Variant report

Variant	rs115096670
Chromosome Location	chr4:110355463-110355464
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	MXI1	chr4:110353193-110356505	SK-N-SH	brain:	n/a	n/a
2	MXI1	chr4:110355460-110356134	GM12878	blood:	n/a	n/a
3	POLR2A	chr4:110355401-110355649	H1-hESC	embryonic stem cell:	n/a	n/a
4	EGR1	chr4:110354812-110355636	K562	blood:	n/a	chr4:110355379-110355392 chr4:110355384-110355394 chr4:110354936-110354950 chr4:110355382-110355392 chr4:110355358-110355372 chr4:110355380-110355394
5	POLR2A	chr4:110354381-110355705	K562	blood:	n/a	n/a
6	MAZ	chr4:110353711-110356050	IMR90	lung:	n/a	chr4:110355382-110355392 chr4:110355379-110355388 chr4:110354792-110354801
7	POLR2A	chr4:110354375-110355792	GM18951	blood:	n/a	n/a
8	POLR2A	chr4:110355379-110355681	HUVEC	blood vessel:	n/a	n/a
9	POLR2A	chr4:110355405-110355592	GM12878	blood:	n/a	n/a
10	POLR2A	chr4:110354384-110355487	MCF-7	breast:	n/a	n/a
11	MAX	chr4:110354272-110356028	K562	blood:	n/a	chr4:110355382-110355392 chr4:110355379-110355388 chr4:110354792-110354801
12	CTCF	chr4:110355400-110355550	HCPEpiC	choroid plexus:	n/a	n/a
13	SIN3AK20	chr4:110354473-110355765	PANC-1	pancreas:	n/a	n/a
14	MAX	chr4:110355385-110355925	ECC-1	luminal epithelium:	n/a	n/a
15	POLR2A	chr4:110354406-110355716	GM19193	blood:	n/a	n/a
16	POLR2A	chr4:110354356-110355718	GM18505	blood:	n/a	n/a
17	POLR2A	chr4:110353884-110356930	MCF10A-Er-Src	breast:	n/a	n/a
18	POLR2A	chr4:110354306-110355666	Hela-S3	cervix:	n/a	n/a
19	MXI1	chr4:110354390-110355691	HepG2	liver:	n/a	n/a
20	ZBTB7A	chr4:110354548-110355676	K562	blood:	n/a	chr4:110354723-110354732 chr4:110355541-110355550
21	SIN3A	chr4:110354343-110356379	H1-hESC	embryonic stem cell:	n/a	n/a
22	POLR2A	chr4:110355438-110355629	Hela-S3	cervix:	n/a	n/a
23	MAX	chr4:110354320-110355911	HepG2	liver:	n/a	chr4:110355382-110355392 chr4:110355379-110355388 chr4:110354792-110354801
24	REST	chr4:110353662-110356362	H1-neurons	neurons:	n/a	chr4:110354626-110354639 chr4:110354721-110354734
25	MYC	chr4:110355460-110355643	MCF-7	breast:	n/a	n/a
26	POLR2A	chr4:110355381-110355691	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr4:110354421-110355766	HEK293	kidney:	n/a	n/a
28	POLR2A	chr4:110355435-110355780	HepG2	liver:	n/a	n/a
29	MXI1	chr4:110355390-110357417	IMR90	lung:	n/a	n/a
30	EGR1	chr4:110355175-110355572	K562	blood:	n/a	chr4:110355379-110355392 chr4:110355384-110355394 chr4:110355382-110355392 chr4:110355358-110355372 chr4:110355380-110355394
31	MAZ	chr4:110354489-110355625	GM12878	blood:	n/a	chr4:110355382-110355392 chr4:110355379-110355388 chr4:110354792-110354801
32	UBTF	chr4:110354341-110355894	K562	blood:	n/a	n/a
33	POLR2A	chr4:110354344-110355694	GM12892	blood:	n/a	n/a
34	MAX	chr4:110355450-110355889	ECC-1	luminal epithelium:	n/a	n/a
35	BHLHE40	chr4:110355440-110355810	HepG2	liver:	n/a	n/a
36	EGR1	chr4:110355213-110355486	GM12878	blood:	n/a	chr4:110355379-110355392 chr4:110355384-110355394 chr4:110355382-110355392 chr4:110355358-110355372 chr4:110355380-110355394
37	ELF1	chr4:110354384-110355722	GM12878	blood:	n/a	chr4:110355573-110355585 chr4:110355388-110355400 chr4:110354940-110354953
38	UBTF	chr4:110354307-110356009	K562	blood:	n/a	n/a
39	NFIC	chr4:110355369-110355774	ECC-1	luminal epithelium:	n/a	n/a
40	SMARCB1	chr4:110354385-110355681	Hela-S3	cervix:	n/a	n/a
41	TAF1	chr4:110354350-110355642	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr4:110355447-110355497	SK-N-MC	brain:	n/a
2	chr4:110355447-110355497	Hepatocyte	liver:	n/a
3	chr4:110355447-110355497	HPAEpiC	pulmonary alveolar:	n/a
4	chr4:110355447-110355497	NH-A	brain:	n/a
5	chr4:110355447-110355497	GM06990	blood:	n/a
6	chr4:110355447-110355497	HCF	heart:	n/a
7	chr4:110355447-110355497	GM12892	blood:	n/a
8	chr4:110355447-110355497	Caco-2	colon:	n/a
9	chr4:110355447-110355497	SK-N-SH_RA	brain:	n/a
