Variant report

Variant	rs1322996
Chromosome Location	chr10:112630024-112630025
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:112629899-112634013	GM12891	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:112594090..112596413-chr10:112629473..112632431,2	K562	blood:
2	chr10:112629865..112631826-chr10:112663124..112665657,2	K562	blood:
3	chr10:112581723..112584048-chr10:112629413..112632345,2	K562	blood:
4	chr10:112581444..112587243-chr10:112629842..112633404,6	MCF-7	breast:
5	chr10:112580755..112589346-chr10:112627817..112636075,27	MCF-7	breast:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-BBIP1-1	chr10:112629626-112630196	ENSG00000203497.2
2	lnc-BBIP1-1	chr10:112628648-112631552	NONHSAT016362
3	lnc-BBIP1-1	chr10:112628648-112630662	NONHSAT016363

No data

Variant related genes	Relation type
PDCD4	TF binding region
ENSG00000214413	Chromatin interaction
ENSG00000203867	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1885788	1.00[AFR][1000 genomes]
rs1885789	1.00[AFR][1000 genomes]
rs1885793	1.00[YRI][hapmap]
rs4457680	1.00[YRI][hapmap]
rs7068228	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs7076336	1.00[YRI][hapmap]

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	nsv1045608	chr10:112524813-112677557	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv1041758	chr10:112552897-112677557	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv896003	chr10:112579299-112631211	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv896002	chr10:112579299-112638028	Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1051566	chr10:112580049-112730573	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	39 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:112611200-112630600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr10:112617800-112630600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr10:112618400-112630800	Enhancers	Fetal Thymus	thymus
4	chr10:112621000-112630600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:112621000-112631000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr10:112621200-112630400	Weak transcription	Gastric	stomach
7	chr10:112621200-112630600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr10:112621200-112630600	Weak transcription	Brain Substantia Nigra	brain
9	chr10:112623000-112630600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr10:112623400-112631000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
11	chr10:112624000-112630600	Weak transcription	Lung	lung
12	chr10:112625000-112630200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr10:112625000-112630800	Enhancers	Primary hematopoietic stem cells	blood
14	chr10:112625000-112631000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr10:112625200-112630800	Enhancers	Thymus	Thymus
16	chr10:112625400-112630400	Weak transcription	Brain Anterior Caudate	brain
17	chr10:112625400-112630600	Weak transcription	Brain Cingulate Gyrus	brain
18	chr10:112625400-112630600	Weak transcription	Brain Hippocampus Middle	brain
19	chr10:112625400-112630600	Enhancers	K562	blood
20	chr10:112625600-112630400	Weak transcription	Fetal Heart	heart
21	chr10:112625600-112630800	Weak transcription	NH-A	brain
22	chr10:112625800-112630400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr10:112625800-112630400	Weak transcription	Colon Smooth Muscle	Colon
24	chr10:112626000-112630400	Weak transcription	Right Atrium	heart
25	chr10:112626000-112630600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr10:112626000-112630600	Weak transcription	Rectal Smooth Muscle	rectum
27	chr10:112626000-112630800	Enhancers	Primary B cells from peripheral blood	blood
28	chr10:112626000-112630800	Weak transcription	NHLF	lung
29	chr10:112626200-112630400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr10:112626200-112630400	Weak transcription	Stomach Smooth Muscle	stomach
31	chr10:112626200-112630600	Weak transcription	Left Ventricle	heart
32	chr10:112626200-112630600	Weak transcription	Psoas Muscle	Psoas
33	chr10:112626200-112630600	Weak transcription	Skeletal Muscle Male	skeletal muscle
34	chr10:112626200-112630600	Weak transcription	NHEK	skin
35	chr10:112626400-112630400	Weak transcription	Fetal Stomach	stomach
36	chr10:112626400-112630600	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr10:112626400-112630800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr10:112626400-112630800	Weak transcription	HMEC	breast
39	chr10:112626400-112631000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr10:112626600-112630200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr10:112626800-112630600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr10:112627000-112630600	Weak transcription	Liver	Liver
43	chr10:112627000-112630600	Weak transcription	Esophagus	oesophagus
44	chr10:112627000-112630600	Weak transcription	A549	lung
45	chr10:112627400-112630200	Weak transcription	Fetal Muscle Trunk	muscle
46	chr10:112627400-112631000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
47	chr10:112627600-112630600	Weak transcription	HepG2	liver
48	chr10:112627800-112630400	Weak transcription	HUES6 Cell Line	embryonic stem cell
49	chr10:112627800-112630400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr10:112627800-112630400	Weak transcription	Fetal Intestine Large	intestine

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