Variant report

Variant	rs12889381
Chromosome Location	chr14:31480810-31480811
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31480033..31485916-chr14:31491801..31497532,12	MCF-7	breast:
2	chr14:31465641..31468716-chr14:31477772..31480895,4	K562	blood:
3	chr14:31479864..31481964-chr14:31493748..31495514,3	MCF-7	breast:
4	chr14:31471843..31474502-chr14:31478571..31481121,2	K562	blood:

Variant related genes	Relation type
ENSG00000100478	Chromatin interaction
ENSG00000196792	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs10140248	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142411	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11156654	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624128	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11624837	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs12881165	1.00[ASN][1000 genomes]
rs12881677	1.00[ASN][1000 genomes]
rs12883240	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12885160	1.00[ASN][1000 genomes]
rs12886365	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12886419	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12891080	0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12892791	1.00[ASN][1000 genomes]
rs12894032	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12895940	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12896432	0.80[AMR][1000 genomes]
rs12897351	0.90[AFR][1000 genomes];0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12898167	1.00[ASN][1000 genomes]
rs28572507	0.82[AMR][1000 genomes]
rs34284209	0.82[AMR][1000 genomes]
rs34399663	1.00[ASN][1000 genomes]
rs34869270	1.00[ASN][1000 genomes]
rs35941434	1.00[ASN][1000 genomes]
rs61976839	1.00[ASN][1000 genomes]
rs61976841	1.00[ASN][1000 genomes]
rs6571381	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67489064	1.00[ASN][1000 genomes]
rs7141291	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs71427204	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs7143908	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7145438	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7146946	0.91[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7151175	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154605	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs8015705	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1035937	chr14:31447842-31579660	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
4	nsv542018	chr14:31447842-31579660	Weak transcription Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv1048736	chr14:31447842-31624912	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
6	nsv1049063	chr14:31473521-31622741	Weak transcription Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31442400-31494400	Weak transcription	Gastric	stomach
2	chr14:31443400-31493800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr14:31458600-31494000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr14:31461200-31492400	Weak transcription	Fetal Kidney	kidney
5	chr14:31461200-31494400	Weak transcription	Small Intestine	intestine
6	chr14:31461400-31487400	Weak transcription	Right Ventricle	heart
7	chr14:31464200-31493600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr14:31464400-31492400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:31465400-31492400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
10	chr14:31465600-31487400	Weak transcription	Spleen	Spleen
11	chr14:31466400-31490000	Weak transcription	NHDF-Ad	bronchial
12	chr14:31467800-31481800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
13	chr14:31467800-31484400	Weak transcription	Stomach Smooth Muscle	stomach
14	chr14:31467800-31485000	Weak transcription	Hela-S3	cervix
15	chr14:31467800-31487400	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:31467800-31487400	Weak transcription	Thymus	Thymus
17	chr14:31467800-31492000	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr14:31467800-31493000	Weak transcription	HSMMtube	muscle
19	chr14:31467800-31493400	Weak transcription	Brain Angular Gyrus	brain
20	chr14:31468000-31481800	Weak transcription	Lung	lung
21	chr14:31468000-31487600	Weak transcription	Brain Hippocampus Middle	brain
22	chr14:31468000-31489200	Weak transcription	NHLF	lung
23	chr14:31468000-31490200	Weak transcription	NH-A	brain
24	chr14:31468000-31493000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr14:31468200-31487600	Weak transcription	Primary T helper cells PMA-I stimulated	--
26	chr14:31468400-31493200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr14:31468400-31493800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr14:31468600-31482200	Weak transcription	Placenta	Placenta
29	chr14:31468600-31487400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr14:31468600-31487400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr14:31468600-31487400	Weak transcription	Fetal Thymus	thymus
32	chr14:31468600-31490200	Weak transcription	Primary hematopoietic stem cells	blood
33	chr14:31468800-31493200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
34	chr14:31469000-31489800	Weak transcription	Muscle Satellite Cultured Cells	--
35	chr14:31469200-31486800	Weak transcription	Primary B cells from peripheral blood	blood
36	chr14:31469200-31492000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr14:31469800-31492600	Weak transcription	Fetal Brain Male	brain
38	chr14:31470000-31493200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr14:31470400-31483600	Strong transcription	Fetal Stomach	stomach
40	chr14:31470400-31484400	Weak transcription	Stomach Mucosa	stomach
41	chr14:31470400-31492000	Weak transcription	Rectal Smooth Muscle	rectum
42	chr14:31470400-31493200	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr14:31470600-31481000	Weak transcription	Primary B cells from cord blood	blood
44	chr14:31470600-31481600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr14:31470600-31489200	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr14:31470600-31490200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr14:31470600-31493200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr14:31470800-31485000	Weak transcription	Right Atrium	heart
49	chr14:31471000-31487400	Weak transcription	H9 Cell Line	embryonic stem cell
50	chr14:31472000-31487400	Weak transcription	Brain Anterior Caudate	brain

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