Variant report

Variant	rs60225475
Chromosome Location	chr7:107821453-107821454
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	RAD21	chr7:107821418-107821861	H1-hESC	embryonic stem cell:	n/a	n/a
2	CEBPB	chr7:107821430-107821865	K562	blood:	n/a	n/a
3	SMC3	chr7:107821330-107821950	GM12878	blood:	n/a	n/a
4	CTCF	chr7:107821452-107822586	SK-N-SH	brain:	n/a	chr7:107821676-107821694 chr7:107821678-107821699
5	SMC3	chr7:107821053-107822890	SK-N-SH	brain:	n/a	n/a
6	RAD21	chr7:107821386-107822027	ECC-1	luminal epithelium:	n/a	n/a
7	RAD21	chr7:107821374-107821986	HCT-116	colon:	n/a	n/a
8	CTCF	chr7:107821409-107822024	HCT-116	colon:	n/a	chr7:107821676-107821694 chr7:107821678-107821699
9	RAD21	chr7:107821447-107822067	A549	lung:	n/a	n/a
10	RAD21	chr7:107821428-107822012	ECC-1	luminal epithelium:	n/a	n/a
11	RAD21	chr7:107821448-107821913	SK-N-SH_RA	brain:	n/a	n/a
12	CTCF	chr7:107821449-107821817	HepG2	liver:	n/a	chr7:107821676-107821694 chr7:107821678-107821699
13	RAD21	chr7:107821401-107822050	MCF-7	breast:	n/a	n/a
14	RAD21	chr7:107820719-107823634	SK-N-SH	brain:	n/a	chr7:107821278-107821290
15	CTCF	chr7:107821439-107821946	K562	blood:	n/a	chr7:107821676-107821694 chr7:107821678-107821699
16	PAX5	chr7:107821416-107821889	GM12878	blood:	n/a	chr7:107821716-107821734
17	CTCF	chr7:107820798-107822386	A549	lung:	n/a	chr7:107821676-107821694 chr7:107821678-107821699
18	RAD21	chr7:107821378-107822039	HCT-116	colon:	n/a	n/a
19	ZNF384	chr7:107821417-107821913	K562	blood:	n/a	n/a
20	RAD21	chr7:107821442-107821980	A549	lung:	n/a	n/a
21	CTCF	chr7:107821320-107821470	GM12866	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:107820337..107823179-chr7:108090688..108093464,2	MCF-7	breast:
2	chr7:107821180..107822185-chr7:108137263..108138305,7	K562	blood:
3	chr7:107821216..107822107-chr7:108137242..108137961,2	MCF-7	breast:
4	chr7:107818696..107821681-chr7:107992805..107995213,2	MCF-7	breast:
5	chr7:107819867..107822378-chr7:107829973..107832574,2	K562	blood:
6	chr7:107817682..107823715-chr7:108094168..108099407,9	MCF-7	breast:
7	chr7:107820237..107821906-chr7:107824308..107826830,2	K562	blood:
8	chr7:107821055..107823408-chr7:107926864..107929002,2	MCF-7	breast:
9	chr7:107819408..107821670-chr7:108103371..108105401,2	K562	blood:
10	chr7:107821280..107822047-chr7:108100171..108100791,3	MCF-7	breast:
11	chr7:107821293..107822074-chr7:108100164..108101119,3	MCF-7	breast:

Variant related genes	Relation type
NRCAM	TF binding region
ENSG00000091129	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10215090	1.00[AMR][1000 genomes]
rs10215098	1.00[AMR][1000 genomes]
rs10216147	1.00[AMR][1000 genomes]
rs10225239	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10227650	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10234410	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10235073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10247441	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10251655	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10252718	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10255286	1.00[AMR][1000 genomes]
rs10256475	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10262726	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10263709	1.00[AMR][1000 genomes]
rs10265378	0.83[AFR][1000 genomes]
rs10266877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10271382	1.00[AMR][1000 genomes]
rs10274645	1.00[AFR][1000 genomes]
rs10275960	1.00[AMR][1000 genomes]
rs10279100	1.00[AMR][1000 genomes]
rs10279790	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28373916	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28418445	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28565878	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28573201	0.84[AFR][1000 genomes]
rs28578635	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28584470	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28641825	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34682332	1.00[AMR][1000 genomes]
rs41338849	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55945586	1.00[AMR][1000 genomes]
rs56325000	1.00[AMR][1000 genomes]
rs58732508	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59796283	1.00[AMR][1000 genomes]
rs9987047	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1033979	chr7:107003734-107877761	Strong transcription Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	esv3348839	chr7:107377311-108286538	Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
3	nsv949344	chr7:107396502-107987085	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
4	nsv831089	chr7:107687618-107877240	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
5	nsv831090	chr7:107786650-108011196	Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv888941	chr7:107796150-107863395	ZNF genes & repeats Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
7	nsv1030222	chr7:107809927-107844916	Weak transcription Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:107786800-107857800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr7:107787800-107844200	Weak transcription	Brain Germinal Matrix	brain
3	chr7:107791000-107824600	Weak transcription	HUVEC	blood vessel
4	chr7:107814200-107828400	Weak transcription	Fetal Intestine Small	intestine
5	chr7:107814800-107830400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr7:107815600-107829600	Weak transcription	Brain Substantia Nigra	brain
7	chr7:107816800-107821600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:107817400-107821800	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:107817400-107828600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr7:107818200-107851800	Weak transcription	HSMMtube	muscle
11	chr7:107818400-107821600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:107818600-107848400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
13	chr7:107818800-107826400	Weak transcription	Pancreatic Islets	Pancreatic Islet
14	chr7:107819200-107822200	Weak transcription	Fetal Muscle Trunk	muscle
15	chr7:107819400-107822200	Weak transcription	Pancreas	Pancrea
16	chr7:107819800-107828400	Weak transcription	Brain Anterior Caudate	brain
17	chr7:107820000-107830000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr7:107820600-107867400	Weak transcription	Brain Angular Gyrus	brain
19	chr7:107820800-107822000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
20	chr7:107820800-107824800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr7:107820800-107824800	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:107820800-107827600	Weak transcription	Fetal Brain Female	brain
23	chr7:107820800-107830600	Weak transcription	Brain Hippocampus Middle	brain
24	chr7:107820800-107834600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr7:107820800-107840800	Weak transcription	Placenta	Placenta
26	chr7:107820800-107846800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:107820800-107850600	Weak transcription	Fetal Intestine Large	intestine
28	chr7:107820800-107851200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:107821000-107824400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr7:107821000-107824600	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:107821000-107852200	Weak transcription	Fetal Muscle Leg	muscle
32	chr7:107821400-107821800	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr7:107821400-107821800	Enhancers	iPS-20b Cell Line	embryonic stem cell
34	chr7:107821400-107822400	Enhancers	HUES6 Cell Line	embryonic stem cell
35	chr7:107821400-107822800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr7:107821400-107823000	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:107821400-107823400	Enhancers	iPS-18 Cell Line	embryonic stem cell
38	chr7:107821400-107823800	Genic enhancers	A549	lung

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