Variant report

Variant	rs1126497
Chromosome Location	chr2:47601106-47601107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:133)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:133 , 50 per page) page: 1 2 3

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr2:47601020-47601170	HPF	lung:	n/a	n/a
2	CTCF	chr2:47600917-47601184	A549	lung:	n/a	n/a
3	CTCF	chr2:47601028-47601183	MCF-7	breast:	n/a	n/a
4	MYC	chr2:47600966-47601177	K562	blood:	n/a	chr2:47601102-47601112
5	CTCF	chr2:47601000-47601150	HMF	breast:	n/a	n/a
6	POLR2A	chr2:47600998-47601198	H1-hESC	embryonic stem cell:	n/a	n/a
7	MAZ	chr2:47600947-47601246	HepG2	liver:	n/a	n/a
8	CTCF	chr2:47601000-47601150	HBMEC	blood vessel:	n/a	n/a
9	CTCF	chr2:47601068-47601139	NHEK	skin:	n/a	n/a
10	ZNF384	chr2:47600967-47601168	K562	blood:	n/a	n/a
11	CTCF	chr2:47601030-47601185	Fibrobl	skin:	n/a	n/a
12	CTCF	chr2:47601004-47601194	H1-hESC	embryonic stem cell:	n/a	n/a
13	RCOR1	chr2:47600953-47601200	K562	blood:	n/a	n/a
14	CTCF	chr2:47601060-47601210	WERI-Rb-1	eye:	n/a	n/a
15	RCOR1	chr2:47601023-47601210	K562	blood:	n/a	n/a
16	CTCF	chr2:47601040-47601190	SK-N-SH_RA	brain:	n/a	n/a
17	CTCF	chr2:47601031-47601204	Hela-S3	cervix:	n/a	n/a
18	CTCF	chr2:47601060-47601210	GM12872	blood:	n/a	n/a
19	CTCF	chr2:47601000-47601150	HAc	cerebellar:	n/a	n/a
20	MAX	chr2:47600987-47601203	K562	blood:	n/a	chr2:47601102-47601112
21	CTCF	chr2:47600854-47601246	HepG2	liver:	n/a	n/a
22	CTCF	chr2:47601080-47601230	MCF-7	breast:	n/a	n/a
23	CTCF	chr2:47601020-47601205	MCF-7	breast:	n/a	n/a
24	CTCF	chr2:47601040-47601190	HMEC	breast:	n/a	n/a
25	CTCF	chr2:47601000-47601150	HRE	kidney:	n/a	n/a
26	CTCF	chr2:47600880-47601253	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr2:47601018-47601192	MCF-7	breast:	n/a	n/a
28	CTCF	chr2:47601018-47601210	Gliobla	brain:	n/a	n/a
29	CTCF	chr2:47600917-47601226	K562	blood:	n/a	n/a
30	MBD4	chr2:47600774-47601306	HepG2	liver:	n/a	n/a
31	CTCF	chr2:47600961-47601208	T-47D	breast:	n/a	n/a
32	CTCF	chr2:47601020-47601170	Caco-2	colon:	n/a	n/a
33	CTCF	chr2:47601020-47601170	GM12869	blood:	n/a	n/a
34	CTCF	chr2:47600959-47601231	K562	blood:	n/a	n/a
35	SMC3	chr2:47600956-47601261	K562	blood:	n/a	n/a
36	USF1	chr2:47600956-47601198	HepG2	liver:	n/a	n/a
37	CTCF	chr2:47601026-47601201	MCF-7	breast:	n/a	n/a
38	CTCF	chr2:47601040-47601190	HRE	kidney:	n/a	n/a
39	CTCF	chr2:47601010-47601252	MCF-7	breast:	n/a	n/a
40	TBL1XR1	chr2:47600945-47601246	K562	blood:	n/a	n/a
41	RAD21	chr2:47600945-47601237	K562	blood:	n/a	n/a
42	CTCF	chr2:47601028-47601199	MCF-7	breast:	n/a	n/a
43	CTCF	chr2:47600872-47601334	A549	lung:	n/a	n/a
44	CTCF	chr2:47601000-47601150	HCT-116	colon:	n/a	n/a
45	CTCF	chr2:47601020-47601170	K562	blood:	n/a	n/a
46	CTCF	chr2:47601060-47601210	RPTEC	kidney:	n/a	n/a
47	SMC3	chr2:47600883-47601291	HepG2	liver:	n/a	n/a
48	RCOR1	chr2:47601007-47601232	HepG2	liver:	n/a	n/a
49	CTCF	chr2:47601020-47601170	WERI-Rb-1	eye:	n/a	n/a
50	MYC	chr2:47601065-47601162	HepG2	liver:	n/a	chr2:47601102-47601112

