Variant report

Variant	rs6576986
Chromosome Location	chr2:97508320-97508321
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:20)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:20 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr2:97508297-97508649	MCF-7	breast:	n/a	n/a
2	SIN3AK20	chr2:97508037-97508980	MCF-7	breast:	n/a	n/a
3	POLR2A	chr2:97508217-97508605	GM12892	blood:	n/a	n/a
4	POLR2A	chr2:97508198-97508687	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr2:97508124-97508632	GM12892	blood:	n/a	n/a
6	POLR2A	chr2:97507370-97510781	HepG2	liver:	n/a	n/a
7	POLR2A	chr2:97507361-97510558	HepG2	liver:	n/a	n/a
8	POLR2A	chr2:97508289-97508643	HepG2	liver:	n/a	n/a
9	POLR2A	chr2:97507376-97510672	A549	lung:	n/a	n/a
10	POLR2A	chr2:97502726-97509008	HepG2	liver:	n/a	n/a
11	POLR2A	chr2:97508136-97508506	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr2:97508078-97508832	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr2:97508163-97508556	HepG2	liver:	n/a	n/a
14	POLR2A	chr2:97508215-97508801	Hela-S3	cervix:	n/a	n/a
15	POLR2A	chr2:97507280-97508611	K562	blood:	n/a	n/a
16	POLR2A	chr2:97508234-97508519	H1-neurons	neurons:	n/a	n/a
17	FOSL2	chr2:97508119-97508756	HepG2	liver:	n/a	n/a
18	POLR2A	chr2:97507304-97510828	K562	blood:	n/a	n/a
19	POLR2A	chr2:97508065-97508693	PANC-1	pancreas:	n/a	n/a
20	POLR2A	chr2:97507404-97510601	Hela-S3	cervix:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr2:97492698..97495238-chr2:97505220..97508779,3	MCF-7	breast:
2	chr2:97506810..97509446-chr2:97509731..97511932,2	MCF-7	breast:
3	chr2:97506571..97510288-chr2:97534230..97537776,5	MCF-7	breast:
4	chr2:97507563..97509402-chr2:97616532..97618941,2	MCF-7	breast:

No data

Variant related genes	Relation type
ANKRD23	TF binding region
ENSG00000168754	Chromatin interaction
ENSG00000168758	Chromatin interaction
ENSG00000163126	Chromatin interaction
ENSG00000168763	Chromatin interaction

