Variant report

Variant	rs5985278
Chromosome Location	chrX:109647497-109647498
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:109645406..109647609-chrX:109650068..109652618,2	K562	blood:
2	chrX:109638240..109640846-chrX:109647005..109649037,2	K562	blood:
3	chrX:109415002..109419479-chrX:109644619..109652883,12	MCF-7	breast:
4	chrX:109644964..109647788-chrX:109648779..109652119,4	MCF-7	breast:
5	chrX:109644723..109647738-chrX:109654960..109657008,3	K562	blood:
6	chrX:109640102..109642461-chrX:109645383..109648340,3	MCF-7	breast:
7	chrX:109633892..109639812-chrX:109645953..109649648,6	MCF-7	breast:
8	chrX:109642345..109644272-chrX:109646389..109648288,2	MCF-7	breast:
9	chrX:109640155..109641797-chrX:109646508..109648046,2	MCF-7	breast:
10	chrX:109644001..109647691-chrX:109648578..109653644,9	MCF-7	breast:
11	chrX:109402727..109407753-chrX:109643147..109648806,13	MCF-7	breast:
12	chrX:109556301..109564965-chrX:109638412..109651371,20	MCF-7	breast:
13	chrX:109408944..109411321-chrX:109646297..109647994,2	MCF-7	breast:
14	chrX:109559145..109561986-chrX:109644730..109648839,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000101935	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10126143	1.00[CEU][hapmap]
rs12387996	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12389230	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12389753	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs12392782	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs12394312	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.88[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs16985968	1.00[CEU][hapmap]
rs17003968	1.00[CEU][hapmap]
rs2209182	1.00[CEU][hapmap]
rs2209183	1.00[CEU][hapmap]
rs5985461	1.00[CEU][hapmap]
rs5985462	1.00[CEU][hapmap]
rs5985466	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]
rs5985467	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530248	chrX:109436208-109743686	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
2	esv2758583	chrX:109581771-109711481	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	esv2758884	chrX:109581771-109711481	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:109640200-109651200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
2	chrX:109641400-109656200	Weak transcription	Esophagus	oesophagus
3	chrX:109642800-109648000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chrX:109643000-109647600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chrX:109644800-109647800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chrX:109644800-109648200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
7	chrX:109645200-109649000	Weak transcription	HUES64 Cell Line	embryonic stem cell
8	chrX:109645200-109649400	Enhancers	ES-I3 Cell Line	embryonic stem cell
9	chrX:109645400-109647600	Enhancers	HSMMtube	muscle
10	chrX:109645400-109647800	Enhancers	Muscle Satellite Cultured Cells	--
11	chrX:109645400-109649400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chrX:109645600-109647600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chrX:109645600-109647600	Enhancers	NH-A	brain
14	chrX:109645800-109648400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chrX:109646000-109648200	Enhancers	K562	blood
16	chrX:109646000-109649000	Enhancers	ES-WA7 Cell Line	embryonic stem cell
17	chrX:109646000-109649000	Enhancers	HUES6 Cell Line	embryonic stem cell
18	chrX:109646400-109647600	Enhancers	Stomach Mucosa	stomach
19	chrX:109646400-109648200	Enhancers	Placenta Amnion	Placenta Amnion
20	chrX:109646800-109650200	Weak transcription	HMEC	breast
21	chrX:109646800-109652600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chrX:109646800-109652800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chrX:109646800-109653000	Weak transcription	A549	lung
24	chrX:109646800-109653800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chrX:109646800-109656200	Weak transcription	Right Atrium	heart
26	chrX:109647000-109647600	Enhancers	Cortex derived primary cultured neurospheres	brain
27	chrX:109647000-109651200	Weak transcription	Placenta	Placenta
28	chrX:109647000-109652600	Weak transcription	NHDF-Ad	bronchial
29	chrX:109647200-109647600	Enhancers	Fetal Stomach	stomach
30	chrX:109647200-109652600	Weak transcription	NHLF	lung
31	chrX:109647200-109653000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chrX:109647400-109650000	Weak transcription	Hela-S3	cervix
33	chrX:109647400-109650000	Weak transcription	NHEK	skin
34	chrX:109647400-109651200	Weak transcription	HSMM	muscle

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