Variant report

Variant	rs74095166
Chromosome Location	chr1:75200219-75200220
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:48)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:48 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr1:75200192-75200426	GM12878	blood:	n/a	chr1:75200325-75200336
2	CTCF	chr1:75200200-75200350	HVMF	connective:	n/a	n/a
3	CTCF	chr1:75200100-75200250	BJ	skin:	n/a	n/a
4	CTCF	chr1:75200200-75200350	A549	lung:	n/a	n/a
5	CTCF	chr1:75200207-75200406	GM12878	blood:	n/a	n/a
6	ELK1	chr1:75200180-75200269	GM12878	blood:	n/a	n/a
7	CTCF	chr1:75200160-75200310	HEEpiC	esophagus:	n/a	n/a
8	CTCF	chr1:75200140-75200290	GM12871	blood:	n/a	n/a
9	EBF1	chr1:75200154-75200436	GM12878	blood:	n/a	chr1:75200325-75200336
10	CTCF	chr1:75200180-75200330	HEK293	kidney:	n/a	n/a
11	CTCF	chr1:75200180-75200330	HMEC	breast:	n/a	n/a
12	CTCF	chr1:75200180-75200330	HPF	lung:	n/a	n/a
13	GATA1	chr1:75198495-75200354	PBDE	blood:	n/a	chr1:75198538-75198548
14	EBF1	chr1:75200145-75200517	GM12878	blood:	n/a	chr1:75200325-75200336
15	CTCF	chr1:75200180-75200330	GM12865	blood:	n/a	n/a
16	CTCF	chr1:75200140-75200290	HepG2	liver:	n/a	n/a
17	POLR2A	chr1:75196850-75200950	GM12878	blood:	n/a	n/a
18	POLR2A	chr1:75198481-75200318	K562	blood:	n/a	n/a
19	POLR2A	chr1:75196987-75201662	GM12891	blood:	n/a	n/a
20	CTCF	chr1:75200164-75200364	K562	blood:	n/a	n/a
21	CTCF	chr1:75200100-75200250	HFF	foreskin:	n/a	n/a
22	CTCF	chr1:75200180-75200330	NB4	blood:	n/a	n/a
23	CTCF	chr1:75200180-75200330	GM12874	blood:	n/a	n/a
24	CTCF	chr1:75200200-75200350	SK-N-SH_RA	brain:	n/a	n/a
25	CTCF	chr1:75200140-75200290	RPTEC	kidney:	n/a	n/a
26	CTCF	chr1:75200180-75200330	GM12873	blood:	n/a	n/a
27	CTCF	chr1:75200140-75200290	HRE	kidney:	n/a	n/a
28	CTCF	chr1:75198462-75200591	SK-N-SH	brain:	n/a	chr1:75198476-75198485
29	CTCF	chr1:75200211-75200391	HepG2	liver:	n/a	n/a
30	CTCF	chr1:75200200-75200350	HepG2	liver:	n/a	n/a
31	CTCF	chr1:75200200-75200350	HCFaa	heart:	n/a	n/a
32	CTCF	chr1:75200160-75200310	SK-N-SH_RA	brain:	n/a	n/a
33	MAFK	chr1:75200085-75200327	IMR90	lung:	n/a	n/a
34	CTCF	chr1:75200160-75200310	AG10803	skin:	n/a	n/a
35	CTCF	chr1:75200180-75200330	HPAF	blood vessel:	n/a	n/a
36	CTCF	chr1:75200120-75200270	NHDF-neo	bronchial:	n/a	n/a
37	CTCF	chr1:75200200-75200350	HCPEpiC	choroid plexus:	n/a	n/a
38	CTCF	chr1:75200180-75200330	GM12875	blood:	n/a	n/a
39	GATA2	chr1:75198800-75200466	HUVEC	blood vessel:	n/a	n/a
40	CUX1	chr1:75200211-75200404	K562	blood:	n/a	n/a
41	CTCF	chr1:75200200-75200350	HA-sp	spinal cord:	n/a	n/a
42	CTCF	chr1:75200180-75200450	GM12867	blood:	n/a	n/a
43	POLR2A	chr1:75197016-75200333	GM12878	blood:	n/a	n/a
44	CTCF	chr1:75200200-75200350	HUVEC	blood vessel:	n/a	n/a
45	CTCF	chr1:75200080-75200230	GM12873	blood:	n/a	n/a
46	CTCF	chr1:75200180-75200330	AG10803	skin:	n/a	n/a
47	CTCF	chr1:75200160-75200310	GM12864	blood:	n/a	n/a
48	CTCF	chr1:75200160-75200310	HBMEC	blood vessel:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:75197640..75200637-chr1:75200867..75204722,5	MCF-7	breast:
2	chr1:75182455..75184516-chr1:75199218..75200932,2	K562	blood:
3	chr1:75197578..75200968-chr1:75201632..75206969,6	MCF-7	breast:
4	chr1:74977554..74979985-chr1:75198825..75201036,2	K562	blood:

