Variant report

Variant	rs535519947
Chromosome Location	chr4:91048250-91048251
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	GATA2	chr4:91047829-91049296	SH-SY5Y	brain:	n/a	chr4:91049230-91049240
2	POLR2A	chr4:91048249-91049524	ProgFib	skin:	n/a	n/a
3	KAP1	chr4:91048220-91048858	U2OS	brain:	n/a	n/a
4	RAD21	chr4:91048061-91049024	MCF-7	breast:	n/a	n/a
5	POLR2A	chr4:91048233-91049369	GM12892	blood:	n/a	n/a
6	POLR2A	chr4:91048207-91049876	MCF-7	breast:	n/a	n/a
7	SIN3AK20	chr4:91048246-91048982	HCT-116	colon:	n/a	n/a
8	POLR2A	chr4:91048211-91050043	H1-neurons	neurons:	n/a	n/a
9	POLR2A	chr4:91048222-91050382	GM19193	blood:	n/a	n/a
10	NFIC	chr4:91048229-91049038	ECC-1	luminal epithelium:	n/a	n/a
11	TEAD4	chr4:91048188-91048834	ECC-1	luminal epithelium:	n/a	n/a
12	SPI1	chr4:91048096-91048423	GM12891	blood:	n/a	chr4:91048264-91048277
13	POLR2A	chr4:91047576-91050111	H1-neurons	neurons:	n/a	n/a
14	SPI1	chr4:91048098-91048473	HL-60	blood:	n/a	chr4:91048264-91048277
15	MAX	chr4:91048193-91050044	ECC-1	luminal epithelium:	n/a	chr4:91049872-91049881 chr4:91049221-91049230
16	MAFK	chr4:91048231-91048363	H1-hESC	embryonic stem cell:	n/a	n/a
17	SIN3AK20	chr4:91048048-91049178	MCF-7	breast:	n/a	n/a
18	POLR2A	chr4:91048241-91049293	HCT-116	colon:	n/a	n/a
19	TAF1	chr4:91048238-91049099	H1-neurons	neurons:	n/a	n/a
20	POLR2A	chr4:91048203-91049141	PFSK-1	brain:	n/a	n/a
21	REST	chr4:91047900-91049061	H1-neurons	neurons:	n/a	chr4:91048192-91048212 chr4:91048549-91048562 chr4:91048198-91048207
22	TCF12	chr4:91048214-91049102	ECC-1	luminal epithelium:	n/a	n/a
23	POLR2A	chr4:91048187-91049954	MCF-7	breast:	n/a	n/a
24	BACH1	chr4:91048205-91048813	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr4:91048170-91050729	GM12891	blood:	n/a	n/a
26	HA-E2F1	chr4:91048085-91050032	MCF-7	breast:	n/a	chr4:91049160-91049169 chr4:91049040-91049050 chr4:91049115-91049129 chr4:91049389-91049399
27	POLR2A	chr4:91048245-91050014	GM18951	blood:	n/a	n/a
28	MAX	chr4:91048229-91050072	MCF-7	breast:	n/a	chr4:91049872-91049881 chr4:91049221-91049230
29	POLR2A	chr4:91048176-91049406	HCT-116	colon:	n/a	n/a
30	HDAC2	chr4:91048186-91048840	MCF-7	breast:	n/a	n/a
31	POLR2A	chr4:91048190-91049908	MCF-7	breast:	n/a	n/a
32	POLR2A	chr4:91048187-91049015	PFSK-1	brain:	n/a	n/a
33	TCF12	chr4:91048164-91050101	ECC-1	luminal epithelium:	n/a	n/a
34	SPI1	chr4:91048097-91048406	GM12878	blood:	n/a	chr4:91048264-91048277
35	GATA3	chr4:91048088-91048765	T-47D	breast:	n/a	n/a
36	NFIC	chr4:91048191-91049039	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr4:91048238-91050011	GM12878	blood:	n/a	n/a
38	POLR2A	chr4:91048235-91050030	Hela-S3	cervix:	n/a	n/a
39	MAX	chr4:91048090-91050086	HCT-116	colon:	n/a	chr4:91049872-91049881 chr4:91049221-91049230
40	REST	chr4:91047724-91050235	H1-neurons	neurons:	n/a	chr4:91048192-91048212 chr4:91048549-91048562 chr4:91048198-91048207
41	MAX	chr4:91048219-91048887	MCF-7	breast:	n/a	n/a
42	POLR2A	chr4:91048246-91048881	GM10847	blood:	n/a	n/a
43	POLR2A	chr4:91047925-91050190	MCF10A-Er-Src	breast:	n/a	n/a
44	POLR2A	chr4:91048186-91050249	GM19099	blood:	n/a	n/a
45	POLR2A	chr4:91048085-91050108	MCF10A-Er-Src	breast:	n/a	n/a
46	MAX	chr4:91048128-91050152	ECC-1	luminal epithelium:	n/a	chr4:91049872-91049881 chr4:91049221-91049230

