Variant report

Variant	rs13034349
Chromosome Location	chr2:98329197-98329198
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:98326491..98329371-chr2:98358007..98360980,3	MCF-7	breast:
2	chr2:98326581..98329549-chr2:98337971..98340144,2	MCF-7	breast:
3	chr2:98327141..98329201-chr2:98354402..98356223,2	K562	blood:

Extended variants
information (count: 27 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs1020396	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.96[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1042705	0.81[CHB][hapmap]
rs10496323	1.00[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.81[LWK][hapmap];0.92[ASN][1000 genomes]
rs11123849	0.81[CHB][hapmap]
rs11123861	0.80[CHB][hapmap];0.81[CHD][hapmap];0.81[LWK][hapmap]
rs11547232	0.92[ASN][1000 genomes]
rs11680855	1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[JPT][hapmap];0.93[LWK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.96[ASN][1000 genomes]
rs11893601	0.81[CHB][hapmap]
rs11894651	0.81[CHB][hapmap]
rs12994966	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13000505	0.92[ASN][1000 genomes]
rs1463173	0.80[CHB][hapmap]
rs1463174	1.00[CHB][hapmap];0.94[CHD][hapmap];0.86[JPT][hapmap];0.96[ASN][1000 genomes]
rs1800649	0.95[CHB][hapmap];0.92[CHD][hapmap];0.86[JPT][hapmap];0.81[LWK][hapmap];0.91[ASN][1000 genomes]
rs1823324	0.81[CHB][hapmap]
rs2053824	0.81[CHB][hapmap]
rs2276645	0.84[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];1.00[JPT][hapmap];0.87[MEX][hapmap];0.94[TSI][hapmap];0.97[AMR][1000 genomes];0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2290124	0.81[CHB][hapmap]
rs35211079	0.92[ASN][1000 genomes]
rs55772322	0.91[ASN][1000 genomes]
rs56281704	0.93[ASN][1000 genomes]
rs62157580	0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	nsv531382	chr2:98250628-98457616	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
4	nsv874696	chr2:98309882-98362907	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	esv33510	chr2:98317103-98341302	Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs13034349	UNQ2430	cis	multi-tissue	Pritchard
rs13034349	ZAP70	cis	cerebellum	SCAN
rs13034349	ANKRD36B	cis	cerebellum	SCAN
rs13034349	ACTR1B	cis	cerebellum	SCAN

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:98324600-98329200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:98324600-98329400	Enhancers	K562	blood
3	chr2:98325400-98329400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr2:98326000-98329400	Enhancers	Primary T killer memory cells from peripheral blood	blood
5	chr2:98326200-98329200	Enhancers	Primary T cells from cord blood	blood
6	chr2:98326200-98329200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr2:98326200-98329200	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr2:98326200-98329200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
9	chr2:98326200-98329200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:98326200-98329200	Enhancers	Fetal Thymus	thymus
11	chr2:98326200-98329400	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr2:98326200-98329400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr2:98326200-98333000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:98326600-98329600	Enhancers	Thymus	Thymus
15	chr2:98326800-98329400	Weak transcription	Primary B cells from peripheral blood	blood
16	chr2:98327000-98329800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr2:98327000-98330800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr2:98327600-98330200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr2:98327800-98329200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr2:98328200-98329400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr2:98328200-98330000	Enhancers	Right Ventricle	heart
22	chr2:98328800-98329200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr2:98328800-98330000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr2:98328800-98330400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:98329000-98329400	Bivalent Enhancer	HepG2	liver
26	chr2:98329000-98329800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:98329000-98330000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
28	chr2:98329000-98330000	Flanking Active TSS	Dnd41	blood
29	chr2:98329000-98330200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
30	chr2:98329000-98330200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
31	chr2:98329000-98330200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
32	chr2:98329000-98330200	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:98329000-98330600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr2:98329000-98331000	Enhancers	Primary hematopoietic stem cells	blood
35	chr2:98329000-98331600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr2:98329000-98331600	Enhancers	Fetal Muscle Trunk	muscle
37	chr2:98329000-98331800	Enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr2:98329000-98336000	Enhancers	Fetal Muscle Leg	muscle

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