Variant report

Variant	rs17036325
Chromosome Location	chr2:47390058-47390059
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:47337732..47340513-chr2:47388234..47390439,2	MCF-7	breast:
2	chr2:47381317..47383359-chr2:47387772..47390474,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000239605	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11842	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17036300	1.00[CEU][hapmap];0.90[YRI][hapmap];0.98[AMR][1000 genomes]
rs17036311	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17036313	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17036316	1.00[CEU][hapmap];0.82[CHB][hapmap];0.86[YRI][hapmap];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs17036320	1.00[CEU][hapmap];0.82[CHB][hapmap];0.90[YRI][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2347617	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs4953469	1.00[CEU][hapmap];0.91[YRI][hapmap];0.81[AFR][1000 genomes];0.94[AMR][1000 genomes]
rs4953470	1.00[CEU][hapmap];0.90[YRI][hapmap];0.94[AMR][1000 genomes]
rs4953471	1.00[CEU][hapmap];0.86[YRI][hapmap];0.98[AMR][1000 genomes]
rs4953472	0.82[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56875665	0.98[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs59415749	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6713257	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6749284	1.00[CEU][hapmap];0.91[YRI][hapmap];0.92[AMR][1000 genomes]
rs6760339	0.94[AMR][1000 genomes]
rs72810414	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72810415	0.90[AMR][1000 genomes];0.89[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72810417	0.94[AMR][1000 genomes]
rs72810419	1.00[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72810439	0.81[ASN][1000 genomes]
rs72877054	0.90[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7583684	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]

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	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv457374	chr2:47313624-47448865	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
4	nsv581754	chr2:47313624-47448865	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	87 gene(s)	inside rSNPs	diseases
5	nsv961406	chr2:47388456-47390181	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	1 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47366200-47397000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:47366800-47399400	Strong transcription	Fetal Thymus	thymus
3	chr2:47367000-47401200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:47367200-47402000	Weak transcription	Esophagus	oesophagus
5	chr2:47369800-47391200	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr2:47371800-47392200	Strong transcription	Osteobl	bone
7	chr2:47372600-47396800	Weak transcription	Small Intestine	intestine
8	chr2:47375600-47397400	Weak transcription	Fetal Brain Male	brain
9	chr2:47378400-47392000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr2:47380200-47391400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
11	chr2:47381600-47390400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr2:47382000-47391000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr2:47382600-47391400	Strong transcription	NH-A	brain
14	chr2:47382600-47398200	Weak transcription	Aorta	Aorta
15	chr2:47382800-47390600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr2:47382800-47390600	Weak transcription	Spleen	Spleen
17	chr2:47383800-47390200	Strong transcription	Primary B cells from cord blood	blood
18	chr2:47384400-47391800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr2:47384400-47397200	Weak transcription	Right Atrium	heart
20	chr2:47384600-47390800	Strong transcription	HUVEC	blood vessel
21	chr2:47384600-47391000	Strong transcription	Fetal Muscle Trunk	muscle
22	chr2:47384600-47393200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr2:47384800-47390400	Strong transcription	GM12878-XiMat	blood
24	chr2:47384800-47397600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:47385000-47390400	Strong transcription	NHDF-Ad	bronchial
26	chr2:47385000-47390600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr2:47385000-47391000	Strong transcription	Fetal Lung	lung
28	chr2:47385000-47392400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr2:47385000-47398000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
30	chr2:47385200-47390200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:47385200-47392000	Strong transcription	Adipose Nuclei	Adipose
32	chr2:47385200-47392400	Strong transcription	Primary T cells from cord blood	blood
33	chr2:47385200-47392400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr2:47385200-47393200	Strong transcription	Fetal Muscle Leg	muscle
35	chr2:47385400-47390200	Strong transcription	Primary T helper cells fromperipheralblood	blood
36	chr2:47385400-47390200	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr2:47385400-47390800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr2:47385400-47391800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr2:47385400-47392000	Strong transcription	Hela-S3	cervix
40	chr2:47385400-47392400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr2:47385400-47392600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr2:47385400-47392800	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr2:47385400-47392800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:47385400-47397800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr2:47385400-47397800	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr2:47385400-47398400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr2:47385400-47398600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr2:47385400-47398800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:47385600-47390400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr2:47385600-47390400	Strong transcription	Placenta	Placenta

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