Variant report

Variant	rs17133984
Chromosome Location	chr7:50779247-50779248
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr7:50779078-50779274	Hela-S3	cervix:	n/a	n/a
2	FOS	chr7:50779066-50779377	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr7:50779110-50779405	Hela-S3	cervix:	n/a	n/a
4	MYC	chr7:50779133-50779279	MCF10A-Er-Src	breast:	n/a	n/a
5	POLR2A	chr7:50779066-50779286	K562	blood:	n/a	n/a
6	FOS	chr7:50779145-50779333	MCF10A-Er-Src	breast:	n/a	n/a
7	TCF7L2	chr7:50778963-50779383	Hela-S3	cervix:	n/a	n/a
8	POLR2A	chr7:50779171-50779258	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr7:50771946..50774688-chr7:50777766..50780192,2	K562	blood:
2	chr7:50771946..50774257-chr7:50776696..50780294,3	K562	blood:
3	chr7:50775453..50778536-chr7:50778993..50781858,3	MCF-7	breast:

Variant related genes	Relation type
GRB10	TF binding region
ENSG00000106070	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs2108351	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2158918	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2282930	0.89[AFR][1000 genomes]
rs2529398	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2529401	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2529406	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2715099	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2715101	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2715106	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2715122	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2715124	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2715136	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2715137	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61635288	0.89[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016665	chr7:50452552-51404524	Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
2	nsv1031138	chr7:50651793-50814881	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:50742600-50792000	Weak transcription	Primary T cells from cord blood	blood
2	chr7:50758800-50779400	Weak transcription	Fetal Kidney	kidney
3	chr7:50763400-50806800	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr7:50766400-50779800	Weak transcription	Brain Germinal Matrix	brain
5	chr7:50766400-50783200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr7:50766400-50785800	Weak transcription	Small Intestine	intestine
7	chr7:50770600-50779600	Weak transcription	Primary hematopoietic stem cells	blood
8	chr7:50770600-50779600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr7:50771400-50779600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr7:50771600-50780200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr7:50772000-50791600	Weak transcription	K562	blood
12	chr7:50773000-50780400	Weak transcription	Fetal Brain Female	brain
13	chr7:50773000-50780800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr7:50773000-50781200	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr7:50773000-50789200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr7:50773000-50807400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:50773600-50788600	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr7:50773800-50786600	Weak transcription	HUES64 Cell Line	embryonic stem cell
19	chr7:50774200-50779800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr7:50774400-50779800	Enhancers	Lung	lung
21	chr7:50774400-50780200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
22	chr7:50774600-50781000	Weak transcription	Aorta	Aorta
23	chr7:50774600-50782400	Weak transcription	HMEC	breast
24	chr7:50774800-50789200	Weak transcription	NHLF	lung
25	chr7:50776400-50786000	Weak transcription	HUVEC	blood vessel
26	chr7:50776800-50779400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:50776800-50781200	Weak transcription	Stomach Mucosa	stomach
28	chr7:50777000-50779400	Genic enhancers	Cortex derived primary cultured neurospheres	brain
29	chr7:50777000-50780200	Weak transcription	Duodenum Mucosa	Duodenum
30	chr7:50777000-50781800	Enhancers	Psoas Muscle	Psoas
31	chr7:50777200-50779800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
32	chr7:50777200-50780800	Weak transcription	Gastric	stomach
33	chr7:50777400-50780000	Weak transcription	Fetal Muscle Leg	muscle
34	chr7:50777600-50780000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:50777600-50781200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr7:50777600-50792600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr7:50777800-50780800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr7:50778000-50781600	Enhancers	Colon Smooth Muscle	Colon
39	chr7:50778400-50779600	Weak transcription	Brain Anterior Caudate	brain
40	chr7:50778400-50780000	Enhancers	Pancreas	Pancrea
41	chr7:50778400-50780200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr7:50778400-50781000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr7:50778400-50781200	Enhancers	Duodenum Smooth Muscle	Duodenum
44	chr7:50778400-50781800	Enhancers	Liver	Liver
45	chr7:50778400-50784000	Enhancers	Left Ventricle	heart
46	chr7:50778400-50789000	Weak transcription	HUES6 Cell Line	embryonic stem cell
47	chr7:50778600-50779400	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr7:50778600-50781200	Enhancers	HSMMtube	muscle
49	chr7:50778600-50781800	Enhancers	Fetal Heart	heart
50	chr7:50778600-50785600	Weak transcription	Fetal Intestine Small	intestine

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