Variant report

Variant	rs74076835
Chromosome Location	chr1:62417290-62417291
allele	G/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	chr1:62417154-62418295	H1-hESC	embryonic stem cell:	n/a	n/a
2	MAX	chr1:62417285-62417712	H1-hESC	embryonic stem cell:	n/a	chr1:62417426-62417436
3	REST	chr1:62417243-62418215	H1-neurons	neurons:	n/a	n/a
4	MYC	chr1:62417233-62417500	H1-hESC	embryonic stem cell:	n/a	chr1:62417426-62417436
5	SP1	chr1:62417112-62418337	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
INADL	TF binding region

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10047078	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10889274	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10889275	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10889276	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11207867	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11207871	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11207873	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11207875	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11485616	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11801545	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11802946	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11804624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11807297	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11809363	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11811508	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12064034	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12064276	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12069154	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12069359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12070855	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12074521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12085283	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12097605	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs12097637	0.83[AMR][1000 genomes]
rs12239276	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61743112	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs74076821	0.87[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs9970060	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9970292	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv518627	chr1:62279594-62517947	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	nsv522020	chr1:62279594-62517947	Active TSS ZNF genes & repeats Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv531876	chr1:62302313-62504349	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
4	nsv1004446	chr1:62394631-62813533	Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
5	nsv534984	chr1:62394631-62813533	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1110	chr1:62395723-62454435	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv546415	chr1:62405873-62437872	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv1001667	chr1:62407786-62649838	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1011842	chr1:62414911-62428530	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:49 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:62346200-62417600	Weak transcription	Rectal Smooth Muscle	rectum
2	chr1:62350600-62428200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr1:62350800-62417600	Weak transcription	Ovary	ovary
4	chr1:62372400-62417600	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr1:62376200-62417600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr1:62381200-62417400	Weak transcription	Skeletal Muscle Female	skeletal muscle
7	chr1:62381200-62418400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr1:62385000-62494200	Weak transcription	Aorta	Aorta
9	chr1:62393800-62422400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:62396400-62418000	Weak transcription	Fetal Kidney	kidney
11	chr1:62400600-62417600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
12	chr1:62406600-62430200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr1:62407200-62417400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr1:62409000-62436800	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr1:62409200-62456000	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:62409200-62456800	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:62409200-62457000	Weak transcription	Fetal Intestine Large	intestine
18	chr1:62409200-62518600	Weak transcription	Pancreas	Pancrea
19	chr1:62409400-62418000	Weak transcription	Left Ventricle	heart
20	chr1:62409400-62429600	Weak transcription	Gastric	stomach
21	chr1:62409400-62458400	Weak transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:62410200-62425200	Weak transcription	Fetal Intestine Small	intestine
23	chr1:62416000-62417800	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr1:62416000-62417800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr1:62416000-62417800	Enhancers	HUES6 Cell Line	embryonic stem cell
26	chr1:62416200-62418000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr1:62416200-62418600	Enhancers	NHEK	skin
28	chr1:62416400-62417400	Weak transcription	NH-A	brain
29	chr1:62416600-62417800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr1:62416600-62419200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr1:62416600-62420000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr1:62416800-62417400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr1:62416800-62419600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:62416800-62426800	Weak transcription	HepG2	liver
35	chr1:62417000-62418000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr1:62417000-62418600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
37	chr1:62417000-62419200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr1:62417200-62417600	Enhancers	Pancreatic Islets	Pancreatic Islet
39	chr1:62417200-62418200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr1:62417200-62418200	Enhancers	Placenta Amnion	Placenta Amnion
41	chr1:62417200-62418400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr1:62417200-62418400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr1:62417200-62418400	Enhancers	Cortex derived primary cultured neurospheres	brain
44	chr1:62417200-62418600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:62417200-62418600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr1:62417200-62418600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr1:62417200-62418800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:62417200-62418800	Enhancers	HMEC	breast
49	chr1:62417200-62419000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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