Variant report

Variant	rs3804632
Chromosome Location	chr3:50671362-50671363
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50658169..50660186-chr3:50671108..50673991,2	MCF-7	breast:
2	chr3:50668689..50672125-chr3:50673046..50675636,3	K562	blood:
3	chr3:50665308..50667581-chr3:50670455..50672220,2	K562	blood:
4	chr3:50653782..50659891-chr3:50667242..50673193,6	K562	blood:
5	chr3:50653782..50658590-chr3:50669577..50673193,4	K562	blood:
6	chr3:50671203..50673745-chr3:50674987..50677707,3	K562	blood:

Variant related genes	Relation type
ENSG00000114738	Chromatin interaction

Extended variants
information (count: 199 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:193)

rs_ID	r²[population]
rs1013233	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11130255	0.88[EUR][1000 genomes]
rs11710858	0.88[EUR][1000 genomes]
rs11712367	0.82[ASN][1000 genomes]
rs11716398	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs12491425	0.80[AMR][1000 genomes]
rs129310	0.90[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs13072085	0.83[EUR][1000 genomes]
rs13075344	0.85[EUR][1000 genomes]
rs13084771	0.91[EUR][1000 genomes]
rs13085096	0.85[EUR][1000 genomes]
rs13089719	0.88[EUR][1000 genomes]
rs13094785	0.89[EUR][1000 genomes]
rs13095920	0.80[EUR][1000 genomes]
rs13096264	0.91[EUR][1000 genomes]
rs13096772	0.91[EUR][1000 genomes]
rs1379873	0.84[EUR][1000 genomes]
rs1379874	0.84[EUR][1000 genomes]
rs1379875	0.84[EUR][1000 genomes]
rs1385025	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1458386	0.84[EUR][1000 genomes]
rs1458387	0.86[EUR][1000 genomes]
rs1463496	0.82[EUR][1000 genomes]
rs1463497	0.82[EUR][1000 genomes]
rs1531271	0.84[EUR][1000 genomes]
rs1563683	0.82[EUR][1000 genomes]
rs1563684	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1598927	0.85[EUR][1000 genomes]
rs1598928	0.84[EUR][1000 genomes]
rs175634	0.88[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs17660179	0.81[EUR][1000 genomes]
rs1824280	0.82[EUR][1000 genomes]
rs1824281	0.81[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1841067	0.84[EUR][1000 genomes]
rs1902960	0.82[EUR][1000 genomes]
rs1966921	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1971976	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs201193	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs2085582	0.84[EUR][1000 genomes]
rs2085584	0.84[EUR][1000 genomes]
rs2085585	0.84[EUR][1000 genomes]
rs2085586	0.84[EUR][1000 genomes]
rs2086827	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2125366	0.82[EUR][1000 genomes]
rs2125369	0.86[EUR][1000 genomes]
rs2168865	0.84[EUR][1000 genomes]
rs2168866	0.84[EUR][1000 genomes]
rs2170840	0.83[AFR][1000 genomes]
rs2199050	0.80[EUR][1000 genomes]
rs2219431	0.84[EUR][1000 genomes]
rs2219432	0.84[EUR][1000 genomes]
rs2219433	0.85[EUR][1000 genomes]
rs2232248	0.82[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2262810	0.80[EUR][1000 genomes]
rs2269505	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs2355323	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs2355341	0.86[EUR][1000 genomes]
rs2355702	0.85[EUR][1000 genomes]
rs2608989	0.80[EUR][1000 genomes]
rs2608990	0.84[EUR][1000 genomes]
rs2608999	0.80[EUR][1000 genomes]
rs2609001	0.80[EUR][1000 genomes]
rs2609005	0.80[EUR][1000 genomes]
rs2609006	0.80[EUR][1000 genomes]
rs2609016	0.84[EUR][1000 genomes]
rs2609018	0.84[EUR][1000 genomes]
rs2609019	0.84[EUR][1000 genomes]
rs2609024	0.80[EUR][1000 genomes]
rs2609028	0.84[EUR][1000 genomes]
rs2609035	0.86[EUR][1000 genomes]
rs2609036	0.86[EUR][1000 genomes]
rs2675769	0.80[EUR][1000 genomes]
rs2675771	0.80[EUR][1000 genomes]
rs2675772	0.80[EUR][1000 genomes]
rs2675773	0.80[EUR][1000 genomes]
rs2675774	0.80[EUR][1000 genomes]
rs2675784	0.84[EUR][1000 genomes]
rs2675810	0.80[EUR][1000 genomes]
rs2675812	0.80[EUR][1000 genomes]
rs2675813	0.80[EUR][1000 genomes]
rs2675819	0.84[EUR][1000 genomes]
rs2675821	0.84[EUR][1000 genomes]
rs2675822	0.84[EUR][1000 genomes]
rs2675825	0.84[EUR][1000 genomes]
rs2675827	0.80[EUR][1000 genomes]
rs34048522	0.80[EUR][1000 genomes]
rs34266990	0.85[EUR][1000 genomes]
rs34390947	0.85[EUR][1000 genomes]
rs34492910	0.88[EUR][1000 genomes]
rs34632971	0.91[EUR][1000 genomes]
rs34773360	0.86[EUR][1000 genomes]
rs34846525	0.91[EUR][1000 genomes]
