Variant report

Variant	rs57947677
Chromosome Location	chr14:68984342-68984343
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68968310..68970702-chr14:68984207..68986493,2	MCF-7	breast:
2	chr14:68984084..68986661-chr14:69258955..69262203,4	MCF-7	breast:
3	chr14:68960140..68963220-chr14:68983834..68986769,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10483810	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2842339	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2842343	1.00[EUR][1000 genomes]
rs2842344	1.00[EUR][1000 genomes]
rs59404246	0.80[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61985769	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985771	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61985772	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869154	chr14:68366754-69041768	Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
2	nsv832822	chr14:68874640-69060272	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68968000-68991200	Enhancers	Fetal Lung	lung
2	chr14:68973400-68985000	Weak transcription	Colonic Mucosa	Colon
3	chr14:68973800-68984600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr14:68974800-68984600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:68974800-68984800	Weak transcription	Brain Cingulate Gyrus	brain
6	chr14:68976400-68985800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr14:68977400-68984400	Weak transcription	HepG2	liver
8	chr14:68977600-68985800	Weak transcription	Osteobl	bone
9	chr14:68977600-68988400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr14:68977800-68984600	Weak transcription	Left Ventricle	heart
11	chr14:68979000-68985200	Weak transcription	Aorta	Aorta
12	chr14:68980000-68984800	Weak transcription	Spleen	Spleen
13	chr14:68980200-68984600	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr14:68980200-68984600	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr14:68980200-68984600	Weak transcription	Small Intestine	intestine
16	chr14:68980200-68985000	Weak transcription	Right Ventricle	heart
17	chr14:68980200-68985200	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:68980200-68985600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr14:68980200-68985600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr14:68980200-68985600	Weak transcription	NHDF-Ad	bronchial
21	chr14:68980200-68985600	Weak transcription	NHLF	lung
22	chr14:68980400-68984800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr14:68980400-68985000	Weak transcription	Sigmoid Colon	Sigmoid Colon
24	chr14:68980400-68985600	Weak transcription	Rectal Mucosa Donor 29	rectum
25	chr14:68980600-68986000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr14:68981000-68984800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr14:68981400-68984600	Weak transcription	Primary T cells fromperipheralblood	blood
28	chr14:68981400-68984600	Weak transcription	Brain Anterior Caudate	brain
29	chr14:68981400-68984600	Weak transcription	Esophagus	oesophagus
30	chr14:68981400-68984600	Weak transcription	Fetal Muscle Trunk	muscle
31	chr14:68981400-68984600	Weak transcription	Rectal Smooth Muscle	rectum
32	chr14:68981400-68984600	Weak transcription	Thymus	Thymus
33	chr14:68981400-68984800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr14:68981400-68984800	Weak transcription	Lung	lung
35	chr14:68981400-68985000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr14:68981400-68986000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr14:68981600-68984600	Weak transcription	Fetal Intestine Large	intestine
38	chr14:68981600-68984800	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr14:68981600-68985200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
40	chr14:68981600-68985600	Weak transcription	GM12878-XiMat	blood
41	chr14:68981600-68985800	Weak transcription	A549	lung
42	chr14:68981800-68984600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:68981800-68984600	Weak transcription	Primary T helper cells PMA-I stimulated	--
44	chr14:68981800-68984800	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr14:68981800-68984800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr14:68981800-68985600	Weak transcription	Hela-S3	cervix
47	chr14:68982000-68984600	Weak transcription	Fetal Intestine Small	intestine
48	chr14:68982200-68984600	Weak transcription	Placenta Amnion	Placenta Amnion
49	chr14:68982400-68984400	Weak transcription	Primary B cells from cord blood	blood
50	chr14:68982400-68984600	Weak transcription	Primary B cells from peripheral blood	blood

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