Variant report

Variant	rs34310441
Chromosome Location	chr17:46227980-46227981
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:46177401..46179002-chr17:46225880..46228400,3	K562	blood:
2	chr17:46227948..46230342-chr17:46234460..46237346,3	K562	blood:
3	chr17:46221592..46224484-chr17:46225566..46228411,3	K562	blood:
4	chr17:46104210..46106348-chr17:46226944..46229187,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000005243	Chromatin interaction
ENSG00000108468	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11554926	1.00[AMR][1000 genomes]
rs12940653	1.00[AMR][1000 genomes]
rs34206139	1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs34310493	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34764028	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35261895	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469808	chr17:46049868-46228673	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv482897	chr17:46049868-46228673	Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
3	nsv908576	chr17:46147807-46260366	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46200400-46236600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr17:46211200-46231600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr17:46212400-46234800	Strong transcription	Primary T helper cells fromperipheralblood	blood
4	chr17:46216400-46251400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr17:46216600-46235600	Strong transcription	Primary T cells fromperipheralblood	blood
6	chr17:46220800-46228400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr17:46220800-46249000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr17:46221200-46228000	Weak transcription	Primary B cells from peripheral blood	blood
9	chr17:46221400-46230800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr17:46221600-46238400	Weak transcription	Fetal Thymus	thymus
11	chr17:46222800-46234600	Strong transcription	Primary T helper cells PMA-I stimulated	--
12	chr17:46223200-46228400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
13	chr17:46225400-46228800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr17:46225400-46231600	Weak transcription	GM12878-XiMat	blood
15	chr17:46225600-46228000	Strong transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr17:46225600-46229000	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr17:46226000-46230800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr17:46226000-46230800	Weak transcription	Thymus	Thymus
19	chr17:46226200-46228000	Enhancers	HUES6 Cell Line	embryonic stem cell
20	chr17:46226200-46230600	Weak transcription	Primary hematopoietic stem cells	blood
21	chr17:46226200-46231400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr17:46226400-46228200	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr17:46226400-46234600	Strong transcription	Primary T cells from cord blood	blood
24	chr17:46226600-46228800	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
25	chr17:46226600-46229000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr17:46226600-46231800	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr17:46226800-46230600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr17:46227000-46228000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr17:46227000-46230600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr17:46227000-46233600	Weak transcription	Spleen	Spleen
31	chr17:46227200-46228200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr17:46227200-46228400	Enhancers	HUES48 Cell Line	embryonic stem cell
33	chr17:46227200-46228600	Enhancers	ES-I3 Cell Line	embryonic stem cell
34	chr17:46227200-46230600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr17:46227200-46230800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr17:46227400-46228600	Strong transcription	Liver	Liver

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