Variant report

Variant	rs6803219
Chromosome Location	chr3:178925022-178925023
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	chr3:178865043..178866778-chr3:178924785..178927041,2	MCF-7	breast:
2	chr3:178865100..178867630-chr3:178921872..178925209,3	K562	blood:

Variant related genes	Relation type
ENSG00000229102	Chromatin interaction
ENSG00000121879	Chromatin interaction

Extended variants
information (count: 120 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:116)

rs_ID	r²[population]
rs1059691	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10936992	0.86[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10936994	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11706842	0.88[ASN][1000 genomes]
rs11708869	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11918324	0.90[ASN][1000 genomes]
rs11918587	0.88[ASN][1000 genomes]
rs11919383	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11922631	0.98[ASN][1000 genomes]
rs11924547	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11925655	0.88[ASN][1000 genomes]
rs12488074	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1568205	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17849071	0.90[ASN][1000 genomes]
rs1850504	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs1970901	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1976765	0.88[ASN][1000 genomes]
rs2865082	0.90[ASN][1000 genomes]
rs3729674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3729676	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3729682	0.90[ASN][1000 genomes]
rs3729694	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3960984	0.89[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs3975510	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3975513	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3976507	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4080957	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4855093	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4855095	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs55685804	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs55933053	0.88[ASN][1000 genomes]
rs55961756	0.90[ASN][1000 genomes]
rs56095736	0.98[ASN][1000 genomes]
rs56143971	0.90[ASN][1000 genomes]
rs56372555	0.88[ASN][1000 genomes]
rs56378415	0.83[ASN][1000 genomes]
rs59340081	0.88[ASN][1000 genomes]
rs59408989	0.93[ASN][1000 genomes]
rs59922883	0.88[ASN][1000 genomes]
rs61796482	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs61796483	0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62408837	0.87[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6443619	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6443624	0.89[AFR][1000 genomes];0.81[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs6443625	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6443626	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6443627	0.88[ASN][1000 genomes]
rs6443628	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6443629	0.95[ASN][1000 genomes]
rs67562832	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67609137	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6765953	0.90[ASN][1000 genomes]
rs6767284	0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6769154	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6769162	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6769508	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6770267	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6771313	0.98[ASN][1000 genomes]
rs6774158	0.86[ASN][1000 genomes]
rs6777203	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6782557	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6786114	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6791153	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs67920954	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6792189	0.88[ASN][1000 genomes]
rs6794252	0.84[AFR][1000 genomes];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6797304	0.88[ASN][1000 genomes]
rs6798817	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6799756	0.88[ASN][1000 genomes]
rs6803076	0.95[ASN][1000 genomes]
rs6806555	0.88[ASN][1000 genomes]
rs6806917	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6810246	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73051974	0.83[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73187264	0.90[ASN][1000 genomes]
rs73187276	0.90[ASN][1000 genomes]
rs7372645	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7612533	0.88[ASN][1000 genomes]
rs7614305	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7614418	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7615076	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7621329	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7621436	0.96[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7623154	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7624090	0.90[ASN][1000 genomes]
rs7627273	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7628855	0.88[ASN][1000 genomes]
rs7635669	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7636454	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7638323	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7638649	0.88[ASN][1000 genomes]
rs7641889	0.88[ASN][1000 genomes]
rs7641983	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7644648	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7646409	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7648857	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7650809	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7651265	0.88[ASN][1000 genomes]
rs938752	0.88[ASN][1000 genomes]
rs9631497	0.83[ASN][1000 genomes]
rs9813190	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9819762	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9829903	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9831234	0.94[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9833438	0.88[AFR][1000 genomes];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9838117	0.81[EUR][1000 genomes]
rs9838411	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9839519	0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9841051	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs9844270	0.98[ASN][1000 genomes]
rs9844482	0.83[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs9850621	0.88[ASN][1000 genomes]
rs9862294	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs9866361	0.99[AFR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9877812	0.88[ASN][1000 genomes]
rs9881887	0.97[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[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	nsv998253	chr3:178622707-179196274	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv536814	chr3:178622707-179196274	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats 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	52 gene(s)	inside rSNPs	diseases
3	esv3354111	chr3:178833305-179156908	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	nsv878038	chr3:178924867-178962897	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:178899200-178951800	Weak transcription	K562	blood
2	chr3:178900000-178929800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr3:178906400-178962400	Weak transcription	HepG2	liver
4	chr3:178909000-178931400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:178909000-178947000	Weak transcription	Ovary	ovary
6	chr3:178909400-178925400	Weak transcription	Aorta	Aorta
7	chr3:178911200-178953400	Weak transcription	Gastric	stomach
8	chr3:178912400-178978600	Weak transcription	Right Ventricle	heart
9	chr3:178912600-178947800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr3:178913000-178925400	Weak transcription	Pancreas	Pancrea
11	chr3:178913000-178930800	Weak transcription	Left Ventricle	heart
12	chr3:178913000-178948200	Weak transcription	Psoas Muscle	Psoas
13	chr3:178913200-178945200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr3:178913200-178947000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:178913200-178947000	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr3:178913800-178954000	Weak transcription	Fetal Heart	heart
17	chr3:178913800-178969000	Weak transcription	Small Intestine	intestine
18	chr3:178914000-178928200	Weak transcription	Brain Hippocampus Middle	brain
19	chr3:178914200-178928000	Weak transcription	Brain Inferior Temporal Lobe	brain
20	chr3:178914200-178928000	Weak transcription	Brain Substantia Nigra	brain
21	chr3:178914200-178928200	Weak transcription	Brain Anterior Caudate	brain
22	chr3:178914600-178945200	Weak transcription	HMEC	breast
23	chr3:178914800-178926400	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr3:178914800-178927200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr3:178914800-178927800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
26	chr3:178914800-178928000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
27	chr3:178914800-178928000	Weak transcription	Colon Smooth Muscle	Colon
28	chr3:178914800-178928000	Weak transcription	Osteobl	bone
29	chr3:178914800-178928200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
30	chr3:178914800-178933400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
31	chr3:178914800-178941400	Weak transcription	GM12878-XiMat	blood
32	chr3:178914800-178942800	Weak transcription	NH-A	brain
33	chr3:178914800-178948000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr3:178914800-178972800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr3:178915400-178929400	Weak transcription	HSMMtube	muscle
36	chr3:178915400-178931000	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr3:178915400-178946000	Weak transcription	Stomach Mucosa	stomach
38	chr3:178915400-178947000	Weak transcription	NHDF-Ad	bronchial
39	chr3:178915600-178947600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr3:178915800-178965200	Weak transcription	Hela-S3	cervix
41	chr3:178916600-178925800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr3:178916600-178926400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr3:178916600-178932600	Strong transcription	Primary monocytes fromperipheralblood	blood
44	chr3:178916800-178930000	Strong transcription	Primary B cells from cord blood	blood
45	chr3:178917200-178932200	Strong transcription	Primary T helper cells fromperipheralblood	blood
46	chr3:178917400-178932600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr3:178917400-178932600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
48	chr3:178917400-178948400	Weak transcription	Esophagus	oesophagus
49	chr3:178917600-178930000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
50	chr3:178917600-178931600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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