Variant report

Variant	rs991786
Chromosome Location	chr14:38016099-38016100
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:38015790..38016628-chr14:38036265..38036824,2	MCF-7	breast:
2	chr14:37992935..37996265-chr14:38014500..38016971,3	MCF-7	breast:
3	chr14:38010426..38020494-chr14:38050537..38062032,33	MCF-7	breast:
4	chr14:38015716..38016592-chr14:38036162..38036840,3	MCF-7	breast:
5	chr14:38014910..38017892-chr14:38018379..38020104,3	MCF-7	breast:
6	chr14:38011817..38019831-chr14:38060493..38066722,23	MCF-7	breast:
7	chr14:38015564..38017191-chr14:38035879..38037798,2	MCF-7	breast:
8	chr14:38015765..38016748-chr14:38036033..38036608,3	MCF-7	breast:
9	chr14:38015801..38018885-chr14:38023439..38025861,3	MCF-7	breast:
10	chr14:38014337..38017689-chr14:38019804..38021819,4	MCF-7	breast:
11	chr14:38013523..38020726-chr14:38055776..38060374,10	MCF-7	breast:
12	chr14:38015701..38018409-chr14:38034493..38036492,3	MCF-7	breast:
13	chr14:38013794..38017816-chr14:38049871..38055560,6	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000259087	Chromatin interaction
ENSG00000129514	Chromatin interaction
ENSG00000139865	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs17106851	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17106852	1.00[CEU][hapmap];0.84[EUR][1000 genomes]
rs17179162	1.00[CEU][hapmap]
rs17179204	0.91[CEU][hapmap];1.00[AFR][1000 genomes]
rs17768411	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs17768417	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17768423	1.00[CEU][hapmap];0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17768434	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs55751336	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56077070	1.00[AFR][1000 genomes]
rs56104307	0.84[EUR][1000 genomes]
rs56374777	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs719022	0.87[AMR][1000 genomes];0.84[EUR][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	nsv530038	chr14:37590543-38336191	Weak transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv901639	chr14:37743583-38038468	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv564349	chr14:37890433-38034434	Enhancers Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
4	nsv901641	chr14:37939401-38040755	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:29 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:38008000-38021000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
2	chr14:38008200-38017800	Weak transcription	Aorta	Aorta
3	chr14:38013800-38021200	Weak transcription	Right Ventricle	heart
4	chr14:38013800-38023200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
5	chr14:38014600-38035800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr14:38015600-38016200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr14:38015600-38016200	Flanking Active TSS	HepG2	liver
8	chr14:38015600-38016400	Flanking Active TSS	Liver	Liver
9	chr14:38015800-38016200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr14:38015800-38016200	Flanking Active TSS	A549	lung
11	chr14:38015800-38016200	Flanking Active TSS	HSMMtube	muscle
12	chr14:38015800-38016200	Enhancers	NHDF-Ad	bronchial
13	chr14:38015800-38016400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr14:38015800-38016400	Enhancers	NHLF	lung
15	chr14:38015800-38016600	Enhancers	Fetal Intestine Small	intestine
16	chr14:38016000-38016200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:38016000-38016200	Enhancers	Gastric	stomach
18	chr14:38016000-38016200	Genic enhancers	Left Ventricle	heart
19	chr14:38016000-38016200	Enhancers	Pancreas	Pancrea
20	chr14:38016000-38016200	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
21	chr14:38016000-38016200	Enhancers	Stomach Mucosa	stomach
22	chr14:38016000-38016200	Flanking Active TSS	Osteobl	bone
23	chr14:38016000-38016400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr14:38016000-38016400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr14:38016000-38016400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:38016000-38016400	Enhancers	Brain Hippocampus Middle	brain
27	chr14:38016000-38016400	Enhancers	Brain Substantia Nigra	brain
28	chr14:38016000-38016400	Flanking Active TSS	Fetal Intestine Large	intestine
29	chr14:38016000-38016400	Active TSS	Rectal Mucosa Donor 31	rectum

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