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:90979793..90982675-chr4:91045572..91048422,2	MCF-7	breast:
2	chr4:91048233..91049088-chr5:95066829..95067559,2	HCT-116	colon:

Variant related genes	Relation type
CCSER1	TF binding region
ENSG00000164292	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012406	chr4:90167781-91166787	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv949454	chr4:90272120-91156917	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv470053	chr4:90879613-91439573	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	nsv879537	chr4:90883047-91165346	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
5	nsv931074	chr4:90970476-91753697	Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	nsv830006	chr4:90971656-91186340	Enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
7	nsv879538	chr4:90993172-91080308	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
8	nsv879539	chr4:91015463-91065352	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
9	esv3357727	chr4:91048154-91050702	Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:91047800-91048400	Flanking Active TSS	Primary hematopoietic stem cells	blood
2	chr4:91047800-91048400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr4:91047800-91049600	Active TSS	Brain Anterior Caudate	brain
4	chr4:91047800-91049800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
5	chr4:91047800-91051000	Active TSS	Breast Myoepithelial Primary Cells	Breast
6	chr4:91047800-91051200	Active TSS	Pancreatic Islets	Pancreatic Islet
7	chr4:91048000-91048400	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
8	chr4:91048000-91048400	Flanking Active TSS	Primary B cells from peripheral blood	blood
9	chr4:91048000-91048400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr4:91048000-91048400	Flanking Active TSS	Fetal Brain Female	brain
11	chr4:91048000-91048400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
12	chr4:91048000-91048400	Flanking Active TSS	GM12878-XiMat	blood
13	chr4:91048000-91048600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
14	chr4:91048000-91048600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
15	chr4:91048000-91048600	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
16	chr4:91048000-91048800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr4:91048000-91049000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
18	chr4:91048000-91049000	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
19	chr4:91048000-91049000	Active TSS	Skeletal Muscle Male	skeletal muscle
20	chr4:91048000-91049000	Flanking Active TSS	HUVEC	blood vessel
21	chr4:91048000-91049200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr4:91048000-91049200	Active TSS	Brain Germinal Matrix	brain
23	chr4:91048000-91049600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr4:91048000-91049600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr4:91048000-91049600	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr4:91048000-91049600	Active TSS	Brain Inferior Temporal Lobe	brain
27	chr4:91048000-91049600	Active TSS	Fetal Brain Male	brain
28	chr4:91048000-91049600	Active TSS	Fetal Kidney	kidney
29	chr4:91048000-91049800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
30	chr4:91048000-91049800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr4:91048000-91049800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:91048000-91049800	Active TSS	Duodenum Smooth Muscle	Duodenum
33	chr4:91048000-91050000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
34	chr4:91048000-91050000	Active TSS	Stomach Smooth Muscle	stomach
35	chr4:91048000-91050000	Active TSS	NHEK	skin
36	chr4:91048000-91050200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
37	chr4:91048000-91050200	Active TSS	Brain Angular Gyrus	brain
38	chr4:91048000-91050400	Active TSS	Brain Hippocampus Middle	brain
39	chr4:91048000-91050600	Active TSS	Brain Cingulate Gyrus	brain
40	chr4:91048000-91050600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
41	chr4:91048000-91050600	Active TSS	Rectal Smooth Muscle	rectum
42	chr4:91048000-91050800	Active TSS	Duodenum Mucosa	Duodenum
43	chr4:91048000-91050800	Active TSS	Fetal Intestine Large	intestine
44	chr4:91048200-91048400	Flanking Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr4:91048200-91048400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr4:91048200-91048400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr4:91048200-91048400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:91048200-91048400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr4:91048200-91048400	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr4:91048200-91048400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links