Variant report

Variant	rs3208229
Chromosome Location	chr14:81941413-81941414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:81684558..81688259-chr14:81939063..81942613,5	MCF-7	breast:
2	chr14:81939814..81941759-chr14:81943334..81944844,2	K562	blood:
3	chr14:81941059..81943743-chr14:81944247..81946507,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000165417	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12887741	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs12893863	0.96[CEU][hapmap];0.96[CHB][hapmap];0.96[JPT][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1885598	0.96[CEU][hapmap];0.90[CHB][hapmap];0.95[JPT][hapmap];0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2236179	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7144408	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.83[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	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

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:81926200-81942400	Weak transcription	Spleen	Spleen
2	chr14:81930800-81942400	Weak transcription	Lung	lung
3	chr14:81931400-81941600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr14:81931400-81941600	Weak transcription	Fetal Kidney	kidney
5	chr14:81931400-81941600	Weak transcription	NH-A	brain
6	chr14:81931400-81941800	Weak transcription	Colonic Mucosa	Colon
7	chr14:81931400-81941800	Weak transcription	HUVEC	blood vessel
8	chr14:81931400-81942000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr14:81931400-81942000	Weak transcription	Colon Smooth Muscle	Colon
10	chr14:81931400-81942000	Weak transcription	HMEC	breast
11	chr14:81931400-81942200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr14:81931400-81942200	Weak transcription	Brain Cingulate Gyrus	brain
13	chr14:81931400-81942400	Weak transcription	H1 Cell Line	embryonic stem cell
14	chr14:81931400-81942400	Weak transcription	Brain Angular Gyrus	brain
15	chr14:81931400-81942400	Weak transcription	Brain Hippocampus Middle	brain
16	chr14:81931400-81942400	Weak transcription	Right Ventricle	heart
17	chr14:81931400-81942400	Weak transcription	A549	lung
18	chr14:81931400-81942600	Weak transcription	Brain Germinal Matrix	brain
19	chr14:81931400-81942800	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr14:81931400-81943000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
21	chr14:81931400-81943000	Weak transcription	Fetal Stomach	stomach
22	chr14:81931400-81943000	Weak transcription	Rectal Smooth Muscle	rectum
23	chr14:81931400-81943200	Weak transcription	Aorta	Aorta
24	chr14:81931400-81943200	Weak transcription	Brain Substantia Nigra	brain
25	chr14:81931400-81943200	Weak transcription	Fetal Intestine Small	intestine
26	chr14:81931400-81943200	Weak transcription	Ovary	ovary
27	chr14:81931400-81943200	Weak transcription	Hela-S3	cervix
28	chr14:81931400-81944800	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr14:81931400-81945000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr14:81931400-81945200	Weak transcription	HSMMtube	muscle
31	chr14:81931400-81945400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr14:81931400-81945600	Weak transcription	Psoas Muscle	Psoas
33	chr14:81931400-81955000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr14:81931600-81942400	Weak transcription	Stomach Smooth Muscle	stomach
35	chr14:81931600-81942400	Weak transcription	HepG2	liver
36	chr14:81931600-81942600	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr14:81931600-81942600	Weak transcription	Thymus	Thymus
38	chr14:81931800-81941800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr14:81932000-81942400	Weak transcription	Fetal Muscle Leg	muscle
40	chr14:81932000-81942400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr14:81932200-81942600	Weak transcription	Brain Anterior Caudate	brain
42	chr14:81932200-81943200	Weak transcription	Esophagus	oesophagus
43	chr14:81932400-81941800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr14:81932400-81942200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr14:81935400-81944800	Weak transcription	Fetal Brain Female	brain
46	chr14:81935600-81942400	Weak transcription	Small Intestine	intestine
47	chr14:81936600-81943200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
48	chr14:81937000-81942400	Weak transcription	Gastric	stomach
49	chr14:81937000-81943200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr14:81937600-81944000	Weak transcription	Fetal Brain Male	brain

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