Variant report

Variant	rs1997562
Chromosome Location	chr14:78046523-78046524
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	chr14:78045818..78047346-chr14:78052182..78053803,2	MCF-7	breast:

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs10135955	0.89[CHB][hapmap];0.81[JPT][hapmap]
rs10147810	0.84[CHB][hapmap]
rs10149237	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10151331	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10151712	0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10400797	1.00[ASN][1000 genomes]
rs10873307	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11159280	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs11623225	0.90[AFR][1000 genomes]
rs12147112	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12148048	0.98[ASN][1000 genomes]
rs12588462	1.00[CHB][hapmap];0.85[JPT][hapmap]
rs12589986	0.82[ASN][1000 genomes]
rs12884431	0.80[ASN][1000 genomes]
rs12885003	0.96[ASN][1000 genomes]
rs17106022	0.83[ASN][1000 genomes]
rs1997561	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes]
rs2299917	0.83[ASN][1000 genomes]
rs2299919	0.83[ASN][1000 genomes]
rs2299920	0.95[CHB][hapmap];0.81[JPT][hapmap];1.00[ASN][1000 genomes]
rs8018813	0.81[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832835	chr14:77906706-78095207	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv1053810	chr14:77987871-78148320	Genic enhancers Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv1051554	chr14:78004196-78122980	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	esv1794863	chr14:78024926-78048715	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 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	chr14:77970200-78047200	Weak transcription	Fetal Heart	heart
2	chr14:77987800-78060000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:78009800-78050800	Weak transcription	Psoas Muscle	Psoas
4	chr14:78013200-78066200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:78016400-78061000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
6	chr14:78018800-78047000	Weak transcription	Placenta	Placenta
7	chr14:78021600-78047000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr14:78021800-78061000	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr14:78021800-78068400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:78021800-78071600	Weak transcription	Colon Smooth Muscle	Colon
11	chr14:78022000-78060800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr14:78022400-78047200	Weak transcription	Brain Germinal Matrix	brain
13	chr14:78022400-78049000	Weak transcription	Right Ventricle	heart
14	chr14:78022400-78055000	Weak transcription	Colonic Mucosa	Colon
15	chr14:78024200-78046800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:78024200-78047200	Weak transcription	Rectal Smooth Muscle	rectum
17	chr14:78028600-78047200	Weak transcription	Pancreatic Islets	Pancreatic Islet
18	chr14:78029800-78047600	Weak transcription	K562	blood
19	chr14:78030200-78056800	Weak transcription	HMEC	breast
20	chr14:78036000-78046800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr14:78037600-78049000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr14:78040400-78051800	Weak transcription	HepG2	liver
23	chr14:78040600-78049000	Weak transcription	Ovary	ovary
24	chr14:78040800-78047000	Weak transcription	Stomach Mucosa	stomach
25	chr14:78041000-78047000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr14:78041600-78051000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr14:78042000-78047000	Weak transcription	Brain Hippocampus Middle	brain
28	chr14:78042400-78046600	Weak transcription	Sigmoid Colon	Sigmoid Colon
29	chr14:78042400-78047000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr14:78042400-78047000	Weak transcription	Fetal Stomach	stomach
31	chr14:78042400-78047200	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr14:78042400-78049000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr14:78042400-78049000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:78042400-78049000	Weak transcription	Gastric	stomach
35	chr14:78042400-78049200	Weak transcription	Fetal Muscle Trunk	muscle
36	chr14:78042400-78051200	Weak transcription	Pancreas	Pancrea
37	chr14:78042400-78059000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:78042400-78060800	Weak transcription	Aorta	Aorta
39	chr14:78042400-78066600	Weak transcription	Fetal Brain Female	brain
40	chr14:78042600-78046600	Weak transcription	Small Intestine	intestine
41	chr14:78042600-78047000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr14:78042600-78061800	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr14:78042800-78047000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr14:78043000-78059800	Weak transcription	A549	lung
45	chr14:78043200-78047000	Weak transcription	Fetal Intestine Small	intestine
46	chr14:78043200-78047000	Weak transcription	Fetal Muscle Leg	muscle
47	chr14:78043200-78047000	Weak transcription	Fetal Thymus	thymus
48	chr14:78043200-78047000	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr14:78043200-78047000	Weak transcription	HSMMtube	muscle
50	chr14:78043200-78047200	Weak transcription	Dnd41	blood

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