Variant report

Variant	rs12889721
Chromosome Location	chr14:104034863-104034864
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:104026574..104032100-chr14:104033737..104038565,9	MCF-7	breast:
2	chr14:104033774..104035610-chr14:104074233..104076261,2	MCF-7	breast:
3	chr14:104027061..104029959-chr14:104033088..104037337,3	K562	blood:

Variant related genes	Relation type
ENSG00000166170	Chromatin interaction
ENSG00000256053	Chromatin interaction
ENSG00000126214	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10431750	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12887734	0.85[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12889403	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12890820	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12894729	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2274267	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2296482	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2403196	0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2403197	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2896487	0.84[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs34026011	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34186780	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34896432	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35026580	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35229468	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35496194	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs35498576	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4906335	0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4906336	0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4906337	0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4906338	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55751606	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58033365	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs67899457	0.80[AMR][1000 genomes]
rs7140568	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs71417868	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7148456	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8017628	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8017993	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3332028	chr14:103581471-104328811	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
2	nsv832883	chr14:103927687-104120953	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv902297	chr14:103956182-104061646	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	nsv902298	chr14:103959289-104061646	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv902299	chr14:103967504-104061646	Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv902300	chr14:103967504-104205811	Active TSS Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
7	nsv902304	chr14:103979953-104061646	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	nsv902305	chr14:103979953-104073551	Strong transcription Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
9	nsv566022	chr14:104007555-104092789	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 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	chr14:104030000-104045000	Weak transcription	Aorta	Aorta
2	chr14:104030200-104040600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr14:104030200-104044800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:104030400-104040600	Weak transcription	Lung	lung
5	chr14:104030600-104035200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr14:104030600-104035200	Weak transcription	Placenta	Placenta
7	chr14:104030600-104035400	Weak transcription	Fetal Kidney	kidney
8	chr14:104030600-104037200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr14:104030600-104039200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr14:104030600-104039600	Weak transcription	Primary neutrophils fromperipheralblood	blood
11	chr14:104030600-104040600	Weak transcription	HSMMtube	muscle
12	chr14:104030600-104040800	Weak transcription	Right Ventricle	heart
13	chr14:104030600-104042400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr14:104030600-104042800	Weak transcription	Fetal Heart	heart
15	chr14:104030800-104035200	Weak transcription	H1 Cell Line	embryonic stem cell
16	chr14:104030800-104035200	Weak transcription	Right Atrium	heart
17	chr14:104030800-104035400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr14:104030800-104035400	Weak transcription	A549	lung
19	chr14:104030800-104037200	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:104030800-104037200	Weak transcription	NHDF-Ad	bronchial
21	chr14:104030800-104037400	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr14:104030800-104037800	Weak transcription	Fetal Muscle Trunk	muscle
23	chr14:104030800-104037800	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr14:104030800-104038000	Weak transcription	Osteobl	bone
25	chr14:104030800-104038400	Weak transcription	Hela-S3	cervix
26	chr14:104030800-104038600	Weak transcription	HUES48 Cell Line	embryonic stem cell
27	chr14:104030800-104038600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr14:104030800-104038600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr14:104030800-104038600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr14:104030800-104038600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr14:104030800-104038800	Weak transcription	H9 Cell Line	embryonic stem cell
32	chr14:104030800-104038800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr14:104030800-104038800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr14:104030800-104038800	Weak transcription	Fetal Intestine Large	intestine
35	chr14:104030800-104039000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
36	chr14:104030800-104039400	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr14:104030800-104039400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr14:104030800-104039600	Weak transcription	Duodenum Mucosa	Duodenum
39	chr14:104030800-104039800	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr14:104030800-104040000	Weak transcription	NH-A	brain
41	chr14:104030800-104040200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr14:104030800-104040200	Weak transcription	HSMM	muscle
43	chr14:104030800-104040400	Weak transcription	Colonic Mucosa	Colon
44	chr14:104030800-104040400	Weak transcription	Rectal Smooth Muscle	rectum
45	chr14:104030800-104040600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
46	chr14:104030800-104040600	Weak transcription	Brain Angular Gyrus	brain
47	chr14:104030800-104040600	Weak transcription	Colon Smooth Muscle	Colon
48	chr14:104030800-104040600	Weak transcription	Fetal Thymus	thymus
49	chr14:104030800-104040600	Weak transcription	Psoas Muscle	Psoas
50	chr14:104030800-104040600	Weak transcription	Spleen	Spleen

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