Variant report

Variant	rs1858086
Chromosome Location	chr5:57794296-57794297
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:143)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:143 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr5:57794261-57794415	A549	lung:	n/a	n/a
2	SMC3	chr5:57794169-57794549	HepG2	liver:	n/a	n/a
3	CTCF	chr5:57794160-57794310	HAc	cerebellar:	n/a	n/a
4	CTCF	chr5:57794265-57794436	GM10266	blood:	n/a	n/a
5	CTCF	chr5:57794260-57794410	HepG2	liver:	n/a	n/a
6	CTCF	chr5:57793982-57794754	SK-N-SH	brain:	n/a	chr5:57794545-57794553
7	CTCF	chr5:57794240-57794390	SAEC	small airway:	n/a	n/a
8	RAD21	chr5:57794085-57794588	HepG2	liver:	n/a	n/a
9	STAT3	chr5:57794185-57794482	MCF10A-Er-Src	breast:	n/a	chr5:57794344-57794355
10	CTCF	chr5:57794179-57794602	MCF-7	breast:	n/a	chr5:57794545-57794553
11	SMC3	chr5:57793977-57795040	SK-N-SH	brain:	n/a	n/a
12	CTCF	chr5:57794260-57794410	AG09309	skin:	n/a	n/a
13	RAD21	chr5:57794166-57794498	HepG2	liver:	n/a	n/a
14	CTCF	chr5:57794260-57794410	HA-sp	spinal cord:	n/a	n/a
15	CTCF	chr5:57794280-57794430	HMEC	breast:	n/a	n/a
16	CTCF	chr5:57794220-57794370	HCM	heart:	n/a	n/a
17	CTCF	chr5:57794247-57794478	HepG2	liver:	n/a	n/a
18	CTCF	chr5:57794280-57794430	GM12864	blood:	n/a	n/a
19	CTCF	chr5:57794172-57794526	ECC-1	luminal epithelium:	n/a	n/a
20	RAD21	chr5:57794187-57794591	A549	lung:	n/a	n/a
21	CTCF	chr5:57794198-57794530	T-47D	breast:	n/a	n/a
22	CTCF	chr5:57794280-57794430	HCPEpiC	choroid plexus:	n/a	n/a
23	CTCF	chr5:57794280-57794430	HPAF	blood vessel:	n/a	n/a
24	RAD21	chr5:57794089-57794610	ECC-1	luminal epithelium:	n/a	n/a
25	CTCF	chr5:57794247-57794473	A549	lung:	n/a	n/a
26	RAD21	chr5:57794276-57794439	K562	blood:	n/a	n/a
27	RAD21	chr5:57794171-57794600	Hela-S3	cervix:	n/a	n/a
28	CTCF	chr5:57794260-57794410	GM12873	blood:	n/a	n/a
29	CTCF	chr5:57794166-57794589	GM12878	blood:	n/a	chr5:57794545-57794553
30	CTCF	chr5:57794260-57794410	GM12872	blood:	n/a	n/a
31	CTCF	chr5:57794177-57794533	K562	blood:	n/a	n/a
32	CTCF	chr5:57794260-57794410	GM12878	blood:	n/a	n/a
33	CTCF	chr5:57793671-57794828	A549	lung:	n/a	chr5:57794545-57794553
34	RAD21	chr5:57794245-57794398	GM12878	blood:	n/a	n/a
35	CTCF	chr5:57794236-57794471	GM12878	blood:	n/a	n/a
36	CTCF	chr5:57794119-57794638	HCT-116	colon:	n/a	chr5:57794545-57794553
37	FOXA1	chr5:57794144-57794418	T-47D	breast:	n/a	n/a
38	CTCF	chr5:57794144-57794599	HepG2	liver:	n/a	chr5:57794545-57794553
39	CTCF	chr5:57794193-57794513	A549	lung:	n/a	n/a
40	CTCF	chr5:57794220-57794370	A549	lung:	n/a	n/a
41	RAD21	chr5:57793819-57794837	SK-N-SH	brain:	n/a	n/a
42	RAD21	chr5:57794147-57794569	H1-hESC	embryonic stem cell:	n/a	n/a
43	CTCF	chr5:57794195-57794574	T-47D	breast:	n/a	chr5:57794545-57794553
44	CTCF	chr5:57794220-57794370	GM12867	blood:	n/a	n/a
45	CTCF	chr5:57794260-57794410	Hela-S3	cervix:	n/a	n/a
46	CTCF	chr5:57794220-57794370	K562	blood:	n/a	n/a
47	STAT3	chr5:57794207-57794407	MCF10A-Er-Src	breast:	n/a	chr5:57794344-57794355
48	CTCF	chr5:57794260-57794410	NHLF	lung:	n/a	n/a
49	CTCF	chr5:57794260-57794410	GM12869	blood:	n/a	n/a
50	CTCF	chr5:57794260-57794410	HCM	heart:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr5:57793992..57794779-chr5:58144592..58145242,2	MCF-7	breast:
2	chr5:57793603..57794770-chr5:58145817..58146740,7	MCF-7	breast:
3	chr5:57794206..57795033-chr5:58012774..58013560,4	MCF-7	breast:
4	chr5:57793931..57794799-chr5:58108780..58109770,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000271257	TF binding region

