Variant report

Variant	rs316336
Chromosome Location	chr7:65545329-65545330
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	chr7:65544752..65547246-chr7:65554912..65556822,2	MCF-7	breast:
2	chr7:65544436..65546414-chr7:65546481..65549071,2	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs160636	0.81[EUR][1000 genomes]
rs160645	0.83[EUR][1000 genomes]
rs160647	0.83[EUR][1000 genomes]
rs2946580	0.83[EUR][1000 genomes]
rs313828	0.83[EUR][1000 genomes]
rs313830	0.83[EUR][1000 genomes]
rs400767	0.83[EUR][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	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
2	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
3	nsv888325	chr7:65474919-65575893	Active TSS Flanking Active TSS Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1021186	chr7:65492601-65663438	Active TSS Strong transcription Genic enhancers Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv984546	chr7:65531382-65556631	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs316336	GTF2IRD1P1	cis	Thyroid	GTEx
rs316336	GS1-124K5.11	cis	Thyroid	GTEx
rs316336	RP4-756H11.3	cis	Muscle Skeletal	GTEx
rs316336	GS1-124K5.4	cis	Stomach	GTEx
rs316336	GS1-124K5.4	cis	Artery Aorta	GTEx
rs316336	RNU6-96P	cis	Thyroid	GTEx
rs316336	GS1-124K5.4	cis	Esophagus Mucosa	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65541600-65549600	Weak transcription	Thymus	Thymus
2	chr7:65541600-65565000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:65541800-65546600	Weak transcription	Primary T cells from cord blood	blood
4	chr7:65541800-65551000	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr7:65541800-65554200	Weak transcription	HSMMtube	muscle
6	chr7:65541800-65556800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr7:65541800-65564600	Weak transcription	HUES48 Cell Line	embryonic stem cell
8	chr7:65541800-65564600	Weak transcription	Fetal Brain Female	brain
9	chr7:65541800-65564800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
10	chr7:65542000-65545600	Weak transcription	Brain Inferior Temporal Lobe	brain
11	chr7:65542000-65546000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr7:65542000-65546600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr7:65542000-65546600	Weak transcription	Fetal Muscle Leg	muscle
14	chr7:65542000-65546800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr7:65542000-65546800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr7:65542000-65546800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:65542000-65546800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr7:65542000-65546800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr7:65542000-65547200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr7:65542000-65547200	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:65542000-65547200	Weak transcription	Brain Substantia Nigra	brain
22	chr7:65542000-65547800	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr7:65542000-65547800	Weak transcription	Fetal Lung	lung
24	chr7:65542000-65550800	Weak transcription	Brain Germinal Matrix	brain
25	chr7:65542000-65552000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr7:65542000-65553400	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr7:65542000-65553600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr7:65542000-65554400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr7:65542000-65559600	Weak transcription	Psoas Muscle	Psoas
30	chr7:65542000-65564600	Weak transcription	Primary B cells from cord blood	blood
31	chr7:65542000-65564800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr7:65542000-65564800	Weak transcription	Aorta	Aorta
33	chr7:65542000-65564800	Weak transcription	HSMM	muscle
34	chr7:65542200-65545600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr7:65542200-65545800	Weak transcription	Brain Hippocampus Middle	brain
36	chr7:65542200-65546400	Weak transcription	Brain Anterior Caudate	brain
37	chr7:65542200-65546600	Weak transcription	A549	lung
38	chr7:65542200-65546800	Weak transcription	NHEK	skin
39	chr7:65542200-65546800	Weak transcription	NHLF	lung
40	chr7:65542200-65547200	Weak transcription	Brain Cingulate Gyrus	brain
41	chr7:65542200-65547200	Weak transcription	Placenta Amnion	Placenta Amnion
42	chr7:65542200-65547400	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr7:65542200-65547800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr7:65542200-65548800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr7:65542200-65550200	Weak transcription	Colon Smooth Muscle	Colon
46	chr7:65542200-65551200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:65542200-65551800	Weak transcription	Muscle Satellite Cultured Cells	--
48	chr7:65542200-65552000	Weak transcription	HUVEC	blood vessel
49	chr7:65542200-65556000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr7:65542200-65564600	Weak transcription	iPS-20b Cell Line	embryonic stem cell

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links