Variant report

Variant	rs11954364
Chromosome Location	chr5:178050044-178050045
allele	A/C
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	FOS	chr5:178049732-178050077	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr5:178049536-178050187	MCF10A-Er-Src	breast:	n/a	n/a
3	E2F4	chr5:178049768-178050069	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr5:178049851-178050083	MCF10A-Er-Src	breast:	n/a	n/a
5	FOS	chr5:178049673-178050126	MCF10A-Er-Src	breast:	n/a	n/a
6	FOS	chr5:178049636-178050145	MCF10A-Er-Src	breast:	n/a	n/a
7	STAT3	chr5:178049684-178050144	MCF10A-Er-Src	breast:	n/a	n/a
8	STAT3	chr5:178049593-178050138	MCF10A-Er-Src	breast:	n/a	n/a
9	STAT3	chr5:178049680-178050093	MCF10A-Er-Src	breast:	n/a	n/a
10	STAT3	chr5:178049613-178050202	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr5:178049792-178050218	MCF10A-Er-Src	breast:	n/a	n/a
12	FOS	chr5:178049705-178050167	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:177767131..177770109-chr5:178047191..178050111,2	MCF-7	breast:
2	chr5:178049762..178051706-chr5:178156637..178158195,2	MCF-7	breast:

Variant related genes	Relation type
RN7SKP70	TF binding region
CLK4	TF binding region
ENSG00000169131	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10903228	1.00[ASN][1000 genomes]
rs11249555	1.00[ASN][1000 genomes]
rs11952857	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs11954313	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11954316	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs174438	0.85[ASN][1000 genomes]
rs262054	0.92[ASN][1000 genomes]
rs262057	0.92[ASN][1000 genomes]
rs262070	0.85[ASN][1000 genomes]
rs3925516	1.00[ASN][1000 genomes]
rs4473788	1.00[ASN][1000 genomes]
rs4639246	1.00[ASN][1000 genomes]
rs6866974	1.00[ASN][1000 genomes]
rs6871372	1.00[ASN][1000 genomes]
rs6889322	1.00[ASN][1000 genomes]
rs73346597	1.00[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs7716274	0.92[ASN][1000 genomes]
rs7718720	0.85[ASN][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	nsv948342	chr5:177384542-178168737	Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	141 gene(s)	inside rSNPs	diseases
2	nsv1029398	chr5:177502106-178070654	Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	136 gene(s)	inside rSNPs	diseases
3	nsv1031666	chr5:177988601-178236068	Bivalent/Poised TSS Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:178026200-178050200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
2	chr5:178026400-178050200	Strong transcription	Primary monocytes fromperipheralblood	blood
3	chr5:178026400-178050200	Strong transcription	Fetal Lung	lung
4	chr5:178026400-178050400	Strong transcription	Placenta	Placenta
5	chr5:178026400-178050400	Strong transcription	Fetal Thymus	thymus
6	chr5:178026400-178050400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr5:178026400-178050600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr5:178026400-178050800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:178026800-178050400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
10	chr5:178027000-178050600	Strong transcription	Primary T cells fromperipheralblood	blood
11	chr5:178027600-178050400	Strong transcription	Primary B cells from peripheral blood	blood
12	chr5:178028000-178050400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr5:178028000-178050400	Strong transcription	NH-A	brain
14	chr5:178028200-178050200	Strong transcription	Fetal Intestine Large	intestine
15	chr5:178028400-178050200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr5:178028400-178050400	Strong transcription	Duodenum Mucosa	Duodenum
17	chr5:178028800-178050400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr5:178030400-178050400	Strong transcription	HSMM	muscle
19	chr5:178030600-178050400	Strong transcription	Osteobl	bone
20	chr5:178031800-178052800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr5:178033000-178050600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr5:178034400-178050200	Strong transcription	Liver	Liver
23	chr5:178035000-178050400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr5:178035000-178050400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr5:178035800-178052000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr5:178036000-178050200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr5:178036400-178050200	Strong transcription	HMEC	breast
28	chr5:178037000-178050200	Strong transcription	Fetal Brain Female	brain
29	chr5:178037000-178050400	Strong transcription	Brain Substantia Nigra	brain
30	chr5:178037200-178050200	Strong transcription	Primary B cells from cord blood	blood
31	chr5:178037200-178050400	Strong transcription	Fetal Kidney	kidney
32	chr5:178037400-178050200	Strong transcription	A549	lung
33	chr5:178037400-178050400	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr5:178037400-178050600	Strong transcription	Rectal Mucosa Donor 29	rectum
35	chr5:178037800-178050800	Weak transcription	Stomach Mucosa	stomach
36	chr5:178038000-178050200	Strong transcription	Muscle Satellite Cultured Cells	--
37	chr5:178038000-178050400	Strong transcription	K562	blood
38	chr5:178039000-178050600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr5:178041600-178051200	Weak transcription	Right Ventricle	heart
40	chr5:178042200-178051400	Weak transcription	Pancreas	Pancrea
41	chr5:178043400-178051400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr5:178044000-178051400	Weak transcription	Fetal Intestine Small	intestine
43	chr5:178044000-178052000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr5:178044000-178052000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr5:178044400-178050400	Strong transcription	HepG2	liver
46	chr5:178044600-178051000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr5:178045600-178050200	Genic enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr5:178045600-178050400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
49	chr5:178046000-178050200	Genic enhancers	Primary T helper naive cells fromperipheralblood	blood
50	chr5:178046000-178050200	Genic enhancers	Primary T helper memory cells from peripheral blood 1	blood

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