No data

Variant related genes	Relation type
CRYZ	TF binding region
TYW3	TF binding region
ENSG00000162623	Chromatin interaction
ENSG00000162621	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:38)

rs_ID	r²[population]
rs11538281	1.00[EUR][1000 genomes]
rs17095826	1.00[EUR][1000 genomes]
rs17095828	1.00[EUR][1000 genomes]
rs17095873	1.00[EUR][1000 genomes]
rs41532045	1.00[EUR][1000 genomes]
rs56801414	1.00[EUR][1000 genomes]
rs56984812	1.00[EUR][1000 genomes]
rs57299160	1.00[EUR][1000 genomes]
rs57413593	1.00[EUR][1000 genomes]
rs57891038	1.00[EUR][1000 genomes]
rs58387974	1.00[EUR][1000 genomes]
rs60099743	1.00[EUR][1000 genomes]
rs60307267	1.00[EUR][1000 genomes]
rs60486335	1.00[EUR][1000 genomes]
rs6702642	1.00[EUR][1000 genomes]
rs72968192	1.00[EUR][1000 genomes]
rs72968194	1.00[EUR][1000 genomes]
rs72970024	1.00[EUR][1000 genomes]
rs72970030	1.00[EUR][1000 genomes]
rs72970039	1.00[EUR][1000 genomes]
rs72970040	1.00[EUR][1000 genomes]
rs72970042	1.00[EUR][1000 genomes]
rs72973623	1.00[EUR][1000 genomes]
rs72973628	1.00[EUR][1000 genomes]
rs72973630	1.00[EUR][1000 genomes]
rs72973632	1.00[EUR][1000 genomes]
rs72973658	1.00[EUR][1000 genomes]
rs74093480	1.00[AMR][1000 genomes]
rs74093752	1.00[EUR][1000 genomes]
rs74095137	1.00[AMR][1000 genomes]
rs74095148	1.00[EUR][1000 genomes]
rs74095153	1.00[AMR][1000 genomes]
rs74095164	1.00[AMR][1000 genomes]
rs74095179	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095180	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095181	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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	nsv1011745	chr1:74730942-75477618	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
2	nsv535003	chr1:74730942-75477618	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	nsv830259	chr1:75089177-75241062	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	esv1851105	chr1:75152186-75302921	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv546579	chr1:75197533-75200486	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:75195600-75200400	Active TSS	A549	lung
2	chr1:75197200-75200400	Active TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:75197600-75200400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:75197600-75200600	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr1:75197800-75200800	Active TSS	NHLF	lung
6	chr1:75197800-75201800	Active TSS	GM12878-XiMat	blood
7	chr1:75198000-75200600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr1:75199200-75203000	Weak transcription	Spleen	Spleen
9	chr1:75199400-75200400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
10	chr1:75199400-75203000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:75199400-75203000	Weak transcription	Lung	lung
12	chr1:75199400-75203400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr1:75199400-75203800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr1:75199600-75200400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr1:75199600-75200400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr1:75199600-75200400	Flanking Active TSS	Brain Angular Gyrus	brain
17	chr1:75199600-75200400	Flanking Active TSS	Brain Anterior Caudate	brain
18	chr1:75199600-75200400	Flanking Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr1:75199600-75200400	Enhancers	Placenta Amnion	Placenta Amnion
20	chr1:75199600-75200600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr1:75199600-75200800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:75199600-75200800	Flanking Active TSS	Hela-S3	cervix
23	chr1:75199600-75203000	Weak transcription	Left Ventricle	heart
24	chr1:75199600-75203000	Weak transcription	Pancreas	Pancrea
25	chr1:75199600-75203200	Weak transcription	Esophagus	oesophagus
26	chr1:75199600-75203200	Weak transcription	Gastric	stomach
27	chr1:75199600-75206000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr1:75199800-75200400	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:75199800-75200400	Enhancers	Primary B cells from peripheral blood	blood
30	chr1:75199800-75200400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr1:75199800-75200400	Enhancers	Colonic Mucosa	Colon
32	chr1:75199800-75200400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
33	chr1:75199800-75200400	Flanking Active TSS	NH-A	brain
34	chr1:75199800-75200600	Flanking Active TSS	Dnd41	blood
35	chr1:75199800-75200600	Flanking Active TSS	HUVEC	blood vessel
36	chr1:75199800-75207800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr1:75200000-75200400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:75200000-75200400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr1:75200000-75200400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:75200000-75200400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr1:75200000-75200400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr1:75200000-75200400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:75200000-75200400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr1:75200000-75200400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr1:75200000-75200400	Enhancers	Brain Substantia Nigra	brain
46	chr1:75200000-75200400	Enhancers	Fetal Stomach	stomach
47	chr1:75200000-75200400	Enhancers	Rectal Smooth Muscle	rectum
48	chr1:75200000-75200400	Enhancers	Right Ventricle	heart
49	chr1:75200000-75200400	Flanking Active TSS	HMEC	breast
50	chr1:75200000-75200400	Flanking Active TSS	Osteobl	bone

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links