Variant report

Variant	rs8021339
Chromosome Location	chr14:68976764-68976765
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:68976640..68979821-chr14:69259766..69263690,3	MCF-7	breast:
2	chr14:68973059..68975623-chr14:68975838..68977423,2	MCF-7	breast:
3	chr14:68939074..68942142-chr14:68974708..68977098,3	MCF-7	breast:
4	chr14:68973167..68978172-chr14:69258473..69260680,4	MCF-7	breast:
5	chr14:68974039..68976954-chr14:68979393..68981766,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs10131789	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10135398	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1541390	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8015246	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[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:89 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:68965400-68976800	Enhancers	Fetal Thymus	thymus
2	chr14:68967400-68981600	Enhancers	Fetal Muscle Leg	muscle
3	chr14:68967400-68982400	Enhancers	Primary B cells from peripheral blood	blood
4	chr14:68968000-68991200	Enhancers	Fetal Lung	lung
5	chr14:68971000-68983800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:68971800-68976800	Enhancers	Lung	lung
7	chr14:68971800-68981400	Enhancers	Fetal Muscle Trunk	muscle
8	chr14:68972000-68980200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr14:68972600-68982000	Enhancers	Fetal Intestine Small	intestine
10	chr14:68973400-68976800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr14:68973400-68977000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
12	chr14:68973400-68979200	Weak transcription	Right Ventricle	heart
13	chr14:68973400-68981200	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr14:68973400-68985000	Weak transcription	Colonic Mucosa	Colon
15	chr14:68973600-68977600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:68973800-68976800	Weak transcription	Muscle Satellite Cultured Cells	--
17	chr14:68973800-68984600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr14:68974000-68976800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr14:68974200-68977000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:68974200-68977200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr14:68974200-68977400	Enhancers	Primary T cells fromperipheralblood	blood
22	chr14:68974200-68979800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr14:68974400-68977000	Weak transcription	Cortex derived primary cultured neurospheres	brain
24	chr14:68974400-68977000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr14:68974800-68977200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr14:68974800-68984600	Weak transcription	Brain Inferior Temporal Lobe	brain
27	chr14:68974800-68984800	Weak transcription	Brain Cingulate Gyrus	brain
28	chr14:68975000-68979200	Weak transcription	Small Intestine	intestine
29	chr14:68975200-68978400	Weak transcription	Primary B cells from cord blood	blood
30	chr14:68975200-68978600	Weak transcription	GM12878-XiMat	blood
31	chr14:68975200-68980000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr14:68975400-68978400	Weak transcription	Sigmoid Colon	Sigmoid Colon
33	chr14:68975400-68979200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr14:68975400-68979200	Weak transcription	Spleen	Spleen
35	chr14:68975400-68979400	Weak transcription	Thymus	Thymus
36	chr14:68975400-68981600	Enhancers	Fetal Stomach	stomach
37	chr14:68975600-68977800	Enhancers	HSMMtube	muscle
38	chr14:68975600-68979600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
39	chr14:68975600-68979600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr14:68975600-68979800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
41	chr14:68975600-68980200	Enhancers	Ovary	ovary
42	chr14:68975600-68980800	Enhancers	Esophagus	oesophagus
43	chr14:68975800-68977000	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr14:68975800-68977400	Enhancers	HepG2	liver
45	chr14:68975800-68977800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr14:68975800-68978000	Enhancers	Placenta	Placenta
47	chr14:68975800-68979200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr14:68975800-68979200	Weak transcription	Primary T helper cells fromperipheralblood	blood
49	chr14:68975800-68980200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr14:68975800-68980200	Enhancers	Skeletal Muscle Male	skeletal muscle

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