Variant report

Variant	rs7978495
Chromosome Location	chr12:117474051-117474052
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:117470652..117475607-chr12:117477009..117480553,6	K562	blood:
2	chr12:117470409..117472666-chr12:117473842..117475716,2	MCF-7	breast:
3	chr12:117473852..117475862-chr12:117477409..117479027,2	K562	blood:
4	chr12:117468241..117470806-chr12:117471546..117474082,2	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10507276	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10850736	0.81[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11608609	0.92[EUR][1000 genomes]
rs11608681	0.92[EUR][1000 genomes]
rs11609741	0.94[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11609917	0.94[EUR][1000 genomes]
rs11610984	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11614947	0.86[EUR][1000 genomes]
rs3741465	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6490100	0.91[EUR][1000 genomes]
rs7301877	0.81[AMR][1000 genomes];0.97[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7976384	0.97[EUR][1000 genomes];0.80[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832524	chr12:117314110-117496576	Weak transcription Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv519118	chr12:117386085-117521180	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv899541	chr12:117414974-117497066	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1804583	chr12:117472107-117525169	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	n/a

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:117452800-117479000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
2	chr12:117462000-117477400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr12:117466200-117474600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr12:117466400-117475600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr12:117466600-117479800	Weak transcription	Hela-S3	cervix
6	chr12:117467000-117475400	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr12:117467000-117479600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr12:117467200-117475400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
9	chr12:117467400-117486000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr12:117468200-117477000	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr12:117468600-117477400	Weak transcription	Primary B cells from cord blood	blood
12	chr12:117469200-117474800	Weak transcription	Lung	lung
13	chr12:117469800-117474600	Enhancers	Fetal Heart	heart
14	chr12:117470400-117476800	Enhancers	Stomach Mucosa	stomach
15	chr12:117470800-117474600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
16	chr12:117470800-117474800	Enhancers	Left Ventricle	heart
17	chr12:117470800-117476400	Strong transcription	Dnd41	blood
18	chr12:117470800-117483400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr12:117471200-117482800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr12:117471400-117479800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr12:117471600-117474200	Strong transcription	HepG2	liver
22	chr12:117471600-117475200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr12:117471600-117480200	Weak transcription	Esophagus	oesophagus
24	chr12:117471600-117482600	Weak transcription	Primary B cells from peripheral blood	blood
25	chr12:117471800-117474400	Weak transcription	Spleen	Spleen
26	chr12:117471800-117477200	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr12:117471800-117477400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
28	chr12:117472000-117475400	Strong transcription	Primary neutrophils fromperipheralblood	blood
29	chr12:117472000-117482600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr12:117472200-117477200	Strong transcription	Monocytes-CD14+_RO01746	blood
31	chr12:117472200-117477400	Weak transcription	Primary hematopoietic stem cells	blood
32	chr12:117472200-117478400	Weak transcription	Primary T cells from cord blood	blood
33	chr12:117472200-117479800	Weak transcription	Right Atrium	heart
34	chr12:117472400-117475000	Weak transcription	A549	lung
35	chr12:117472600-117474600	Enhancers	Breast Myoepithelial Primary Cells	Breast
36	chr12:117472600-117475800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr12:117472600-117480200	Weak transcription	Ovary	ovary
38	chr12:117472600-117483000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr12:117472800-117475600	Weak transcription	Right Ventricle	heart
40	chr12:117473000-117475600	Weak transcription	Gastric	stomach
41	chr12:117473000-117477600	Weak transcription	K562	blood
42	chr12:117473400-117474200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr12:117473400-117474600	Strong transcription	Pancreas	Pancrea
44	chr12:117473400-117478400	Weak transcription	Brain Germinal Matrix	brain
45	chr12:117473800-117477600	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr12:117474000-117474200	Enhancers	Fetal Thymus	thymus
47	chr12:117474000-117474200	Bivalent Enhancer	Stomach Smooth Muscle	stomach
48	chr12:117474000-117474600	Enhancers	Fetal Brain Female	brain
49	chr12:117474000-117475000	Enhancers	H1 Cell Line	embryonic stem cell
50	chr12:117474000-117479800	Weak transcription	HUES6 Cell Line	embryonic stem cell

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