Variant report

Variant	rs41308993
Chromosome Location	chr7:150669906-150669907
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:150661035..150665420-chr7:150665668..150673641,9	MCF-7	breast:
2	chr7:150668944..150671861-chr7:150941507..150943455,2	MCF-7	breast:
3	chr7:150668903..150671561-chr7:150807024..150809833,2	MCF-7	breast:
4	chr7:150661173..150665225-chr7:150669426..150673358,7	MCF-7	breast:
5	chr7:150669264..150677850-chr7:150681612..150689209,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164867	Chromatin interaction
ENSG00000133612	Chromatin interaction
ENSG00000082014	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs17173664	0.86[EUR][1000 genomes]
rs36210421	0.88[EUR][1000 genomes]
rs41307316	0.97[EUR][1000 genomes]
rs41308978	0.97[EUR][1000 genomes]
rs41309017	0.84[EUR][1000 genomes]
rs41309026	0.84[EUR][1000 genomes]
rs55642626	0.94[EUR][1000 genomes]
rs55813292	0.82[EUR][1000 genomes]
rs73167606	0.89[EUR][1000 genomes]
rs73167607	0.86[EUR][1000 genomes]
rs73167609	0.86[EUR][1000 genomes]
rs73167611	0.86[EUR][1000 genomes]
rs73167612	0.84[EUR][1000 genomes]
rs73167614	0.86[EUR][1000 genomes]
rs73167615	0.86[EUR][1000 genomes]
rs73167623	0.97[EUR][1000 genomes]
rs73167625	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73167627	1.00[EUR][1000 genomes]
rs73167633	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7792983	0.94[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv608990	chr7:149961274-150707488	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
2	nsv1030109	chr7:150312916-150701010	Enhancers Active TSS Weak transcription Bivalent Enhancer ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	esv1821419	chr7:150593315-150974269	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	128 gene(s)	inside rSNPs	diseases
4	nsv1022246	chr7:150619660-150779924	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
5	nsv889463	chr7:150640285-150700946	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv889464	chr7:150640285-150723467	Enhancers Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
7	nsv889465	chr7:150640285-150800823	Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
8	nsv889466	chr7:150642341-150687430	Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
9	nsv1017863	chr7:150643928-150779924	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
10	nsv539197	chr7:150643928-150779924	Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
11	nsv1028645	chr7:150643928-150806534	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	59 gene(s)	inside rSNPs	diseases
12	nsv539198	chr7:150643928-150879259	Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
13	nsv889467	chr7:150645534-150723467	Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv889468	chr7:150652419-150696111	Weak transcription Flanking Bivalent TSS/Enh Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
15	nsv889469	chr7:150657209-150747746	Flanking Bivalent TSS/Enh Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	nsv609002	chr7:150667210-150678080	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
17	nsv889470	chr7:150667210-150696111	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:150658200-150670800	Enhancers	Rectal Smooth Muscle	rectum
2	chr7:150658800-150670400	Enhancers	Duodenum Smooth Muscle	Duodenum
3	chr7:150661800-150670400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr7:150664000-150670000	Weak transcription	Pancreatic Islets	Pancreatic Islet
5	chr7:150664400-150673600	Enhancers	Fetal Lung	lung
6	chr7:150664600-150674000	Enhancers	Fetal Brain Male	brain
7	chr7:150665200-150671800	Genic enhancers	Fetal Stomach	stomach
8	chr7:150665400-150671800	Enhancers	Left Ventricle	heart
9	chr7:150665600-150671200	Enhancers	Right Ventricle	heart
10	chr7:150666000-150670200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr7:150666000-150670400	Enhancers	Fetal Intestine Small	intestine
12	chr7:150666200-150670000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:150666200-150670800	Enhancers	Cortex derived primary cultured neurospheres	brain
14	chr7:150666400-150670400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:150666400-150671400	Enhancers	Fetal Thymus	thymus
16	chr7:150666800-150670200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr7:150666800-150671400	Enhancers	Fetal Intestine Large	intestine
18	chr7:150667200-150672400	Enhancers	Fetal Heart	heart
19	chr7:150667600-150670000	Enhancers	HSMMtube	muscle
20	chr7:150667600-150670800	Flanking Active TSS	Stomach Smooth Muscle	stomach
21	chr7:150667800-150670200	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr7:150668000-150670200	Enhancers	Brain Substantia Nigra	brain
23	chr7:150668000-150671200	Enhancers	Brain Anterior Caudate	brain
24	chr7:150668200-150670000	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
25	chr7:150668200-150671800	Enhancers	Brain Inferior Temporal Lobe	brain
26	chr7:150668400-150670800	Enhancers	Placenta	Placenta
27	chr7:150668400-150671600	Enhancers	Right Atrium	heart
28	chr7:150668800-150671000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
29	chr7:150668800-150671200	Weak transcription	Sigmoid Colon	Sigmoid Colon
30	chr7:150669000-150670400	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr7:150669000-150670600	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr7:150669000-150670800	Weak transcription	Gastric	stomach
33	chr7:150669000-150671200	Weak transcription	K562	blood
34	chr7:150669200-150670600	Weak transcription	Spleen	Spleen
35	chr7:150669200-150670800	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:150669200-150670800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:150669200-150671200	Enhancers	Brain Germinal Matrix	brain
38	chr7:150669200-150671800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
39	chr7:150669600-150670000	Enhancers	Lung	lung
40	chr7:150669600-150670600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
41	chr7:150669600-150670800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr7:150669600-150670800	Enhancers	Brain Cingulate Gyrus	brain
43	chr7:150669600-150670800	Weak transcription	HSMM	muscle
44	chr7:150669600-150671000	Weak transcription	Esophagus	oesophagus
45	chr7:150669600-150671200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:150669600-150671200	Enhancers	Primary T cells fromperipheralblood	blood
47	chr7:150669600-150671200	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr7:150669600-150671400	Weak transcription	Brain Angular Gyrus	brain
49	chr7:150669600-150671800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:150669600-150671800	Weak transcription	Brain Hippocampus Middle	brain

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