10	chr4:110355447-110355497	HUVEC	blood vessel:	n/a
11	chr4:110355447-110355497	HRPEpiC	eye:	n/a
12	chr4:110355447-110355497	SAEC	small airway:	n/a
13	chr4:110355447-110355497	K562	blood:	n/a
14	chr4:110355447-110355497	RPTEC	kidney:	n/a
15	chr4:110355447-110355497	ovcar-3	ovarian:	n/a
16	chr4:110355447-110355497	AG09319	gingival:	n/a
17	chr4:110355447-110355497	AG04449	skin:	fetal
18	chr4:110355447-110355497	HRE	kidney:	n/a
19	chr4:110355447-110355497	AG04450	lung:	fetal
20	chr4:110355447-110355497	CMK	blood:	n/a
21	chr4:110355447-110355497	GM12878	blood:	n/a
22	chr4:110355447-110355497	NHBE	bronchial:	n/a
23	chr4:110355447-110355497	NHDF-neo	bronchial:	n/a
24	chr4:110355447-110355497	SK-N-SH	brain:	n/a
25	chr4:110355447-110355497	NB4	blood:	n/a
26	chr4:110355447-110355497	SKMC	muscle:	n/a
27	chr4:110355447-110355497	HCT-116	colon:	n/a
28	chr4:110355447-110355497	HEEpiC	esophagus:	n/a
29	chr4:110355447-110355497	HepG2	liver:	n/a
30	chr4:110355447-110355497	HL-60	blood:	n/a
31	chr4:110355447-110355497	H1-hESC	embryonic stem cell:	embryo
32	chr4:110355447-110355497	BE2_C	brain:	n/a
33	chr4:110355447-110355497	MCF-7	breast:	n/a
34	chr4:110355447-110355497	A549	lung:	n/a
35	chr4:110355447-110355497	IMR90	lung:	fetal
36	chr4:110355447-110355497	Jurkat	blood:	n/a
37	chr4:110355447-110355497	AG10803	skin:	n/a
38	chr4:110355447-110355497	HCPEpiC	choroid plexus:	n/a
39	chr4:110355447-110355497	PANC-1	pancreas:	n/a
40	chr4:110355447-110355497	PFSK-1	brain:	n/a
41	chr4:110355447-110355497	HMEC	breast:	n/a
42	chr4:110355447-110355497	GM19239	blood:	n/a
43	chr4:110355447-110355497	BJ	skin:	n/a
44	chr4:110355447-110355497	U87	brain:	n/a
45	chr4:110355447-110355497	NT2-D1	testis:	n/a
46	chr4:110355447-110355497	Hela-S3	cervix:	n/a
47	chr4:110355447-110355497	HIPEpiC	eye:	n/a
48	chr4:110355447-110355497	MCF10A-Er-Src	breast:	n/a
49	chr4:110355447-110355497	HRCEpiC	kidney:	n/a
50	chr4:110355447-110355497	GM12891	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr4:110353826..110356085-chr4:110735938..110738635,3	MCF-7	breast:
2	chr4:110351870..110353542-chr4:110355047..110357946,2	MCF-7	breast:
3	chr14:105261712..105263242-chr4:110355266..110356786,2	MCF-7	breast:
4	chr4:109540362..109542277-chr4:110353620..110356489,2	K562	blood:
5	chr4:110354680..110356371-chr4:110650734..110652526,2	MCF-7	breast:
6	chr4:110353323..110356452-chr4:110478874..110481567,4	MCF-7	breast:

Variant related genes	Relation type
SEC24B-AS1	TF binding region
SEC24B-AS1	CpG island
ENSG00000109534	Chromatin interaction
ENSG00000234492	Chromatin interaction
ENSG00000142208	Chromatin interaction
ENSG00000005059	Chromatin interaction
ENSG00000123739	Chromatin interaction
ENSG00000272795	Chromatin interaction
ENSG00000109475	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv461613	chr4:109922064-110593460	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv595129	chr4:109922064-110593460	Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv1793428	chr4:110340134-110355591	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
4	esv3349784	chr4:110348873-110723163	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
5	esv1840909	chr4:110350409-110355591	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	esv3325631	chr4:110354028-110356876	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
7	esv3341942	chr4:110354303-110356451	Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Enhancers Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	esv18036	chr4:110354603-110355647	Active TSS Bivalent/Poised TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
9	nsv595135	chr4:110354632-110355483	Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
10	nsv595136	chr4:110354632-110355591	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
