Variant report

Variant	rs2064958
Chromosome Location	chr14:39336984-39336985
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:39336463..39337323-chr14:39484303..39484820,2	MCF-7	breast:
2	chr14:38372704..38373564-chr14:39336508..39337178,3	K562	blood:
3	chr14:39191195..39191809-chr14:39336434..39337274,3	MCF-7	breast:
4	chr14:39190836..39192002-chr14:39336266..39337492,9	MCF-7	breast:
5	chr14:39190760..39191270-chr14:39336463..39337395,3	K562	blood:
6	chr14:39333342..39335144-chr14:39336605..39338510,2	K562	blood:
7	chr14:39074220..39075249-chr14:39336439..39337107,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271468	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs2064957	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56718542	0.82[AFR][1000 genomes]
rs57949090	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73277171	1.00[AMR][1000 genomes]
rs73277188	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281343	0.83[AFR][1000 genomes]
rs73281360	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281373	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281378	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73281380	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8006698	0.91[AFR][1000 genomes];1.00[AMR][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	nsv564416	chr14:39140536-39440106	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv470631	chr14:39153764-39440106	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	esv3429206	chr14:39160730-39648836	Strong transcription Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
4	nsv932194	chr14:39173578-39411337	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:23 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:39334800-39337200	Enhancers	Brain Angular Gyrus	brain
2	chr14:39334800-39339000	Enhancers	Brain Cingulate Gyrus	brain
3	chr14:39334800-39340000	Enhancers	Brain Hippocampus Middle	brain
4	chr14:39334800-39340200	Enhancers	Brain Substantia Nigra	brain
5	chr14:39335000-39337000	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr14:39335200-39337400	Enhancers	Pancreatic Islets	Pancreatic Islet
7	chr14:39335200-39337600	Weak transcription	Pancreas	Pancrea
8	chr14:39335600-39337000	Enhancers	Skeletal Muscle Male	skeletal muscle
9	chr14:39335600-39337600	Enhancers	Fetal Intestine Small	intestine
10	chr14:39335800-39337000	Enhancers	HUVEC	blood vessel
11	chr14:39336200-39337000	Enhancers	Fetal Lung	lung
12	chr14:39336200-39337600	Weak transcription	Fetal Intestine Large	intestine
13	chr14:39336200-39338400	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr14:39336400-39337000	Weak transcription	Rectal Mucosa Donor 31	rectum
15	chr14:39336400-39337000	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr14:39336600-39337800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr14:39336600-39339800	Enhancers	Stomach Mucosa	stomach
18	chr14:39336600-39340000	Enhancers	Fetal Kidney	kidney
19	chr14:39336800-39337200	Enhancers	Fetal Heart	heart
20	chr14:39336800-39337400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr14:39336800-39337600	Enhancers	Liver	Liver
22	chr14:39336800-39337600	Weak transcription	Brain Anterior Caudate	brain
23	chr14:39336800-39339200	Weak transcription	Brain Inferior Temporal Lobe	brain

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