Variant report

Variant	rs73694335
Chromosome Location	chr7:48137898-48137899
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:48017626..48019782-chr7:48136593..48139587,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000136273	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11975785	0.86[EUR][1000 genomes]
rs17132070	0.86[EUR][1000 genomes]
rs1879832	0.86[EUR][1000 genomes]
rs2056472	0.86[EUR][1000 genomes]
rs2230761	1.00[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2348664	0.86[EUR][1000 genomes]
rs58352699	0.86[EUR][1000 genomes]
rs58725335	0.86[EUR][1000 genomes]
rs6947955	0.86[EUR][1000 genomes]
rs6951116	0.86[EUR][1000 genomes]
rs73337874	0.86[EUR][1000 genomes]
rs73337876	0.86[EUR][1000 genomes]
rs73694336	0.87[AFR][1000 genomes]
rs73694338	0.82[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1026223	chr7:47560728-48243287	Genic enhancers Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv869585	chr7:47765428-48151324	Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv532120	chr7:47882757-48195869	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
4	nsv470221	chr7:47917495-48354363	Strong transcription Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv464442	chr7:47917495-48354820	Genic enhancers Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv606893	chr7:47917495-48354820	Flanking Active TSS Strong transcription Genic enhancers Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv1027414	chr7:48117684-48438543	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	esv997355	chr7:48128431-48138826	Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:48129600-48141000	Weak transcription	Gastric	stomach
2	chr7:48129600-48141200	Weak transcription	Ovary	ovary
3	chr7:48130200-48138200	Weak transcription	Pancreas	Pancrea
4	chr7:48130200-48141400	Weak transcription	Brain Substantia Nigra	brain
5	chr7:48130200-48146800	Weak transcription	Colon Smooth Muscle	Colon
6	chr7:48130200-48148200	Weak transcription	Right Atrium	heart
7	chr7:48130400-48141400	Weak transcription	HepG2	liver
8	chr7:48130400-48149800	Weak transcription	Fetal Kidney	kidney
9	chr7:48130400-48150000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr7:48130600-48139200	Genic enhancers	Placenta	Placenta
11	chr7:48130600-48143600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr7:48130800-48149200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr7:48131000-48145200	Strong transcription	Rectal Mucosa Donor 31	rectum
14	chr7:48131000-48149200	Strong transcription	Rectal Mucosa Donor 29	rectum
15	chr7:48131200-48138800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr7:48131200-48145000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:48131200-48148800	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr7:48131200-48149200	Strong transcription	Duodenum Mucosa	Duodenum
19	chr7:48131400-48139800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
20	chr7:48131400-48149000	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:48131400-48149400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
22	chr7:48131600-48138400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:48131600-48139200	Genic enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr7:48131600-48142200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr7:48131600-48148800	Strong transcription	HUES64 Cell Line	embryonic stem cell
26	chr7:48131600-48149000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
27	chr7:48131600-48149600	Weak transcription	Thymus	Thymus
28	chr7:48132000-48138200	Strong transcription	iPS-15b Cell Line	embryonic stem cell
29	chr7:48132000-48139600	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr7:48132200-48146400	Weak transcription	Small Intestine	intestine
31	chr7:48132200-48149200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:48133200-48141200	Weak transcription	Fetal Intestine Large	intestine
33	chr7:48133400-48141200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr7:48133400-48141200	Weak transcription	Brain Anterior Caudate	brain
35	chr7:48133400-48141400	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:48133800-48138600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr7:48134200-48149600	Weak transcription	GM12878-XiMat	blood
38	chr7:48134400-48138200	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr7:48134400-48138600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
40	chr7:48134400-48141000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr7:48134400-48148000	Weak transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:48134600-48138000	Genic enhancers	Muscle Satellite Cultured Cells	--
43	chr7:48134600-48139800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
44	chr7:48134800-48141000	Weak transcription	Brain Angular Gyrus	brain
45	chr7:48134800-48141000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr7:48135000-48138200	Weak transcription	Fetal Heart	heart
47	chr7:48135200-48138200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
48	chr7:48135200-48138200	Weak transcription	Stomach Smooth Muscle	stomach
49	chr7:48135200-48138400	Enhancers	Primary B cells from cord blood	blood
50	chr7:48135200-48139000	Weak transcription	Aorta	Aorta

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