Variant report

Variant	rs11158616
Chromosome Location	chr14:66314108-66314109
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:65879350..65881605-chr14:66312642..66315220,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000033170	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11625793	0.93[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11628810	0.93[ASN][1000 genomes]
rs12434294	0.80[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2318302	0.87[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs34098680	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4902423	0.94[ASN][1000 genomes]
rs4902426	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4902427	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8013990	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][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	nsv1043943	chr14:65782466-66698411	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
2	nsv542120	chr14:65782466-66698411	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	55 gene(s)	inside rSNPs	diseases
3	esv3366524	chr14:65924360-66423862	Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	27 gene(s)	inside rSNPs	diseases
4	nsv1045000	chr14:66010886-66372518	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv1042671	chr14:66010886-66399888	Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	nsv817409	chr14:66220075-66990168	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
7	nsv1052389	chr14:66255781-66321562	Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
8	nsv1038849	chr14:66259700-66329919	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv564953	chr14:66287921-67046960	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
10	nsv1050485	chr14:66308283-67109270	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
11	nsv832820	chr14:66310846-66362845	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer	TF binding region Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs11158616	RAB15	cis	parietal	SCAN

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:66307400-66317400	Weak transcription	Spleen	Spleen
2	chr14:66308200-66318600	Weak transcription	Pancreas	Pancrea
3	chr14:66309400-66319000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr14:66310400-66317600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr14:66312400-66319400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
6	chr14:66312800-66314200	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr14:66313000-66316400	Enhancers	Primary hematopoietic stem cells	blood
8	chr14:66313000-66318200	Flanking Active TSS	Dnd41	blood
9	chr14:66313400-66314200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr14:66313400-66314400	Enhancers	Primary B cells from peripheral blood	blood
11	chr14:66313400-66314400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr14:66313400-66314600	Flanking Active TSS	Primary T cells from cord blood	blood
13	chr14:66313400-66314600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
14	chr14:66313400-66314800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr14:66313600-66314400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr14:66313600-66314400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr14:66313600-66314400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr14:66313600-66314400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr14:66313600-66314400	Enhancers	GM12878-XiMat	blood
20	chr14:66313600-66314600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr14:66313600-66314600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
22	chr14:66313600-66315000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
23	chr14:66313600-66315000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr14:66313600-66315800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr14:66313800-66314200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr14:66313800-66314600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr14:66314000-66314200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr14:66314000-66314200	Flanking Active TSS	Fetal Thymus	thymus
29	chr14:66314000-66314400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:66314000-66314400	Flanking Active TSS	Thymus	Thymus
31	chr14:66314000-66316400	Weak transcription	Fetal Brain Female	brain
32	chr14:66314000-66317000	Weak transcription	Fetal Brain Male	brain

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