Extended variants
information (count: 97 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10203346	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs10439526	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11889085	0.83[ASN][1000 genomes]
rs11897786	0.88[CEU][hapmap];0.87[EUR][1000 genomes]
rs12172	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1317911	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs1320146	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1320149	0.88[CEU][hapmap];0.81[EUR][1000 genomes]
rs13419073	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17119562	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17119564	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs17119591	1.00[CHB][hapmap];0.81[ASN][1000 genomes]
rs17119598	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2276654	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2314399	0.83[ASN][1000 genomes]
rs3731941	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4077343	0.82[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs56797569	0.83[ASN][1000 genomes]
rs56913233	0.83[ASN][1000 genomes]
rs57582887	0.83[ASN][1000 genomes]
rs58147284	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59244622	0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152765	0.83[ASN][1000 genomes]
rs62152766	0.83[ASN][1000 genomes]
rs62152767	0.83[ASN][1000 genomes]
rs62152768	0.83[ASN][1000 genomes]
rs62152770	0.83[ASN][1000 genomes]
rs62152771	0.83[ASN][1000 genomes]
rs62152772	0.83[ASN][1000 genomes]
rs62152773	0.83[ASN][1000 genomes]
rs62152774	0.83[ASN][1000 genomes]
rs62152775	0.83[ASN][1000 genomes]
rs62152777	0.88[ASN][1000 genomes]
rs62152783	0.88[ASN][1000 genomes]
rs62152784	0.82[ASN][1000 genomes]
rs62152785	0.88[ASN][1000 genomes]
rs62152786	0.86[ASN][1000 genomes]
rs62152787	0.88[ASN][1000 genomes]
rs62152788	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62152790	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62152793	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152794	0.82[AFR][1000 genomes];0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152834	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62152860	0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs62152863	0.96[EUR][1000 genomes]
rs62152864	0.96[EUR][1000 genomes]
rs62156208	0.83[ASN][1000 genomes]
rs62156209	0.83[ASN][1000 genomes]
rs62156210	0.83[ASN][1000 genomes]
rs62156211	0.83[ASN][1000 genomes]
rs62156212	0.83[ASN][1000 genomes]
rs62156213	0.83[ASN][1000 genomes]
rs62156216	0.83[ASN][1000 genomes]
rs62156219	0.83[ASN][1000 genomes]
rs62156220	0.83[ASN][1000 genomes]
rs62156221	0.83[ASN][1000 genomes]
rs62156222	0.83[ASN][1000 genomes]
rs62156223	0.83[ASN][1000 genomes]
rs62156225	0.83[ASN][1000 genomes]
rs62156226	0.83[ASN][1000 genomes]
rs62156227	0.83[ASN][1000 genomes]
rs62156228	0.83[ASN][1000 genomes]
rs62156230	0.83[ASN][1000 genomes]
rs62156231	0.83[ASN][1000 genomes]
rs62156232	0.83[ASN][1000 genomes]
rs62156233	0.83[ASN][1000 genomes]
rs62156234	0.83[ASN][1000 genomes]
rs6576981	0.83[ASN][1000 genomes]
rs6576987	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6576989	0.87[EUR][1000 genomes]
rs6751132	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs6753987	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6756482	1.00[CHB][hapmap];1.00[JPT][hapmap];0.88[ASN][1000 genomes]
rs6758151	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs72809850	0.83[ASN][1000 genomes]
rs72811623	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72811627	0.85[EUR][1000 genomes]
rs72811629	0.93[EUR][1000 genomes]
rs7568206	0.83[ASN][1000 genomes]
rs7580942	0.87[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7594727	0.87[CEU][hapmap]
rs7608621	0.87[CEU][hapmap]
rs878064	0.81[ASN][1000 genomes]
rs9948	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap]
rs9973492	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
3	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
4	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
5	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
6	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh 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	162 gene(s)	inside rSNPs	diseases
7	nsv874680	chr2:97309574-97678319	Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
8	nsv526313	chr2:97333492-97660619	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
9	nsv874681	chr2:97410949-97577343	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
10	nsv874682	chr2:97423626-97567389	Transcr. at gene 5' and 3' Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
11	nsv1009720	chr2:97464803-97522856	Transcr. at gene 5' and 3' Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
12	nsv535830	chr2:97464803-97522856	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97484600-97518400	Weak transcription	HUVEC	blood vessel
2	chr2:97489400-97509000	Strong transcription	Brain Cingulate Gyrus	brain
3	chr2:97496200-97512400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr2:97498400-97513400	Weak transcription	NHEK	skin
5	chr2:97499200-97512400	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr2:97499200-97512800	Weak transcription	Osteobl	bone
7	chr2:97499200-97513200	Weak transcription	Aorta	Aorta
8	chr2:97499200-97513400	Weak transcription	Small Intestine	intestine
9	chr2:97499200-97513600	Weak transcription	H9 Cell Line	embryonic stem cell
10	chr2:97499200-97522400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr2:97499400-97513200	Weak transcription	Muscle Satellite Cultured Cells	--
12	chr2:97499600-97513200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr2:97499600-97515600	Weak transcription	HSMMtube	muscle
14	chr2:97499600-97515800	Weak transcription	Fetal Kidney	kidney
15	chr2:97499600-97522800	Weak transcription	HSMM	muscle
16	chr2:97501000-97512000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr2:97501000-97512400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr2:97501000-97513000	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr2:97501000-97520600	Weak transcription	Fetal Brain Male	brain
20	chr2:97501200-97515800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
21	chr2:97501200-97520600	Weak transcription	Hela-S3	cervix
22	chr2:97501800-97513200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:97502000-97513200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr2:97503200-97514400	Strong transcription	Fetal Brain Female	brain
25	chr2:97503400-97508400	Strong transcription	Brain Germinal Matrix	brain
26	chr2:97503600-97522600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr2:97504000-97508400	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr2:97504000-97512600	Weak transcription	A549	lung
29	chr2:97504000-97513400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:97504200-97509600	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
31	chr2:97504200-97513400	Weak transcription	K562	blood
32	chr2:97505000-97520400	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr2:97505600-97511800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr2:97505600-97511800	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr2:97505600-97512000	Weak transcription	Monocytes-CD14+_RO01746	blood
36	chr2:97505600-97513200	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr2:97505600-97515600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr2:97505600-97521800	Strong transcription	Fetal Stomach	stomach
39	chr2:97505600-97522400	Weak transcription	NH-A	brain
40	chr2:97505800-97511800	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr2:97505800-97512000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr2:97505800-97512200	Weak transcription	Adipose Nuclei	Adipose
43	chr2:97505800-97512200	Weak transcription	Gastric	stomach
44	chr2:97505800-97512200	Weak transcription	Lung	lung
45	chr2:97505800-97512600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr2:97505800-97513200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr2:97505800-97513400	Weak transcription	Colonic Mucosa	Colon
48	chr2:97505800-97513400	Weak transcription	Rectal Smooth Muscle	rectum
49	chr2:97505800-97513600	Weak transcription	Primary neutrophils fromperipheralblood	blood
50	chr2:97505800-97514000	Weak transcription	Fetal Lung	lung

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