Variant report

Variant	rs192299809
Chromosome Location	chr1:85931015-85931016
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	ZBTB33	chr1:85930828-85931048	HepG2	liver:	n/a	chr1:85930954-85930969 chr1:85930954-85930964
2	POLR2A	chr1:85930181-85931154	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr1:85930237-85931104	A549	lung:	n/a	n/a
4	POLR2A	chr1:85929292-85931998	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr1:85929920-85931350	H1-hESC	embryonic stem cell:	n/a	n/a
6	RAD21	chr1:85929796-85931302	IMR90	lung:	n/a	chr1:85930020-85930030 chr1:85930019-85930032 chr1:85930016-85930035 chr1:85930777-85930790 chr1:85930018-85930030 chr1:85930214-85930227
7	POLR2A	chr1:85930681-85931120	HepG2	liver:	n/a	n/a
8	E2F6	chr1:85929976-85931339	H1-hESC	embryonic stem cell:	n/a	chr1:85931054-85931063
9	ZBTB33	chr1:85930834-85931072	HepG2	liver:	n/a	chr1:85930954-85930969 chr1:85930954-85930964
10	TAF1	chr1:85930714-85931043	H1-neurons	neurons:	n/a	n/a
11	MXI1	chr1:85929885-85931223	HepG2	liver:	n/a	chr1:85930175-85930184
12	POLR2A	chr1:85929452-85931526	HepG2	liver:	n/a	n/a
13	HEY1	chr1:85930033-85931353	HepG2	liver:	n/a	chr1:85930864-85930879 chr1:85930984-85930999
14	POLR2A	chr1:85928502-85932579	HUVEC	blood vessel:	n/a	n/a
15	NFIC	chr1:85930154-85931269	ECC-1	luminal epithelium:	n/a	n/a
16	YY1	chr1:85930148-85931066	ECC-1	luminal epithelium:	n/a	chr1:85930903-85930917
17	RCOR1	chr1:85930356-85931122	HepG2	liver:	n/a	n/a
18	TAF1	chr1:85930580-85931124	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAX	chr1:85929889-85931334	HepG2	liver:	n/a	chr1:85930164-85930174
20	POLR2A	chr1:85930164-85931333	ECC-1	luminal epithelium:	n/a	n/a
21	EP300	chr1:85930758-85931026	HepG2	liver:	n/a	chr1:85930776-85930792
22	RAD21	chr1:85930685-85931301	H1-hESC	embryonic stem cell:	n/a	chr1:85930777-85930790
23	TAF1	chr1:85930239-85931346	ECC-1	luminal epithelium:	n/a	n/a
24	POLR2A	chr1:85929869-85931318	MCF-7	breast:	n/a	n/a
25	MYBL2	chr1:85930748-85931447	HepG2	liver:	n/a	n/a
26	POLR2A	chr1:85930251-85931170	A549	lung:	n/a	n/a
27	REST	chr1:85929836-85931459	H1-neurons	neurons:	n/a	chr1:85930831-85930851 chr1:85931109-85931127
28	POLR2A	chr1:85930412-85931150	MCF10A-Er-Src	breast:	n/a	n/a
29	MAX	chr1:85929839-85931241	H1-hESC	embryonic stem cell:	n/a	chr1:85930164-85930174
30	EGR1	chr1:85930329-85931237	H1-hESC	embryonic stem cell:	n/a	chr1:85931051-85931061 chr1:85931049-85931062 chr1:85931045-85931067 chr1:85931049-85931062 chr1:85931054-85931064 chr1:85931049-85931063 chr1:85931050-85931061 chr1:85931049-85931062 chr1:85931019-85931029
31	ZBTB33	chr1:85930832-85931022	HepG2	liver:	n/a	chr1:85930954-85930969 chr1:85930954-85930964
32	POLR2A	chr1:85930302-85931257	MCF-7	breast:	n/a	n/a
33	TCF7L2	chr1:85930258-85931292	PANC-1	pancreas:	n/a	n/a
34	BACH1	chr1:85930320-85931030	H1-hESC	embryonic stem cell:	n/a	n/a
35	TCF12	chr1:85930895-85931186	H1-hESC	embryonic stem cell:	n/a	n/a
36	TCF7L2	chr1:85930870-85931286	Hela-S3	cervix:	n/a	n/a
37	POLR2A	chr1:85929743-85931197	HUVEC	blood vessel:	n/a	n/a
38	POLR2A	chr1:85930143-85931239	HepG2	liver:	n/a	n/a
39	YY1	chr1:85930064-85931221	HepG2	liver:	n/a	chr1:85930903-85930917
40	RFX5	chr1:85930328-85931087	Hela-S3	cervix:	n/a	n/a
41	POLR2A	chr1:85930107-85931096	Gliobla	brain:	n/a	n/a
42	CEBPD	chr1:85930608-85931087	HepG2	liver:	n/a	n/a
43	TBP	chr1:85930237-85931233	HepG2	liver:	n/a	n/a
44	TBP	chr1:85930292-85931168	H1-hESC	embryonic stem cell:	n/a	n/a
45	POLR2A	chr1:85930200-85931209	H1-hESC	embryonic stem cell:	n/a	n/a
46	SIN3AK20	chr1:85929733-85931353	PANC-1	pancreas:	n/a	n/a
47	ARID3A	chr1:85930915-85931330	HepG2	liver:	n/a	n/a
48	NRF1	chr1:85930077-85931339	SK-N-SH	brain:	n/a	chr1:85930889-85930903 chr1:85930165-85930174 chr1:85930874-85930883
49	MAX	chr1:85930176-85931076	A549	lung:	n/a	n/a
50	MAX	chr1:85930049-85931194	Hela-S3	cervix:	n/a	chr1:85930164-85930174

No.	Distal block	Cell Line	Cell type
1	chr1:85744913..85746846-chr1:85930995..85932650,2	MCF-7	breast:
2	chr1:85929364..85932220-chr1:86042357..86044099,2	MCF-7	breast:
3	chr1:85927983..85931587-chr1:86046693..86050651,4	MCF-7	breast:
4	chr1:85930091..85932037-chr1:86045511..86048058,4	MCF-7	breast:
5	chr1:85929622..85931400-chr1:86044914..86046491,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000273264	TF binding region
DDAH1	TF binding region
ENSG00000153904	Chromatin interaction
ENSG00000142871	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv830470	chr1:85820775-86014080	Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	esv3437564	chr1:85929789-85932337	Bivalent/Poised TSS Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85928400-85931400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr1:85928400-85931600	Active TSS	Brain Anterior Caudate	brain
3	chr1:85928600-85931600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:85928800-85931200	Active TSS	Liver	Liver
5	chr1:85928800-85931400	Active TSS	Duodenum Mucosa	Duodenum
6	chr1:85929000-85931200	Active TSS	Fetal Intestine Large	intestine
7	chr1:85929000-85931600	Active TSS	Brain Cingulate Gyrus	brain
8	chr1:85929000-85931600	Active TSS	HSMM	muscle
9	chr1:85929000-85931600	Active TSS	HSMMtube	muscle
10	chr1:85929200-85931200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
11	chr1:85929200-85931200	Active TSS	Pancreatic Islets	Pancreatic Islet
12	chr1:85929200-85931200	Active TSS	Rectal Mucosa Donor 31	rectum
13	chr1:85929200-85931400	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr1:85929200-85931400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:85929200-85931400	Active TSS	NHDF-Ad	bronchial
16	chr1:85929200-85931600	Active TSS	Duodenum Smooth Muscle	Duodenum
17	chr1:85929200-85931600	Active TSS	Sigmoid Colon	Sigmoid Colon
18	chr1:85929200-85931800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr1:85929200-85931800	Active TSS	Brain Angular Gyrus	brain
20	chr1:85929400-85931200	Active TSS	Aorta	Aorta
21	chr1:85929400-85931200	Active TSS	Fetal Intestine Small	intestine
22	chr1:85929400-85931200	Active TSS	Gastric	stomach
23	chr1:85929400-85931200	Active TSS	Hela-S3	cervix
24	chr1:85929400-85931200	Active TSS	HUVEC	blood vessel
25	chr1:85929400-85931400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr1:85929600-85931200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr1:85929600-85931200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:85929600-85931200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
29	chr1:85929600-85931200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
30	chr1:85929600-85931200	Active TSS	Psoas Muscle	Psoas
31	chr1:85929600-85931200	Active TSS	Rectal Mucosa Donor 29	rectum
32	chr1:85929600-85931400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
33	chr1:85929600-85931400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:85929600-85931400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr1:85929600-85931400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr1:85929600-85931400	Active TSS	Brain Substantia Nigra	brain
37	chr1:85929600-85931600	Active TSS	A549	lung
38	chr1:85929800-85931200	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr1:85929800-85931200	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr1:85929800-85931200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
41	chr1:85929800-85931200	Active TSS	Stomach Mucosa	stomach
42	chr1:85929800-85931200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
43	chr1:85929800-85931200	Active TSS	Osteobl	bone
44	chr1:85929800-85931400	Bivalent/Poised TSS	Primary T cells from cord blood	blood
45	chr1:85929800-85931400	Flanking Active TSS	Primary hematopoietic stem cells	blood
46	chr1:85929800-85931400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:85929800-85931400	Active TSS	Colon Smooth Muscle	Colon
48	chr1:85929800-85931400	Active TSS	Fetal Kidney	kidney
49	chr1:85929800-85931800	Active TSS	Fetal Brain Female	brain
50	chr1:85930000-85931200	Active TSS	H9 Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links