Variant report

Variant	rs4898484
Chromosome Location	chrX:153636858-153636859
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:10)
CpG islands
(count:0)
Chromatin interactive
region (count:20)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:10 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chrX:153636839-153637042	K562	blood:	n/a	chrX:153636932-153636942
2	POLR2A	chrX:153636795-153636861	HUVEC	blood vessel:	n/a	n/a
3	MYC	chrX:153636799-153637056	K562	blood:	n/a	chrX:153636809-153636819 chrX:153636932-153636942
4	POLR2A	chrX:153636816-153638209	HUVEC	blood vessel:	n/a	n/a
5	MYC	chrX:153636834-153636866	K562	blood:	n/a	n/a
6	MAX	chrX:153636802-153637022	K562	blood:	n/a	chrX:153636809-153636819 chrX:153636932-153636942
7	POLR2A	chrX:153636752-153637080	K562	blood:	n/a	n/a
8	MYC	chrX:153636853-153636864	HUVEC	blood vessel:	n/a	n/a
9	CUX1	chrX:153636769-153636919	K562	blood:	n/a	n/a
10	MAX	chrX:153636706-153638104	K562	blood:	n/a	chrX:153636809-153636819 chrX:153636932-153636942

No data

(count:20 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chrX:153636674..153639285-chrX:153640930..153642751,3	K562	blood:
2	X:153635385-153648319..X:153719993-153730954	K562	blood:
3	chrX:153635955..153640116-chrX:153716960..153720383,9	MCF-7	breast:
4	chrX:153636168..153639473-chrX:153663428..153667737,8	MCF-7	breast:
5	chrX:153635755..153638655-chrX:153711241..153715335,3	K562	blood:
6	chrX:153636134..153637859-chrX:153779117..153782021,2	K562	blood:
7	chrX:153635709..153642538-chrX:153670680..153677148,19	MCF-7	breast:
8	chrX:153606188..153609065-chrX:153635251..153638815,4	K562	blood:
9	chrX:153636614..153641269-chrX:153685095..153689085,10	K562	blood:
10	chrX:153635949..153638867-chrX:153759351..153764170,5	K562	blood:
11	X:153635385-153648319..X:154053104-154056925	K562	blood:
12	chrX:153635374..153637551-chrX:153713070..153714974,2	MCF-7	breast:
13	chrX:153596666..153604722-chrX:153634859..153642638,15	MCF-7	breast:
14	chrX:153594620..153614384-chrX:153624179..153643019,157	MCF-7	breast:
15	chrX:153606188..153609125-chrX:153636132..153638815,4	K562	blood:
16	chrX:153597566..153600681-chrX:153636229..153641525,5	K562	blood:
17	chrX:153635949..153638622-chrX:153761655..153764170,2	K562	blood:
18	chrX:153606713..153609473-chrX:153636434..153638152,2	MCF-7	breast:
19	chrX:153636614..153641280-chrX:153684777..153688997,8	K562	blood:
20	chrX:153636582..153642277-chrX:153772882..153776754,8	MCF-7	breast:

