Variant report

Variant	rs72717385
Chromosome Location	chr14:67787320-67787321
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:67778445..67780100-chr14:67786905..67788525,2	MCF-7	breast:
2	chr14:67787070..67789191-chr14:67791313..67793931,3	K562	blood:

Extended variants
information (count: 56 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs11539356	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1813	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3759756	0.90[ASN][1000 genomes]
rs41285536	0.90[EUR][1000 genomes]
rs45479091	1.00[EUR][1000 genomes]
rs45561936	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57259066	0.97[ASN][1000 genomes]
rs58979599	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60541082	0.97[ASN][1000 genomes]
rs72715361	0.90[EUR][1000 genomes]
rs72715389	0.90[EUR][1000 genomes]
rs72717319	0.90[EUR][1000 genomes]
rs72717347	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717359	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717362	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717366	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717367	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717368	0.83[ASN][1000 genomes]
rs72717369	0.83[ASN][1000 genomes]
rs72717370	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717372	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717375	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717376	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717379	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717381	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717382	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717383	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717386	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717387	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717389	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717391	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717392	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72717393	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717397	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717398	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72717399	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72717401	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs72719106	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719108	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719110	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72719111	1.00[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72719115	1.00[EUR][1000 genomes]
rs72719116	1.00[EUR][1000 genomes]
rs72719118	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72719122	1.00[EUR][1000 genomes]
rs72719125	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72719127	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72719128	0.94[AFR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72719133	0.87[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2751285	chr14:67364747-67886781	Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
2	nsv1045518	chr14:67529049-67959582	Strong transcription Bivalent Enhancer Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers 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	42 gene(s)	inside rSNPs	diseases
3	nsv832821	chr14:67590418-67828169	Flanking Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv456331	chr14:67732861-68103780	Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
5	nsv564961	chr14:67732861-68103780	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv470651	chr14:67732861-68113293	Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	nsv902065	chr14:67739285-67819602	Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:67721400-67798400	Weak transcription	Hela-S3	cervix
2	chr14:67732400-67810000	Weak transcription	Gastric	stomach
3	chr14:67735400-67798400	Weak transcription	K562	blood
4	chr14:67735600-67810000	Weak transcription	Aorta	Aorta
5	chr14:67737200-67801400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr14:67740000-67790600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr14:67750000-67801400	Weak transcription	Fetal Heart	heart
8	chr14:67753600-67799200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr14:67753800-67791200	Weak transcription	Thymus	Thymus
10	chr14:67755800-67788000	Weak transcription	NHLF	lung
11	chr14:67756400-67799000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr14:67758400-67801400	Weak transcription	Small Intestine	intestine
13	chr14:67759800-67799800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr14:67762000-67787800	Weak transcription	Psoas Muscle	Psoas
15	chr14:67762600-67793400	Strong transcription	HSMM	muscle
16	chr14:67762600-67799000	Weak transcription	Fetal Brain Female	brain
17	chr14:67762600-67825200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr14:67763000-67790000	Weak transcription	Brain Cingulate Gyrus	brain
19	chr14:67764400-67825200	Weak transcription	Stomach Mucosa	stomach
20	chr14:67766800-67787800	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr14:67767000-67787800	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:67767000-67790600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr14:67767200-67797600	Weak transcription	Fetal Brain Male	brain
24	chr14:67767200-67799000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr14:67767200-67804200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr14:67767200-67804600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr14:67767200-67825200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr14:67768400-67787800	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr14:67768400-67790000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr14:67768600-67825800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr14:67768800-67790600	Weak transcription	Colon Smooth Muscle	Colon
32	chr14:67769200-67804800	Weak transcription	Spleen	Spleen
33	chr14:67770200-67797400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr14:67770200-67799400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
35	chr14:67770400-67787800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr14:67770600-67804000	Weak transcription	Right Ventricle	heart
37	chr14:67772200-67787400	Weak transcription	Brain Substantia Nigra	brain
38	chr14:67772200-67787600	Weak transcription	Primary monocytes fromperipheralblood	blood
39	chr14:67772400-67790200	Weak transcription	Lung	lung
40	chr14:67772600-67787800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr14:67773400-67790000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr14:67773400-67790000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
43	chr14:67775000-67798400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
44	chr14:67776400-67794800	Strong transcription	Placenta	Placenta
45	chr14:67776800-67794600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr14:67777600-67794600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr14:67777800-67801600	Weak transcription	Esophagus	oesophagus
48	chr14:67778000-67790000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr14:67778000-67791200	Weak transcription	Pancreas	Pancrea
50	chr14:67778400-67793400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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