Variant report

Variant	rs531149636
Chromosome Location	chr1:210111537-210111538
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	POLR2A	chr1:210110641-210112159	H1-neurons	neurons:	n/a	n/a
2	POLR2A	chr1:210111148-210112212	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr1:210111483-210111922	H1-hESC	embryonic stem cell:	n/a	n/a
4	CHD1	chr1:210110861-210112436	H1-hESC	embryonic stem cell:	n/a	chr1:210111320-210111330
5	REST	chr1:210110459-210111899	PFSK-1	brain:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
6	REST	chr1:210110687-210111901	SK-N-SH	brain:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
7	REST	chr1:210110454-210112019	SK-N-SH	brain:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111898-210111905 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
8	CTCF	chr1:210111520-210111670	SK-N-SH_RA	brain:	n/a	n/a
9	EP300	chr1:210111307-210111746	H1-hESC	embryonic stem cell:	n/a	chr1:210111394-210111403
10	CTCF	chr1:210111460-210111610	SK-N-SH_RA	brain:	n/a	n/a
11	REST	chr1:210111474-210111710	GM12878	blood:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111586-210111599 chr1:210111676-210111689
12	REST	chr1:210110656-210112046	U87	brain:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111898-210111905 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
13	JUND	chr1:210110209-210112774	SK-N-SH	brain:	n/a	chr1:210111772-210111781
14	REST	chr1:210111355-210111666	H1-hESC	embryonic stem cell:	n/a	chr1:210111591-210111604 chr1:210111586-210111599
15	TAF1	chr1:210111390-210111976	H1-hESC	embryonic stem cell:	n/a	n/a
16	USF1	chr1:210111078-210111610	H1-hESC	embryonic stem cell:	n/a	chr1:210111382-210111391 chr1:210111381-210111390 chr1:210111383-210111392 chr1:210111382-210111391
17	TAF7	chr1:210111451-210111789	H1-hESC	embryonic stem cell:	n/a	n/a
18	MXI1	chr1:210110276-210113314	SK-N-SH	brain:	n/a	n/a
19	REST	chr1:210110651-210112405	H1-neurons	neurons:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111898-210111905 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
20	MAX	chr1:210110774-210111642	H1-hESC	embryonic stem cell:	n/a	chr1:210111382-210111391
21	SIN3AK20	chr1:210111458-210111793	H1-hESC	embryonic stem cell:	n/a	n/a
22	USF2	chr1:210111103-210111569	H1-hESC	embryonic stem cell:	n/a	chr1:210111382-210111391 chr1:210111381-210111390 chr1:210111383-210111392 chr1:210111382-210111391
23	POLR2A	chr1:210110712-210112001	H1-neurons	neurons:	n/a	n/a
24	USF1	chr1:210111122-210111685	SK-N-SH_RA	brain:	n/a	chr1:210111382-210111391 chr1:210111381-210111390 chr1:210111383-210111392 chr1:210111382-210111391
25	JUND	chr1:210111425-210111664	H1-hESC	embryonic stem cell:	n/a	n/a
26	TAF1	chr1:210111519-210111738	H1-neurons	neurons:	n/a	n/a
27	MAX	chr1:210110985-210112123	H1-hESC	embryonic stem cell:	n/a	chr1:210111668-210111678 chr1:210111382-210111391
28	TAF1	chr1:210111454-210111774	SK-N-SH	brain:	n/a	n/a
29	USF1	chr1:210111312-210111544	H1-hESC	embryonic stem cell:	n/a	chr1:210111382-210111391 chr1:210111381-210111390 chr1:210111383-210111392 chr1:210111382-210111391
30	TBP	chr1:210110837-210112147	H1-hESC	embryonic stem cell:	n/a	n/a
31	YY1	chr1:210111357-210111990	SK-N-SH_RA	brain:	n/a	chr1:210111706-210111720 chr1:210111908-210111917 chr1:210111909-210111923 chr1:210111856-210111867
32	REST	chr1:210110709-210111923	SK-N-SH	brain:	n/a	chr1:210111586-210111599 chr1:210111898-210111905 chr1:210111591-210111604 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111694-210111707 chr1:210111130-210111139 chr1:210111131-210111145 chr1:210111125-210111145 chr1:210111126-210111144
33	POLR2A	chr1:210111481-210111879	H1-hESC	embryonic stem cell:	n/a	n/a
34	MXI1	chr1:210110725-210111987	IMR90	lung:	n/a	n/a
35	SIN3A	chr1:210110712-210112273	H1-hESC	embryonic stem cell:	n/a	chr1:210111777-210111788 chr1:210111703-210111716 chr1:210111130-210111144 chr1:210111586-210111599 chr1:210111129-210111139
36	EP300	chr1:210111329-210111729	H1-hESC	embryonic stem cell:	n/a	chr1:210111394-210111403
37	REST	chr1:210110656-210112056	U87	brain:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111898-210111905 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
38	CTCF	chr1:210111489-210111607	Gliobla	brain:	n/a	n/a
39	JUND	chr1:210110786-210111724	H1-hESC	embryonic stem cell:	n/a	n/a
40	YY1	chr1:210111012-210111842	H1-hESC	embryonic stem cell:	n/a	chr1:210111706-210111720
41	REST	chr1:210110628-210111845	H1-hESC	embryonic stem cell:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
42	SIN3AK20	chr1:210111434-210111766	SK-N-SH	brain:	n/a	n/a
43	MXI1	chr1:210110858-210111824	H1-hESC	embryonic stem cell:	n/a	n/a
44	CTCF	chr1:210111529-210111633	NHEK	skin:	n/a	n/a
45	MAX	chr1:210110801-210112071	H1-hESC	embryonic stem cell:	n/a	chr1:210111668-210111678 chr1:210111382-210111391
46	ZNF143	chr1:210111524-210111908	H1-hESC	embryonic stem cell:	n/a	n/a
47	REST	chr1:210111500-210111672	PFSK-1	brain:	n/a	chr1:210111591-210111604 chr1:210111586-210111599
48	CTCF	chr1:210111493-210111607	Fibrobl	skin:	n/a	n/a
49	REST	chr1:210110570-210111760	ECC-1	luminal epithelium:	n/a	chr1:210111591-210111604 chr1:210111694-210111707 chr1:210111126-210111144 chr1:210111586-210111599 chr1:210111125-210111145 chr1:210111128-210111141 chr1:210111676-210111689 chr1:210111125-210111145 chr1:210111131-210111145 chr1:210111130-210111139
50	TAF1	chr1:210111399-210111766	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:210111478..210111978-chr11:236018..236738,2	K562	blood:

Variant related genes	Relation type
SYT14	TF binding region
ENSG00000185627	Chromatin interaction
ENSG00000142082	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873140	chr1:210068117-210335644	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv1825811	chr1:210082206-210135806	Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	esv1821002	chr1:210108473-210291476	ZNF genes & repeats Enhancers Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	esv3438109	chr1:210110354-210112902	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:210110200-210112400	Active TSS	Brain Anterior Caudate	brain
2	chr1:210110200-210112800	Active TSS	Brain Angular Gyrus	brain
3	chr1:210110400-210112400	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr1:210110400-210112800	Active TSS	Brain Inferior Temporal Lobe	brain
5	chr1:210110400-210112800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:210110600-210111600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr1:210110600-210111600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:210110600-210112000	Active TSS	HUES64 Cell Line	embryonic stem cell
9	chr1:210110600-210112000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:210110600-210112000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr1:210110600-210112000	Active TSS	Brain Cingulate Gyrus	brain
12	chr1:210110600-210112200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:210110600-210112200	Bivalent/Poised TSS	Osteobl	bone
14	chr1:210110600-210112400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr1:210110600-210112600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:210110600-210112800	Active TSS	ES-I3 Cell Line	embryonic stem cell
17	chr1:210110600-210113000	Active TSS	Fetal Brain Female	brain
18	chr1:210110600-210113200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr1:210110800-210111600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr1:210110800-210111600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:210110800-210111800	Bivalent Enhancer	Liver	Liver
22	chr1:210110800-210112000	Active TSS	HUES6 Cell Line	embryonic stem cell
23	chr1:210110800-210112000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr1:210110800-210112000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr1:210110800-210112000	Active TSS	Brain Germinal Matrix	brain
26	chr1:210110800-210112000	Bivalent Enhancer	Small Intestine	intestine
27	chr1:210110800-210112000	Bivalent/Poised TSS	HSMMtube	muscle
28	chr1:210110800-210112000	Active TSS	NHLF	lung
29	chr1:210110800-210112200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:210110800-210112200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:210110800-210112200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr1:210110800-210112200	Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr1:210110800-210112200	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr1:210110800-210112400	Active TSS	HUES48 Cell Line	embryonic stem cell
35	chr1:210110800-210112400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr1:210110800-210112400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr1:210111000-210111600	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:210111000-210111600	Enhancers	Primary T helper cells PMA-I stimulated	--
39	chr1:210111000-210111600	Active TSS	HSMM	muscle
40	chr1:210111000-210111800	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
41	chr1:210111000-210111800	Active TSS	Cortex derived primary cultured neurospheres	brain
42	chr1:210111000-210112000	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr1:210111000-210112000	Active TSS	iPS-18 Cell Line	embryonic stem cell
44	chr1:210111000-210112000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
45	chr1:210111000-210112000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
46	chr1:210111000-210112000	Active TSS	Muscle Satellite Cultured Cells	--
47	chr1:210111000-210112000	Bivalent/Poised TSS	Thymus	Thymus
48	chr1:210111000-210112000	Active TSS	HMEC	breast
49	chr1:210111000-210112000	Bivalent/Poised TSS	HUVEC	blood vessel
50	chr1:210111000-210112000	Active TSS	NHDF-Ad	bronchial

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links