Variant report

Variant	rs60212353
Chromosome Location	chr1:75200440-75200441
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	POLR2A	chr1:75200355-75200800	MCF10A-Er-Src	breast:	n/a	n/a
2	EBF1	chr1:75200145-75200517	GM12878	blood:	n/a	chr1:75200325-75200336
3	POLR2A	chr1:75196850-75200950	GM12878	blood:	n/a	n/a
4	CTCF	chr1:75200300-75200450	HFF	foreskin:	n/a	n/a
5	CTCF	chr1:75200300-75200450	AG09319	gingival:	n/a	n/a
6	POLR2A	chr1:75196987-75201662	GM12891	blood:	n/a	n/a
7	CTCF	chr1:75198462-75200591	SK-N-SH	brain:	n/a	chr1:75198476-75198485
8	CTCF	chr1:75200340-75200490	NHDF-neo	bronchial:	n/a	n/a
9	WRNIP1	chr1:75200249-75200801	GM12878	blood:	n/a	n/a
10	GATA2	chr1:75198800-75200466	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr1:75200180-75200450	GM12867	blood:	n/a	n/a

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:

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

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11163178	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073318	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs16910	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28801184	0.87[AFR][1000 genomes]
rs41289224	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4650283	0.95[AFR][1000 genomes];0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59091667	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61524157	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][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	chr1:75197600-75200600	Active TSS	HUES48 Cell Line	embryonic stem cell
2	chr1:75197800-75200800	Active TSS	NHLF	lung
3	chr1:75197800-75201800	Active TSS	GM12878-XiMat	blood
4	chr1:75198000-75200600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr1:75199200-75203000	Weak transcription	Spleen	Spleen
6	chr1:75199400-75203000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr1:75199400-75203000	Weak transcription	Lung	lung
8	chr1:75199400-75203400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr1:75199400-75203800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr1:75199600-75200600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:75199600-75200800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:75199600-75200800	Flanking Active TSS	Hela-S3	cervix
13	chr1:75199600-75203000	Weak transcription	Left Ventricle	heart
14	chr1:75199600-75203000	Weak transcription	Pancreas	Pancrea
15	chr1:75199600-75203200	Weak transcription	Esophagus	oesophagus
16	chr1:75199600-75203200	Weak transcription	Gastric	stomach
17	chr1:75199600-75206000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr1:75199800-75200600	Flanking Active TSS	Dnd41	blood
19	chr1:75199800-75200600	Flanking Active TSS	HUVEC	blood vessel
20	chr1:75199800-75207800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:75200000-75200600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:75200000-75200600	Enhancers	Primary hematopoietic stem cells	blood
23	chr1:75200000-75200600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
24	chr1:75200000-75200600	Enhancers	Primary T helper cells fromperipheralblood	blood
25	chr1:75200000-75200600	Enhancers	Small Intestine	intestine
26	chr1:75200000-75200600	Flanking Active TSS	Stomach Smooth Muscle	stomach
27	chr1:75200000-75200600	Flanking Active TSS	K562	blood
28	chr1:75200000-75200800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr1:75200000-75200800	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr1:75200000-75200800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr1:75200000-75200800	Enhancers	Adipose Nuclei	Adipose
32	chr1:75200000-75200800	Enhancers	Fetal Muscle Leg	muscle
33	chr1:75200000-75201000	Enhancers	Duodenum Mucosa	Duodenum
34	chr1:75200000-75201400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
35	chr1:75200000-75201400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr1:75200000-75202400	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr1:75200000-75202800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr1:75200000-75202800	Weak transcription	Fetal Muscle Trunk	muscle
39	chr1:75200000-75202800	Weak transcription	Placenta	Placenta
40	chr1:75200000-75203000	Weak transcription	Thymus	Thymus
41	chr1:75200000-75203200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr1:75200000-75231600	Weak transcription	Primary neutrophils fromperipheralblood	blood
43	chr1:75200200-75200600	Enhancers	Primary B cells from cord blood	blood
44	chr1:75200200-75200600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr1:75200200-75200600	Enhancers	Fetal Kidney	kidney
46	chr1:75200200-75200600	Enhancers	NHEK	skin
47	chr1:75200200-75200800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
48	chr1:75200200-75200800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
49	chr1:75200200-75200800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
50	chr1:75200200-75200800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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