Variant report

Variant	rs912193
Chromosome Location	chr13:49789603-49789604
allele	C/G
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	chr13:49789072-49789638	H1-hESC	embryonic stem cell:	n/a	n/a
2	USF1	chr13:49789199-49789629	H1-hESC	embryonic stem cell:	n/a	chr13:49789441-49789450 chr13:49789442-49789451 chr13:49789435-49789456 chr13:49789441-49789450
3	MAX	chr13:49789181-49789641	H1-hESC	embryonic stem cell:	n/a	n/a
4	GABPA	chr13:49789010-49789696	HL-60	blood:	n/a	n/a
5	MYC	chr13:49787737-49789657	NB4	blood:	n/a	n/a
6	MAX	chr13:49789193-49789623	Hela-S3	cervix:	n/a	n/a
7	MAX	chr13:49789155-49789640	ECC-1	luminal epithelium:	n/a	n/a
8	BHLHE40	chr13:49789291-49789626	HepG2	liver:	n/a	chr13:49789441-49789450 chr13:49789442-49789451 chr13:49789435-49789456 chr13:49789441-49789450
9	MAX	chr13:49788704-49789733	HepG2	liver:	n/a	n/a
10	POLR2A	chr13:49787122-49789611	Hela-S3	cervix:	n/a	n/a
11	MAX	chr13:49789114-49789687	ECC-1	luminal epithelium:	n/a	n/a
12	MBD4	chr13:49788849-49789617	HepG2	liver:	n/a	n/a
13	MAX	chr13:49787721-49789664	NB4	blood:	n/a	n/a
14	MAX	chr13:49789027-49789638	HCT-116	colon:	n/a	n/a
15	ELF1	chr13:49788991-49789620	HepG2	liver:	n/a	chr13:49789364-49789373
16	MAX	chr13:49788814-49789743	HepG2	liver:	n/a	n/a
17	ELF1	chr13:49789118-49789658	MCF-7	breast:	n/a	chr13:49789364-49789373
18	GABPA	chr13:49789051-49789604	MCF-7	breast:	n/a	n/a
19	POLR2A	chr13:49788862-49789667	HepG2	liver:	n/a	n/a
20	MAX	chr13:49789027-49789703	HCT-116	colon:	n/a	n/a
21	E2F6	chr13:49789175-49789610	H1-hESC	embryonic stem cell:	n/a	n/a
22	SPI1	chr13:49788801-49789672	HL-60	blood:	n/a	chr13:49789235-49789248 chr13:49789363-49789376
23	MAX	chr13:49789065-49789651	H1-hESC	embryonic stem cell:	n/a	n/a
24	GABPA	chr13:49788820-49789834	HL-60	blood:	n/a	n/a
25	POLR2A	chr13:49788915-49789605	HepG2	liver:	n/a	n/a
26	USF1	chr13:49789248-49789673	ECC-1	luminal epithelium:	n/a	chr13:49789441-49789450 chr13:49789442-49789451 chr13:49789435-49789456 chr13:49789441-49789450
27	BHLHE40	chr13:49788952-49789710	HepG2	liver:	n/a	chr13:49789441-49789450 chr13:49789442-49789451 chr13:49789435-49789456 chr13:49789441-49789450
28	POLR2A	chr13:49788804-49789633	HL-60	blood:	n/a	n/a
29	POLR2A	chr13:49788097-49789721	HL-60	blood:	n/a	n/a
30	E2F6	chr13:49789038-49789802	H1-hESC	embryonic stem cell:	n/a	n/a
31	MAX	chr13:49789162-49789628	MCF-7	breast:	n/a	n/a
32	HCFC1	chr13:49788797-49789646	Hela-S3	cervix:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:49778880..49780737-chr13:49787050..49789935,2	K562	blood:
2	chr13:49787233..49790082-chr13:49795367..49797437,2	MCF-7	breast:

Variant related genes	Relation type
MLNR	TF binding region
OGFOD1P1	TF binding region

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs1407826	0.95[ASN][1000 genomes]
rs1937182	0.85[ASN][1000 genomes]
rs1983806	0.85[ASN][1000 genomes]
rs2181906	1.00[ASN][1000 genomes]
rs2987534	0.85[ASN][1000 genomes]
rs3012124	0.85[ASN][1000 genomes]
rs3012134	0.85[ASN][1000 genomes]
rs4942806	0.95[ASN][1000 genomes]
rs6561495	0.85[ASN][1000 genomes]
rs6561498	0.85[ASN][1000 genomes]
rs6561516	0.82[ASN][1000 genomes]
rs7326409	0.95[ASN][1000 genomes]
rs7338704	0.95[ASN][1000 genomes]
rs7999767	0.95[ASN][1000 genomes]
rs912547	0.82[ASN][1000 genomes]
rs928039	0.85[ASN][1000 genomes]
rs9535196	0.82[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	nsv1049117	chr13:49089476-49928945	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv832607	chr13:49756458-49920894	Flanking Bivalent TSS/Enh Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:49748800-49790600	Weak transcription	K562	blood
2	chr13:49765600-49793800	Weak transcription	A549	lung
3	chr13:49778000-49793800	Weak transcription	Right Ventricle	heart
4	chr13:49781600-49790000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr13:49781600-49790000	Weak transcription	Brain Germinal Matrix	brain
6	chr13:49782600-49792600	Weak transcription	Stomach Smooth Muscle	stomach
7	chr13:49782800-49790200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr13:49783200-49789800	Weak transcription	Skeletal Muscle Female	skeletal muscle
9	chr13:49785200-49790600	Weak transcription	Fetal Intestine Small	intestine
10	chr13:49786400-49790800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr13:49786400-49790800	Weak transcription	Duodenum Smooth Muscle	Duodenum
12	chr13:49786600-49791000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr13:49786600-49792600	Weak transcription	Left Ventricle	heart
14	chr13:49787200-49790800	Enhancers	Primary B cells from cord blood	blood
15	chr13:49787200-49791400	Enhancers	Primary monocytes fromperipheralblood	blood
16	chr13:49787400-49789800	Enhancers	Brain Hippocampus Middle	brain
17	chr13:49787400-49791000	Enhancers	Primary B cells from peripheral blood	blood
18	chr13:49787400-49791400	Enhancers	Primary hematopoietic stem cells short term culture	blood
19	chr13:49787600-49791000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr13:49787800-49789800	Enhancers	Hela-S3	cervix
21	chr13:49788000-49791000	Enhancers	Primary hematopoietic stem cells	blood
22	chr13:49788000-49791000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr13:49788200-49789800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr13:49788600-49789800	Enhancers	ES-I3 Cell Line	embryonic stem cell
25	chr13:49788600-49789800	Enhancers	Fetal Thymus	thymus
26	chr13:49788800-49789800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
27	chr13:49788800-49789800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr13:49788800-49789800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
29	chr13:49788800-49789800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr13:49788800-49789800	Flanking Active TSS	Dnd41	blood
31	chr13:49788800-49790200	Enhancers	Primary T cells fromperipheralblood	blood
32	chr13:49788800-49791800	Enhancers	Gastric	stomach
33	chr13:49789000-49791800	Enhancers	Stomach Mucosa	stomach
34	chr13:49789400-49789800	Enhancers	Brain Anterior Caudate	brain
35	chr13:49789400-49790200	Enhancers	Monocytes-CD14+_RO01746	blood
36	chr13:49789400-49792200	Weak transcription	Pancreas	Pancrea
37	chr13:49789400-49792400	Weak transcription	Spleen	Spleen
38	chr13:49789400-49792600	Weak transcription	Lung	lung
39	chr13:49789600-49790800	Weak transcription	Fetal Heart	heart
40	chr13:49789600-49791000	Enhancers	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links