Variant report

Variant	rs112592638
Chromosome Location	chr5:74348833-74348834
allele	C/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	CTCF	chr5:74348800-74348950	GM12875	blood:	n/a	chr5:74348931-74348944
2	POLR2A	chr5:74348201-74349803	MCF10A-Er-Src	breast:	n/a	n/a
3	HA-E2F1	chr5:74348422-74350010	MCF-7	breast:	n/a	chr5:74349216-74349223 chr5:74348925-74348934 chr5:74348992-74349002 chr5:74348929-74348938 chr5:74349212-74349224 chr5:74348773-74348787 chr5:74349216-74349223 chr5:74348770-74348784 chr5:74349215-74349224 chr5:74348828-74348837 chr5:74348825-74348835 chr5:74349213-74349227 chr5:74349216-74349223 chr5:74348824-74348834
4	POLR2A	chr5:74348543-74348922	Hela-S3	cervix:	n/a	n/a
5	MAX	chr5:74348107-74350140	A549	lung:	n/a	chr5:74349168-74349178 chr5:74349342-74349352 chr5:74349317-74349326
6	ZNF263	chr5:74348697-74350032	HEK293-T-REx	kidney:	n/a	n/a
7	CHD1	chr5:74347519-74350428	H1-hESC	embryonic stem cell:	n/a	n/a
8	MAX	chr5:74348653-74349368	Hela-S3	cervix:	n/a	chr5:74349168-74349178 chr5:74349342-74349352 chr5:74349317-74349326
9	RFX5	chr5:74348707-74349171	Hela-S3	cervix:	n/a	n/a
10	TCF7L2	chr5:74348460-74348887	PANC-1	pancreas:	n/a	n/a
11	POLR2A	chr5:74348269-74349771	MCF10A-Er-Src	breast:	n/a	n/a
12	MAX	chr5:74348302-74350086	A549	lung:	n/a	chr5:74349168-74349178 chr5:74349342-74349352 chr5:74349317-74349326
13	HA-E2F1	chr5:74348326-74349360	Hela-S3	cervix:	n/a	chr5:74349216-74349223 chr5:74348925-74348934 chr5:74348992-74349002 chr5:74348929-74348938 chr5:74349212-74349224 chr5:74348773-74348787 chr5:74349216-74349223 chr5:74348770-74348784 chr5:74349215-74349224 chr5:74348828-74348837 chr5:74348825-74348835 chr5:74349213-74349227 chr5:74349216-74349223 chr5:74348824-74348834
14	JUND	chr5:74348772-74349051	H1-hESC	embryonic stem cell:	n/a	chr5:74348820-74348834
15	CTCF	chr5:74348538-74349663	GM12878	blood:	n/a	chr5:74349084-74349097 chr5:74348931-74348944 chr5:74348985-74348998 chr5:74349166-74349179 chr5:74348986-74348999
16	SIN3A	chr5:74348209-74350460	H1-hESC	embryonic stem cell:	n/a	chr5:74350029-74350040 chr5:74348893-74348906 chr5:74349002-74349015
17	TAF7	chr5:74347951-74350547	H1-hESC	embryonic stem cell:	n/a	n/a
18	MAZ	chr5:74348470-74349322	Hela-S3	cervix:	n/a	chr5:74349168-74349178
19	CTCF	chr5:74348700-74348850	GM12871	blood:	n/a	n/a
20	TBP	chr5:74348194-74348873	H1-hESC	embryonic stem cell:	n/a	n/a
21	SMC3	chr5:74348285-74349347	Hela-S3	cervix:	n/a	chr5:74348934-74348944 chr5:74349084-74349098 chr5:74348988-74348998 chr5:74349091-74349098
22	BACH1	chr5:74348686-74350492	H1-hESC	embryonic stem cell:	n/a	n/a
23	YY1	chr5:74348830-74349621	HepG2	liver:	n/a	chr5:74349168-74349182 chr5:74348889-74348903 chr5:74348985-74348999 chr5:74349167-74349176 chr5:74349165-74349179 chr5:74349378-74349392 chr5:74349376-74349387 chr5:74348995-74349006 chr5:74349171-74349182 chr5:74348929-74348938 chr5:74348886-74348900 chr5:74348991-74349005 chr5:74349387-74349401 chr5:74348930-74348944
24	E2F4	chr5:74348672-74349772	MCF10A-Er-Src	breast:	n/a	chr5:74349216-74349223 chr5:74348925-74348934 chr5:74348992-74349002 chr5:74348929-74348938 chr5:74349212-74349224 chr5:74348773-74348787 chr5:74349216-74349223 chr5:74348770-74348784 chr5:74349215-74349224 chr5:74348828-74348837 chr5:74348825-74348835 chr5:74349213-74349227 chr5:74349216-74349223 chr5:74348824-74348834
25	POLR2A	chr5:74340910-74352626	H1-hESC	embryonic stem cell:	n/a	n/a
26	RAD21	chr5:74348661-74349250	Hela-S3	cervix:	n/a	chr5:74348683-74348693 chr5:74349102-74349116 chr5:74348932-74348944 chr5:74349084-74349098
27	POLR2A	chr5:74348735-74348894	Hela-S3	cervix:	n/a	n/a
28	SMARCB1	chr5:74348241-74349402	Hela-S3	cervix:	n/a	n/a
29	E2F6	chr5:74348518-74349653	H1-hESC	embryonic stem cell:	n/a	chr5:74349216-74349223 chr5:74348925-74348934 chr5:74348992-74349002 chr5:74348929-74348938 chr5:74349212-74349224 chr5:74348773-74348787 chr5:74349216-74349223 chr5:74348770-74348784 chr5:74349215-74349224 chr5:74348828-74348837 chr5:74348825-74348835 chr5:74349213-74349227 chr5:74349216-74349223 chr5:74348824-74348834
30	POLR2A	chr5:74348718-74349944	MCF-7	breast:	n/a	n/a
31	POLR2A	chr5:74348072-74351062	H1-hESC	embryonic stem cell:	n/a	n/a
32	HDAC2	chr5:74348652-74349884	MCF-7	breast:	n/a	chr5:74348835-74348844
33	ELF1	chr5:74348233-74349202	GM12878	blood:	n/a	n/a

