Variant report

Variant	rs1760919
Chromosome Location	chr14:20820537-20820538
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:20810396..20814723-chr14:20817267..20820679,8	MCF-7	breast:
2	chr14:20818052..20820048-chr14:20820385..20822938,2	K562	blood:
3	chr14:20811759..20814135-chr14:20820161..20822518,2	MCF-7	breast:
4	chr14:20809589..20811753-chr14:20819736..20822429,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000129484	Chromatin interaction
ENSG00000259001	Chromatin interaction

Extended variants
information (count: 29 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs11623831	0.87[EUR][1000 genomes]
rs1713413	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713414	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1713415	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1713430	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs1760912	0.95[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1760918	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1760923	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1889363	0.87[EUR][1000 genomes]
rs1953224	0.93[EUR][1000 genomes]
rs2297617	0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2319190	0.86[AFR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2678682	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2678683	0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs28410239	0.91[AFR][1000 genomes];0.95[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs28436942	0.87[EUR][1000 genomes]
rs3093870	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes];0.94[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3093900	0.83[EUR][1000 genomes]
rs3093907	0.83[EUR][1000 genomes]
rs3093909	0.83[EUR][1000 genomes]
rs6575168	0.87[EUR][1000 genomes]
rs7159947	0.91[AFR][1000 genomes];0.98[EUR][1000 genomes];0.81[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	nsv1043923	chr14:20338742-21336425	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
2	nsv541970	chr14:20338742-21336425	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	203 gene(s)	inside rSNPs	diseases
3	nsv1037160	chr14:20517485-20901811	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
4	nsv541974	chr14:20517485-20901811	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	103 gene(s)	inside rSNPs	diseases
5	esv1806993	chr14:20743269-20841162	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	71 gene(s)	inside rSNPs	diseases
6	nsv534131	chr14:20757405-20886235	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers 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	87 gene(s)	inside rSNPs	diseases
7	esv21015	chr14:20800765-21257878	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	173 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:20812000-20820600	Weak transcription	Spleen	Spleen
2	chr14:20812000-20822600	Weak transcription	Gastric	stomach
3	chr14:20812200-20822600	Weak transcription	Pancreas	Pancrea
4	chr14:20812200-20824000	Weak transcription	Aorta	Aorta
5	chr14:20812200-20825400	Weak transcription	Esophagus	oesophagus
6	chr14:20812400-20824400	Weak transcription	Stomach Mucosa	stomach
7	chr14:20812400-20880200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr14:20812600-20820600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr14:20812600-20820600	Weak transcription	Psoas Muscle	Psoas
10	chr14:20812600-20820600	Weak transcription	Right Ventricle	heart
11	chr14:20812600-20820800	Weak transcription	NHDF-Ad	bronchial
12	chr14:20812600-20822200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
13	chr14:20812600-20824400	Weak transcription	Fetal Heart	heart
14	chr14:20812600-20831800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr14:20812600-20834600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:20812600-20841000	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr14:20812600-20845600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr14:20812800-20820600	Weak transcription	NHLF	lung
19	chr14:20812800-20824000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr14:20813000-20827000	Strong transcription	Fetal Muscle Trunk	muscle
21	chr14:20813000-20827800	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr14:20813000-20827800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
23	chr14:20813000-20830800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr14:20813200-20820800	Weak transcription	Fetal Brain Male	brain
25	chr14:20813200-20821600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr14:20813200-20824400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr14:20813200-20824400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr14:20813200-20825800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
29	chr14:20813200-20825800	Strong transcription	Fetal Stomach	stomach
30	chr14:20813200-20826200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:20813200-20826600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr14:20813200-20826800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:20813200-20827000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr14:20813200-20827000	Strong transcription	Skeletal Muscle Male	skeletal muscle
35	chr14:20813200-20827400	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr14:20813200-20827600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr14:20813200-20827600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr14:20813200-20827800	Strong transcription	Fetal Intestine Large	intestine
39	chr14:20813200-20827800	Strong transcription	Placenta	Placenta
40	chr14:20813200-20828000	Strong transcription	HUES6 Cell Line	embryonic stem cell
41	chr14:20813200-20828400	Strong transcription	HUES48 Cell Line	embryonic stem cell
42	chr14:20813200-20829400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
43	chr14:20813200-20831600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr14:20813200-20869200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr14:20813400-20820600	Strong transcription	A549	lung
46	chr14:20813400-20826000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:20813400-20826400	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr14:20813400-20826600	Strong transcription	Fetal Muscle Leg	muscle
49	chr14:20813400-20826600	Strong transcription	Left Ventricle	heart
50	chr14:20813400-20827200	Strong transcription	Brain Anterior Caudate	brain

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