Variant report

Variant	rs7577484
Chromosome Location	chr2:189161260-189161261
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:2)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:2 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr2:189161089-189161287	K562	blood:	n/a	n/a
2	MXI1	chr2:189155279-189161412	SK-N-SH	brain:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:189159403..189162059-chr2:189193708..189195307,2	K562	blood:
2	chr2:189155055..189158409-chr2:189159948..189163832,8	K562	blood:
3	chr2:189156064..189158162-chr2:189159992..189162914,5	K562	blood:
4	chr2:189148121..189153367-chr2:189154784..189162424,9	K562	blood:
5	chr2:189159168..189161448-chr2:189298953..189301170,2	MCF-7	breast:

No data

Variant related genes	Relation type
MIR561	TF binding region
ENSG00000144366	Chromatin interaction
ENSG00000231689	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10460383	0.96[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs10931347	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10931350	0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11687797	0.87[ASN][1000 genomes]
rs11688935	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11901438	0.87[ASN][1000 genomes]
rs12105671	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs12613370	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12613686	0.87[ASN][1000 genomes]
rs12619948	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs12693496	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13014162	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4233800	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4278900	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4292061	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4353610	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4353611	1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4446047	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4505490	0.95[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55901476	0.87[ASN][1000 genomes]
rs62179648	0.87[ASN][1000 genomes]
rs62179650	0.87[ASN][1000 genomes]
rs6434274	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434275	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434276	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6434279	0.96[CEU][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6711599	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6716852	0.87[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6723034	1.00[JPT][hapmap]
rs6727073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72905541	0.91[ASN][1000 genomes]
rs72905544	0.91[ASN][1000 genomes]
rs72905553	0.91[ASN][1000 genomes]
rs72905582	1.00[ASN][1000 genomes]
rs72905599	1.00[ASN][1000 genomes]
rs72907662	0.91[ASN][1000 genomes]
rs7419883	1.00[CEU][hapmap];0.82[CHB][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7557622	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs7559636	0.96[CEU][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs7575702	0.96[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7585851	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]

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	nsv1010394	chr2:188994398-189284092	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
2	nsv998395	chr2:189018246-189284092	Enhancers Weak transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:189155200-189161800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr2:189155400-189161600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr2:189155600-189161600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:189155600-189161800	Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr2:189155800-189161400	Active TSS	H1 Cell Line	embryonic stem cell
6	chr2:189156000-189161600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr2:189158000-189163600	Weak transcription	Lung	lung
8	chr2:189158200-189161400	Flanking Active TSS	HUVEC	blood vessel
9	chr2:189159000-189161600	Active TSS	Fetal Brain Female	brain
10	chr2:189159000-189163600	Weak transcription	Pancreas	Pancrea
11	chr2:189159000-189168000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr2:189159000-189168000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr2:189159200-189163400	Weak transcription	Stomach Mucosa	stomach
14	chr2:189159200-189168000	Weak transcription	Psoas Muscle	Psoas
15	chr2:189159200-189171200	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr2:189160000-189172800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr2:189160200-189163600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr2:189160200-189163600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr2:189160200-189167800	Weak transcription	Colon Smooth Muscle	Colon
20	chr2:189160200-189168200	Weak transcription	HMEC	breast
21	chr2:189160400-189171000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr2:189160600-189161800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr2:189160800-189161400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:189160800-189161400	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
25	chr2:189160800-189161600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr2:189160800-189161600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr2:189160800-189161800	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr2:189161000-189161400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr2:189161000-189161400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr2:189161000-189167400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr2:189161200-189161600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr2:189161200-189161600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
33	chr2:189161200-189162400	Active TSS	Aorta	Aorta
34	chr2:189161200-189163400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr2:189161200-189163400	Weak transcription	A549	lung
36	chr2:189161200-189163600	Weak transcription	H9 Cell Line	embryonic stem cell
37	chr2:189161200-189164400	Weak transcription	Fetal Lung	lung
38	chr2:189161200-189167400	Weak transcription	Placenta	Placenta

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