Variant report

Variant	rs73689252
Chromosome Location	chr7:39704364-39704365
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	chr7:39687898..39690458-chr7:39703472..39705888,2	MCF-7	breast:

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs11983705	0.90[EUR][1000 genomes]
rs11983755	0.90[EUR][1000 genomes]
rs16870185	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16880073	0.90[EUR][1000 genomes]
rs17171605	0.90[EUR][1000 genomes]
rs17171606	0.90[EUR][1000 genomes]
rs2329409	0.90[EUR][1000 genomes]
rs2876857	0.90[EUR][1000 genomes]
rs2876859	0.90[EUR][1000 genomes]
rs2876860	0.90[EUR][1000 genomes]
rs4236361	0.90[EUR][1000 genomes]
rs4236362	0.90[EUR][1000 genomes]
rs4236363	0.90[EUR][1000 genomes]
rs4720332	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4723886	0.90[EUR][1000 genomes]
rs4723890	1.00[EUR][1000 genomes]
rs4723896	0.91[EUR][1000 genomes]
rs56844739	0.90[EUR][1000 genomes]
rs56895888	0.90[EUR][1000 genomes]
rs59434915	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6942614	0.86[AFR][1000 genomes]
rs6948816	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6949371	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6963428	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73377388	0.90[EUR][1000 genomes]
rs73379304	0.90[EUR][1000 genomes]
rs73689214	0.98[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689251	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73689294	0.91[EUR][1000 genomes]
rs7788924	1.00[EUR][1000 genomes]
rs7789326	0.91[EUR][1000 genomes]
rs7805611	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv887971	chr7:39662268-39745775	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv887972	chr7:39666267-39733688	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39672200-39722800	Weak transcription	Hela-S3	cervix
2	chr7:39675200-39708800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr7:39680000-39721600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr7:39680800-39716400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr7:39682800-39722000	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:39683400-39716600	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr7:39683600-39712600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr7:39686200-39704400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
9	chr7:39687400-39715000	Weak transcription	Primary T helper cells fromperipheralblood	blood
10	chr7:39690200-39706600	Weak transcription	Fetal Heart	heart
11	chr7:39691800-39707000	Weak transcription	Skeletal Muscle Male	skeletal muscle
12	chr7:39691800-39708800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:39692000-39707000	Weak transcription	Stomach Mucosa	stomach
14	chr7:39692000-39707000	Weak transcription	HSMMtube	muscle
15	chr7:39692000-39707200	Weak transcription	Primary T helper cells PMA-I stimulated	--
16	chr7:39692200-39714000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr7:39697600-39707000	Weak transcription	Adipose Nuclei	Adipose
18	chr7:39697800-39707000	Weak transcription	HSMM	muscle
19	chr7:39698000-39704400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:39698800-39707000	Weak transcription	Left Ventricle	heart
21	chr7:39699200-39705000	Weak transcription	Rectal Smooth Muscle	rectum
22	chr7:39699400-39705800	Weak transcription	NHDF-Ad	bronchial
23	chr7:39699400-39707000	Weak transcription	Ovary	ovary
24	chr7:39699400-39712000	Weak transcription	Fetal Kidney	kidney
25	chr7:39699600-39706400	Weak transcription	NHLF	lung
26	chr7:39699600-39707000	Weak transcription	Osteobl	bone
27	chr7:39700000-39704400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr7:39700000-39707000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
29	chr7:39700000-39728200	Weak transcription	Liver	Liver
30	chr7:39701200-39704400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:39701200-39718400	Weak transcription	Monocytes-CD14+_RO01746	blood
32	chr7:39701400-39704800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
33	chr7:39701800-39704600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:39701800-39708200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:39701800-39716400	Weak transcription	Duodenum Mucosa	Duodenum
36	chr7:39701800-39720800	Weak transcription	Lung	lung
37	chr7:39701800-39721200	Weak transcription	Thymus	Thymus
38	chr7:39701800-39722600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:39701800-39739400	Weak transcription	Esophagus	oesophagus
40	chr7:39702000-39704400	Weak transcription	H1 Cell Line	embryonic stem cell
41	chr7:39702000-39704600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
42	chr7:39702000-39705800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr7:39702000-39706200	Weak transcription	Fetal Stomach	stomach
44	chr7:39702000-39707000	Weak transcription	Right Ventricle	heart
45	chr7:39702000-39709200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr7:39702000-39716600	Weak transcription	Fetal Muscle Trunk	muscle
47	chr7:39702000-39727400	Weak transcription	Fetal Intestine Large	intestine
48	chr7:39702200-39705200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr7:39702200-39706200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:39702200-39706400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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