rs34848480	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34866096	0.88[EUR][1000 genomes]
rs35140911	0.80[EUR][1000 genomes]
rs35170043	0.86[EUR][1000 genomes]
rs35193996	0.84[EUR][1000 genomes]
rs35429015	0.88[EUR][1000 genomes]
rs35531616	0.88[EUR][1000 genomes]
rs35566897	0.88[EUR][1000 genomes]
rs36011798	0.88[EUR][1000 genomes]
rs36057916	0.84[EUR][1000 genomes]
rs375544	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3792325	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3792328	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3804627	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs3804628	0.91[EUR][1000 genomes]
rs3943212	0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs396302	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs399971	0.89[AFR][1000 genomes];0.87[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs414171	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs417592	0.86[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs441516	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4429624	0.82[EUR][1000 genomes]
rs443030	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.86[ASN][1000 genomes]
rs443436	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4476497	0.83[AFR][1000 genomes]
rs448028	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4530518	0.85[EUR][1000 genomes]
rs453570	0.94[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs4688702	0.82[EUR][1000 genomes]
rs4688703	0.82[EUR][1000 genomes]
rs4688705	0.83[AFR][1000 genomes]
rs5000953	0.82[EUR][1000 genomes]
rs61549968	0.88[EUR][1000 genomes]
rs616589	0.99[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs616689	0.88[AFR][1000 genomes]
rs622502	0.80[EUR][1000 genomes]
rs6446208	0.83[AFR][1000 genomes]
rs6446210	0.89[EUR][1000 genomes]
rs6446212	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6446213	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6446215	0.82[EUR][1000 genomes]
rs650655	0.81[AFR][1000 genomes]
rs66472954	0.84[EUR][1000 genomes]
rs66684483	0.84[EUR][1000 genomes]
rs66867590	0.91[EUR][1000 genomes]
rs67211895	0.84[EUR][1000 genomes]
rs67410403	0.80[EUR][1000 genomes]
rs6763990	0.81[EUR][1000 genomes]
rs67672341	0.84[EUR][1000 genomes]
rs6770954	0.83[EUR][1000 genomes]
rs6771348	0.83[AFR][1000 genomes]
rs6775012	0.82[EUR][1000 genomes]
rs6776224	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6778680	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6779819	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6783922	0.83[AFR][1000 genomes]
rs6791880	0.91[EUR][1000 genomes]
rs6794155	0.82[AFR][1000 genomes]
rs6796769	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs68191286	0.88[EUR][1000 genomes]
rs695170	0.91[AFR][1000 genomes];0.89[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs71326944	0.88[EUR][1000 genomes]
rs71326945	0.85[EUR][1000 genomes]
rs71329007	0.80[EUR][1000 genomes]
rs71329014	0.81[EUR][1000 genomes]
rs71329017	0.84[EUR][1000 genomes]
rs728901	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73072418	0.88[EUR][1000 genomes]
rs73072438	0.86[EUR][1000 genomes]
rs73072442	0.88[EUR][1000 genomes]
rs745356	0.83[AFR][1000 genomes]
rs751851	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7611428	0.88[EUR][1000 genomes]
rs7615703	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7629253	0.82[EUR][1000 genomes]
rs7635666	0.84[AFR][1000 genomes];0.98[AMR][1000 genomes];0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7642158	0.85[EUR][1000 genomes]
rs7645212	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7646236	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs7650574	0.82[EUR][1000 genomes]
rs7652715	0.83[EUR][1000 genomes]
rs808148	0.83[AFR][1000 genomes]
rs808149	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs809451	0.80[EUR][1000 genomes]
rs809454	0.88[AFR][1000 genomes];0.87[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs813243	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs876103	0.83[AFR][1000 genomes]
rs876104	0.83[AFR][1000 genomes]
rs876105	0.83[AFR][1000 genomes]
rs900735	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs936405	0.86[EUR][1000 genomes]
rs936406	0.86[EUR][1000 genomes]
rs9682401	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9820606	0.81[ASN][1000 genomes]
rs9824522	0.82[ASN][1000 genomes]
rs9825535	0.82[ASN][1000 genomes]
