Variant report

Variant	rs74043029
Chromosome Location	chr13:30717873-30717874
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:30697642..30699768-chr13:30715433..30718388,2	MCF-7	breast:
2	chr13:30710616..30714136-chr13:30716937..30719066,3	K562	blood:
3	chr13:30716922..30719833-chr13:30752505..30754476,2	MCF-7	breast:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs472160	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs501877	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs501911	1.00[AMR][1000 genomes]
rs506517	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs509729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs537597	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56292131	1.00[AMR][1000 genomes]
rs564949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58426783	1.00[AFR][1000 genomes]
rs58662887	1.00[AMR][1000 genomes]
rs602584	1.00[AFR][1000 genomes]
rs60673071	1.00[AMR][1000 genomes]
rs631673	1.00[AMR][1000 genomes]
rs658913	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs663161	1.00[AMR][1000 genomes]
rs683993	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74043017	1.00[AMR][1000 genomes]
rs74043032	1.00[AFR][1000 genomes]
rs74043047	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040215	chr13:30621351-30741022	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv541745	chr13:30621351-30741022	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv832572	chr13:30650005-30835256	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv981	chr13:30703159-30739838	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	esv1847946	chr13:30707385-30731192	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:30714400-30718000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr13:30714600-30721800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
3	chr13:30715000-30734000	Enhancers	Primary T cells fromperipheralblood	blood
4	chr13:30715200-30718400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr13:30715200-30727600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
6	chr13:30715400-30718800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
7	chr13:30715400-30720000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr13:30715400-30727200	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr13:30715400-30727200	Enhancers	Primary T helper cells fromperipheralblood	blood
10	chr13:30715600-30718200	Enhancers	Primary T cells from cord blood	blood
11	chr13:30715600-30719000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr13:30715600-30720000	Enhancers	Primary T helper naive cells from peripheral blood	blood
13	chr13:30715600-30720000	Enhancers	GM12878-XiMat	blood
14	chr13:30715800-30718200	Enhancers	Placenta	Placenta
15	chr13:30715800-30718400	Enhancers	Adipose Nuclei	Adipose
16	chr13:30715800-30718400	Enhancers	NHDF-Ad	bronchial
17	chr13:30716000-30718000	Enhancers	Fetal Muscle Leg	muscle
18	chr13:30716000-30718200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr13:30716000-30718400	Enhancers	HUVEC	blood vessel
20	chr13:30716000-30718600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr13:30716200-30718000	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:30716400-30718000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
23	chr13:30716400-30718600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr13:30716600-30718000	Enhancers	Sigmoid Colon	Sigmoid Colon
25	chr13:30716800-30718000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr13:30716800-30718000	Enhancers	Esophagus	oesophagus
27	chr13:30716800-30718000	Enhancers	Placenta Amnion	Placenta Amnion
28	chr13:30716800-30720200	Weak transcription	Thymus	Thymus
29	chr13:30717000-30718600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr13:30717000-30720400	Weak transcription	Dnd41	blood
31	chr13:30717200-30718000	Flanking Active TSS	HSMM	muscle
32	chr13:30717200-30718200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr13:30717200-30718400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr13:30717200-30718400	Flanking Active TSS	Muscle Satellite Cultured Cells	--
35	chr13:30717400-30718000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr13:30717400-30718000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
37	chr13:30717400-30718000	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr13:30717400-30718200	Enhancers	Stomach Smooth Muscle	stomach
39	chr13:30717400-30718200	Flanking Active TSS	NH-A	brain
40	chr13:30717400-30718400	Enhancers	Hela-S3	cervix
41	chr13:30717400-30718400	Enhancers	HMEC	breast
42	chr13:30717400-30720000	Weak transcription	Fetal Thymus	thymus
43	chr13:30717600-30718000	ZNF genes & repeats	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr13:30717600-30718000	Enhancers	HSMMtube	muscle
45	chr13:30717600-30718000	Enhancers	Osteobl	bone
46	chr13:30717600-30718200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr13:30717600-30718200	Enhancers	NHEK	skin
48	chr13:30717600-30718400	Enhancers	Breast Myoepithelial Primary Cells	Breast
49	chr13:30717600-30718400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr13:30717600-30718400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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