Variant report

Variant	rs181372356
Chromosome Location	chr3:49592384-49592385
allele	C/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	TAF1	chr3:49592117-49592560	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr3:49592080-49592393	MCF-7	breast:	n/a	n/a
3	REST	chr3:49591575-49592555	U87	brain:	n/a	n/a
4	REST	chr3:49591641-49592496	Hela-S3	cervix:	n/a	n/a
5	EP300	chr3:49591556-49592413	SK-N-SH	brain:	n/a	chr3:49592274-49592290 chr3:49591802-49591818 chr3:49591902-49591918 chr3:49591802-49591811 chr3:49591951-49591960 chr3:49591950-49591959
6	REST	chr3:49591668-49592709	HepG2	liver:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
7	MAX	chr3:49592045-49592399	A549	lung:	n/a	n/a
8	REST	chr3:49591593-49592485	MCF-7	breast:	n/a	n/a
9	REST	chr3:49590593-49593431	HL-60	blood:	n/a	chr3:49591201-49591211 chr3:49590761-49590779 chr3:49592639-49592653 chr3:49590764-49590777 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
10	REST	chr3:49591469-49592776	U87	brain:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
11	REST	chr3:49591481-49592787	GM12878	blood:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
12	RCOR1	chr3:49591526-49592427	HepG2	liver:	n/a	n/a
13	MAZ	chr3:49591231-49592453	IMR90	lung:	n/a	n/a
14	HMGN3	chr3:49591560-49592397	K562	blood:	n/a	n/a
15	REST	chr3:49591558-49592740	SK-N-SH	brain:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
16	TEAD4	chr3:49592075-49592456	A549	lung:	n/a	n/a
17	REST	chr3:49591648-49592672	H1-hESC	embryonic stem cell:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
18	REST	chr3:49591520-49592852	PFSK-1	brain:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
19	REST	chr3:49591624-49592505	SK-N-SH	brain:	n/a	n/a
20	MAX	chr3:49591123-49592666	HepG2	liver:	n/a	chr3:49591131-49591141
21	REST	chr3:49591580-49592761	HCT-116	colon:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
22	REST	chr3:49591543-49592638	U87	brain:	n/a	n/a
23	MAX	chr3:49591763-49592522	HepG2	liver:	n/a	n/a
24	MAX	chr3:49591409-49592453	K562	blood:	n/a	n/a
25	REST	chr3:49591656-49592550	PANC-1	pancreas:	n/a	n/a
26	ZNF143	chr3:49591637-49592515	H1-hESC	embryonic stem cell:	n/a	chr3:49591802-49591812
27	SMARCB1	chr3:49592052-49592444	Hela-S3	cervix:	n/a	n/a
28	PAX5	chr3:49591531-49592420	GM12892	blood:	n/a	chr3:49591800-49591809
29	REST	chr3:49591563-49592704	PFSK-1	brain:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
30	REST	chr3:49590783-49593080	H1-neurons	neurons:	n/a	chr3:49591201-49591211 chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
31	GABPA	chr3:49591993-49592506	H1-hESC	embryonic stem cell:	n/a	n/a
32	ZBTB7A	chr3:49592006-49592472	K562	blood:	n/a	chr3:49592398-49592409 chr3:49592399-49592410
33	REST	chr3:49591561-49592716	PANC-1	pancreas:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
34	REST	chr3:49591717-49592548	GM12878	blood:	n/a	n/a
35	REST	chr3:49591654-49592699	Hela-S3	cervix:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
36	SIN3A	chr3:49591074-49592777	H1-hESC	embryonic stem cell:	n/a	chr3:49592638-49592652 chr3:49591201-49591210
37	SIN3AK20	chr3:49591615-49592407	SK-N-SH	brain:	n/a	n/a
38	SIN3AK20	chr3:49591671-49592507	K562	blood:	n/a	n/a
39	REST	chr3:49591397-49592840	PFSK-1	brain:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
40	UBTF	chr3:49592089-49592396	K562	blood:	n/a	n/a
41	REST	chr3:49591686-49592508	HepG2	liver:	n/a	n/a
42	POLR2A	chr3:49592366-49592880	H1-neurons	neurons:	n/a	n/a
43	YY1	chr3:49591731-49592487	H1-hESC	embryonic stem cell:	n/a	chr3:49591911-49591925 chr3:49591905-49591916 chr3:49591802-49591816 chr3:49591908-49591922 chr3:49591943-49591954 chr3:49591939-49591953 chr3:49591951-49591960 chr3:49591945-49591959 chr3:49591935-49591943 chr3:49591911-49591920 chr3:49591922-49591944 chr3:49591905-49591919
44	REST	chr3:49591496-49592812	ECC-1	luminal epithelium:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
45	REST	chr3:49591677-49592695	H1-hESC	embryonic stem cell:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
46	SIN3AK20	chr3:49591964-49592491	H1-hESC	embryonic stem cell:	n/a	n/a
47	REST	chr3:49592072-49592728	PANC-1	pancreas:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
48	REST	chr3:49591710-49592697	A549	lung:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
49	REST	chr3:49591722-49592688	GM12878	blood:	n/a	chr3:49592639-49592653 chr3:49592634-49592652 chr3:49592633-49592653 chr3:49592633-49592653
50	E2F6	chr3:49591209-49592438	K562	blood:	n/a	chr3:49592404-49592416 chr3:49591894-49591903 chr3:49591940-49591950

