Variant report

Variant	rs4253104
Chromosome Location	chr10:50712660-50712661
allele	C/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	FOXA1	chr10:50712480-50712970	T-47D	breast:	n/a	chr10:50712726-50712741
2	IRF1	chr10:50712642-50712697	K562	blood:	n/a	n/a
3	GATA3	chr10:50712464-50712886	T-47D	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr10:50710531..50713420-chr10:50731110..50733529,2	K562	blood:

Variant related genes	Relation type
ERCC6	TF binding region
ENSG00000243251	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10450344	1.00[EUR][1000 genomes]
rs17010145	1.00[AFR][1000 genomes]
rs4253045	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4253094	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4253129	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4253186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4253205	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58788269	1.00[EUR][1000 genomes]
rs59862996	1.00[EUR][1000 genomes]
rs73315070	1.00[EUR][1000 genomes]
rs73315072	1.00[EUR][1000 genomes]
rs73315075	1.00[EUR][1000 genomes]
rs73315079	1.00[EUR][1000 genomes]
rs73315083	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv895375	chr10:50306386-51028871	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
2	nsv534410	chr10:50317458-50826916	Weak transcription Bivalent Enhancer Enhancers Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv831867	chr10:50607857-50788751	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	esv3346476	chr10:50610853-50987802	Bivalent/Poised TSS Bivalent Enhancer Active TSS Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3385048	chr10:50610942-50988537	Flanking Bivalent TSS/Enh Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
6	nsv1051636	chr10:50675292-50732280	Strong transcription ZNF genes & repeats Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:50668000-50713400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr10:50685000-50723400	Weak transcription	NHLF	lung
3	chr10:50686400-50716400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr10:50686400-50716600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr10:50686600-50715600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr10:50686600-50716000	Weak transcription	Cortex derived primary cultured neurospheres	brain
7	chr10:50686600-50716200	Weak transcription	GM12878-XiMat	blood
8	chr10:50686600-50716800	Weak transcription	Brain Anterior Caudate	brain
9	chr10:50686600-50723200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr10:50686600-50727600	Weak transcription	Fetal Brain Male	brain
11	chr10:50686600-50731000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr10:50688200-50717000	Weak transcription	Brain Inferior Temporal Lobe	brain
13	chr10:50689200-50716200	Weak transcription	Brain Substantia Nigra	brain
14	chr10:50690200-50718000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr10:50690200-50724000	Weak transcription	Fetal Muscle Trunk	muscle
16	chr10:50690200-50728200	Weak transcription	Colonic Mucosa	Colon
17	chr10:50690400-50715800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
18	chr10:50690400-50716400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr10:50690400-50723400	Weak transcription	Right Ventricle	heart
20	chr10:50690600-50715800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr10:50690600-50716000	Weak transcription	Colon Smooth Muscle	Colon
22	chr10:50690600-50723800	Weak transcription	Fetal Lung	lung
23	chr10:50690800-50723600	Weak transcription	Fetal Brain Female	brain
24	chr10:50690800-50726200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr10:50691000-50724400	Weak transcription	Lung	lung
26	chr10:50691000-50728200	Weak transcription	Gastric	stomach
27	chr10:50691200-50713000	Weak transcription	Primary monocytes fromperipheralblood	blood
28	chr10:50691600-50715000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr10:50691600-50715600	Weak transcription	Dnd41	blood
30	chr10:50691600-50716000	Weak transcription	Primary neutrophils fromperipheralblood	blood
31	chr10:50691600-50716000	Weak transcription	Brain Hippocampus Middle	brain
32	chr10:50691600-50723200	Weak transcription	Placenta	Placenta
33	chr10:50691600-50728400	Weak transcription	Fetal Kidney	kidney
34	chr10:50693400-50715600	Weak transcription	Fetal Stomach	stomach
35	chr10:50693400-50718400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr10:50693400-50719400	Weak transcription	Fetal Intestine Small	intestine
37	chr10:50694400-50716000	Weak transcription	Brain Angular Gyrus	brain
38	chr10:50694800-50716400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:50695600-50723400	Weak transcription	HSMMtube	muscle
40	chr10:50696400-50726200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
41	chr10:50696400-50731800	Weak transcription	Small Intestine	intestine
42	chr10:50696600-50713000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr10:50696600-50715600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr10:50696800-50713000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
45	chr10:50699400-50713200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr10:50702200-50715200	Weak transcription	Primary T helper cells PMA-I stimulated	--
47	chr10:50702200-50716400	Weak transcription	Esophagus	oesophagus
48	chr10:50702200-50716400	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr10:50702200-50725400	Weak transcription	Spleen	Spleen
50	chr10:50703200-50716800	Weak transcription	Placenta Amnion	Placenta Amnion

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