Variant report

Variant	rs185812260
Chromosome Location	chr1:57890286-57890287
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	MAZ	chr1:57890250-57890498	HepG2	liver:	n/a	chr1:57890353-57890362
2	CTCF	chr1:57890260-57890410	HUVEC	blood vessel:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
3	CTCF	chr1:57890271-57890465	MCF-7	breast:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
4	CTCF	chr1:57890260-57890410	HMF	breast:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
5	CTCF	chr1:57890246-57890452	SK-N-SH_RA	brain:	n/a	chr1:57890365-57890383 chr1:57890368-57890381 chr1:57890366-57890382
6	CTCF	chr1:57890213-57890569	ProgFib	skin:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
7	FOXP2	chr1:57890241-57890665	PFSK-1	brain:	n/a	n/a
8	CTCF	chr1:57890260-57890410	HPF	lung:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
9	TEAD4	chr1:57890146-57890599	H1-hESC	embryonic stem cell:	n/a	n/a
10	CTCF	chr1:57890280-57890430	AG10803	skin:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
11	MAX	chr1:57890010-57890728	H1-hESC	embryonic stem cell:	n/a	chr1:57890091-57890101 chr1:57890353-57890362
12	RAD21	chr1:57890157-57890513	HepG2	liver:	n/a	chr1:57890366-57890385
13	CTCF	chr1:57890180-57890330	WI-38	lung:	n/a	n/a
14	HDAC2	chr1:57890197-57890518	HepG2	liver:	n/a	n/a
15	CTCF	chr1:57890260-57890410	GM12866	blood:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
16	MAX	chr1:57890040-57890799	H1-hESC	embryonic stem cell:	n/a	chr1:57890091-57890101 chr1:57890353-57890362
17	CTCF	chr1:57890259-57890501	MCF-7	breast:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
18	CTCF	chr1:57890260-57890410	HA-sp	spinal cord:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
19	CTCF	chr1:57890220-57890370	GM12865	blood:	n/a	n/a
20	RAD21	chr1:57890223-57890594	A549	lung:	n/a	chr1:57890366-57890385
21	CTCF	chr1:57890280-57890430	GM12871	blood:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
22	POLR2A	chr1:57887588-57890834	PFSK-1	brain:	n/a	n/a
23	CTCF	chr1:57890218-57890435	K562	blood:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
24	SIN3A	chr1:57890047-57890737	H1-hESC	embryonic stem cell:	n/a	chr1:57890384-57890395
25	CTCF	chr1:57890280-57890430	AoAF	blood vessel:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
26	CTCF	chr1:57890229-57890508	H1-hESC	embryonic stem cell:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
27	CTCF	chr1:57890109-57890587	MCF-7	breast:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
28	MAX	chr1:57890100-57890659	SK-N-SH	brain:	n/a	chr1:57890353-57890362
29	CTCF	chr1:57890244-57890505	MCF-7	breast:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
30	POLR2A	chr1:57889311-57890582	H1-neurons	neurons:	n/a	n/a
31	CTCF	chr1:57890226-57890457	K562	blood:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
32	RAD21	chr1:57889948-57890657	IMR90	lung:	n/a	chr1:57890366-57890385
33	CTCF	chr1:57890280-57890430	NHEK	skin:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
34	USF1	chr1:57890208-57890677	H1-hESC	embryonic stem cell:	n/a	n/a
35	CTCF	chr1:57890220-57890370	MCF-7	breast:	n/a	n/a
36	CTCF	chr1:57890226-57890476	SK-N-SH_RA	brain:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
37	CHD2	chr1:57890192-57890666	H1-hESC	embryonic stem cell:	n/a	n/a
38	CTCF	chr1:57890215-57890530	Fibrobl	skin:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
39	MAZ	chr1:57890034-57890834	IMR90	lung:	n/a	chr1:57890091-57890101 chr1:57890353-57890362
40	CTCF	chr1:57890220-57890370	HMEC	breast:	n/a	n/a
41	CTCF	chr1:57890240-57890390	GM12873	blood:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
42	CTCF	chr1:57890238-57890463	HepG2	liver:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
43	CTCF	chr1:57890240-57890390	HL-60	blood:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
44	SMC3	chr1:57890231-57890475	K562	blood:	n/a	chr1:57890368-57890378 chr1:57890367-57890381 chr1:57890321-57890329
45	CTCF	chr1:57890220-57890370	K562	blood:	n/a	n/a
46	SIN3AK20	chr1:57890166-57890475	SK-N-SH	brain:	n/a	n/a
47	REST	chr1:57889669-57890640	H1-neurons	neurons:	n/a	chr1:57889708-57889721 chr1:57890217-57890230
48	CTCF	chr1:57890257-57890481	MCF-7	breast:	n/a	chr1:57890366-57890382 chr1:57890365-57890383 chr1:57890368-57890381