11	esv1836921	chr4:110354632-110370867	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	esv1839822	chr4:110354632-110370867	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv595140	chr4:110354691-110355483	Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv595141	chr4:110354742-110355483	Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:110353400-110356600	Active TSS	K562	blood
2	chr4:110353600-110357000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr4:110353800-110356000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:110353800-110356000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr4:110353800-110356000	Active TSS	Fetal Intestine Large	intestine
6	chr4:110353800-110356400	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr4:110353800-110356400	Active TSS	HSMM	muscle
8	chr4:110353800-110356600	Active TSS	H1 Cell Line	embryonic stem cell
9	chr4:110353800-110356800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr4:110353800-110357000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr4:110354000-110355600	Active TSS	Primary T cells fromperipheralblood	blood
12	chr4:110354000-110355600	Active TSS	Fetal Muscle Trunk	muscle
13	chr4:110354000-110355600	Active TSS	Rectal Mucosa Donor 29	rectum
14	chr4:110354000-110355800	Active TSS	Thymus	Thymus
15	chr4:110354000-110356000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr4:110354000-110356000	Active TSS	Esophagus	oesophagus
17	chr4:110354000-110356000	Active TSS	Fetal Brain Female	brain
18	chr4:110354000-110356000	Active TSS	Fetal Stomach	stomach
19	chr4:110354000-110356200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr4:110354000-110356200	Active TSS	H9 Cell Line	embryonic stem cell
21	chr4:110354000-110356200	Bivalent/Poised TSS	HepG2	liver
22	chr4:110354000-110356400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
23	chr4:110354000-110356400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr4:110354000-110356400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr4:110354000-110356400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr4:110354000-110356400	Active TSS	Brain Germinal Matrix	brain
27	chr4:110354000-110356400	Active TSS	Right Ventricle	heart
28	chr4:110354000-110356600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr4:110354000-110356800	Active TSS	ES-I3 Cell Line	embryonic stem cell
30	chr4:110354000-110356800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr4:110354000-110356800	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr4:110354000-110356800	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr4:110354000-110356800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
34	chr4:110354000-110356800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr4:110354000-110356800	Active TSS	Colonic Mucosa	Colon
36	chr4:110354000-110356800	Active TSS	Right Atrium	heart
37	chr4:110354000-110356800	Active TSS	A549	lung
38	chr4:110354000-110356800	Active TSS	NHDF-Ad	bronchial
39	chr4:110354000-110357000	Active TSS	HMEC	breast
40	chr4:110354200-110355800	Active TSS	iPS-18 Cell Line	embryonic stem cell
41	chr4:110354200-110355800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr4:110354200-110355800	Active TSS	Fetal Muscle Leg	muscle
43	chr4:110354200-110355800	Active TSS	Placenta	Placenta
44	chr4:110354200-110356000	Active TSS	HUES64 Cell Line	embryonic stem cell
45	chr4:110354200-110356000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr4:110354200-110356000	Active TSS	Brain Anterior Caudate	brain
47	chr4:110354200-110356000	Active TSS	Fetal Intestine Small	intestine
48	chr4:110354200-110356000	Active TSS	Fetal Lung	lung
49	chr4:110354200-110356000	Active TSS	Placenta Amnion	Placenta Amnion
50	chr4:110354200-110356000	Active TSS	Hela-S3	cervix

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links