Variant report

Variant	rs1418823
Chromosome Location	chr1:151510026-151510027
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:32)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:32 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOSL2	chr1:151509306-151510032	A549	lung:	n/a	n/a
2	ZKSCAN1	chr1:151509629-151510044	Hela-S3	cervix:	n/a	n/a
3	MAX	chr1:151509518-151510140	SK-N-SH	brain:	n/a	n/a
4	JUND	chr1:151509511-151510165	Hela-S3	cervix:	n/a	n/a
5	JUN	chr1:151508914-151510030	K562	blood:	n/a	n/a
6	SP1	chr1:151509465-151510050	A549	lung:	n/a	n/a
7	MAX	chr1:151509479-151510054	SK-N-SH	brain:	n/a	n/a
8	TCF12	chr1:151509339-151510157	SK-N-SH	brain:	n/a	n/a
9	E2F6	chr1:151509366-151510141	A549	lung:	n/a	n/a
10	GATA3	chr1:151509290-151510247	A549	lung:	n/a	n/a
11	PBX3	chr1:151509418-151510097	SK-N-SH	brain:	n/a	n/a
12	GATA3	chr1:151509331-151510042	SK-N-SH	brain:	n/a	n/a
13	ZNF384	chr1:151509819-151510032	K562	blood:	n/a	n/a
14	MAFK	chr1:151509345-151510036	Hela-S3	cervix:	n/a	chr1:151509697-151509712
15	MAX	chr1:151508925-151510389	A549	lung:	n/a	n/a
16	MAFK	chr1:151509519-151510092	IMR90	lung:	n/a	chr1:151509697-151509712
17	EP300	chr1:151509428-151510059	A549	lung:	n/a	n/a
18	JUND	chr1:151509260-151510492	SK-N-SH	brain:	n/a	n/a
19	CEBPB	chr1:151509439-151510158	A549	lung:	n/a	chr1:151509773-151509784
20	MYC	chr1:151509520-151510039	MCF10A-Er-Src	breast:	n/a	n/a
21	MAX	chr1:151509542-151510159	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr1:151509543-151510070	Hela-S3	cervix:	n/a	chr1:151509773-151509784
23	USF2	chr1:151509616-151510112	Hela-S3	cervix:	n/a	n/a
24	E2F6	chr1:151509659-151510060	A549	lung:	n/a	n/a
25	CTCF	chr1:151509880-151510030	HRPEpiC	eye:	n/a	n/a
26	PBX3	chr1:151509456-151510034	SK-N-SH	brain:	n/a	n/a
27	BRCA1	chr1:151509650-151510144	Hela-S3	cervix:	n/a	n/a
28	MAX	chr1:151509633-151510173	A549	lung:	n/a	n/a
29	JUN	chr1:151509512-151510026	Hela-S3	cervix:	n/a	n/a
30	JUND	chr1:151509328-151510050	SK-N-SH	brain:	n/a	n/a
31	GTF2F1	chr1:151509596-151510050	Hela-S3	cervix:	n/a	n/a
32	MAX	chr1:151509500-151510216	A549	lung:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151481429..151491154-chr1:151502501..151517487,49	MCF-7	breast:
2	chr1:151421812..151434588-chr1:151506621..151515599,30	MCF-7	breast:
3	chr1:151508834..151511282-chr1:151850913..151852917,2	MCF-7	breast:
4	chr1:151477348..151494376-chr1:151504804..151515249,50	MCF-7	breast:
5	chr1:151509848..151514263-chr1:151581077..151585541,5	MCF-7	breast:
6	chr1:151508927..151511307-chr13:49548992..49551454,2	MCF-7	breast:

No data

Variant related genes	Relation type
TUFT1	TF binding region
ENSG00000232536	TF binding region
ENSG00000143376	Chromatin interaction
ENSG00000143442	Chromatin interaction
ENSG00000143375	Chromatin interaction
ENSG00000102531	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs11204844	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs11549248	0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12029082	0.81[EUR][1000 genomes]
rs12037928	1.00[CEU][hapmap];0.80[CHB][hapmap];0.89[CHD][hapmap];0.82[MEX][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes]
rs12038198	1.00[CEU][hapmap]
rs12044926	1.00[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17640579	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs17640598	0.85[CHB][hapmap];0.82[JPT][hapmap]
rs60322305	0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6694047	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[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	nsv916272	chr1:150961809-151557253	Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	219 gene(s)	inside rSNPs	diseases
2	nsv997511	chr1:151491765-151595902	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151484600-151512000	Weak transcription	Right Atrium	heart
2	chr1:151485200-151511800	Weak transcription	Fetal Brain Female	brain
3	chr1:151485800-151511800	Weak transcription	Brain Germinal Matrix	brain
4	chr1:151485800-151512200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr1:151486600-151511800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr1:151486800-151512200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:151487000-151511800	Weak transcription	Small Intestine	intestine
8	chr1:151493400-151511800	Weak transcription	Brain Anterior Caudate	brain
9	chr1:151493400-151511800	Weak transcription	Ovary	ovary
10	chr1:151493400-151512200	Weak transcription	Fetal Kidney	kidney
11	chr1:151493600-151511200	Strong transcription	Fetal Intestine Large	intestine
12	chr1:151494400-151511800	Weak transcription	Duodenum Smooth Muscle	Duodenum
13	chr1:151495400-151511200	Strong transcription	HUES64 Cell Line	embryonic stem cell
14	chr1:151495400-151511400	Strong transcription	Liver	Liver
15	chr1:151495600-151511000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:151497600-151510200	Strong transcription	Fetal Intestine Small	intestine
17	chr1:151498000-151511800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr1:151499800-151511000	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr1:151500000-151511000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr1:151500000-151511000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr1:151500800-151510800	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr1:151501200-151511000	Strong transcription	HUES48 Cell Line	embryonic stem cell
23	chr1:151501800-151510800	Strong transcription	Pancreas	Pancrea
24	chr1:151502600-151511800	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:151503400-151511800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:151503400-151512400	Weak transcription	Esophagus	oesophagus
27	chr1:151503400-151512800	Weak transcription	Aorta	Aorta
28	chr1:151504200-151511800	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr1:151504800-151510800	Strong transcription	Gastric	stomach
30	chr1:151506000-151510200	Strong transcription	Duodenum Mucosa	Duodenum
31	chr1:151506000-151510600	Strong transcription	Lung	lung
32	chr1:151506200-151510200	Strong transcription	H9 Cell Line	embryonic stem cell
33	chr1:151506200-151510400	Strong transcription	HUES6 Cell Line	embryonic stem cell
34	chr1:151506400-151510400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:151506400-151510600	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr1:151506400-151510800	Strong transcription	Rectal Mucosa Donor 31	rectum
37	chr1:151506600-151510800	Strong transcription	Fetal Stomach	stomach
38	chr1:151507400-151510400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:151507400-151510400	Enhancers	Osteobl	bone
40	chr1:151507400-151510600	Enhancers	HSMM	muscle
41	chr1:151507400-151510800	Strong transcription	Colonic Mucosa	Colon
42	chr1:151507600-151510400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:151507600-151510600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr1:151507600-151510600	Enhancers	Placenta Amnion	Placenta Amnion
45	chr1:151507600-151511800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr1:151507600-151512000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:151507800-151512200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr1:151508000-151510400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:151508000-151510600	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:151508000-151511800	Weak transcription	HepG2	liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links