Variant report

Variant	rs13163745
Chromosome Location	chr5:178957057-178957058
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ELF1	chr5:178957013-178958017	GM12878	blood:	n/a	chr5:178957273-178957285
2	POLR2A	chr5:178956935-178958170	GM18505	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:178955819..178957353-chr5:179123603..179125281,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000253520	TF binding region

Extended variants
information (count: 22 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1044858	0.80[EUR][1000 genomes]
rs35064975	0.93[EUR][1000 genomes]
rs35678620	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs36112669	0.93[EUR][1000 genomes]
rs62395224	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs6876210	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817413	chr5:178415365-179020558	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
2	esv2758031	chr5:178661266-179037529	ZNF genes & repeats Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	esv2759397	chr5:178661266-179037529	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
4	nsv531996	chr5:178669297-178989687	Enhancers Active TSS Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv34709	chr5:178720968-178961710	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
6	esv2757148	chr5:178720968-178961872	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	esv34254	chr5:178749394-178961710	Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv883260	chr5:178828854-178961710	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
9	esv2829850	chr5:178828854-179060995	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	122 gene(s)	inside rSNPs	diseases
10	nsv949554	chr5:178832325-179309513	Transcr. at gene 5' and 3' Weak transcription Strong transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
11	nsv5158	chr5:178946891-178968477	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1022509	chr5:178950829-179002751	Enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	nsv883269	chr5:178951106-179031595	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
14	nsv883270	chr5:178951106-179350387	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	312 gene(s)	inside rSNPs	diseases
15	nsv1015477	chr5:178954409-179016804	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
16	nsv883271	chr5:178955046-179031595	Strong transcription Active TSS Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs13163745	HNRPH1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178954600-178957200	Weak transcription	Spleen	Spleen
2	chr5:178954800-178957400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr5:178956400-178958800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr5:178956600-178957400	Flanking Active TSS	Primary hematopoietic stem cells	blood
5	chr5:178956600-178957400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr5:178956600-178957800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr5:178956600-178958200	Active TSS	GM12878-XiMat	blood
8	chr5:178956600-178958800	Flanking Active TSS	Dnd41	blood
9	chr5:178956800-178957200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr5:178956800-178957200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
11	chr5:178956800-178957200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr5:178956800-178957400	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr5:178956800-178957800	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr5:178956800-178957800	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr5:178956800-178957800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr5:178956800-178958000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr5:178956800-178958000	Active TSS	Brain Anterior Caudate	brain
18	chr5:178956800-178958000	Active TSS	Fetal Lung	lung
19	chr5:178956800-178958000	Active TSS	Osteobl	bone
20	chr5:178956800-178958200	Active TSS	ES-I3 Cell Line	embryonic stem cell
21	chr5:178957000-178957200	Active TSS	H1 Cell Line	embryonic stem cell
22	chr5:178957000-178957200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr5:178957000-178957200	Enhancers	Primary B cells from cord blood	blood
24	chr5:178957000-178957200	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
25	chr5:178957000-178957200	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr5:178957000-178957200	Active TSS	Liver	Liver
27	chr5:178957000-178957200	Flanking Active TSS	Colon Smooth Muscle	Colon
28	chr5:178957000-178957200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
29	chr5:178957000-178957200	Bivalent/Poised TSS	Fetal Stomach	stomach
30	chr5:178957000-178957200	Enhancers	Gastric	stomach
31	chr5:178957000-178957200	Active TSS	Left Ventricle	heart
32	chr5:178957000-178957200	Enhancers	Lung	lung
33	chr5:178957000-178957200	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
34	chr5:178957000-178957200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
35	chr5:178957000-178957400	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
36	chr5:178957000-178957400	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
37	chr5:178957000-178957400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
38	chr5:178957000-178957400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr5:178957000-178957600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
40	chr5:178957000-178957600	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
41	chr5:178957000-178957600	Active TSS	Colonic Mucosa	Colon
42	chr5:178957000-178957600	Flanking Active TSS	Fetal Thymus	thymus
43	chr5:178957000-178957800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr5:178957000-178957800	Active TSS	Primary T cells from cord blood	blood
45	chr5:178957000-178957800	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
46	chr5:178957000-178957800	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
47	chr5:178957000-178957800	Active TSS	Rectal Mucosa Donor 31	rectum
48	chr5:178957000-178957800	Enhancers	K562	blood
49	chr5:178957000-178958000	Active TSS	H9 Cell Line	embryonic stem cell
50	chr5:178957000-178958000	Active TSS	HUES64 Cell Line	embryonic stem cell

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