Variant report

Variant	rs73748221
Chromosome Location	chr6:35643723-35643724
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	chr6:35643310..35645988-chr6:35693405..35695855,2	K562	blood:
2	chr6:35643721..35646130-chr6:35654300..35657603,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000096060	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs11961458	0.86[EUR][1000 genomes]
rs11961482	0.86[EUR][1000 genomes]
rs11962885	0.86[EUR][1000 genomes]
rs11963387	0.93[EUR][1000 genomes]
rs11963864	0.93[EUR][1000 genomes]
rs11965291	0.93[EUR][1000 genomes]
rs11966198	0.86[EUR][1000 genomes]
rs11966436	0.86[EUR][1000 genomes]
rs12110366	0.93[EUR][1000 genomes]
rs13340463	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1475774	0.96[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16878591	0.93[EUR][1000 genomes]
rs16878806	0.93[EUR][1000 genomes]
rs16879318	0.86[EUR][1000 genomes]
rs16879378	0.86[EUR][1000 genomes]
rs2092427	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28675670	0.93[EUR][1000 genomes]
rs34866878	0.93[EUR][1000 genomes]
rs41270080	0.93[EUR][1000 genomes]
rs45586932	0.93[EUR][1000 genomes]
rs4713908	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55832955	0.86[EUR][1000 genomes]
rs56002954	0.93[EUR][1000 genomes]
rs56216330	0.93[EUR][1000 genomes]
rs57634040	0.93[EUR][1000 genomes]
rs58873316	0.93[EUR][1000 genomes]
rs59320339	0.93[EUR][1000 genomes]
rs59595954	0.93[EUR][1000 genomes]
rs60279048	0.86[EUR][1000 genomes]
rs60352056	0.86[EUR][1000 genomes]
rs60645405	0.86[EUR][1000 genomes]
rs61024208	0.93[EUR][1000 genomes]
rs61188051	0.93[EUR][1000 genomes]
rs61734569	0.93[EUR][1000 genomes]
rs6909690	0.86[EUR][1000 genomes]
rs6910435	0.81[EUR][1000 genomes]
rs6917735	0.86[EUR][1000 genomes]
rs6917895	0.86[EUR][1000 genomes]
rs6917988	0.86[EUR][1000 genomes]
rs6925456	0.93[EUR][1000 genomes]
rs6932821	0.86[EUR][1000 genomes]
rs6932968	0.86[EUR][1000 genomes]
rs6933159	0.86[EUR][1000 genomes]
rs73746465	0.93[EUR][1000 genomes]
rs73746467	0.93[EUR][1000 genomes]
rs73746471	0.93[EUR][1000 genomes]
rs73746473	0.93[EUR][1000 genomes]
rs73746475	0.86[EUR][1000 genomes]
rs73746476	0.86[EUR][1000 genomes]
rs73746477	0.86[EUR][1000 genomes]
rs73746478	0.93[EUR][1000 genomes]
rs73746480	0.86[EUR][1000 genomes]
rs73746481	0.93[EUR][1000 genomes]
rs73746483	0.86[EUR][1000 genomes]
rs73746484	0.86[EUR][1000 genomes]
rs73746485	0.86[EUR][1000 genomes]
rs73746488	0.93[EUR][1000 genomes]
rs73746490	0.93[EUR][1000 genomes]
rs73746491	0.93[EUR][1000 genomes]
rs73746494	0.93[EUR][1000 genomes]
rs73746495	0.93[EUR][1000 genomes]
rs73746498	0.93[EUR][1000 genomes]
rs73746499	0.93[EUR][1000 genomes]
rs73748203	0.93[EUR][1000 genomes]
rs73748204	0.86[EUR][1000 genomes]
rs73748205	0.86[EUR][1000 genomes]
rs73748206	0.93[EUR][1000 genomes]
rs73748209	0.93[EUR][1000 genomes]
rs73748211	0.93[EUR][1000 genomes]
rs73748220	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7743425	0.93[EUR][1000 genomes]
rs7747121	0.93[EUR][1000 genomes]
rs7752084	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7771722	0.93[EUR][1000 genomes]
rs9767565	0.93[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:20 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758048	chr6:35463741-35806504	Genic enhancers Weak transcription Active TSS Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv2759420	chr6:35463741-35806504	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv602924	chr6:35505311-35750299	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv885801	chr6:35537406-35671651	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Genic enhancers 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 miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
5	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
6	nsv5258	chr6:35601724-35658344	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
7	nsv821646	chr6:35604428-35802594	Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS 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 miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
8	esv1801712	chr6:35614026-35646435	Flanking Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
9	nsv508403	chr6:35619045-35643768	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
10	esv1809645	chr6:35619554-35646435	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	4 gene(s)	inside rSNPs	diseases
11	nsv885802	chr6:35621781-35787417	Active TSS Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