rs9826757	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9839684	0.82[EUR][1000 genomes]
rs9867489	0.82[ASN][1000 genomes]
rs9868889	0.88[AFR][1000 genomes]
rs9879397	0.83[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013225	chr3:50440826-50700448	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
2	nsv536566	chr3:50440826-50700448	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv1012501	chr3:50483037-50679591	Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv536567	chr3:50483037-50679591	Bivalent Enhancer Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv460533	chr3:50574213-50678151	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv590273	chr3:50574213-50678151	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50655400-50677800	Weak transcription	Aorta	Aorta
2	chr3:50655600-50681200	Weak transcription	Fetal Brain Female	brain
3	chr3:50656000-50675600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:50656000-50677800	Weak transcription	Rectal Smooth Muscle	rectum
5	chr3:50657600-50678200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr3:50660200-50671600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr3:50660200-50677000	Weak transcription	Liver	Liver
8	chr3:50661400-50671600	Enhancers	Left Ventricle	heart
9	chr3:50661600-50674400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
10	chr3:50661600-50675800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr3:50661600-50688200	Weak transcription	Small Intestine	intestine
12	chr3:50662400-50672000	Enhancers	Primary hematopoietic stem cells	blood
13	chr3:50662400-50678200	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr3:50662600-50675800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr3:50663200-50677600	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr3:50663400-50690000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
17	chr3:50664200-50672600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr3:50664400-50672800	Genic enhancers	Dnd41	blood
19	chr3:50665200-50674400	Weak transcription	Colonic Mucosa	Colon
20	chr3:50665400-50679000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr3:50665400-50686800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:50665600-50673800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr3:50665600-50675600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr3:50665600-50686200	Weak transcription	Stomach Mucosa	stomach
25	chr3:50665800-50672200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
26	chr3:50665800-50674000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr3:50665800-50675400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr3:50665800-50675600	Weak transcription	Brain Substantia Nigra	brain
29	chr3:50665800-50675800	Weak transcription	NHLF	lung
30	chr3:50666000-50671800	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr3:50666200-50671400	Enhancers	Muscle Satellite Cultured Cells	--
32	chr3:50666200-50673600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr3:50666600-50675400	Weak transcription	Stomach Smooth Muscle	stomach
34	chr3:50667000-50674000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
35	chr3:50667200-50673800	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:50667200-50680400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr3:50667600-50671800	Enhancers	Fetal Heart	heart
38	chr3:50668000-50671400	Enhancers	Placenta	Placenta
39	chr3:50668000-50671800	Enhancers	Primary B cells from cord blood	blood
40	chr3:50668000-50673400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr3:50668000-50673800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr3:50668200-50673600	Weak transcription	Duodenum Mucosa	Duodenum
43	chr3:50668400-50671400	Enhancers	Skeletal Muscle Male	skeletal muscle
44	chr3:50668400-50672200	Enhancers	Primary T helper cells PMA-I stimulated	--
45	chr3:50668600-50671400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr3:50668600-50671800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
47	chr3:50668600-50673600	Weak transcription	HSMM	muscle
48	chr3:50668600-50673800	Weak transcription	Fetal Kidney	kidney
49	chr3:50668600-50678800	Weak transcription	Pancreas	Pancrea
50	chr3:50668600-50679200	Weak transcription	HepG2	liver

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