Variant report

Variant	rs34895357
Chromosome Location	chr2:97587049-97587050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:97583940..97587823-chr2:97614643..97619569,4	MCF-7	breast:
2	chr2:97584545..97587294-chr2:97599771..97602609,2	MCF-7	breast:
3	chr2:97584974..97587499-chr2:97587901..97590886,3	K562	blood:
4	chr2:97584997..97587138-chr2:97589413..97591489,2	MCF-7	breast:
5	chr2:97532825..97534357-chr2:97586333..97589322,2	K562	blood:
6	chr2:97575476..97578400-chr2:97584018..97588039,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000168754	Chromatin interaction
ENSG00000168758	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10202644	0.84[AMR][1000 genomes]
rs1257018	0.84[AMR][1000 genomes]
rs1257019	0.81[AMR][1000 genomes]
rs1257020	0.84[AMR][1000 genomes]
rs12717785	0.88[AMR][1000 genomes]
rs13016654	0.81[AMR][1000 genomes]
rs13021723	0.81[AMR][1000 genomes]
rs1623881	0.84[AMR][1000 genomes]
rs1624844	0.84[AMR][1000 genomes]
rs1730126	0.81[AMR][1000 genomes]
rs1730128	0.81[AMR][1000 genomes]
rs1730129	0.81[AMR][1000 genomes]
rs1730130	0.81[AMR][1000 genomes]
rs1730131	0.81[AMR][1000 genomes]
rs1796027	0.81[AMR][1000 genomes]
rs1796028	0.81[AMR][1000 genomes]
rs1796044	0.81[AMR][1000 genomes]
rs1796045	0.81[AMR][1000 genomes]
rs1796046	0.84[AMR][1000 genomes]
rs1796047	0.81[AMR][1000 genomes]
rs6576992	0.81[AMR][1000 genomes]
rs6576993	0.84[AMR][1000 genomes]
rs6576994	0.81[AMR][1000 genomes]
rs6576995	0.81[AMR][1000 genomes]
rs6707255	0.84[AMR][1000 genomes]
rs6725927	0.89[AMR][1000 genomes]
rs7569434	0.80[AMR][1000 genomes]
rs7584335	0.81[AMR][1000 genomes]
rs7593493	0.83[AMR][1000 genomes]
rs7597743	0.84[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 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	nsv582497	chr2:97569305-97715154	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	esv2757819	chr2:97571109-98336507	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
11	esv2759077	chr2:97571109-98336507	Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:97577200-97589600	Weak transcription	Fetal Heart	heart
2	chr2:97582400-97589200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr2:97582600-97587800	Weak transcription	Primary T helper cells PMA-I stimulated	--
4	chr2:97582600-97589000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr2:97582600-97593000	Weak transcription	Right Atrium	heart
6	chr2:97582800-97589200	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr2:97582800-97589400	Weak transcription	Brain Inferior Temporal Lobe	brain
8	chr2:97583400-97589200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr2:97583400-97589200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr2:97583600-97587600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr2:97583600-97590400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:97583800-97587400	Weak transcription	Primary T cells from cord blood	blood
13	chr2:97583800-97587800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:97584000-97587600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr2:97584200-97590000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr2:97584800-97587200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr2:97585200-97587400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
18	chr2:97585200-97591000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr2:97585600-97587200	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr2:97586000-97589200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:97586400-97587400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr2:97586400-97588000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
23	chr2:97586400-97588000	Bivalent Enhancer	iPS-20b Cell Line	embryonic stem cell
24	chr2:97586600-97588000	Bivalent Enhancer	HUES6 Cell Line	embryonic stem cell
25	chr2:97586800-97587200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr2:97586800-97587400	Enhancers	iPS-18 Cell Line	embryonic stem cell
27	chr2:97586800-97587400	Enhancers	K562	blood
28	chr2:97586800-97587600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr2:97586800-97587800	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
30	chr2:97586800-97587800	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
31	chr2:97587000-97587200	Flanking Bivalent TSS/Enh	ES-I3 Cell Line	embryonic stem cell
32	chr2:97587000-97587200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
33	chr2:97587000-97592200	Weak transcription	Brain Germinal Matrix	brain

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