49	BHLHE40	chr1:57890226-57890640	HepG2	liver:	n/a	n/a
50	SETDB1	chr1:57890196-57890552	U2OS	brain:	n/a	n/a

Variant related genes	Relation type
DAB1	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817216	chr1:57801783-58130775	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
2	nsv1001771	chr1:57837089-58068175	Bivalent/Poised TSS Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv870908	chr1:57884310-58037783	Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv19188	chr1:57887539-57890289	Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases
5	esv3379485	chr1:57888389-57891237	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:57885800-57890800	Active TSS	Fetal Brain Female	brain
2	chr1:57886800-57890800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr1:57887000-57890400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:57887200-57890600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
5	chr1:57887200-57890600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
6	chr1:57887200-57890600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
7	chr1:57887200-57890800	Active TSS	H9 Cell Line	embryonic stem cell
8	chr1:57887400-57890600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr1:57887400-57890600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:57887400-57890600	Active TSS	Right Atrium	heart
11	chr1:57887400-57890800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:57887600-57890600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr1:57887600-57890600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr1:57887600-57890800	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr1:57887600-57890800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr1:57887600-57891600	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr1:57887800-57890400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr1:57887800-57890600	Bivalent/Poised TSS	NH-A	brain
19	chr1:57887800-57890800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr1:57887800-57890800	Bivalent/Poised TSS	NHLF	lung
21	chr1:57888000-57890600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:57888000-57890600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr1:57888000-57890600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
24	chr1:57888200-57890600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
25	chr1:57888400-57890600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
26	chr1:57888400-57890600	Active TSS	Fetal Heart	heart
27	chr1:57888400-57891000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
28	chr1:57888600-57890800	Active TSS	Brain Angular Gyrus	brain
29	chr1:57888600-57890800	Bivalent/Poised TSS	Brain Anterior Caudate	brain
30	chr1:57888800-57890600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
31	chr1:57888800-57890800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr1:57888800-57890800	Active TSS	Stomach Smooth Muscle	stomach
33	chr1:57889000-57890600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
34	chr1:57889000-57890800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
35	chr1:57889200-57890600	Bivalent/Poised TSS	Colonic Mucosa	Colon
36	chr1:57889200-57890600	Bivalent/Poised TSS	Fetal Intestine Small	intestine
37	chr1:57889200-57890800	Bivalent/Poised TSS	A549	lung
38	chr1:57889400-57890400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:57889400-57890600	Active TSS	Aorta	Aorta
40	chr1:57889400-57890600	Active TSS	Rectal Smooth Muscle	rectum
41	chr1:57889400-57890600	Flanking Bivalent TSS/Enh	HMEC	breast
42	chr1:57889600-57890400	Bivalent/Poised TSS	Thymus	Thymus
43	chr1:57889600-57890600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
44	chr1:57889600-57890600	Bivalent Enhancer	Esophagus	oesophagus
45	chr1:57889600-57890800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr1:57889600-57890800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
47	chr1:57889600-57890800	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
48	chr1:57889600-57890800	Active TSS	Right Ventricle	heart
49	chr1:57889800-57890400	Bivalent Enhancer	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr1:57889800-57890400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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