Variant report

Variant	rs13135426
Chromosome Location	chr4:48679588-48679589
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:48674728..48678488-chr4:48678619..48683185,5	K562	blood:

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs13139533	0.82[AFR][1000 genomes]
rs34020775	0.82[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7656849	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002674	chr4:48507608-49032909	Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv537087	chr4:48507608-49032909	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1010923	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
4	nsv537088	chr4:48575156-49083089	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
5	nsv1013762	chr4:48580484-49032909	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
6	nsv537089	chr4:48580484-49032909	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv999203	chr4:48645887-48735512	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	esv1802666	chr4:48646594-48721327	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
9	nsv1013914	chr4:48652784-48728934	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
10	nsv537090	chr4:48652784-48728934	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13135426	SLC10A4	cis	lung	GTEx

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:48621200-48729400	Weak transcription	Thymus	Thymus
2	chr4:48638400-48686200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr4:48655800-48685600	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr4:48656600-48680200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr4:48657400-48686000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr4:48657400-48688600	Weak transcription	Brain Angular Gyrus	brain
7	chr4:48657600-48688600	Weak transcription	Brain Cingulate Gyrus	brain
8	chr4:48663600-48700200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr4:48664400-48683200	Weak transcription	Ovary	ovary
10	chr4:48666400-48683200	Weak transcription	Pancreas	Pancrea
11	chr4:48666600-48685600	Weak transcription	Dnd41	blood
12	chr4:48666600-48686800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr4:48668200-48683000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr4:48668200-48686200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr4:48668200-48688000	Weak transcription	Brain Hippocampus Middle	brain
16	chr4:48668200-48689400	Weak transcription	HSMM	muscle
17	chr4:48669400-48683000	Weak transcription	Primary T cells from cord blood	blood
18	chr4:48670000-48691000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr4:48670200-48700000	Weak transcription	Esophagus	oesophagus
20	chr4:48670200-48702000	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr4:48670200-48702000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr4:48670400-48696000	Weak transcription	Left Ventricle	heart
23	chr4:48670600-48679600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr4:48670800-48683000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:48671000-48680000	Weak transcription	Small Intestine	intestine
26	chr4:48671000-48683000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
27	chr4:48671200-48685400	Weak transcription	Fetal Thymus	thymus
28	chr4:48671200-48688600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr4:48671400-48682800	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr4:48671400-48683000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
31	chr4:48671400-48683200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr4:48671400-48685800	Weak transcription	Primary B cells from peripheral blood	blood
33	chr4:48671400-48686200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr4:48671400-48686400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr4:48671400-48696000	Weak transcription	Right Ventricle	heart
36	chr4:48671600-48685800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr4:48672000-48681400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr4:48672200-48686400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr4:48673000-48686000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr4:48674800-48689600	Weak transcription	HUES48 Cell Line	embryonic stem cell
41	chr4:48674800-48689600	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr4:48675000-48685800	Weak transcription	Primary B cells from cord blood	blood
43	chr4:48675000-48688800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:48676000-48681000	Weak transcription	Stomach Mucosa	stomach
45	chr4:48677000-48686400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr4:48677200-48681000	Weak transcription	Right Atrium	heart
47	chr4:48677200-48683800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr4:48677400-48683200	Active TSS	Colonic Mucosa	Colon
49	chr4:48677800-48680000	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr4:48678200-48683400	Active TSS	Rectal Mucosa Donor 31	rectum

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