Extended variants
information (count: 53 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:53)

rs_ID	r²[population]
rs10037721	0.93[ASN][1000 genomes]
rs10039062	0.91[ASN][1000 genomes]
rs10052714	0.93[ASN][1000 genomes]
rs10055153	0.98[ASN][1000 genomes]
rs10057028	1.00[ASN][1000 genomes]
rs10063214	0.98[ASN][1000 genomes]
rs10064698	0.98[ASN][1000 genomes]
rs10064918	0.93[ASN][1000 genomes]
rs10069804	0.98[ASN][1000 genomes]
rs10069810	0.98[ASN][1000 genomes]
rs10070522	0.81[GIH][hapmap]
rs10071487	0.82[CHD][hapmap]
rs1159072	0.98[ASN][1000 genomes]
rs11748206	0.98[ASN][1000 genomes]
rs11748233	0.96[ASN][1000 genomes]
rs12186775	1.00[CHB][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs13178332	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap]
rs1389308	1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1508909	0.98[ASN][1000 genomes]
rs1508921	0.98[ASN][1000 genomes]
rs1565729	0.93[ASN][1000 genomes]
rs1858087	1.00[ASN][1000 genomes]
rs2011644	0.98[ASN][1000 genomes]
rs2408929	0.93[ASN][1000 genomes]
rs2591918	0.86[CHD][hapmap]
rs2591919	0.82[CHD][hapmap]
rs4700294	1.00[ASN][1000 genomes]
rs4700295	0.98[ASN][1000 genomes]
rs6450477	0.98[ASN][1000 genomes]
rs6450479	0.89[ASN][1000 genomes]
rs6872961	0.89[ASN][1000 genomes]
rs6879314	0.91[CHB][hapmap];0.92[CHD][hapmap];0.93[ASN][1000 genomes]
rs6886814	0.98[ASN][1000 genomes]
rs6891070	0.93[ASN][1000 genomes]
rs6892103	0.98[ASN][1000 genomes]
rs6892457	0.98[ASN][1000 genomes]
rs702723	0.82[JPT][hapmap]
rs7704108	0.98[ASN][1000 genomes]
rs7704785	1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7708191	0.98[ASN][1000 genomes]
rs7710737	0.98[ASN][1000 genomes]
rs7717166	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7721390	0.98[ASN][1000 genomes]
rs7721538	0.98[ASN][1000 genomes]
rs7722318	0.98[ASN][1000 genomes]
rs7726376	0.91[ASN][1000 genomes]
rs9292162	0.98[ASN][1000 genomes]
rs9292163	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9292164	0.98[ASN][1000 genomes]
rs9292167	0.93[ASN][1000 genomes]
rs963989	1.00[CHB][hapmap];1.00[CHD][hapmap];0.82[JPT][hapmap];0.93[ASN][1000 genomes]
rs966269	0.98[ASN][1000 genomes]
rs966270	0.98[ASN][1000 genomes]

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1858086	DEPDC1B	cis	cerebellum	SCAN
rs1858086	DHX29	cis	parietal	SCAN

Chromatin state (count:13 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:57786800-57795800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:57787400-57799400	Weak transcription	HUES6 Cell Line	embryonic stem cell
3	chr5:57788800-57801600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr5:57791800-57795600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr5:57791800-57798400	Enhancers	Primary monocytes fromperipheralblood	blood
6	chr5:57792400-57795800	Enhancers	Primary neutrophils fromperipheralblood	blood
7	chr5:57792600-57795800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:57792800-57795200	Genic enhancers	Primary B cells from cord blood	blood
9	chr5:57793400-57794400	Enhancers	Primary hematopoietic stem cells	blood
10	chr5:57793600-57795600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr5:57794000-57796000	Enhancers	Primary B cells from peripheral blood	blood
12	chr5:57794000-57797000	Enhancers	Primary hematopoietic stem cells short term culture	blood
13	chr5:57794200-57794400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood

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