Variant report

Variant	rs73835540
Chromosome Location	chr3:50613234-50613235
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50608156..50612219-chr3:50612794..50616407,4	K562	blood:
2	chr3:50599337..50613537-chr3:50634306..50660129,118	MCF-7	breast:
3	chr3:50601756..50613871-chr3:50647072..50654542,28	K562	blood:
4	chr3:50606526..50611586-chr3:50612274..50616724,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000088543	Chromatin interaction
ENSG00000114735	Chromatin interaction
ENSG00000114738	Chromatin interaction
ENSG00000114737	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:186)

rs_ID	r²[population]
rs11130252	0.94[AFR][1000 genomes]
rs11130255	0.94[AFR][1000 genomes]
rs13065995	0.94[AFR][1000 genomes]
rs13072085	0.88[AFR][1000 genomes]
rs13075344	0.94[AFR][1000 genomes]
rs13075377	0.94[AFR][1000 genomes]
rs13084476	0.94[AFR][1000 genomes]
rs13084771	0.94[AFR][1000 genomes]
rs13085096	0.94[AFR][1000 genomes]
rs13089719	0.94[AFR][1000 genomes]
rs13091933	0.94[AFR][1000 genomes]
rs13094336	0.94[AFR][1000 genomes]
rs13095706	0.83[AFR][1000 genomes]
rs13095920	0.94[AFR][1000 genomes]
rs13096264	0.88[AFR][1000 genomes]
rs13096268	0.94[AFR][1000 genomes]
rs13096772	0.94[AFR][1000 genomes]
rs13099712	0.94[AFR][1000 genomes]
rs13100403	0.94[AFR][1000 genomes]
rs1379873	0.88[AFR][1000 genomes]
rs1379874	0.88[AFR][1000 genomes]
rs1379875	0.88[AFR][1000 genomes]
rs1458386	0.94[AFR][1000 genomes]
rs1458387	0.94[AFR][1000 genomes]
rs1463497	0.94[AFR][1000 genomes]
rs1531271	0.88[AFR][1000 genomes]
rs1563683	0.94[AFR][1000 genomes]
rs1598928	0.88[AFR][1000 genomes]
rs17660179	0.94[AFR][1000 genomes]
rs17660513	0.94[AFR][1000 genomes]
rs17787569	0.94[AFR][1000 genomes]
rs1824280	0.94[AFR][1000 genomes]
rs1841067	0.88[AFR][1000 genomes]
rs1902960	0.94[AFR][1000 genomes]
rs1947607	0.94[AFR][1000 genomes]
rs1966920	0.94[AFR][1000 genomes]
rs1975834	0.83[AFR][1000 genomes]
rs2045510	0.94[AFR][1000 genomes]
rs2045511	0.94[AFR][1000 genomes]
rs2061388	0.94[AFR][1000 genomes]
rs2085582	0.88[AFR][1000 genomes]
rs2085584	0.88[AFR][1000 genomes]
rs2085585	0.88[AFR][1000 genomes]
rs2085586	0.88[AFR][1000 genomes]
rs2085587	0.94[AFR][1000 genomes]
rs2125364	0.94[AFR][1000 genomes]
rs2125366	0.94[AFR][1000 genomes]
rs2125369	0.94[AFR][1000 genomes]
rs2168863	0.94[AFR][1000 genomes]
rs2168865	0.88[AFR][1000 genomes]
rs2168866	0.94[AFR][1000 genomes]
rs2199050	0.94[AFR][1000 genomes]
rs2219431	0.88[AFR][1000 genomes]
rs2219432	0.88[AFR][1000 genomes]
rs2227280	0.94[AFR][1000 genomes]
rs2232253	0.94[AFR][1000 genomes]
rs2262810	0.94[AFR][1000 genomes]
rs2269507	0.94[AFR][1000 genomes]
rs2355321	0.94[AFR][1000 genomes]
rs2355341	0.94[AFR][1000 genomes]
rs2355696	0.94[AFR][1000 genomes]
rs2608989	0.94[AFR][1000 genomes]
rs2608993	0.94[AFR][1000 genomes]
rs2608995	0.83[AFR][1000 genomes]
rs2608997	0.94[AFR][1000 genomes]
rs2608999	0.94[AFR][1000 genomes]
rs2609001	0.94[AFR][1000 genomes]
rs2609005	0.94[AFR][1000 genomes]
rs2609006	0.94[AFR][1000 genomes]
rs2609016	0.88[AFR][1000 genomes]
rs2609018	0.88[AFR][1000 genomes]
rs2609019	0.88[AFR][1000 genomes]
rs2609020	0.94[AFR][1000 genomes]
rs2609021	0.94[AFR][1000 genomes]
rs2609022	0.94[AFR][1000 genomes]
rs2609024	0.94[AFR][1000 genomes]
rs2609025	0.94[AFR][1000 genomes]
rs2609028	0.88[AFR][1000 genomes]
rs2609035	0.94[AFR][1000 genomes]
rs2609036	0.94[AFR][1000 genomes]
rs2609037	0.94[AFR][1000 genomes]
rs2675769	0.94[AFR][1000 genomes]
rs2675772	0.94[AFR][1000 genomes]
rs2675773	0.94[AFR][1000 genomes]
rs2675774	0.94[AFR][1000 genomes]
rs2675784	0.88[AFR][1000 genomes]
rs2675787	0.94[AFR][1000 genomes]
rs2675788	0.94[AFR][1000 genomes]
rs2675789	0.94[AFR][1000 genomes]
rs2675790	0.94[AFR][1000 genomes]
rs2675791	0.94[AFR][1000 genomes]
rs2675792	0.94[AFR][1000 genomes]
rs2675793	0.94[AFR][1000 genomes]
rs2675794	0.94[AFR][1000 genomes]
