Variant report

Variant	rs73183196
Chromosome Location	chr2:11885232-11885233
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	MAX	chr2:11884708-11887762	HepG2	liver:	n/a	chr2:11886898-11886908 chr2:11886778-11886787
2	CTCF	chr2:11885180-11885330	GM12868	blood:	n/a	n/a
3	POLR2A	chr2:11885120-11885481	K562	blood:	n/a	n/a
4	MAZ	chr2:11884013-11885624	K562	blood:	n/a	n/a
5	MAX	chr2:11885175-11885489	K562	blood:	n/a	n/a
6	EP300	chr2:11884033-11885602	K562	blood:	n/a	chr2:11884174-11884181
7	ELF1	chr2:11885225-11885582	HepG2	liver:	n/a	n/a
8	CTCF	chr2:11885160-11885310	GM06990	blood:	n/a	n/a
9	CTCF	chr2:11885229-11885629	HepG2	liver:	n/a	n/a
10	MAFK	chr2:11884137-11885467	HepG2	liver:	n/a	chr2:11884687-11884698 chr2:11884920-11884931 chr2:11884921-11884932 chr2:11884920-11884931 chr2:11884921-11884932 chr2:11884916-11884931
11	E2F6	chr2:11885020-11885494	K562	blood:	n/a	n/a
12	TCF7L2	chr2:11885059-11885557	Hela-S3	cervix:	n/a	n/a
13	KAP1	chr2:11883924-11885548	HEK293	kidney:	n/a	n/a
14	NR2F2	chr2:11883634-11885680	K562	blood:	n/a	n/a
15	TEAD4	chr2:11885133-11885596	K562	blood:	n/a	n/a
16	MAFF	chr2:11884038-11885511	HepG2	liver:	n/a	chr2:11884915-11884933
17	MAFK	chr2:11884103-11885509	H1-hESC	embryonic stem cell:	n/a	chr2:11884687-11884698 chr2:11884920-11884931 chr2:11884921-11884932 chr2:11884920-11884931 chr2:11884921-11884932 chr2:11884916-11884931
18	YY1	chr2:11885225-11885538	K562	blood:	n/a	n/a
19	CTCF	chr2:11885200-11885350	GM12865	blood:	n/a	n/a
20	ZNF263	chr2:11883917-11885440	HEK293-T-REx	kidney:	n/a	chr2:11884861-11884870 chr2:11884260-11884281 chr2:11884270-11884279
21	HEY1	chr2:11885129-11885463	K562	blood:	n/a	n/a
22	RCOR1	chr2:11882940-11885622	K562	blood:	n/a	n/a
23	GATA1	chr2:11884062-11885572	PBDE	blood:	n/a	chr2:11884285-11884292
24	POLR2A	chr2:11885190-11885486	K562	blood:	n/a	n/a
25	MAX	chr2:11884884-11885606	K562	blood:	n/a	n/a
26	CTCF	chr2:11883295-11885691	A549	lung:	n/a	chr2:11883633-11883646 chr2:11883630-11883643 chr2:11883635-11883645
27	RCOR1	chr2:11884984-11885547	K562	blood:	n/a	n/a
28	BCL3	chr2:11883899-11885397	A549	lung:	n/a	n/a
29	TEAD4	chr2:11884890-11885629	K562	blood:	n/a	n/a
30	GABPA	chr2:11885157-11885479	K562	blood:	n/a	n/a
31	POLR2A	chr2:11885052-11885467	K562	blood:	n/a	n/a
32	MXI1	chr2:11883755-11885707	SK-N-SH	brain:	n/a	n/a
33	RAD21	chr2:11885183-11885607	HepG2	liver:	n/a	n/a
34	HCFC1	chr2:11885055-11885518	K562	blood:	n/a	n/a
35	GATA2	chr2:11885204-11885580	K562	blood:	n/a	n/a
36	E2F6	chr2:11885124-11885531	H1-hESC	embryonic stem cell:	n/a	n/a
37	MBD4	chr2:11885181-11885653	HepG2	liver:	n/a	n/a
38	MAFF	chr2:11884036-11885556	K562	blood:	n/a	chr2:11884915-11884933
39	IRF1	chr2:11883919-11885483	K562	blood:	n/a	chr2:11884493-11884505 chr2:11884491-11884505 chr2:11884492-11884505 chr2:11884492-11884502
40	YY1	chr2:11885213-11885593	HepG2	liver:	n/a	n/a
41	CTCF	chr2:11885164-11885645	K562	blood:	n/a	n/a
42	MYBL2	chr2:11885013-11885724	HepG2	liver:	n/a	n/a
43	CHD2	chr2:11884042-11885410	K562	blood:	n/a	n/a
44	CBX3	chr2:11885118-11885560	K562	blood:	n/a	n/a
45	UBTF	chr2:11884059-11885520	K562	blood:	n/a	n/a
46	CTCF	chr2:11885227-11885643	K562	blood:	n/a	n/a
47	POLR2A	chr2:11883176-11885464	K562	blood:	n/a	n/a
48	CTCF	chr2:11885232-11885574	K562	blood:	n/a	n/a
49	JUND	chr2:11883498-11885610	SK-N-SH	brain:	n/a	chr2:11884384-11884396 chr2:11884385-11884395 chr2:11884385-11884395 chr2:11884386-11884394 chr2:11883863-11883874 chr2:11884384-11884395 chr2:11884385-11884395
50	E2F6	chr2:11885017-11885508	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr2:11883702..11885372-chr2:11901343..11903845,2	K562	blood:
2	chr2:11881178..11885762-chr2:11886043..11889477,7	MCF-7	breast:
3	chr2:11604833..11608003-chr2:11882353..11886330,4	K562	blood:
4	chr2:11678361..11681033-chr2:11884649..11887386,2	MCF-7	breast:

