Variant report

Variant	rs73718008
Chromosome Location	chr6:5246437-5246438
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:5244206..5246671-chr6:5260247..5262061,2	MCF-7	breast:
2	chr6:5243071..5246983-chr6:5247269..5251044,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000145982	Chromatin interaction
ENSG00000214113	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11242997	1.00[EUR][1000 genomes]
rs11242998	1.00[EUR][1000 genomes]
rs11242999	1.00[EUR][1000 genomes]
rs13202971	1.00[EUR][1000 genomes]
rs13203250	1.00[EUR][1000 genomes]
rs13212749	1.00[EUR][1000 genomes]
rs13213703	1.00[EUR][1000 genomes]
rs13217077	1.00[EUR][1000 genomes]
rs13219584	1.00[EUR][1000 genomes]
rs13219950	1.00[EUR][1000 genomes]
rs17133271	1.00[EUR][1000 genomes]
rs17139838	1.00[EUR][1000 genomes]
rs17139841	1.00[EUR][1000 genomes]
rs17139848	1.00[EUR][1000 genomes]
rs17139851	1.00[EUR][1000 genomes]
rs17139853	1.00[EUR][1000 genomes]
rs17139856	1.00[EUR][1000 genomes]
rs17139860	1.00[EUR][1000 genomes]
rs2503820	1.00[EUR][1000 genomes]
rs34041880	1.00[EUR][1000 genomes]
rs34110180	1.00[EUR][1000 genomes]
rs34120947	1.00[EUR][1000 genomes]
rs34146318	1.00[EUR][1000 genomes]
rs34170037	1.00[EUR][1000 genomes]
rs34211615	1.00[EUR][1000 genomes]
rs34265509	1.00[EUR][1000 genomes]
rs34421021	1.00[EUR][1000 genomes]
rs34440991	1.00[EUR][1000 genomes]
rs34449449	1.00[EUR][1000 genomes]
rs34512910	1.00[EUR][1000 genomes]
rs34711553	1.00[EUR][1000 genomes]
rs34713043	1.00[EUR][1000 genomes]
rs34903116	1.00[EUR][1000 genomes]
rs34908251	1.00[EUR][1000 genomes]
rs34968006	1.00[EUR][1000 genomes]
rs34968842	1.00[EUR][1000 genomes]
rs35039476	1.00[EUR][1000 genomes]
rs35073344	1.00[EUR][1000 genomes]
rs35218696	1.00[EUR][1000 genomes]
rs35277899	1.00[EUR][1000 genomes]
rs35324863	1.00[EUR][1000 genomes]
rs35525232	1.00[EUR][1000 genomes]
rs35587351	1.00[EUR][1000 genomes]
rs35864979	1.00[EUR][1000 genomes]
rs35869391	1.00[EUR][1000 genomes]
rs36007403	1.00[EUR][1000 genomes]
rs36010137	1.00[EUR][1000 genomes]
rs36018728	1.00[EUR][1000 genomes]
rs55642360	1.00[AMR][1000 genomes]
rs55720402	1.00[EUR][1000 genomes]
rs56034435	1.00[EUR][1000 genomes]
rs56343430	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58508775	1.00[EUR][1000 genomes]
rs59994371	1.00[EUR][1000 genomes]
rs60890075	1.00[EUR][1000 genomes]
rs61089858	1.00[EUR][1000 genomes]
rs6901286	1.00[EUR][1000 genomes]
rs6921627	1.00[EUR][1000 genomes]
rs6935667	1.00[EUR][1000 genomes]
rs6935687	1.00[EUR][1000 genomes]
rs71555883	1.00[EUR][1000 genomes]
rs71555885	1.00[EUR][1000 genomes]
rs71555886	1.00[EUR][1000 genomes]
rs71557549	1.00[EUR][1000 genomes]
rs71557550	1.00[EUR][1000 genomes]
rs71557551	1.00[EUR][1000 genomes]
rs73718006	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73718010	0.92[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73718012	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73719741	1.00[EUR][1000 genomes]
rs73719743	1.00[EUR][1000 genomes]
rs73719759	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73719775	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73719776	0.87[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7744301	0.81[AFR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1023527	chr6:4729592-5387176	Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv600872	chr6:4975313-5342190	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1031837	chr6:4996667-5418726	Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
4	nsv1034681	chr6:5070351-5387176	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
5	nsv538113	chr6:5070351-5387176	Enhancers Genic enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
6	nsv1018152	chr6:5077025-5387176	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	13 gene(s)	inside rSNPs	diseases
7	nsv600873	chr6:5089278-5400658	Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1030254	chr6:5132261-5431585	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
9	nsv1034463	chr6:5137959-5345678	Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	10 gene(s)	inside rSNPs	diseases
10	nsv1021646	chr6:5157795-5367254	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	nsv538115	chr6:5157795-5367254	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
