Variant report

Variant	rs12880208
Chromosome Location	chr14:31651500-31651501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31642217..31644395-chr14:31650577..31652161,2	MCF-7	breast:
2	chr14:31646873..31649648-chr14:31650062..31652534,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092148	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10130804	0.80[EUR][1000 genomes]
rs10134821	0.88[EUR][1000 genomes]
rs10136065	0.85[AFR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136918	0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10142413	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146042	0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10146272	0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10147747	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12888959	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs28377925	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28806860	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34666986	1.00[ASN][1000 genomes]
rs34807591	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34975239	0.85[AFR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61976859	1.00[ASN][1000 genomes]
rs61978760	0.81[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61978769	0.92[ASN][1000 genomes]
rs61995486	1.00[ASN][1000 genomes]
rs6571392	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7144107	0.87[EUR][1000 genomes]
rs7147179	0.80[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7154556	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7159848	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7161315	0.90[EUR][1000 genomes]
rs8004286	0.81[EUR][1000 genomes]
rs8005747	0.84[EUR][1000 genomes]
rs8022272	0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901587	chr14:31501505-31752664	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	nsv832763	chr14:31501597-31680021	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv1050054	chr14:31501703-31733642	Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv1043033	chr14:31538984-31686696	Weak transcription Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
5	esv2830427	chr14:31639110-32000034	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 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	chr14:31591800-31656400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr14:31603800-31653400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr14:31629800-31664800	Weak transcription	Right Atrium	heart
4	chr14:31632800-31658000	Weak transcription	Small Intestine	intestine
5	chr14:31635800-31663400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr14:31637200-31658000	Weak transcription	Right Ventricle	heart
7	chr14:31637200-31675000	Weak transcription	Gastric	stomach
8	chr14:31637800-31662200	Strong transcription	Fetal Intestine Small	intestine
9	chr14:31638800-31672000	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr14:31639600-31663400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr14:31640800-31674000	Weak transcription	Fetal Brain Male	brain
12	chr14:31643000-31664800	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr14:31643000-31664800	Weak transcription	Psoas Muscle	Psoas
14	chr14:31643200-31662200	Weak transcription	Fetal Kidney	kidney
15	chr14:31643200-31663800	Weak transcription	Rectal Smooth Muscle	rectum
16	chr14:31643200-31664000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
17	chr14:31643200-31664000	Weak transcription	Fetal Heart	heart
18	chr14:31643200-31675000	Weak transcription	Esophagus	oesophagus
19	chr14:31643400-31675000	Weak transcription	Spleen	Spleen
20	chr14:31643600-31659800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:31644400-31663200	Weak transcription	NH-A	brain
22	chr14:31644600-31658000	Weak transcription	Hela-S3	cervix
23	chr14:31644600-31659200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr14:31644800-31653000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr14:31644800-31653400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr14:31644800-31664200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:31644800-31664400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr14:31644800-31675000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr14:31644800-31675000	Weak transcription	Pancreas	Pancrea
30	chr14:31645000-31654600	Weak transcription	Lung	lung
31	chr14:31645000-31659000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr14:31645000-31659800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
33	chr14:31645000-31663400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr14:31645600-31653400	Weak transcription	Fetal Brain Female	brain
35	chr14:31645600-31659200	Weak transcription	HSMM	muscle
36	chr14:31645600-31659800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr14:31645600-31675000	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr14:31645800-31659000	Weak transcription	NHLF	lung
39	chr14:31646600-31657600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
40	chr14:31646600-31674400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr14:31647400-31654600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr14:31647400-31654600	Weak transcription	Brain Angular Gyrus	brain
43	chr14:31647400-31655200	Weak transcription	Primary B cells from cord blood	blood
44	chr14:31647400-31659000	Weak transcription	NHEK	skin
45	chr14:31647400-31659200	Weak transcription	Colon Smooth Muscle	Colon
46	chr14:31647400-31664000	Weak transcription	Brain Cingulate Gyrus	brain
47	chr14:31647400-31664200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
48	chr14:31647400-31664400	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:31647400-31667200	Weak transcription	Brain Substantia Nigra	brain
50	chr14:31647600-31654600	Weak transcription	Duodenum Mucosa	Duodenum

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