Variant report

Variant	rs6678528
Chromosome Location	chr1:151195332-151195333
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr1:151195215-151195480	Hela-S3	cervix:	n/a	n/a
2	CEBPB	chr1:151194719-151195549	IMR90	lung:	n/a	n/a
3	CEBPB	chr1:151195210-151195532	HepG2	liver:	n/a	n/a
4	CEBPB	chr1:151195067-151195558	MCF-7	breast:	n/a	n/a
5	CEBPB	chr1:151195211-151195466	K562	blood:	n/a	n/a
6	CEBPB	chr1:151195140-151195586	A549	lung:	n/a	n/a
7	CEBPB	chr1:151195087-151195518	K562	blood:	n/a	n/a
8	CEBPB	chr1:151195111-151195519	H1-hESC	embryonic stem cell:	n/a	n/a
9	CEBPB	chr1:151195204-151195532	A549	lung:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr1:151177242..151178912-chr1:151193662..151196326,2	MCF-7	breast:
2	1:151180715-151199990..1:151402394-151411623	GM12878	blood:
3	chr1:151193469..151196103-chr1:151219484..151222330,2	K562	blood:
4	chr1:151194841..151197149-chr1:151227139..151228688,2	MCF-7	breast:

No data

Variant related genes	Relation type
PIP5K1A	TF binding region
ENSG00000159352	Chromatin interaction
ENSG00000238711	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs1056847	0.86[JPT][hapmap]
rs10749660	0.90[JPT][hapmap]
rs10788801	1.00[ASW][hapmap];0.94[CHB][hapmap];1.00[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[YRI][hapmap];0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10788803	0.86[JPT][hapmap]
rs10888408	0.86[JPT][hapmap]
rs10888409	0.86[JPT][hapmap]
rs10888410	0.86[JPT][hapmap]
rs11204785	0.90[JPT][hapmap]
rs11204791	0.86[JPT][hapmap]
rs11589120	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1536617	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs16827941	0.91[JPT][hapmap]
rs1752387	0.90[JPT][hapmap]
rs2025900	0.95[JPT][hapmap]
rs2031797	0.82[CHB][hapmap];0.89[CHD][hapmap];0.95[JPT][hapmap];0.80[LWK][hapmap]
rs2275900	0.86[JPT][hapmap]
rs2769267	0.85[JPT][hapmap]
rs2769268	0.95[JPT][hapmap]
rs2769273	0.95[JPT][hapmap]
rs2800946	0.95[JPT][hapmap]
rs2800953	0.80[JPT][hapmap]
rs3811405	1.00[ASW][hapmap];0.88[CHB][hapmap];0.94[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.81[MEX][hapmap];0.82[MKK][hapmap];0.93[YRI][hapmap]
rs3811406	0.82[CHB][hapmap];0.94[CHD][hapmap];0.95[JPT][hapmap];0.82[MKK][hapmap]
rs4246525	0.81[JPT][hapmap]
rs4520422	0.90[JPT][hapmap]
rs4636463	1.00[ASW][hapmap];0.94[CHB][hapmap];0.97[CHD][hapmap];0.85[GIH][hapmap];0.95[JPT][hapmap];0.85[YRI][hapmap];0.85[ASN][1000 genomes]
rs4970944	0.90[JPT][hapmap]
rs4970948	0.86[JPT][hapmap]
rs4971013	0.90[JPT][hapmap]
rs4971014	0.81[ASN][1000 genomes]
rs4971017	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4971018	1.00[ASW][hapmap];1.00[CEU][hapmap];0.88[CHB][hapmap];0.92[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4971023	0.91[JPT][hapmap]
rs4971027	0.86[JPT][hapmap]
rs4971028	0.80[ASN][1000 genomes]
rs4971029	0.82[CHB][hapmap];0.95[JPT][hapmap]
rs4971030	0.86[JPT][hapmap]
rs6587559	0.90[JPT][hapmap]
rs6587562	0.86[JPT][hapmap]
rs6686402	0.90[JPT][hapmap]
rs6695344	0.85[JPT][hapmap]
rs6695901	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6702612	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7527032	0.90[JPT][hapmap]
rs7532935	0.90[JPT][hapmap]
rs7539584	0.90[JPT][hapmap]
rs7544947	0.90[JPT][hapmap]
rs7545024	0.89[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7545392	0.83[JPT][hapmap]
rs7552226	0.86[ASW][hapmap]
rs943637	0.86[JPT][hapmap]

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	nsv1001897	chr1:150743271-151241600	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv535158	chr1:150743271-151241600	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv522840	chr1:150933723-151347746	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
4	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
5	nsv831559	chr1:151109459-151239921	Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
6	nsv831570	chr1:151129020-151281778	Strong transcription Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS 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 target site	106 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151172800-151197200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:151172800-151204400	Weak transcription	Stomach Mucosa	stomach
3	chr1:151173200-151196600	Weak transcription	K562	blood
4	chr1:151173200-151197000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:151173200-151199600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr1:151173200-151200000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:151173200-151212000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr1:151173200-151227200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
9	chr1:151173600-151210600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr1:151174000-151199400	Weak transcription	Small Intestine	intestine
11	chr1:151174200-151200600	Weak transcription	Pancreas	Pancrea
12	chr1:151174400-151203800	Weak transcription	Fetal Brain Male	brain
13	chr1:151175800-151199800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:151175800-151200400	Weak transcription	Aorta	Aorta
15	chr1:151176200-151200400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:151176600-151196400	Weak transcription	Primary B cells from cord blood	blood
17	chr1:151176600-151197000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr1:151178200-151223400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr1:151179600-151197600	Weak transcription	Gastric	stomach
20	chr1:151180000-151196600	Weak transcription	Colonic Mucosa	Colon
21	chr1:151180200-151199800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr1:151180600-151198000	Weak transcription	Spleen	Spleen
23	chr1:151180800-151197200	Weak transcription	Ovary	ovary
24	chr1:151180800-151199800	Weak transcription	Esophagus	oesophagus
25	chr1:151180800-151206200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr1:151181200-151197200	Weak transcription	Right Ventricle	heart
27	chr1:151181200-151200200	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:151181200-151203000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr1:151182400-151199600	Weak transcription	Rectal Mucosa Donor 31	rectum
30	chr1:151182600-151196400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr1:151183400-151199800	Weak transcription	Brain Angular Gyrus	brain
32	chr1:151183600-151196200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:151183600-151197000	Weak transcription	Fetal Lung	lung
34	chr1:151183800-151196600	Weak transcription	Brain Germinal Matrix	brain
35	chr1:151183800-151196600	Weak transcription	Fetal Brain Female	brain
36	chr1:151185000-151196800	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr1:151185000-151199400	Weak transcription	HMEC	breast
38	chr1:151185800-151200400	Weak transcription	Psoas Muscle	Psoas
39	chr1:151186000-151199800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:151186200-151197000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr1:151186200-151199400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
42	chr1:151186200-151200400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:151186200-151200400	Weak transcription	Fetal Kidney	kidney
44	chr1:151186800-151196600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:151186800-151210000	Strong transcription	Monocytes-CD14+_RO01746	blood
46	chr1:151187000-151196600	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:151187400-151197200	Weak transcription	HUVEC	blood vessel
48	chr1:151187400-151197400	Weak transcription	Lung	lung
49	chr1:151188600-151196800	Weak transcription	Fetal Muscle Leg	muscle
50	chr1:151188800-151198400	Strong transcription	Dnd41	blood

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