Variant report

Variant	rs420889
Chromosome Location	chr7:107820381-107820382
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr7:107820380-107820530	GM12873	blood:	n/a	n/a
2	POLR2A	chr7:107820367-107820401	MCF-7	breast:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:107820337..107823179-chr7:108090688..108093464,2	MCF-7	breast:
2	chr7:107817137..107818651-chr7:107819182..107821095,2	K562	blood:
3	chr7:107818696..107821681-chr7:107992805..107995213,2	MCF-7	breast:
4	chr7:107819867..107822378-chr7:107829973..107832574,2	K562	blood:
5	chr7:107817682..107823715-chr7:108094168..108099407,9	MCF-7	breast:
6	chr7:107820237..107821906-chr7:107824308..107826830,2	K562	blood:
7	chr7:107819408..107821670-chr7:108103371..108105401,2	K562	blood:

No data

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

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs12111776	1.00[CHB][hapmap]
rs12111953	1.00[CHB][hapmap]
rs1269630	1.00[CHB][hapmap]
rs1269631	1.00[CHB][hapmap]
rs1269632	1.00[CHB][hapmap]
rs1269633	1.00[CHB][hapmap]
rs1269637	1.00[CHB][hapmap]
rs1269638	1.00[CHB][hapmap]
rs1269644	1.00[CHB][hapmap]
rs1269654	1.00[CHB][hapmap]
rs1269657	1.00[CHB][hapmap]
rs17134753	1.00[CHB][hapmap]
rs17155059	1.00[CHB][hapmap]
rs17155074	1.00[CHB][hapmap]
rs17155081	1.00[CHB][hapmap]
rs17155094	1.00[CHB][hapmap]
rs17155125	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs376375	0.85[EUR][1000 genomes]
rs377348	0.90[YRI][hapmap]
rs382751	1.00[CHB][hapmap]
rs394921	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs399849	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs401573	1.00[CHB][hapmap]
rs414077	1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.81[AMR][1000 genomes]
rs420464	0.94[AMR][1000 genomes]
rs428459	1.00[CEU][hapmap];0.86[EUR][1000 genomes]
rs449919	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs6466219	1.00[CHB][hapmap]
rs6974903	1.00[CHB][hapmap]
rs7456860	1.00[CHB][hapmap]

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:36 , 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	chr7:107811800-107821400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr7:107814200-107828400	Weak transcription	Fetal Intestine Small	intestine
6	chr7:107814800-107830400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr7:107815600-107829600	Weak transcription	Brain Substantia Nigra	brain
8	chr7:107816800-107821600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr7:107817400-107821800	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr7:107817400-107828600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr7:107818200-107820800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:107818200-107851800	Weak transcription	HSMMtube	muscle
13	chr7:107818400-107821600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:107818600-107821000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr7:107818600-107848400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
16	chr7:107818800-107820800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr7:107818800-107820800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr7:107818800-107820800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr7:107818800-107821400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
20	chr7:107818800-107826400	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:107819000-107820600	Strong transcription	Brain Angular Gyrus	brain
22	chr7:107819000-107820800	Strong transcription	Brain Inferior Temporal Lobe	brain
23	chr7:107819000-107820800	Strong transcription	Placenta	Placenta
24	chr7:107819000-107821400	Strong transcription	A549	lung
25	chr7:107819200-107822200	Weak transcription	Fetal Muscle Trunk	muscle
26	chr7:107819400-107822200	Weak transcription	Pancreas	Pancrea
27	chr7:107819800-107821000	Strong transcription	Fetal Muscle Leg	muscle
28	chr7:107819800-107828400	Weak transcription	Brain Anterior Caudate	brain
29	chr7:107820000-107820800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr7:107820000-107820800	Strong transcription	Brain Hippocampus Middle	brain
31	chr7:107820000-107820800	Strong transcription	Fetal Brain Female	brain
32	chr7:107820000-107820800	Strong transcription	Fetal Intestine Large	intestine
33	chr7:107820000-107821000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr7:107820000-107821400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:107820000-107830000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:107820200-107821000	Strong transcription	Cortex derived primary cultured neurospheres	brain

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