Variant report

Variant	rs74106943
Chromosome Location	chr13:98020082-98020083
allele	A/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	POLR2A	chr13:98019240-98020216	U87	brain:	n/a	n/a
2	POLR2A	chr13:98019240-98020210	U87	brain:	n/a	n/a
3	POLR2A	chr13:98019982-98020171	HepG2	liver:	n/a	n/a
4	CEBPB	chr13:98019424-98020083	IMR90	lung:	n/a	n/a
5	POLR2A	chr13:98019711-98020139	SK-N-SH	brain:	n/a	n/a
6	MYC	chr13:98019285-98020186	NB4	blood:	n/a	chr13:98019922-98019933 chr13:98019561-98019571 chr13:98019813-98019822
7	MAX	chr13:98019262-98020163	NB4	blood:	n/a	chr13:98019922-98019933 chr13:98019561-98019571 chr13:98019813-98019822
8	POLR2A	chr13:98014322-98022665	K562	blood:	n/a	n/a
9	PBX3	chr13:98019891-98020096	GM12878	blood:	n/a	n/a
10	POLR2A	chr13:98019691-98020259	HepG2	liver:	n/a	n/a
11	MXI1	chr13:98019068-98020148	IMR90	lung:	n/a	n/a
12	POLR2A	chr13:98019252-98020201	U87	brain:	n/a	n/a

Variant related genes	Relation type
RNA5SP37	TF binding region

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs55786426	1.00[AMR][1000 genomes]
rs56265337	1.00[AMR][1000 genomes]
rs56330757	1.00[AMR][1000 genomes]
rs56396307	1.00[AMR][1000 genomes]
rs57122527	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58215626	0.94[AFR][1000 genomes]
rs58319854	1.00[AMR][1000 genomes]
rs59441671	1.00[AMR][1000 genomes]
rs60276769	1.00[AMR][1000 genomes]
rs60791550	1.00[AMR][1000 genomes]
rs60954566	1.00[AMR][1000 genomes]
rs61086335	1.00[AMR][1000 genomes]
rs61649100	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7335097	1.00[AMR][1000 genomes]
rs74105068	1.00[AMR][1000 genomes]
rs74105069	1.00[AMR][1000 genomes]
rs74105076	1.00[AMR][1000 genomes]
rs74105168	1.00[AMR][1000 genomes]
rs74105466	1.00[AMR][1000 genomes]
rs74105468	1.00[AMR][1000 genomes]
rs74105475	1.00[AMR][1000 genomes]
rs74105476	1.00[AMR][1000 genomes]
rs74105499	1.00[AMR][1000 genomes]
rs74105501	1.00[AMR][1000 genomes]
rs74106253	1.00[AMR][1000 genomes]
rs74106255	1.00[AMR][1000 genomes]
rs74106912	1.00[AMR][1000 genomes]
rs74106938	1.00[AMR][1000 genomes]
rs74106939	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74106946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74108410	1.00[AMR][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	nsv832694	chr13:97930561-98137882	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
2	nsv1038798	chr13:98008467-98068130	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:97982600-98020800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr13:97991600-98020800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr13:97992800-98020800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr13:97995400-98050200	Weak transcription	Small Intestine	intestine
5	chr13:98002400-98027200	Weak transcription	Lung	lung
6	chr13:98002400-98039600	Weak transcription	Spleen	Spleen
7	chr13:98002600-98021600	Weak transcription	Colonic Mucosa	Colon
8	chr13:98003200-98021200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr13:98004000-98021000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr13:98005400-98021600	Weak transcription	Thymus	Thymus
11	chr13:98006600-98020600	Strong transcription	HUVEC	blood vessel
12	chr13:98010000-98027400	Weak transcription	Esophagus	oesophagus
13	chr13:98010800-98027400	Weak transcription	Placenta Amnion	Placenta Amnion
14	chr13:98011800-98020800	Weak transcription	Stomach Mucosa	stomach
15	chr13:98012200-98020400	Strong transcription	Fetal Lung	lung
16	chr13:98012800-98020200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr13:98013000-98020200	Strong transcription	Primary T cells from cord blood	blood
18	chr13:98013800-98021200	Weak transcription	NHEK	skin
19	chr13:98015200-98036600	Weak transcription	Fetal Heart	heart
20	chr13:98015600-98020400	Strong transcription	HepG2	liver
21	chr13:98015800-98020400	Strong transcription	K562	blood
22	chr13:98015800-98023600	Weak transcription	Gastric	stomach
23	chr13:98016400-98020600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr13:98016800-98020400	Strong transcription	Ovary	ovary
25	chr13:98017000-98021000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
26	chr13:98017200-98023600	Weak transcription	Fetal Muscle Trunk	muscle
27	chr13:98017400-98021000	Weak transcription	Primary T helper cells PMA-I stimulated	--
28	chr13:98018400-98020200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr13:98018400-98020400	Strong transcription	Fetal Intestine Large	intestine
30	chr13:98018400-98020600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
31	chr13:98018400-98020600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr13:98018400-98020600	Strong transcription	Stomach Smooth Muscle	stomach
33	chr13:98018400-98025000	Weak transcription	Fetal Brain Male	brain
34	chr13:98018600-98020200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr13:98018600-98020200	Strong transcription	Aorta	Aorta
36	chr13:98018600-98020200	Genic enhancers	Liver	Liver
37	chr13:98018600-98020200	Genic enhancers	Left Ventricle	heart
38	chr13:98018600-98020200	Strong transcription	Sigmoid Colon	Sigmoid Colon
39	chr13:98018600-98020200	Genic enhancers	Skeletal Muscle Female	skeletal muscle
40	chr13:98018600-98020400	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr13:98018600-98020400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
42	chr13:98018600-98020400	Genic enhancers	Fetal Muscle Leg	muscle
43	chr13:98018600-98020600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr13:98018600-98020600	Strong transcription	Fetal Intestine Small	intestine
45	chr13:98018600-98021200	Weak transcription	Primary B cells from cord blood	blood
46	chr13:98018600-98021200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr13:98018600-98021400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr13:98018600-98021400	Enhancers	Brain Angular Gyrus	brain
49	chr13:98018600-98021600	Enhancers	Brain Cingulate Gyrus	brain
50	chr13:98019000-98020800	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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