Variant report

Variant	rs73652680
Chromosome Location	chr9:101649338-101649339
allele	G/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	GATA2	chr9:101649033-101649482	K562	blood:	n/a	chr9:101649346-101649357 chr9:101649216-101649226
2	EP300	chr9:101648978-101649534	K562	blood:	n/a	chr9:101649232-101649241
3	MAFK	chr9:101649035-101649464	K562	blood:	n/a	chr9:101649231-101649246
4	IRF1	chr9:101648649-101649432	K562	blood:	n/a	chr9:101649027-101649034 chr9:101648761-101648775
5	MAFF	chr9:101649059-101649354	K562	blood:	n/a	n/a
6	GATA1	chr9:101648626-101649862	K562	blood:	n/a	chr9:101649346-101649357 chr9:101649216-101649226
7	TCF7L2	chr9:101648894-101649542	Hela-S3	cervix:	n/a	n/a
8	GATA2	chr9:101648997-101649479	HUVEC	blood vessel:	n/a	chr9:101649346-101649357 chr9:101649216-101649226
9	SPI1	chr9:101649034-101649476	K562	blood:	n/a	chr9:101649167-101649174 chr9:101649230-101649243
10	TRIM28	chr9:101649113-101649466	K562	blood:	n/a	chr9:101649302-101649310
11	HCFC1	chr9:101649155-101649492	K562	blood:	n/a	n/a
12	ELF1	chr9:101649088-101649418	K562	blood:	n/a	chr9:101649229-101649242
13	MEF2A	chr9:101649082-101649449	K562	blood:	n/a	n/a
14	ZNF384	chr9:101649239-101649340	K562	blood:	n/a	n/a
15	NR2F2	chr9:101649099-101649462	K562	blood:	n/a	n/a
16	JUN	chr9:101648897-101649374	K562	blood:	n/a	chr9:101649139-101649151 chr9:101649336-101649344
17	ATF1	chr9:101648999-101649512	K562	blood:	n/a	n/a
18	TBL1XR1	chr9:101648887-101649488	K562	blood:	n/a	n/a
19	TEAD4	chr9:101648903-101649745	K562	blood:	n/a	n/a
20	JUND	chr9:101648987-101649523	K562	blood:	n/a	chr9:101649139-101649151 chr9:101649336-101649344
21	ZC3H11A	chr9:101648950-101649397	K562	blood:	n/a	n/a
22	CUX1	chr9:101649054-101649493	K562	blood:	n/a	n/a
23	TAL1	chr9:101649118-101649480	K562	blood:	n/a	n/a
24	PML	chr9:101648968-101649508	K562	blood:	n/a	chr9:101649302-101649310
25	TFAP2C	chr9:101648973-101649404	Hela-S3	cervix:	n/a	n/a
26	CCNT2	chr9:101649102-101649482	K562	blood:	n/a	n/a
27	BHLHE40	chr9:101649106-101649478	K562	blood:	n/a	n/a
28	REST	chr9:101648982-101649410	PFSK-1	brain:	n/a	n/a
29	REST	chr9:101648979-101649478	K562	blood:	n/a	n/a
30	RCOR1	chr9:101648987-101649627	K562	blood:	n/a	n/a
31	NFYA	chr9:101649229-101649462	K562	blood:	n/a	n/a
32	MAZ	chr9:101649101-101649563	K562	blood:	n/a	n/a
33	GATA2	chr9:101649036-101649536	K562	blood:	n/a	chr9:101649346-101649357 chr9:101649216-101649226
34	MEF2A	chr9:101648990-101649486	K562	blood:	n/a	n/a
35	MYC	chr9:101649076-101649432	K562	blood:	n/a	n/a
36	JUN	chr9:101648897-101651071	K562	blood:	n/a	chr9:101649139-101649151 chr9:101649336-101649344
37	HMGN3	chr9:101649151-101649476	K562	blood:	n/a	n/a
38	UBTF	chr9:101649186-101649489	K562	blood:	n/a	n/a
39	RCOR1	chr9:101649058-101649657	K562	blood:	n/a	n/a
40	ARID3A	chr9:101648960-101649378	K562	blood:	n/a	n/a
41	MAX	chr9:101649227-101649474	K562	blood:	n/a	n/a
42	KAP1	chr9:101649114-101649603	HEK293	kidney:	n/a	chr9:101649302-101649310
43	ZMIZ1	chr9:101649104-101649627	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:101648399..101651466-chr9:101677907..101680771,3	K562	blood:
2	chr9:101640327..101646617-chr9:101647381..101650682,9	K562	blood:
3	chr9:101648521..101650624-chr9:101669197..101672005,2	K562	blood:

Variant related genes	Relation type
ENSG00000229338	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs55662923	1.00[AFR][1000 genomes]
rs73655906	1.00[AFR][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	nsv614936	chr9:101182698-101680380	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv893614	chr9:101340316-101671634	Enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv893615	chr9:101356515-101678036	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:41 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:101643000-101652600	Weak transcription	Gastric	stomach
2	chr9:101643200-101649600	Weak transcription	Fetal Stomach	stomach
3	chr9:101643200-101652600	Weak transcription	Pancreas	Pancrea
4	chr9:101643400-101650400	Weak transcription	Colon Smooth Muscle	Colon
5	chr9:101643400-101651000	Weak transcription	Fetal Muscle Trunk	muscle
6	chr9:101643800-101653000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
7	chr9:101646000-101653000	Enhancers	Fetal Muscle Leg	muscle
8	chr9:101646200-101649400	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr9:101647000-101652600	Enhancers	Adipose Nuclei	Adipose
10	chr9:101647600-101651000	Enhancers	Hela-S3	cervix
11	chr9:101647800-101652800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr9:101648000-101649800	Bivalent Enhancer	HUVEC	blood vessel
13	chr9:101648000-101651400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr9:101648200-101651600	Weak transcription	Ovary	ovary
15	chr9:101648200-101651600	Enhancers	HSMMtube	muscle
16	chr9:101648200-101652200	Enhancers	NHDF-Ad	bronchial
17	chr9:101648200-101652800	Weak transcription	Lung	lung
18	chr9:101648800-101649600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr9:101648800-101649600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr9:101648800-101649800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr9:101648800-101650600	Weak transcription	HSMM	muscle
22	chr9:101648800-101652600	Weak transcription	Fetal Heart	heart
23	chr9:101648800-101653200	Enhancers	Right Atrium	heart
24	chr9:101649000-101649400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr9:101649000-101649800	Enhancers	Primary monocytes fromperipheralblood	blood
26	chr9:101649000-101649800	Enhancers	Primary hematopoietic stem cells short term culture	blood
27	chr9:101649000-101649800	Enhancers	Fetal Lung	lung
28	chr9:101649000-101649800	Enhancers	Placenta	Placenta
29	chr9:101649200-101649400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr9:101649200-101649400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
31	chr9:101649200-101649600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr9:101649200-101649600	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr9:101649200-101649600	Enhancers	Psoas Muscle	Psoas
34	chr9:101649200-101649600	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr9:101649200-101649800	Enhancers	Right Ventricle	heart
36	chr9:101649200-101649800	Flanking Active TSS	K562	blood
37	chr9:101649200-101650400	Weak transcription	NHLF	lung
38	chr9:101649200-101650400	Weak transcription	Osteobl	bone
39	chr9:101649200-101650800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr9:101649200-101650800	Enhancers	Spleen	Spleen
41	chr9:101649200-101653000	Enhancers	Left Ventricle	heart

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