Variant related genes	Relation type
ENSG00000250889	TF binding region

Extended variants
information (count: 17 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018865	chr5:74246293-74494552	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	esv1835096	chr5:74336883-74356857	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
3	nsv598654	chr5:74345369-74351228	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
4	esv3421723	chr5:74346596-74351294	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
5	esv3439111	chr5:74348021-74350569	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	esv19960	chr5:74348649-74349569	Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	nsv598655	chr5:74348676-74349212	Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
8	nsv598656	chr5:74348676-74349367	Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
9	nsv598657	chr5:74348676-74349488	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
10	nsv598658	chr5:74348676-74349500	Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
11	nsv598659	chr5:74348739-74348841	Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region	1 gene(s)	inside rSNPs	n/a
12	nsv598660	chr5:74348739-74349265	Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	n/a
13	nsv598661	chr5:74348739-74349367	Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
14	nsv598662	chr5:74348739-74349488	Bivalent/Poised TSS Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
15	nsv598663	chr5:74348739-74349500	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
16	nsv598664	chr5:74348790-74349367	Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a
17	nsv598665	chr5:74348790-74349437	Active TSS Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74346000-74350200	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr5:74346400-74350400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
3	chr5:74347000-74350000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
4	chr5:74347000-74350000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr5:74347000-74350200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr5:74347000-74350800	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr5:74347400-74349800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr5:74347400-74350000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
9	chr5:74347400-74350000	Active TSS	Brain Anterior Caudate	brain
10	chr5:74347400-74350200	Active TSS	Pancreas	Pancrea
11	chr5:74347400-74350200	Active TSS	Stomach Mucosa	stomach
12	chr5:74347400-74350200	Active TSS	NHDF-Ad	bronchial
13	chr5:74347400-74350400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr5:74347400-74350400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr5:74347400-74350400	Active TSS	Gastric	stomach
16	chr5:74347600-74349800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr5:74347600-74349800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr5:74347600-74349800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
19	chr5:74347600-74349800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr5:74347600-74349800	Active TSS	Fetal Thymus	thymus
21	chr5:74347600-74349800	Active TSS	Skeletal Muscle Female	skeletal muscle
22	chr5:74347600-74349800	Active TSS	Thymus	Thymus
23	chr5:74347600-74350000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr5:74347600-74350000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr5:74347600-74350000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr5:74347600-74350000	Active TSS	Primary T helper naive cells from peripheral blood	blood
27	chr5:74347600-74350000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr5:74347600-74350000	Active TSS	Primary T killer memory cells from peripheral blood	blood
29	chr5:74347600-74350000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr5:74347600-74350000	Active TSS	Fetal Intestine Small	intestine
31	chr5:74347600-74350200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
32	chr5:74347600-74350200	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr5:74347600-74350200	Active TSS	Fetal Intestine Large	intestine
34	chr5:74347600-74350400	Active TSS	Aorta	Aorta
35	chr5:74347600-74350400	Active TSS	Colon Smooth Muscle	Colon
36	chr5:74347600-74350600	Active TSS	H9 Cell Line	embryonic stem cell
37	chr5:74347600-74350600	Active TSS	Breast Myoepithelial Primary Cells	Breast
38	chr5:74347800-74349200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
39	chr5:74347800-74349600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr5:74347800-74349800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr5:74347800-74349800	Active TSS	Primary T helper cells PMA-I stimulated	--
42	chr5:74347800-74350000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
43	chr5:74347800-74350000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr5:74347800-74350000	Active TSS	NHLF	lung
45	chr5:74347800-74350200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr5:74347800-74350200	Active TSS	Brain Angular Gyrus	brain
47	chr5:74347800-74350200	Active TSS	Stomach Smooth Muscle	stomach
48	chr5:74347800-74350200	Active TSS	A549	lung
49	chr5:74348000-74349600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
50	chr5:74348000-74349800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links