Variant report

Variant	rs61785276
Chromosome Location	chr1:70686668-70686669
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:59)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:59 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr1:70685909-70687757	K562	blood:	n/a	n/a
2	MYC	chr1:70686570-70688036	K562	blood:	n/a	n/a
3	POLR2A	chr1:70686657-70687774	K562	blood:	n/a	n/a
4	CHD1	chr1:70686554-70688839	H1-hESC	embryonic stem cell:	n/a	n/a
5	NFIC	chr1:70686656-70687555	GM12878	blood:	n/a	n/a
6	POLR2A	chr1:70686594-70687826	PANC-1	pancreas:	n/a	n/a
7	GATA1	chr1:70686391-70687535	PBDE	blood:	n/a	n/a
8	FOS	chr1:70686602-70687134	MCF10A-Er-Src	breast:	n/a	n/a
9	MXI1	chr1:70686403-70688134	SK-N-SH	brain:	n/a	n/a
10	HCFC1	chr1:70686552-70687906	Hela-S3	cervix:	n/a	n/a
11	JUND	chr1:70686638-70687732	H1-hESC	embryonic stem cell:	n/a	n/a
12	GATA3	chr1:70686365-70687484	SK-N-SH	brain:	n/a	n/a
13	POLR2A	chr1:70686359-70687612	U87	brain:	n/a	n/a
14	POLR2A	chr1:70686613-70687913	GM12878	blood:	n/a	n/a
15	PML	chr1:70686589-70688057	GM12878	blood:	n/a	n/a
16	NRF1	chr1:70686648-70688296	SK-N-SH	brain:	n/a	chr1:70686990-70687001 chr1:70686988-70687002
17	POLR2A	chr1:70686646-70687906	HUVEC	blood vessel:	n/a	n/a
18	POLR2A	chr1:70686241-70688043	GM12891	blood:	n/a	n/a
19	GATA2	chr1:70686403-70687723	SH-SY5Y	brain:	n/a	n/a
20	POLR2A	chr1:70686633-70687926	HL-60	blood:	n/a	n/a
21	POLR2A	chr1:70686247-70687982	GM12878	blood:	n/a	n/a
22	POLR2A	chr1:70686597-70687827	PFSK-1	brain:	n/a	n/a
23	MTA3	chr1:70686664-70687977	GM12878	blood:	n/a	n/a
24	SIN3AK20	chr1:70686668-70687798	MCF-7	breast:	n/a	n/a
25	POLR2A	chr1:70686388-70698918	K562	blood:	n/a	n/a
26	POLR2A	chr1:70686666-70687893	K562	blood:	n/a	n/a
27	POLR2A	chr1:70686660-70687817	H1-neurons	neurons:	n/a	n/a
28	CREB1	chr1:70686637-70688046	K562	blood:	n/a	n/a
29	POLR2A	chr1:70686600-70687721	HUVEC	blood vessel:	n/a	n/a
30	POLR2A	chr1:70686416-70688125	MCF10A-Er-Src	breast:	n/a	n/a
31	EBF1	chr1:70686664-70686857	GM12878	blood:	n/a	n/a
32	KAP1	chr1:70686600-70687953	HEK293	kidney:	n/a	n/a
33	POLR2A	chr1:70686438-70687697	K562	blood:	n/a	n/a
34	POLR2A	chr1:70684083-70688005	HepG2	liver:	n/a	n/a
35	HCFC1	chr1:70686594-70687712	K562	blood:	n/a	n/a
36	POLR2A	chr1:70686605-70688059	H1-hESC	embryonic stem cell:	n/a	n/a
37	CHD1	chr1:70686641-70688036	GM12878	blood:	n/a	n/a
38	JUND	chr1:70686280-70687690	K562	blood:	n/a	n/a
39	REST	chr1:70686478-70688072	H1-neurons	neurons:	n/a	chr1:70686986-70686999
40	GATA3	chr1:70686540-70686962	SH-SY5Y	brain:	n/a	n/a
41	POLR2A	chr1:70686587-70687777	K562	blood:	n/a	n/a
42	GATA2	chr1:70686603-70687090	HUVEC	blood vessel:	n/a	n/a
43	GATA3	chr1:70686415-70687428	SK-N-SH	brain:	n/a	n/a
44	TAF1	chr1:70686592-70687923	ECC-1	luminal epithelium:	n/a	n/a
45	IRF1	chr1:70686453-70687401	K562	blood:	n/a	n/a
46	POLR2A	chr1:70686378-70687769	GM12892	blood:	n/a	n/a
47	POLR2A	chr1:70686243-70687976	Hela-S3	cervix:	n/a	n/a
48	GTF2F1	chr1:70686579-70687721	Hela-S3	cervix:	n/a	n/a
49	POLR2A	chr1:70686608-70687747	PANC-1	pancreas:	n/a	n/a
50	POLR2A	chr1:70686654-70687702	ProgFib	skin:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:70643607..70646837-chr1:70686224..70688710,3	K562	blood:
2	chr1:70668667..70673217-chr1:70684547..70688689,8	K562	blood:
3	chr1:70669751..70673129-chr1:70685079..70688457,4	MCF-7	breast:
4	chr1:70684364..70687178-chr1:70692446..70695041,2	MCF-7	breast:
5	chr1:70606579..70609498-chr1:70685222..70687844,2	K562	blood:
6	chr1:70685799..70687948-chr1:70819964..70821804,2	MCF-7	breast:
7	chr1:70667153..70674800-chr1:70681943..70693478,26	K562	blood:
8	chr1:70685268..70690578-chr1:70702989..70707451,6	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LRRC40-1	chr1:70686506-70686706	ENSG00000228988.1

