Variant report

Variant	rs718212
Chromosome Location	chr14:68196636-68196637
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68193596..68197336-chr14:68281825..68284541,3	MCF-7	breast:
2	chr14:68189527..68192099-chr14:68196390..68198301,2	K562	blood:
3	chr14:68195174..68196845-chr14:68200737..68203041,2	K562	blood:
4	chr14:68186603..68190707-chr14:68192396..68197182,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000072121	Chromatin interaction
ENSG00000139988	Chromatin interaction
ENSG00000271697	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs11158687	0.84[EUR][1000 genomes]
rs11158688	0.80[EUR][1000 genomes]
rs17782775	0.84[EUR][1000 genomes]
rs61986978	0.83[EUR][1000 genomes]
rs61991867	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs761512	1.00[CEU][hapmap];0.91[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8018479	0.80[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[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	nsv902068	chr14:68083133-68204876	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1042536	chr14:68136913-68343198	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
3	nsv542122	chr14:68136913-68343198	Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv521832	chr14:68141009-68204876	Transcr. at gene 5' and 3' Weak transcription Active TSS Enhancers Strong transcription Genic enhancers 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	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68189000-68218800	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr14:68189400-68200800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr14:68189800-68213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr14:68193800-68199000	Weak transcription	Aorta	Aorta
5	chr14:68194000-68202200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr14:68195000-68197000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
7	chr14:68195200-68197200	Enhancers	Fetal Brain Male	brain
8	chr14:68195400-68196800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr14:68195400-68197200	Enhancers	Fetal Intestine Small	intestine
10	chr14:68195600-68196800	Enhancers	Cortex derived primary cultured neurospheres	brain
11	chr14:68195600-68197000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr14:68195600-68197200	Flanking Active TSS	Liver	Liver
13	chr14:68195800-68196800	Enhancers	K562	blood
14	chr14:68195800-68197000	Enhancers	Fetal Intestine Large	intestine
15	chr14:68196200-68196800	Enhancers	Brain Germinal Matrix	brain
16	chr14:68196200-68197000	Enhancers	Duodenum Mucosa	Duodenum
17	chr14:68196200-68197000	Weak transcription	Esophagus	oesophagus
18	chr14:68196200-68197000	Weak transcription	Placenta	Placenta
19	chr14:68196200-68200600	Weak transcription	Brain Substantia Nigra	brain
20	chr14:68196200-68200600	Weak transcription	Lung	lung
21	chr14:68196200-68200600	Weak transcription	Pancreas	Pancrea
22	chr14:68196200-68219000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
23	chr14:68196400-68196800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr14:68196400-68196800	Enhancers	NHEK	skin
25	chr14:68196400-68197000	Enhancers	HUES48 Cell Line	embryonic stem cell
26	chr14:68196400-68197200	Enhancers	Fetal Brain Female	brain
27	chr14:68196400-68198800	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr14:68196600-68196800	Enhancers	HUES64 Cell Line	embryonic stem cell
29	chr14:68196600-68196800	Enhancers	iPS-18 Cell Line	embryonic stem cell
30	chr14:68196600-68196800	Enhancers	iPS-20b Cell Line	embryonic stem cell
31	chr14:68196600-68197000	Enhancers	HUES6 Cell Line	embryonic stem cell
32	chr14:68196600-68197200	Enhancers	Stomach Mucosa	stomach
33	chr14:68196600-68197200	Enhancers	HepG2	liver

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