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:49590547..49592695-chr3:49709214..49711684,3	MCF-7	breast:
2	chr3:49591933..49593774-chr3:49706277..49708341,2	MCF-7	breast:

Variant related genes	Relation type
BSN-AS2	TF binding region
ENSG00000164062	Chromatin interaction

Extended variants
information (count: 2 )
Associated
traits (count: 0)

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	nsv834687	chr3:49448632-49631788	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	esv3325224	chr3:49590473-49593321	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49590800-49592400	Active TSS	HUES64 Cell Line	embryonic stem cell
2	chr3:49591000-49592400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
3	chr3:49591000-49592400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:49591000-49592800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr3:49591200-49592400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:49591200-49592400	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr3:49591200-49592400	Active TSS	iPS-20b Cell Line	embryonic stem cell
8	chr3:49591200-49592400	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr3:49591200-49592400	Bivalent/Poised TSS	HepG2	liver
10	chr3:49591200-49592400	Active TSS	NHLF	lung
11	chr3:49591200-49592600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:49591200-49592600	Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr3:49591200-49592600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr3:49591200-49592600	Active TSS	Fetal Brain Female	brain
15	chr3:49591200-49592800	Bivalent/Poised TSS	Rectal Mucosa Donor 31	rectum
16	chr3:49591400-49592400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr3:49591400-49592400	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr3:49591400-49592400	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr3:49591400-49592400	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr3:49591400-49592400	Active TSS	Brain Cingulate Gyrus	brain
21	chr3:49591400-49592400	Active TSS	Colon Smooth Muscle	Colon
22	chr3:49591400-49592400	Active TSS	Gastric	stomach
23	chr3:49591400-49592400	Active TSS	Left Ventricle	heart
24	chr3:49591400-49592400	Active TSS	Psoas Muscle	Psoas
25	chr3:49591400-49592400	Active TSS	Right Atrium	heart
26	chr3:49591400-49592400	Active TSS	Right Ventricle	heart
27	chr3:49591400-49592400	Active TSS	A549	lung
28	chr3:49591400-49592600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
29	chr3:49591400-49592600	Active TSS	Rectal Smooth Muscle	rectum
30	chr3:49591400-49592600	Active TSS	HSMM	muscle
31	chr3:49591400-49592800	Active TSS	H9 Cell Line	embryonic stem cell
32	chr3:49591400-49594400	Active TSS	Brain Anterior Caudate	brain
33	chr3:49591600-49592400	Active TSS	H1 Cell Line	embryonic stem cell
34	chr3:49591600-49592400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:49591600-49592400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr3:49591600-49592400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:49591600-49592400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:49591600-49592400	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr3:49591600-49592400	Active TSS	Primary T cells from cord blood	blood
40	chr3:49591600-49592400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr3:49591600-49592400	Active TSS	Brain Hippocampus Middle	brain
42	chr3:49591600-49592400	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr3:49591600-49592400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
44	chr3:49591600-49592400	Active TSS	Brain Substantia Nigra	brain
45	chr3:49591600-49592400	Active TSS	Duodenum Mucosa	Duodenum
46	chr3:49591600-49592400	Weak transcription	Fetal Brain Male	brain
47	chr3:49591600-49592400	Active TSS	Fetal Intestine Large	intestine
48	chr3:49591600-49592400	Active TSS	Fetal Intestine Small	intestine
49	chr3:49591600-49592400	Active TSS	Fetal Muscle Leg	muscle
50	chr3:49591600-49592400	Active TSS	Fetal Stomach	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links