Variant report

Variant	rs12187281
Chromosome Location	chr5:76104019-76104020
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:76094721..76097053-chr5:76101788..76104241,2	K562	blood:
2	chr5:76103612..76107653-chr5:76108707..76113004,3	MCF-7	breast:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12186919	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
2	nsv462213	chr5:76067624-76112869	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
3	nsv598682	chr5:76067624-76112869	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
4	nsv1015997	chr5:76079720-76129241	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1031491	chr5:76083382-76129241	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	esv2763908	chr5:76083394-76134777	Weak transcription Enhancers Bivalent Enhancer Strong transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
7	nsv598683	chr5:76086597-76129053	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv882210	chr5:76086597-76140337	Active TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv1022431	chr5:76086795-76127170	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv1020397	chr5:76086795-76129241	Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
11	nsv598684	chr5:76086795-76130113	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv1025151	chr5:76086795-76134777	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv1025061	chr5:76087544-76129241	Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	nsv1033086	chr5:76088861-76129241	Enhancers Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv1021460	chr5:76089512-76129241	Flanking Bivalent TSS/Enh Enhancers Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv1018194	chr5:76090951-76129241	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
17	nsv598685	chr5:76092225-76128521	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	nsv882211	chr5:76100536-76125577	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:52 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:76098000-76105000	Weak transcription	Right Atrium	heart
2	chr5:76100000-76104200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
3	chr5:76100200-76104400	Enhancers	HUVEC	blood vessel
4	chr5:76101200-76104200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr5:76101400-76104200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr5:76101400-76104200	Enhancers	NHLF	lung
7	chr5:76101400-76104200	Enhancers	Osteobl	bone
8	chr5:76101400-76104400	Enhancers	Hela-S3	cervix
9	chr5:76101400-76104400	Enhancers	HSMMtube	muscle
10	chr5:76101400-76104600	Enhancers	HSMM	muscle
11	chr5:76101400-76105000	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr5:76101400-76105400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr5:76101400-76107000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr5:76101400-76107400	Enhancers	NHEK	skin
15	chr5:76101600-76104400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr5:76101600-76105400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:76101600-76105400	Enhancers	HMEC	breast
18	chr5:76101600-76107000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr5:76101800-76104200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr5:76102400-76104400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr5:76102600-76104200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:76102600-76104200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr5:76102600-76106800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr5:76102600-76109600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:76102600-76114400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr5:76103000-76104400	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
27	chr5:76103000-76104600	Enhancers	Placenta Amnion	Placenta Amnion
28	chr5:76103200-76104200	Enhancers	Primary hematopoietic stem cells short term culture	blood
29	chr5:76103200-76104200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr5:76103200-76104400	Enhancers	Brain Germinal Matrix	brain
31	chr5:76103200-76105400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr5:76103200-76106200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
33	chr5:76103400-76104200	Bivalent Enhancer	HepG2	liver
34	chr5:76103400-76105400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr5:76103400-76105400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr5:76103600-76104200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr5:76103600-76104400	Active TSS	H1 Cell Line	embryonic stem cell
38	chr5:76103600-76104400	Enhancers	NH-A	brain
39	chr5:76103800-76104200	Enhancers	Fetal Lung	lung
40	chr5:76103800-76104800	Active TSS	HUES6 Cell Line	embryonic stem cell
41	chr5:76103800-76105000	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr5:76104000-76104200	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr5:76104000-76104200	Enhancers	HUES64 Cell Line	embryonic stem cell
44	chr5:76104000-76104200	Enhancers	iPS-15b Cell Line	embryonic stem cell
45	chr5:76104000-76104400	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr5:76104000-76104400	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr5:76104000-76104400	Enhancers	Esophagus	oesophagus
48	chr5:76104000-76104400	Enhancers	Fetal Muscle Leg	muscle
49	chr5:76104000-76104400	Enhancers	K562	blood
50	chr5:76104000-76105000	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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