Variant report

Variant	rs61986627
Chromosome Location	chr14:81985814-81985815
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81984391..81988174-chr14:81996632..82001032,4	K562	blood:
2	chr14:81985780..81987427-chr14:81998702..82001494,2	MCF-7	breast:
3	chr14:81985785..81988499-chr14:81997621..82000387,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000071537	Chromatin interaction

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

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

rs_ID	r²[population]
rs12185025	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12434541	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs12435998	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12436488	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs17560087	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.88[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs56357710	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57665733	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs61986625	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61986626	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs61988565	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs72691458	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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	nsv1047694	chr14:81831147-82534026	Enhancers Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
2	nsv542145	chr14:81831147-82534026	Weak transcription Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
3	nsv902120	chr14:81953242-82067555	ZNF genes & repeats Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
4	nsv565299	chr14:81983027-82586324	Enhancers Strong transcription Weak transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81967600-81999600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:81972600-81987000	Weak transcription	NH-A	brain
3	chr14:81972600-81989800	Weak transcription	HMEC	breast
4	chr14:81973800-81988800	Weak transcription	Spleen	Spleen
5	chr14:81973800-81999400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:81973800-81999400	Weak transcription	Esophagus	oesophagus
7	chr14:81974800-81998200	Weak transcription	Fetal Brain Male	brain
8	chr14:81980800-81991600	Strong transcription	Fetal Brain Female	brain
9	chr14:81981200-81999400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr14:81981600-81987400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
11	chr14:81982200-81986400	Enhancers	Psoas Muscle	Psoas
12	chr14:81982200-81986400	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr14:81982400-81986200	Strong transcription	Cortex derived primary cultured neurospheres	brain
14	chr14:81982400-81986200	Strong transcription	Aorta	Aorta
15	chr14:81982400-81986400	Enhancers	Ovary	ovary
16	chr14:81982400-81988800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr14:81982400-81993600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr14:81982600-81991600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:81982800-81987600	Enhancers	Rectal Smooth Muscle	rectum
20	chr14:81983000-81986400	Enhancers	Duodenum Smooth Muscle	Duodenum
21	chr14:81983000-81993600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr14:81983200-81986400	Enhancers	Right Atrium	heart
23	chr14:81983200-81987000	Enhancers	Adipose Nuclei	Adipose
24	chr14:81983200-81993600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
25	chr14:81983200-81999400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:81983400-81986600	Genic enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr14:81983400-81987000	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr14:81983600-81986400	Enhancers	Skeletal Muscle Male	skeletal muscle
29	chr14:81983600-81986400	Enhancers	HepG2	liver
30	chr14:81983600-81987000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr14:81983600-81987600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:81983600-81987800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr14:81983800-81989200	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr14:81983800-81999400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr14:81984000-81988400	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:81984000-81988800	Weak transcription	NHEK	skin
37	chr14:81984000-81989600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:81984000-81998800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:81984200-81986200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr14:81984200-81987000	Enhancers	Small Intestine	intestine
41	chr14:81984200-81989000	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr14:81984200-81989600	Weak transcription	Brain Germinal Matrix	brain
43	chr14:81984200-81993000	Weak transcription	HSMMtube	muscle
44	chr14:81984200-81993600	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr14:81984200-81999200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr14:81984400-81986800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr14:81984400-81987200	Weak transcription	Osteobl	bone
48	chr14:81984400-81987800	Weak transcription	HSMM	muscle
49	chr14:81984400-81988800	Weak transcription	HUES48 Cell Line	embryonic stem cell
50	chr14:81984400-81988800	Weak transcription	NHDF-Ad	bronchial

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