Variant report

Variant	rs10221664
Chromosome Location	chr2:55506594-55506595
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:12)
CpG islands
(count:0)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:12 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr2:55506496-55506878	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr2:55506288-55508158	H1-hESC	embryonic stem cell:	n/a	n/a
3	MYC	chr2:55506454-55506714	K562	blood:	n/a	n/a
4	POLR2A	chr2:55506519-55507868	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr2:55506499-55506977	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr2:55506505-55506989	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAX	chr2:55506499-55506684	K562	blood:	n/a	n/a
8	TAF1	chr2:55506489-55507083	H1-hESC	embryonic stem cell:	n/a	n/a
9	NR2F2	chr2:55506466-55506723	K562	blood:	n/a	n/a
10	POLR2A	chr2:55506436-55506995	H1-hESC	embryonic stem cell:	n/a	n/a
11	MYC	chr2:55506418-55506707	K562	blood:	n/a	n/a
12	MAX	chr2:55506395-55506807	K562	blood:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:55499045..55500751-chr2:55505359..55507052,2	MCF-7	breast:

No data

Variant related genes	Relation type
PRORSD1P	TF binding region

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10192755	0.90[YRI][hapmap]
rs10194662	0.91[YRI][hapmap]
rs13389891	1.00[AMR][1000 genomes]
rs13422645	0.83[YRI][hapmap]
rs2043715	0.91[YRI][hapmap]
rs3861572	0.91[YRI][hapmap]
rs6759310	0.90[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv522016	chr2:55404794-55560298	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv874156	chr2:55474026-55636351	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv874157	chr2:55483020-55571085	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	esv1799450	chr2:55494904-55520842	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:26 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:55496600-55508800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:55497000-55508800	Weak transcription	Right Atrium	heart
3	chr2:55497400-55508800	Weak transcription	Brain Cingulate Gyrus	brain
4	chr2:55497600-55508800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr2:55501000-55517000	Weak transcription	Hela-S3	cervix
6	chr2:55504800-55508800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr2:55505400-55508800	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr2:55505400-55508800	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:55505600-55508800	Weak transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:55505800-55507800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr2:55506000-55506600	Weak transcription	HMEC	breast
12	chr2:55506000-55506800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr2:55506000-55507400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr2:55506000-55508600	Enhancers	K562	blood
15	chr2:55506200-55506600	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr2:55506200-55506600	Enhancers	iPS-18 Cell Line	embryonic stem cell
17	chr2:55506200-55506800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr2:55506200-55506800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr2:55506200-55506800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr2:55506200-55507200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr2:55506200-55507400	Enhancers	HepG2	liver
22	chr2:55506200-55507800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr2:55506400-55506600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr2:55506400-55507200	Active TSS	HUES6 Cell Line	embryonic stem cell
25	chr2:55506400-55507200	Active TSS	iPS-20b Cell Line	embryonic stem cell
26	chr2:55506400-55507800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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