No data

Variant related genes	Relation type
SRSF11	TF binding region
ENSG00000033122	Chromatin interaction
ENSG00000244389	Chromatin interaction
ENSG00000066557	Chromatin interaction
ENSG00000116754	Chromatin interaction
ENSG00000197568	Chromatin interaction
ENSG00000118454	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs61782625	1.00[AFR][1000 genomes]
rs61784294	1.00[AFR][1000 genomes]
rs61785279	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1798518	chr1:70604106-70723347	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
2	esv1797140	chr1:70604106-70724622	Enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
3	nsv870841	chr1:70612416-70696554	Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv871898	chr1:70681486-70723347	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:70672000-70687000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:70672400-70686800	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr1:70673800-70687200	Weak transcription	Small Intestine	intestine
4	chr1:70674200-70686800	Weak transcription	Aorta	Aorta
5	chr1:70676400-70686800	Weak transcription	Ovary	ovary
6	chr1:70681800-70687200	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr1:70682400-70686800	Weak transcription	Esophagus	oesophagus
8	chr1:70682400-70687000	Weak transcription	Gastric	stomach
9	chr1:70682400-70687200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:70685600-70686800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
11	chr1:70685600-70687000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:70685800-70687000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
13	chr1:70685800-70688200	Active TSS	iPS-15b Cell Line	embryonic stem cell
14	chr1:70686200-70686800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr1:70686200-70686800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr1:70686200-70686800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr1:70686200-70686800	Enhancers	Lung	lung
18	chr1:70686200-70686800	Enhancers	Pancreas	Pancrea
19	chr1:70686200-70686800	Enhancers	Spleen	Spleen
20	chr1:70686200-70687000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:70686200-70688200	Active TSS	ES-I3 Cell Line	embryonic stem cell
22	chr1:70686200-70688400	Active TSS	K562	blood
23	chr1:70686200-70688600	Active TSS	Stomach Smooth Muscle	stomach
24	chr1:70686200-70689200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr1:70686400-70686800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
26	chr1:70686400-70686800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr1:70686400-70686800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr1:70686400-70686800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
29	chr1:70686400-70686800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:70686400-70686800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:70686400-70686800	Weak transcription	Left Ventricle	heart
32	chr1:70686400-70686800	Flanking Active TSS	HSMM	muscle
33	chr1:70686400-70686800	Flanking Active TSS	NHEK	skin
34	chr1:70686400-70687000	Flanking Active TSS	Primary B cells from cord blood	blood
35	chr1:70686400-70687000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
36	chr1:70686400-70687000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:70686400-70687000	Flanking Active TSS	Liver	Liver
38	chr1:70686400-70687200	Active TSS	HepG2	liver
39	chr1:70686400-70687600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:70686400-70687800	Active TSS	Fetal Brain Female	brain
41	chr1:70686400-70687800	Active TSS	Fetal Lung	lung
42	chr1:70686400-70688000	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:70686400-70688200	Active TSS	HUES64 Cell Line	embryonic stem cell
44	chr1:70686400-70688600	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr1:70686400-70688800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:70686400-70688800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr1:70686400-70688800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:70686400-70689000	Active TSS	Brain Germinal Matrix	brain
49	chr1:70686600-70686800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr1:70686600-70686800	Flanking Active TSS	Primary monocytes fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links