcription	Pancreas	Pancrea
9	chr3:142369600-142371600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:142369600-142375800	Weak transcription	Sigmoid Colon	Sigmoid Colon
11	chr3:142369800-142371800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr3:142370200-142372600	Strong transcription	Fetal Intestine Small	intestine
13	chr3:142370800-142372200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr3:142371000-142372000	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:142371000-142393800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr3:142371200-142371800	Enhancers	H1 Cell Line	embryonic stem cell
17	chr3:142371200-142372800	Enhancers	A549	lung
18	chr3:142371400-142371600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr3:142371400-142371600	Enhancers	Aorta	Aorta
20	chr3:142371400-142371800	Transcr. at gene 5' and 3'	K562	blood
21	chr3:142371400-142372000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr3:142371400-142372000	Weak transcription	Liver	Liver
23	chr3:142371400-142372000	Strong transcription	Rectal Mucosa Donor 31	rectum
24	chr3:142371400-142372200	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr3:142371400-142372400	Enhancers	Ovary	ovary

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