No data

Variant related genes	Relation type
DNASE1L1	TF binding region
TAZ	TF binding region
ENSG00000264783	Chromatin interaction
ENSG00000071859	Chromatin interaction
ENSG00000102119	Chromatin interaction
ENSG00000102125	Chromatin interaction
ENSG00000126903	Chromatin interaction
ENSG00000073009	Chromatin interaction
ENSG00000196924	Chromatin interaction
ENSG00000264484	Chromatin interaction
ENSG00000203879	Chromatin interaction
ENSG00000203870	Chromatin interaction
ENSG00000130827	Chromatin interaction
ENSG00000160211	Chromatin interaction
ENSG00000102178	Chromatin interaction
ENSG00000264631	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1130929	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs11593	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12559	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12877	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2051508	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2070643	0.88[JPT][hapmap]
rs2070807	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs2070819	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2070821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2070825	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2070827	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2070829	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2097214	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2156911	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs2239469	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2283762	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs28602900	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs4898494	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs6727	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs743547	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs743548	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs743549	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs762514	1.00[CEU][hapmap]
rs7886627	1.00[CEU][hapmap];1.00[JPT][hapmap]
rs915941	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]
rs915942	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531227	chrX:152864376-153655730	Weak transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	esv33199	chrX:152864376-153820241	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	276 gene(s)	inside rSNPs	diseases
3	nsv528291	chrX:152864376-153827637	Weak transcription Active TSS Bivalent Enhancer Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	277 gene(s)	inside rSNPs	diseases
4	nsv915605	chrX:153333946-153783638	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
5	nsv519042	chrX:153348431-153829693	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
6	nsv532962	chrX:153564946-153870337	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	199 gene(s)	inside rSNPs	diseases
7	nsv532963	chrX:153576890-153822717	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	195 gene(s)	inside rSNPs	diseases
8	nsv530281	chrX:153622940-153783184	Genic enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers 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 miRNA miRNA target site	153 gene(s)	inside rSNPs	diseases
9	nsv532964	chrX:153622940-153854307	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	158 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chrX:153627200-153637200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chrX:153628200-153639600	Weak transcription	Small Intestine	intestine
3	chrX:153628400-153637200	Weak transcription	Primary T cells from cord blood	blood
4	chrX:153628400-153639400	Weak transcription	Ovary	ovary
5	chrX:153628600-153637000	Weak transcription	Primary B cells from cord blood	blood
6	chrX:153628600-153637000	Weak transcription	Primary hematopoietic stem cells	blood
7	chrX:153628600-153637000	Weak transcription	Colon Smooth Muscle	Colon
8	chrX:153628600-153639400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chrX:153628800-153637000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chrX:153628800-153637000	Weak transcription	Stomach Mucosa	stomach
11	chrX:153628800-153637400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chrX:153628800-153637600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chrX:153628800-153639400	Weak transcription	Fetal Lung	lung
14	chrX:153629000-153637000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chrX:153629200-153639400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
16	chrX:153629600-153637000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chrX:153629600-153637000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
18	chrX:153629600-153637000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chrX:153629600-153637200	Weak transcription	NHLF	lung
20	chrX:153629600-153639200	Weak transcription	GM12878-XiMat	blood
21	chrX:153629800-153637000	Weak transcription	H1 Cell Line	embryonic stem cell
22	chrX:153629800-153637000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chrX:153629800-153637000	Weak transcription	Aorta	Aorta
24	chrX:153629800-153639000	Weak transcription	Dnd41	blood
25	chrX:153629800-153639200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chrX:153629800-153639200	Weak transcription	Fetal Kidney	kidney
27	chrX:153629800-153639400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chrX:153630000-153637000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
29	chrX:153630000-153637000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chrX:153630000-153637200	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chrX:153630000-153637200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chrX:153630000-153637200	Weak transcription	Thymus	Thymus
33	chrX:153630000-153639200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
34	chrX:153630000-153639400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chrX:153630000-153639400	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chrX:153630000-153639400	Weak transcription	Brain Substantia Nigra	brain
37	chrX:153630000-153639600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chrX:153630400-153637000	Weak transcription	Brain Hippocampus Middle	brain
39	chrX:153630400-153637200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chrX:153630400-153637400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chrX:153630400-153639400	Weak transcription	Pancreas	Pancrea
42	chrX:153630600-153637200	Weak transcription	Fetal Thymus	thymus
43	chrX:153630800-153637000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chrX:153631200-153639200	Weak transcription	Brain Germinal Matrix	brain
45	chrX:153631200-153639400	Weak transcription	Liver	Liver
46	chrX:153633800-153637200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
47	chrX:153634000-153637000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
48	chrX:153635600-153637000	Weak transcription	Fetal Heart	heart
49	chrX:153636400-153638000	Active TSS	HSMM	muscle
50	chrX:153636600-153637000	Enhancers	Primary T cells fromperipheralblood	blood

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