Variant report

Variant	rs1387567
Chromosome Location	chr2:10828760-10828761
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:6)
LncRNA
region (count:0)
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	MXI1	chr2:10828475-10830867	SK-N-SH	brain:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:10804991..10808517-chr2:10827670..10830075,3	K562	blood:
2	chr2:10828248..10829978-chr2:10860553..10862190,2	MCF-7	breast:
3	chr2:10828658..10831241-chr2:10859513..10862984,4	MCF-7	breast:
4	chr2:10584788..10589777-chr2:10826863..10830293,6	K562	blood:
5	chr2:10825832..10829197-chr2:10829233..10832096,3	K562	blood:
6	chr2:10828291..10832221-chr2:11269738..11273006,3	MCF-7	breast:

No data

Variant related genes	Relation type
RN7SL832P	TF binding region
ENSG00000206633	Chromatin interaction
ENSG00000145063	Chromatin interaction
ENSG00000243819	Chromatin interaction
ENSG00000257135	Chromatin interaction
ENSG00000115761	Chromatin interaction
ENSG00000143882	Chromatin interaction
ENSG00000115758	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4380198	1.00[AFR][1000 genomes]
rs4669604	1.00[YRI][hapmap];0.94[AFR][1000 genomes]
rs6748766	0.94[AFR][1000 genomes]
rs7603290	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000953	chr2:10717304-10921805	Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
2	nsv535584	chr2:10717304-10921805	Bivalent Enhancer Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	nsv833381	chr2:10723465-10911284	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers 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	21 gene(s)	inside rSNPs	diseases
4	nsv1000731	chr2:10758657-10943882	Strong transcription Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:10795200-10828800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr2:10800200-10829200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:10805000-10829200	Weak transcription	Aorta	Aorta
4	chr2:10813200-10829200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr2:10817800-10829400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr2:10821800-10828800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
7	chr2:10824000-10829000	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr2:10824000-10829200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:10826000-10828800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr2:10826200-10828800	Enhancers	Liver	Liver
11	chr2:10826200-10829000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
12	chr2:10826400-10829400	Enhancers	Spleen	Spleen
13	chr2:10826600-10829000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr2:10826600-10829000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
15	chr2:10826600-10829000	Enhancers	Brain Anterior Caudate	brain
16	chr2:10826600-10829200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
17	chr2:10826800-10829000	Enhancers	Primary T helper naive cells from peripheral blood	blood
18	chr2:10827200-10829000	Weak transcription	Fetal Muscle Trunk	muscle
19	chr2:10827400-10828800	Enhancers	Right Ventricle	heart
20	chr2:10827400-10829000	Enhancers	Primary T cells fromperipheralblood	blood
21	chr2:10827400-10829200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr2:10827400-10829400	Enhancers	Sigmoid Colon	Sigmoid Colon
23	chr2:10827600-10828800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr2:10827600-10828800	Enhancers	Duodenum Smooth Muscle	Duodenum
25	chr2:10827600-10829000	Enhancers	Skeletal Muscle Male	skeletal muscle
26	chr2:10827600-10829200	Weak transcription	Ovary	ovary
27	chr2:10827800-10829000	Enhancers	Right Atrium	heart
28	chr2:10828000-10828800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr2:10828000-10828800	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr2:10828000-10828800	Enhancers	Brain Cingulate Gyrus	brain
31	chr2:10828000-10828800	Enhancers	Left Ventricle	heart
32	chr2:10828000-10828800	Enhancers	NHDF-Ad	bronchial
33	chr2:10828000-10829000	Enhancers	Cortex derived primary cultured neurospheres	brain
34	chr2:10828000-10829000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr2:10828000-10829000	Enhancers	Fetal Heart	heart
36	chr2:10828000-10829000	Enhancers	Rectal Mucosa Donor 31	rectum
37	chr2:10828000-10829200	Enhancers	Primary monocytes fromperipheralblood	blood
38	chr2:10828000-10829200	Enhancers	Esophagus	oesophagus
39	chr2:10828000-10829400	Flanking Active TSS	Dnd41	blood
40	chr2:10828200-10828800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr2:10828200-10828800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr2:10828200-10828800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr2:10828200-10828800	Enhancers	Brain Angular Gyrus	brain
44	chr2:10828200-10828800	Enhancers	Brain Inferior Temporal Lobe	brain
45	chr2:10828200-10828800	Genic enhancers	Fetal Muscle Leg	muscle
46	chr2:10828200-10828800	Active TSS	Stomach Smooth Muscle	stomach
47	chr2:10828200-10828800	Enhancers	HUVEC	blood vessel
48	chr2:10828200-10829000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr2:10828200-10829000	Enhancers	Adipose Nuclei	Adipose
50	chr2:10828200-10829000	Enhancers	Brain Substantia Nigra	brain

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