rs2675799	0.88[AFR][1000 genomes]
rs2675800	0.94[AFR][1000 genomes]
rs2675802	0.94[AFR][1000 genomes]
rs2675804	0.94[AFR][1000 genomes]
rs2675806	0.94[AFR][1000 genomes]
rs2675809	0.94[AFR][1000 genomes]
rs2675810	0.94[AFR][1000 genomes]
rs2675812	0.94[AFR][1000 genomes]
rs2675813	0.94[AFR][1000 genomes]
rs2675819	0.88[AFR][1000 genomes]
rs2675821	0.88[AFR][1000 genomes]
rs2675822	0.88[AFR][1000 genomes]
rs2675825	0.88[AFR][1000 genomes]
rs2675827	0.94[AFR][1000 genomes]
rs2675828	0.94[AFR][1000 genomes]
rs2675829	0.94[AFR][1000 genomes]
rs2675830	0.94[AFR][1000 genomes]
rs2675832	0.94[AFR][1000 genomes]
rs2675834	0.94[AFR][1000 genomes]
rs2675835	0.88[AFR][1000 genomes]
rs2675836	0.94[AFR][1000 genomes]
rs2675837	0.94[AFR][1000 genomes]
rs3101107	0.94[AFR][1000 genomes]
rs3106826	0.94[AFR][1000 genomes]
rs34048522	0.94[AFR][1000 genomes]
rs34202063	0.94[AFR][1000 genomes]
rs34266990	0.94[AFR][1000 genomes]
rs34320663	0.94[AFR][1000 genomes]
rs34390947	0.94[AFR][1000 genomes]
rs34399912	0.94[AFR][1000 genomes]
rs34456131	0.83[AFR][1000 genomes]
rs34492910	0.83[AFR][1000 genomes]
rs34576538	0.94[AFR][1000 genomes]
rs34584636	0.94[AFR][1000 genomes]
rs34632971	0.94[AFR][1000 genomes]
rs34756253	0.94[AFR][1000 genomes]
rs34773360	0.94[AFR][1000 genomes]
rs34846525	0.94[AFR][1000 genomes]
rs34866096	0.94[AFR][1000 genomes]
rs34889917	0.94[AFR][1000 genomes]
rs35098074	0.94[AFR][1000 genomes]
rs35140911	0.94[AFR][1000 genomes]
rs35170043	0.94[AFR][1000 genomes]
rs35429015	0.94[AFR][1000 genomes]
rs35531616	0.94[AFR][1000 genomes]
rs35566897	0.94[AFR][1000 genomes]
rs35655236	0.94[AFR][1000 genomes]
rs35690191	0.94[AFR][1000 genomes]
rs36011798	0.83[AFR][1000 genomes]
rs36057916	0.88[AFR][1000 genomes]
rs3804628	0.94[AFR][1000 genomes]
rs3940822	0.94[AFR][1000 genomes]
rs4429624	0.94[AFR][1000 genomes]
rs4688702	0.83[AFR][1000 genomes]
rs4688703	0.94[AFR][1000 genomes]
rs5000953	0.94[AFR][1000 genomes]
rs55833676	1.00[AMR][1000 genomes]
rs56120139	1.00[AMR][1000 genomes]
rs56737163	1.00[AMR][1000 genomes]
rs56837922	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57791592	1.00[AMR][1000 genomes]
rs59909173	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59949730	0.94[AFR][1000 genomes]
rs61142614	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61549968	0.94[AFR][1000 genomes]
rs6446215	0.94[AFR][1000 genomes]
rs66867590	0.94[AFR][1000 genomes]
rs67316637	0.94[AFR][1000 genomes]
rs67410403	0.94[AFR][1000 genomes]
rs67588094	0.94[AFR][1000 genomes]
rs6775012	0.94[AFR][1000 genomes]
rs67813889	0.94[AFR][1000 genomes]
rs6787521	0.94[AFR][1000 genomes]
rs6791880	0.94[AFR][1000 genomes]
rs68191286	0.94[AFR][1000 genomes]
rs71326944	0.94[AFR][1000 genomes]
rs71326945	0.88[AFR][1000 genomes]
rs71329007	0.94[AFR][1000 genomes]
rs71329008	0.88[AFR][1000 genomes]
rs71329014	0.88[AFR][1000 genomes]
rs73072418	0.94[AFR][1000 genomes]
rs73072438	0.94[AFR][1000 genomes]
rs73072442	0.94[AFR][1000 genomes]
rs73833888	0.94[AFR][1000 genomes]
rs73835234	1.00[AMR][1000 genomes]
rs73835506	1.00[AMR][1000 genomes]
rs73835508	1.00[AMR][1000 genomes]
rs7629253	0.94[AFR][1000 genomes]
rs7650574	0.94[AFR][1000 genomes]
rs936405	0.94[AFR][1000 genomes]
rs936406	0.94[AFR][1000 genomes]
rs9839684	0.94[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
3	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
5	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
6	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
7	nsv984540	chr3:50473691-50669310	Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
8	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
9	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
10	nsv460532	chr3:50536273-50616049	Bivalent Enhancer Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv590272	chr3:50536273-50616049	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	17 gene(s)	inside rSNPs	diseases
