Variant report

Variant	rs13379058
Chromosome Location	chr14:78070882-78070883
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:78069297..78071425-chr14:78081435..78083020,2	K562	blood:
2	chr14:78068423..78071899-chr14:78079739..78082860,4	K562	blood:
3	chr14:78069363..78073512-chr14:78081398..78084592,5	MCF-7	breast:
4	chr14:78063987..78068208-chr14:78069326..78072935,4	MCF-7	breast:
5	chr14:78070489..78072668-chr14:78077080..78079522,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100596	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10139059	0.80[ASN][1000 genomes]
rs10139852	0.86[ASN][1000 genomes]
rs10140195	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10148189	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10162458	0.81[ASN][1000 genomes]
rs11626892	0.81[ASN][1000 genomes]
rs12432164	0.95[ASN][1000 genomes]
rs12587835	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs176897	0.95[ASN][1000 genomes]
rs176898	0.95[ASN][1000 genomes]
rs176901	0.95[ASN][1000 genomes]
rs176903	0.95[ASN][1000 genomes]
rs176907	0.93[ASN][1000 genomes]
rs1990806	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2267749	0.80[ASN][1000 genomes]
rs2299922	0.98[ASN][1000 genomes]
rs2299927	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2299929	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28460392	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs28472502	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs58598324	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7157536	0.97[ASN][1000 genomes]
rs7158771	0.98[ASN][1000 genomes]
rs9944097	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[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	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:78021800-78071600	Weak transcription	Colon Smooth Muscle	Colon
2	chr14:78051600-78072600	Weak transcription	Psoas Muscle	Psoas
3	chr14:78055000-78081600	Weak transcription	Right Ventricle	heart
4	chr14:78056600-78072800	Weak transcription	Placenta	Placenta
5	chr14:78057600-78081400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:78062800-78075000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr14:78063200-78077800	Weak transcription	Cortex derived primary cultured neurospheres	brain
8	chr14:78063400-78081600	Weak transcription	Fetal Stomach	stomach
9	chr14:78063800-78071800	Weak transcription	Fetal Lung	lung
10	chr14:78063800-78072000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr14:78063800-78074000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr14:78063800-78074200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:78065400-78071800	Weak transcription	Thymus	Thymus
14	chr14:78065600-78081400	Weak transcription	Duodenum Smooth Muscle	Duodenum
15	chr14:78065800-78071800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr14:78066000-78071600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr14:78066000-78079600	Weak transcription	Dnd41	blood
18	chr14:78066600-78071600	Weak transcription	Fetal Heart	heart
19	chr14:78066600-78074200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
20	chr14:78066800-78071400	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr14:78066800-78078400	Weak transcription	NHLF	lung
22	chr14:78067000-78078200	Weak transcription	Muscle Satellite Cultured Cells	--
23	chr14:78067200-78071400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
24	chr14:78067800-78075000	Enhancers	Stomach Mucosa	stomach
25	chr14:78068400-78071400	Enhancers	NHEK	skin
26	chr14:78068600-78073200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:78069000-78072800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:78069200-78072000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:78069200-78081600	Weak transcription	H1 Cell Line	embryonic stem cell
30	chr14:78069400-78071000	Enhancers	Primary monocytes fromperipheralblood	blood
31	chr14:78069600-78071400	Genic enhancers	Primary B cells from cord blood	blood
32	chr14:78069600-78071800	Enhancers	Duodenum Mucosa	Duodenum
33	chr14:78069600-78072800	Enhancers	Primary T helper cells PMA-I stimulated	--
34	chr14:78069600-78072800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr14:78069800-78072000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr14:78070000-78072200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr14:78070000-78074200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:78070000-78075600	Enhancers	Rectal Mucosa Donor 31	rectum
39	chr14:78070200-78071000	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr14:78070200-78072000	Weak transcription	Primary T cells from cord blood	blood
41	chr14:78070200-78072000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr14:78070200-78072400	Enhancers	A549	lung
43	chr14:78070200-78073400	Enhancers	Small Intestine	intestine
44	chr14:78070200-78074000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
45	chr14:78070200-78074400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr14:78070200-78081600	Weak transcription	Liver	Liver
47	chr14:78070400-78072400	Weak transcription	Pancreas	Pancrea
48	chr14:78070400-78074200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
49	chr14:78070400-78074200	Enhancers	Primary hematopoietic stem cells	blood
50	chr14:78070400-78074200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin

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