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:47601008..47603575-chr2:47604857..47606633,2	K562	blood:
2	chr2:47401904..47404708-chr2:47598417..47601115,2	MCF-7	breast:
3	chr2:47559485..47574826-chr2:47594341..47605593,65	MCF-7	breast:

No data

Variant related genes	Relation type
MIR559	TF binding region
ENSG00000234690	Chromatin interaction
ENSG00000119888	Chromatin interaction
ENSG00000143933	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10173799	0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10179950	0.88[AMR][1000 genomes];0.88[ASN][1000 genomes]
rs11686285	0.95[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12992458	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs12999725	0.81[TSI][hapmap];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13025976	0.83[CHB][hapmap]
rs1863333	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs2162122	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2303426	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3815865	0.91[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs3923559	0.81[ASW][hapmap];0.85[CEU][hapmap];1.00[CHB][hapmap];0.92[CHD][hapmap];0.81[GIH][hapmap];0.82[JPT][hapmap];0.88[TSI][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4952885	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs62139705	0.89[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs6544987	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6757310	0.90[AMR][1000 genomes]
rs71399026	0.88[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7587478	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs7587654	0.94[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817517	chr2:46819371-47715140	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
2	nsv1004828	chr2:47056849-47814482	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv531348	chr2:47433147-47827310	Flanking Bivalent TSS/Enh Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv999576	chr2:47506116-47773960	Weak transcription Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv1009586	chr2:47552706-47621487	Strong transcription Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	29 gene(s)	inside rSNPs	diseases
6	nsv520660	chr2:47590034-47601106	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:48 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:47597200-47610600	Weak transcription	Right Atrium	heart
2	chr2:47597200-47615000	Weak transcription	Esophagus	oesophagus
3	chr2:47597200-47619800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr2:47597400-47601200	Active TSS	Colonic Mucosa	Colon
5	chr2:47597400-47602600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr2:47597400-47604000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr2:47597400-47607000	Weak transcription	Gastric	stomach
8	chr2:47597400-47614800	Weak transcription	HMEC	breast
9	chr2:47597400-47617000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr2:47597400-47629400	Weak transcription	NHEK	skin
11	chr2:47597600-47615400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr2:47598400-47603400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr2:47598400-47604200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr2:47598600-47601600	Weak transcription	Fetal Brain Male	brain
15	chr2:47598600-47604200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr2:47598600-47607000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr2:47598600-47607000	Weak transcription	Pancreas	Pancrea
18	chr2:47598600-47607200	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:47598600-47613000	Weak transcription	Lung	lung
20	chr2:47598800-47601200	Active TSS	Rectal Mucosa Donor 29	rectum
21	chr2:47599000-47601200	Active TSS	Duodenum Mucosa	Duodenum
22	chr2:47599000-47601400	Active TSS	Fetal Intestine Large	intestine
23	chr2:47599000-47606200	Weak transcription	Fetal Kidney	kidney
24	chr2:47599200-47608000	Weak transcription	Fetal Stomach	stomach
25	chr2:47599400-47601400	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
26	chr2:47599400-47602400	Weak transcription	K562	blood
27	chr2:47599400-47603800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr2:47600000-47602800	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr2:47600200-47617800	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr2:47600400-47616800	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:47600600-47601200	Active TSS	Pancreatic Islets	Pancreatic Islet
32	chr2:47600600-47601200	Enhancers	Stomach Mucosa	stomach
33	chr2:47600600-47601400	Enhancers	Fetal Lung	lung
34	chr2:47600600-47614000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr2:47600600-47617200	Strong transcription	HUES6 Cell Line	embryonic stem cell
36	chr2:47600800-47601200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:47600800-47601200	Enhancers	Brain Angular Gyrus	brain
38	chr2:47600800-47601200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
39	chr2:47600800-47601400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr2:47600800-47601800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
41	chr2:47600800-47614000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
42	chr2:47601000-47601200	Enhancers	Brain Anterior Caudate	brain
43	chr2:47601000-47601200	Flanking Active TSS	Rectal Smooth Muscle	rectum
44	chr2:47601000-47601600	Weak transcription	HepG2	liver
45	chr2:47601000-47604200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:47601000-47610200	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr2:47601000-47610600	Strong transcription	H9 Cell Line	embryonic stem cell
48	chr2:47601000-47614200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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