Variant report

Variant	rs16989666
Chromosome Location	chrX:64749972-64749973
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chrX:64749947..64752632-chrX:64752646..64755914,3	MCF-7	breast:
2	chrX:64744906..64748287-chrX:64748663..64751422,4	K562	blood:
3	chrX:64748700..64751407-chrX:64754395..64756851,2	MCF-7	breast:
4	chrX:64740439..64743025-chrX:64747776..64750269,4	K562	blood:

Variant related genes	Relation type
ENSG00000001497	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs12395619	0.86[YRI][hapmap]
rs12397033	1.00[MEX][hapmap]
rs2038284	1.00[MEX][hapmap]
rs2038285	1.00[MEX][hapmap]
rs5964443	1.00[MEX][hapmap]
rs5964981	0.86[YRI][hapmap]
rs5964999	1.00[MEX][hapmap]
rs5965003	1.00[MEX][hapmap]
rs5965004	1.00[MEX][hapmap]
rs6524991	1.00[MEX][hapmap];0.95[YRI][hapmap]
rs6525004	1.00[MEX][hapmap]
rs6624783	0.88[ASW][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];0.87[MKK][hapmap];1.00[YRI][hapmap]
rs6624812	1.00[MEX][hapmap]
rs7050592	1.00[MEX][hapmap]
rs7051717	1.00[MEX][hapmap]
rs7061281	1.00[MEX][hapmap]
rs7064663	1.00[YRI][hapmap]
rs7878024	1.00[YRI][hapmap]
rs7884225	0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817451	chrX:64049597-64916072	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	esv3409088	chrX:64739187-64876813	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:64727600-64752000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
2	chrX:64728200-64752600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chrX:64728200-64753000	Strong transcription	HUES64 Cell Line	embryonic stem cell
4	chrX:64728600-64750400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chrX:64729600-64753000	Weak transcription	HUVEC	blood vessel
6	chrX:64730200-64753000	Weak transcription	Right Atrium	heart
7	chrX:64730400-64750400	Strong transcription	Duodenum Mucosa	Duodenum
8	chrX:64731200-64752400	Strong transcription	Liver	Liver
9	chrX:64731200-64752600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chrX:64731400-64751000	Strong transcription	H1 Cell Line	embryonic stem cell
11	chrX:64733200-64753400	Weak transcription	Stomach Mucosa	stomach
12	chrX:64737000-64753400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chrX:64737400-64750400	Strong transcription	Fetal Muscle Trunk	muscle
14	chrX:64737400-64752400	Strong transcription	Placenta	Placenta
15	chrX:64737600-64751000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
16	chrX:64739800-64751600	Strong transcription	A549	lung
17	chrX:64740000-64751600	Strong transcription	Primary B cells from peripheral blood	blood
18	chrX:64740000-64752400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chrX:64740000-64752400	Strong transcription	Primary T helper cells PMA-I stimulated	--
20	chrX:64740000-64752400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chrX:64740200-64750400	Strong transcription	Thymus	Thymus
22	chrX:64740200-64752200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chrX:64740400-64750200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chrX:64740400-64750600	Strong transcription	Lung	lung
25	chrX:64740400-64752200	Strong transcription	Hela-S3	cervix
26	chrX:64740400-64752800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
27	chrX:64740600-64752200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chrX:64740600-64752400	Strong transcription	Fetal Intestine Large	intestine
29	chrX:64741400-64752600	Weak transcription	Fetal Brain Male	brain
30	chrX:64741400-64753000	Weak transcription	HMEC	breast
31	chrX:64741600-64753200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chrX:64742000-64752000	Weak transcription	NH-A	brain
33	chrX:64742200-64753400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
34	chrX:64742800-64753000	Weak transcription	Muscle Satellite Cultured Cells	--
35	chrX:64743200-64753000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
36	chrX:64743200-64753000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
37	chrX:64743200-64753000	Weak transcription	Brain Angular Gyrus	brain
38	chrX:64743200-64753200	Weak transcription	Primary B cells from cord blood	blood
39	chrX:64743400-64750600	Strong transcription	Primary monocytes fromperipheralblood	blood
40	chrX:64743400-64751800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chrX:64743400-64751800	Weak transcription	NHEK	skin
42	chrX:64743400-64752600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chrX:64743400-64752800	Weak transcription	Placenta Amnion	Placenta Amnion
44	chrX:64743400-64753000	Weak transcription	HepG2	liver
45	chrX:64743400-64753200	Weak transcription	NHDF-Ad	bronchial
46	chrX:64744000-64750400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chrX:64744200-64752000	Weak transcription	Sigmoid Colon	Sigmoid Colon
48	chrX:64744200-64752600	Strong transcription	Fetal Stomach	stomach
49	chrX:64744200-64752800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chrX:64744200-64753600	Weak transcription	Small Intestine	intestine

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