12	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
13	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:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50607400-50615600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:50607400-50628200	Weak transcription	Small Intestine	intestine
3	chr3:50607600-50614400	Enhancers	Primary T helper cells fromperipheralblood	blood
4	chr3:50607600-50617600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr3:50607600-50628400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr3:50607800-50614200	Weak transcription	Brain Anterior Caudate	brain
7	chr3:50607800-50614800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr3:50607800-50615200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:50607800-50615200	Weak transcription	Aorta	Aorta
10	chr3:50607800-50620000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr3:50607800-50628200	Weak transcription	HSMMtube	muscle
12	chr3:50607800-50628600	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr3:50608000-50618400	Weak transcription	NH-A	brain
14	chr3:50608000-50621400	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:50608000-50621400	Weak transcription	HUVEC	blood vessel
16	chr3:50608000-50621800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
17	chr3:50608200-50613800	Weak transcription	Brain Substantia Nigra	brain
18	chr3:50608200-50614000	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr3:50608200-50614200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr3:50608200-50614400	Weak transcription	HUES6 Cell Line	embryonic stem cell
21	chr3:50608200-50615200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr3:50608200-50616200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:50608200-50617400	Weak transcription	Fetal Brain Male	brain
24	chr3:50608200-50624000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr3:50608200-50628400	Weak transcription	A549	lung
26	chr3:50608200-50637400	Weak transcription	Fetal Kidney	kidney
27	chr3:50608400-50614800	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr3:50608400-50615000	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr3:50608400-50625600	Weak transcription	NHDF-Ad	bronchial
30	chr3:50608800-50614800	Genic enhancers	Placenta	Placenta
31	chr3:50609200-50620800	Strong transcription	Brain Germinal Matrix	brain
32	chr3:50609800-50620600	Strong transcription	Fetal Brain Female	brain
33	chr3:50610000-50613600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:50610000-50614200	Enhancers	Primary T cells fromperipheralblood	blood
35	chr3:50610000-50614400	Weak transcription	Primary B cells from cord blood	blood
36	chr3:50610000-50621400	Weak transcription	Primary neutrophils fromperipheralblood	blood
37	chr3:50610000-50623000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:50610200-50614000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr3:50610200-50614200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr3:50610200-50614200	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:50610200-50614200	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr3:50610200-50614400	Weak transcription	Primary monocytes fromperipheralblood	blood
43	chr3:50610200-50615200	Weak transcription	Left Ventricle	heart
44	chr3:50610200-50618000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
45	chr3:50610200-50618800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr3:50610200-50620400	Strong transcription	Brain Inferior Temporal Lobe	brain
47	chr3:50610200-50623600	Strong transcription	Fetal Muscle Leg	muscle
48	chr3:50610200-50624400	Strong transcription	Fetal Stomach	stomach
49	chr3:50610200-50628000	Weak transcription	Stomach Mucosa	stomach
50	chr3:50610400-50614400	Weak transcription	Right Ventricle	heart

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