Variant report

Variant	rs440715
Chromosome Location	chr14:77688701-77688702
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:77687164..77689503-chr14:77690310..77692436,2	K562	blood:

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

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10138255	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10138268	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12588589	0.81[EUR][1000 genomes]
rs28562820	0.87[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4390523	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs449773	0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs450141	0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs454362	0.83[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs455156	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs57250056	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs61991630	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61991634	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs61991637	0.86[EUR][1000 genomes]
rs73309147	0.95[ASN][1000 genomes]
rs8012703	0.87[EUR][1000 genomes]
rs888058	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9323638	0.87[EUR][1000 genomes];0.85[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	nsv431017	chr14:76938089-77854647	Enhancers Flanking Active TSS Bivalent Enhancer Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	107 gene(s)	inside rSNPs	diseases
2	nsv832834	chr14:77554987-77724357	Bivalent Enhancer Weak transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
3	esv3374587	chr14:77686224-77689072	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases
4	esv3384702	chr14:77686549-77688947	Enhancers Weak transcription Bivalent Enhancer Strong transcription Flanking Active TSS Genic enhancers	Chromatin interactive region lncRNA	n/a	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:77654200-77709400	Weak transcription	Esophagus	oesophagus
2	chr14:77685000-77692800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
3	chr14:77685200-77690800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:77685400-77692600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr14:77686400-77712400	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:77686600-77688800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
7	chr14:77686600-77689600	Weak transcription	Fetal Brain Male	brain
8	chr14:77686600-77690200	Weak transcription	Spleen	Spleen
9	chr14:77686600-77691800	Weak transcription	Fetal Intestine Small	intestine
10	chr14:77687000-77690000	Weak transcription	Pancreatic Islets	Pancreatic Islet
11	chr14:77687000-77691400	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr14:77687000-77692000	Weak transcription	Brain Angular Gyrus	brain
13	chr14:77687000-77697000	Weak transcription	Brain Substantia Nigra	brain
14	chr14:77687000-77697200	Weak transcription	Brain Anterior Caudate	brain
15	chr14:77687000-77697800	Weak transcription	Pancreas	Pancrea
16	chr14:77687200-77689000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr14:77687200-77692400	Weak transcription	Gastric	stomach
18	chr14:77687800-77690800	Enhancers	H1 Cell Line	embryonic stem cell
19	chr14:77687800-77692800	Enhancers	ES-I3 Cell Line	embryonic stem cell
20	chr14:77688000-77688800	Enhancers	H9 Cell Line	embryonic stem cell
21	chr14:77688000-77689000	Enhancers	HUES48 Cell Line	embryonic stem cell
22	chr14:77688000-77689000	Enhancers	iPS-20b Cell Line	embryonic stem cell
23	chr14:77688000-77690800	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr14:77688200-77689400	Enhancers	ES-WA7 Cell Line	embryonic stem cell
25	chr14:77688200-77690400	Enhancers	iPS-15b Cell Line	embryonic stem cell
26	chr14:77688200-77690400	Strong transcription	Fetal Brain Female	brain
27	chr14:77688200-77690600	Enhancers	HUES64 Cell Line	embryonic stem cell
28	chr14:77688400-77688800	Weak transcription	Brain Germinal Matrix	brain
29	chr14:77688400-77692800	Enhancers	HUES6 Cell Line	embryonic stem cell
30	chr14:77688600-77690400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr14:77688600-77690600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:77688600-77692600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland

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