12	nsv1029609	chr6:5187633-5397254	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
13	nsv1035080	chr6:5206533-5396019	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
14	nsv538116	chr6:5206533-5396019	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
15	nsv1016456	chr6:5216835-5315913	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv538117	chr6:5216835-5315913	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
17	nsv1019428	chr6:5216835-5627839	Enhancers Weak transcription Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
18	nsv538118	chr6:5216835-5627839	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
19	nsv522457	chr6:5245070-5260936	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:5206200-5246800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr6:5208200-5259800	Weak transcription	Primary B cells from peripheral blood	blood
3	chr6:5214600-5248800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr6:5214800-5248800	Weak transcription	A549	lung
5	chr6:5215000-5252600	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:5215000-5257400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr6:5215000-5259800	Weak transcription	Primary T cells fromperipheralblood	blood
8	chr6:5215400-5259800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr6:5215600-5251600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:5215600-5254600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:5215600-5259800	Weak transcription	NHDF-Ad	bronchial
12	chr6:5215800-5251200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr6:5216200-5251400	Weak transcription	Fetal Brain Female	brain
14	chr6:5216400-5259600	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr6:5216600-5259600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
16	chr6:5220800-5259600	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr6:5222400-5253800	Weak transcription	Dnd41	blood
18	chr6:5227800-5259800	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr6:5231000-5249400	Weak transcription	HSMMtube	muscle
20	chr6:5231000-5260200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
21	chr6:5231200-5249800	Weak transcription	HSMM	muscle
22	chr6:5231400-5250000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr6:5231600-5249200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr6:5231800-5259800	Weak transcription	Skeletal Muscle Male	skeletal muscle
25	chr6:5231800-5260000	Weak transcription	NHLF	lung
26	chr6:5231800-5260200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
27	chr6:5232000-5259800	Weak transcription	HUVEC	blood vessel
28	chr6:5232000-5260200	Weak transcription	H9 Cell Line	embryonic stem cell
29	chr6:5232400-5260000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr6:5232800-5253600	Weak transcription	Psoas Muscle	Psoas
31	chr6:5233200-5246800	Weak transcription	Brain Substantia Nigra	brain
32	chr6:5233400-5259800	Weak transcription	Brain Angular Gyrus	brain
33	chr6:5233400-5259800	Weak transcription	Brain Cingulate Gyrus	brain
34	chr6:5233400-5259800	Weak transcription	Brain Hippocampus Middle	brain
35	chr6:5233600-5254200	Weak transcription	Ovary	ovary
36	chr6:5233800-5253800	Weak transcription	Rectal Smooth Muscle	rectum
37	chr6:5234200-5257400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr6:5235200-5259400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr6:5235200-5259800	Weak transcription	Adipose Nuclei	Adipose
40	chr6:5235600-5259800	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr6:5235800-5259800	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr6:5236200-5254000	Weak transcription	Hela-S3	cervix
43	chr6:5236400-5249800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr6:5236400-5259600	Weak transcription	Fetal Intestine Large	intestine
45	chr6:5236400-5260200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr6:5236600-5248600	Weak transcription	Spleen	Spleen
47	chr6:5239000-5251600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr6:5239000-5260200	Weak transcription	Colonic Mucosa	Colon
49	chr6:5239400-5259400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr6:5239600-5246600	Weak transcription	GM12878-XiMat	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links