Variant related genes	Relation type
LPIN1	TF binding region
ENSG00000196208	Chromatin interaction
ENSG00000264010	Chromatin interaction
ENSG00000134324	Chromatin interaction
ENSG00000169016	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs73183110	1.00[AMR][1000 genomes]
rs73183192	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs893348	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010506	chr2:11430965-12057286	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv535585	chr2:11430965-12057286	Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv1003899	chr2:11789374-12248081	Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	26 gene(s)	inside rSNPs	diseases
4	nsv580973	chr2:11864946-11898931	Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
5	nsv580974	chr2:11867841-11898931	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:11882400-11886200	Enhancers	NHDF-Ad	bronchial
2	chr2:11882600-11885400	Flanking Bivalent TSS/Enh	HepG2	liver
3	chr2:11882600-11886800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr2:11882800-11885400	Enhancers	Pancreas	Pancrea
5	chr2:11882800-11886000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr2:11882800-11886200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr2:11882800-11886400	Enhancers	Fetal Thymus	thymus
8	chr2:11882800-11886600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr2:11883000-11885600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:11883000-11886200	Enhancers	Fetal Muscle Leg	muscle
11	chr2:11883200-11885400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr2:11883200-11886000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:11883400-11885600	Flanking Active TSS	K562	blood
14	chr2:11883400-11886200	Enhancers	Fetal Intestine Large	intestine
15	chr2:11883400-11886200	Enhancers	Fetal Intestine Small	intestine
16	chr2:11883400-11886400	Enhancers	Fetal Heart	heart
17	chr2:11883400-11886400	Enhancers	Stomach Mucosa	stomach
18	chr2:11883400-11887000	Enhancers	Placenta	Placenta
19	chr2:11883600-11885800	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr2:11883600-11886200	Enhancers	Primary T helper cells PMA-I stimulated	--
21	chr2:11883600-11886200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr2:11883600-11886200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:11883600-11886400	Enhancers	Primary B cells from peripheral blood	blood
24	chr2:11883600-11886400	Enhancers	Ovary	ovary
25	chr2:11883600-11886400	Enhancers	Sigmoid Colon	Sigmoid Colon
26	chr2:11883600-11886800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr2:11883800-11885400	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr2:11883800-11885400	Flanking Active TSS	A549	lung
29	chr2:11883800-11885400	Enhancers	Dnd41	blood
30	chr2:11883800-11885600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr2:11883800-11885600	Enhancers	HUES48 Cell Line	embryonic stem cell
32	chr2:11883800-11885600	Enhancers	Cortex derived primary cultured neurospheres	brain
33	chr2:11883800-11885600	Enhancers	Fetal Stomach	stomach
34	chr2:11883800-11885600	Enhancers	NH-A	brain
35	chr2:11883800-11886000	Enhancers	Brain Angular Gyrus	brain
36	chr2:11883800-11886200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
37	chr2:11883800-11886200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr2:11883800-11886200	Enhancers	Colon Smooth Muscle	Colon
39	chr2:11883800-11886200	Enhancers	Right Ventricle	heart
40	chr2:11883800-11886400	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr2:11883800-11886400	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr2:11883800-11886400	Enhancers	Left Ventricle	heart
43	chr2:11883800-11886800	Enhancers	Lung	lung
44	chr2:11883800-11886800	Enhancers	Spleen	Spleen
45	chr2:11884000-11885400	Enhancers	iPS-15b Cell Line	embryonic stem cell
46	chr2:11884000-11885400	Enhancers	iPS-18 Cell Line	embryonic stem cell
47	chr2:11884000-11885400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr2:11884000-11885400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
49	chr2:11884000-11885400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
50	chr2:11884000-11886200	Enhancers	Primary hematopoietic stem cells	blood

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