12	nsv885803	chr6:35621781-35805133	Enhancers Flanking Active TSS Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
13	nsv885804	chr6:35621781-35809776	Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
14	esv1796766	chr6:35626500-35646435	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
15	esv1797015	chr6:35626500-35646435	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
16	esv1811106	chr6:35626500-35646435	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	3 gene(s)	inside rSNPs	diseases
17	esv1848709	chr6:35626500-35655890	Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	8 gene(s)	inside rSNPs	diseases
18	esv1851034	chr6:35626500-35656400	Active TSS Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
19	esv1840748	chr6:35629669-35656400	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA	13 gene(s)	inside rSNPs	diseases
20	nsv428143	chr6:35637083-35806504	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35631200-35655000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:35631400-35654400	Weak transcription	Aorta	Aorta
3	chr6:35631600-35644600	Weak transcription	Small Intestine	intestine
4	chr6:35631600-35646600	Weak transcription	Gastric	stomach
5	chr6:35631600-35652000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr6:35633000-35648000	Weak transcription	Right Ventricle	heart
7	chr6:35633000-35653600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr6:35633600-35645200	Weak transcription	Pancreas	Pancrea
9	chr6:35635000-35655000	Weak transcription	Fetal Intestine Small	intestine
10	chr6:35636200-35644600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr6:35636200-35650800	Weak transcription	Lung	lung
12	chr6:35637400-35645200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr6:35637400-35645200	Weak transcription	Fetal Heart	heart
14	chr6:35637400-35646600	Weak transcription	Sigmoid Colon	Sigmoid Colon
15	chr6:35637600-35654400	Weak transcription	Rectal Mucosa Donor 29	rectum
16	chr6:35637800-35643800	Weak transcription	Rectal Mucosa Donor 31	rectum
17	chr6:35637800-35644400	Weak transcription	Osteobl	bone
18	chr6:35637800-35645200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr6:35637800-35645200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr6:35637800-35645200	Weak transcription	HSMM	muscle
21	chr6:35637800-35645400	Weak transcription	Liver	Liver
22	chr6:35637800-35645400	Weak transcription	HMEC	breast
23	chr6:35637800-35645600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:35637800-35653400	Weak transcription	Stomach Smooth Muscle	stomach
25	chr6:35637800-35654400	Weak transcription	Rectal Smooth Muscle	rectum
26	chr6:35637800-35655200	Weak transcription	Fetal Stomach	stomach
27	chr6:35638000-35654400	Weak transcription	Primary hematopoietic stem cells	blood
28	chr6:35638200-35654400	Weak transcription	Primary B cells from cord blood	blood
29	chr6:35638400-35645200	Weak transcription	NHEK	skin
30	chr6:35639000-35645200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr6:35639000-35645200	Weak transcription	Left Ventricle	heart
32	chr6:35639400-35645200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr6:35640400-35647200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
34	chr6:35640800-35645800	Genic enhancers	Muscle Satellite Cultured Cells	--
35	chr6:35640800-35646800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
36	chr6:35641000-35643800	Enhancers	Primary T cells fromperipheralblood	blood
37	chr6:35641000-35646000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
38	chr6:35641000-35646600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr6:35641000-35646600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
40	chr6:35641400-35655000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr6:35641600-35646400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
42	chr6:35641600-35646600	Enhancers	Primary T helper naive cells from peripheral blood	blood
43	chr6:35641600-35647000	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr6:35641600-35648400	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr6:35641800-35644000	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr6:35641800-35645000	Weak transcription	GM12878-XiMat	blood
47	chr6:35641800-35646000	Enhancers	Primary T helper cells fromperipheralblood	blood
48	chr6:35641800-35646600	Weak transcription	Brain Cingulate Gyrus	brain
49	chr6:35641800-35653400	Weak transcription	Esophagus	oesophagus
50	chr6:35642000-35643800	Weak transcription	Monocytes-CD14+_RO01746	blood

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