Variant report

Variant	rs7247309
Chromosome Location	chr19:19439631-19439632
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:19301973..19304677-chr19:19438617..19440133,2	MCF-7	breast:
2	chr19:19435098..19437223-chr19:19438323..19441440,3	K562	blood:
3	chr19:19436638..19438572-chr19:19438797..19440377,2	MCF-7	breast:
4	chr19:19438751..19440624-chr19:19603329..19605522,2	K562	blood:
5	chr19:19429265..19433955-chr19:19435114..19441517,10	K562	blood:
6	chr19:19433505..19435144-chr19:19437527..19440100,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105705	Chromatin interaction
ENSG00000254901	Chromatin interaction
ENSG00000064490	Chromatin interaction
ENSG00000129933	Chromatin interaction
ENSG00000064489	Chromatin interaction
ENSG00000213999	Chromatin interaction

Extended variants
information (count: 100 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:97)

rs_ID	r²[population]
rs1009136	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1010207	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10402661	0.89[ASN][1000 genomes]
rs10403731	0.87[ASN][1000 genomes]
rs10407952	0.81[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10409234	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10418051	0.98[ASN][1000 genomes]
rs10419245	0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10419672	0.92[ASN][1000 genomes]
rs10421505	0.94[ASN][1000 genomes]
rs10426780	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11085259	0.89[ASN][1000 genomes]
rs11085261	0.87[ASN][1000 genomes]
rs11666553	0.89[ASN][1000 genomes]
rs12459676	0.87[ASN][1000 genomes]
rs12460764	0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12976025	0.86[ASN][1000 genomes]
rs12977937	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12982276	0.94[ASN][1000 genomes]
rs12983137	0.89[ASN][1000 genomes]
rs12985655	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13964	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs15622	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1859287	0.89[ASN][1000 genomes]
rs2017964	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2023882	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2023883	0.89[ASN][1000 genomes]
rs2074089	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2074090	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2074091	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2074296	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2074298	0.89[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2074299	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2074300	0.85[ASN][1000 genomes]
rs2074301	0.86[ASN][1000 genomes]
rs2074303	0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2074550	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2074551	0.89[ASN][1000 genomes]
rs2269873	0.80[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2285627	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2285628	0.87[ASN][1000 genomes]
rs2285859	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2301668	0.89[ASN][1000 genomes]
rs2301669	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2301671	0.87[ASN][1000 genomes]
rs2301784	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2301786	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2315022	0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2315025	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2315279	0.86[AMR][1000 genomes]
rs2315281	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs2905421	0.95[AFR][1000 genomes];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2905423	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2905424	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2905425	0.85[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2905431	0.82[AMR][1000 genomes]
rs2965175	0.83[AMR][1000 genomes]
rs2965180	0.81[AMR][1000 genomes]
rs2965191	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2965193	0.96[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2965198	0.89[AFR][1000 genomes];0.93[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2965199	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34538000	0.80[AMR][1000 genomes]
rs3934667	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4808193	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4808194	0.91[ASN][1000 genomes]
rs4808937	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4808938	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4808939	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4808940	0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808941	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4808942	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs62135552	0.95[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6511026	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6511028	0.90[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6511030	0.87[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs6511032	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67720221	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7246748	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7247263	0.81[AFR][1000 genomes]
rs7250368	0.89[ASN][1000 genomes]
rs7254230	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7254748	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7254927	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7259434	0.86[ASN][1000 genomes]
rs735273	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs757000	0.89[ASN][1000 genomes]
rs757001	0.88[ASN][1000 genomes]
rs769267	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8101938	0.81[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8103197	0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8103496	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8105094	0.84[ASN][1000 genomes]
rs8105984	0.84[ASN][1000 genomes]
rs8108647	0.97[ASN][1000 genomes]
rs9304960	0.87[ASN][1000 genomes]
rs968525	0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19432600-19445400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:19432800-19445400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr19:19432800-19447400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
4	chr19:19433200-19452800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr19:19433400-19440200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr19:19433400-19469800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr19:19433400-19470600	Strong transcription	Fetal Stomach	stomach
8	chr19:19433600-19448800	Weak transcription	Stomach Mucosa	stomach
9	chr19:19433800-19468400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:19433800-19469800	Strong transcription	Fetal Intestine Large	intestine
11	chr19:19433800-19470400	Strong transcription	Placenta	Placenta
12	chr19:19434000-19445600	Strong transcription	Fetal Intestine Small	intestine
13	chr19:19434200-19469000	Strong transcription	Fetal Thymus	thymus
14	chr19:19434200-19469800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr19:19434200-19469800	Strong transcription	Cortex derived primary cultured neurospheres	brain
16	chr19:19434400-19443600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr19:19434400-19449800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
18	chr19:19434400-19450600	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr19:19434600-19439800	Strong transcription	Duodenum Mucosa	Duodenum
20	chr19:19434600-19445400	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr19:19434600-19448200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr19:19434600-19466000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:19434800-19448000	Weak transcription	Psoas Muscle	Psoas
24	chr19:19434800-19470600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr19:19435000-19471000	Strong transcription	Fetal Brain Female	brain
26	chr19:19435200-19439800	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr19:19435200-19448200	Strong transcription	Osteobl	bone
28	chr19:19435200-19449200	Weak transcription	Fetal Brain Male	brain
29	chr19:19435400-19439800	Weak transcription	Aorta	Aorta
30	chr19:19435400-19440000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr19:19435400-19440000	Weak transcription	Right Atrium	heart
32	chr19:19435400-19440000	Weak transcription	HSMMtube	muscle
33	chr19:19435400-19444200	Strong transcription	Fetal Muscle Trunk	muscle
34	chr19:19435400-19444400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr19:19435400-19453400	Strong transcription	Stomach Smooth Muscle	stomach
36	chr19:19435600-19439800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr19:19435600-19439800	Weak transcription	Brain Angular Gyrus	brain
38	chr19:19435600-19439800	Weak transcription	Esophagus	oesophagus
39	chr19:19435600-19439800	Weak transcription	Right Ventricle	heart
40	chr19:19435600-19440000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr19:19435600-19440000	Weak transcription	Pancreas	Pancrea
42	chr19:19435600-19444000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
43	chr19:19435600-19455400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
44	chr19:19435600-19468600	Strong transcription	Dnd41	blood
45	chr19:19435600-19470400	Strong transcription	Brain Germinal Matrix	brain
46	chr19:19435600-19477600	Weak transcription	Fetal Heart	heart
47	chr19:19436000-19439800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr19:19436000-19444200	Strong transcription	Fetal Muscle Leg	muscle
49	chr19:19436000-19447400	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr19:19436000-19460600	Strong transcription	Brain Cingulate Gyrus	brain

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