Variant report

Variant	rs4773242
Chromosome Location	chr13:111372392-111372393
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:111370419..111377483-chr13:111379803..111385146,6	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs170618	1.00[AMR][1000 genomes]
rs2391847	1.00[AMR][1000 genomes]
rs2582882	1.00[AMR][1000 genomes]
rs2766712	1.00[AMR][1000 genomes]
rs328789	1.00[AMR][1000 genomes]
rs328791	1.00[AMR][1000 genomes]
rs328792	1.00[AMR][1000 genomes]
rs371784	1.00[AMR][1000 genomes]
rs439887	1.00[AMR][1000 genomes]
rs6492307	0.91[AFR][1000 genomes]
rs73621291	1.00[AMR][1000 genomes]
rs73623107	1.00[AMR][1000 genomes]
rs7998859	1.00[AMR][1000 genomes]
rs912939	1.00[AMR][1000 genomes]
rs9515275	1.00[AMR][1000 genomes]
rs9521920	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
2	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
3	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
4	nsv901014	chr13:111302922-111380684	ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	197 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	chr13:111369200-111376000	Weak transcription	Colon Smooth Muscle	Colon
2	chr13:111369200-111376200	Weak transcription	HSMMtube	muscle
3	chr13:111369200-111381400	Weak transcription	Brain Cingulate Gyrus	brain
4	chr13:111369800-111373800	Weak transcription	Brain Angular Gyrus	brain
5	chr13:111370200-111373600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr13:111370200-111379000	Weak transcription	HUVEC	blood vessel
7	chr13:111370200-111383400	Weak transcription	Right Atrium	heart
8	chr13:111370400-111374600	Weak transcription	HMEC	breast
9	chr13:111370400-111379400	Weak transcription	Fetal Kidney	kidney
10	chr13:111370800-111374400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr13:111370800-111375400	Weak transcription	Brain Anterior Caudate	brain
12	chr13:111370800-111375600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr13:111370800-111375800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr13:111370800-111377800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr13:111370800-111378000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
16	chr13:111370800-111379200	Weak transcription	Psoas Muscle	Psoas
17	chr13:111370800-111380200	Weak transcription	HSMM	muscle
18	chr13:111370800-111380800	Weak transcription	Hela-S3	cervix
19	chr13:111371000-111377800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr13:111371000-111377800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr13:111371200-111372400	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr13:111371200-111372400	Strong transcription	Fetal Intestine Small	intestine
23	chr13:111371200-111372400	Genic enhancers	Spleen	Spleen
24	chr13:111371200-111372600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr13:111371200-111372600	Strong transcription	Fetal Stomach	stomach
26	chr13:111371200-111373600	Strong transcription	Fetal Thymus	thymus
27	chr13:111371200-111375000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr13:111371200-111375600	Strong transcription	Dnd41	blood
29	chr13:111371400-111372400	Genic enhancers	Primary T helper cells fromperipheralblood	blood
30	chr13:111371400-111372400	Genic enhancers	Pancreas	Pancrea
31	chr13:111371400-111372600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr13:111371400-111372600	Strong transcription	Fetal Muscle Leg	muscle
33	chr13:111371400-111373600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
34	chr13:111371400-111373600	Strong transcription	Sigmoid Colon	Sigmoid Colon
35	chr13:111371400-111373800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr13:111371400-111373800	Strong transcription	Cortex derived primary cultured neurospheres	brain
37	chr13:111371400-111373800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr13:111371400-111374400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr13:111371400-111375200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr13:111371400-111376400	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr13:111371600-111372400	Strong transcription	iPS-15b Cell Line	embryonic stem cell
42	chr13:111371600-111372400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr13:111371600-111372400	Strong transcription	Brain Hippocampus Middle	brain
44	chr13:111371600-111372400	Strong transcription	Colonic Mucosa	Colon
45	chr13:111371600-111372400	Strong transcription	Fetal Muscle Trunk	muscle
46	chr13:111371600-111372400	Genic enhancers	Lung	lung
47	chr13:111371600-111372400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr13:111371600-111372400	Strong transcription	Rectal Smooth Muscle	rectum
49	chr13:111371600-111372600	Strong transcription	Brain Inferior Temporal Lobe	brain
50	chr13:111371600-111372600	Strong transcription	HepG2	liver

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