Variant report

Variant	rs7516129
Chromosome Location	chr1:9771789-9771790
allele	A/C
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	BHLHE40	chr1:9771718-9771939	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:9770372..9773017-chr1:9773023..9774905,2	K562	blood:

Variant related genes	Relation type
PIK3CD	TF binding region

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2230735	0.87[EUR][1000 genomes];0.96[ASN][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	esv3385337	chr1:9105242-10082223	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	549 gene(s)	inside rSNPs	diseases
2	nsv871610	chr1:9655795-10008221	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	esv3417409	chr1:9683992-10241703	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
4	nsv832203	chr1:9726632-9860209	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 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	chr1:9750600-9775800	Weak transcription	Pancreas	Pancrea
2	chr1:9750600-9813000	Weak transcription	Right Atrium	heart
3	chr1:9750800-9775400	Weak transcription	Gastric	stomach
4	chr1:9751000-9775600	Weak transcription	Esophagus	oesophagus
5	chr1:9751000-9777600	Weak transcription	Colon Smooth Muscle	Colon
6	chr1:9751000-9779800	Weak transcription	Brain Cingulate Gyrus	brain
7	chr1:9752000-9774000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:9752400-9776000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr1:9761000-9773200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:9761000-9779000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr1:9761000-9781600	Weak transcription	HSMMtube	muscle
12	chr1:9761200-9773400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr1:9761200-9774400	Weak transcription	Lung	lung
14	chr1:9761200-9775600	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr1:9761400-9774000	Weak transcription	HUES6 Cell Line	embryonic stem cell
16	chr1:9761400-9774000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr1:9761400-9777200	Weak transcription	Sigmoid Colon	Sigmoid Colon
18	chr1:9761400-9778000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr1:9763200-9782400	Weak transcription	Brain Hippocampus Middle	brain
20	chr1:9764000-9774600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr1:9764600-9777000	Weak transcription	Liver	Liver
22	chr1:9765000-9776400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr1:9765400-9776400	Weak transcription	Placenta	Placenta
24	chr1:9765600-9772000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr1:9765800-9773200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr1:9766000-9776200	Weak transcription	NHLF	lung
27	chr1:9766000-9777200	Weak transcription	HMEC	breast
28	chr1:9766000-9778800	Weak transcription	NHDF-Ad	bronchial
29	chr1:9766000-9779000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:9766000-9779000	Weak transcription	Osteobl	bone
31	chr1:9766200-9772000	Strong transcription	Primary B cells from cord blood	blood
32	chr1:9766200-9779000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:9767000-9775400	Genic enhancers	Primary T cells fromperipheralblood	blood
34	chr1:9768200-9774000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr1:9768400-9775200	Weak transcription	Fetal Stomach	stomach
36	chr1:9768400-9775600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr1:9768400-9776200	Strong transcription	Monocytes-CD14+_RO01746	blood
38	chr1:9768600-9787400	Weak transcription	Left Ventricle	heart
39	chr1:9768800-9777200	Weak transcription	Rectal Smooth Muscle	rectum
40	chr1:9769000-9773200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
41	chr1:9769200-9783600	Weak transcription	Brain Angular Gyrus	brain
42	chr1:9769600-9772000	Strong transcription	Primary hematopoietic stem cells	blood
43	chr1:9769600-9774800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
44	chr1:9769600-9775600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr1:9769600-9777000	Weak transcription	Right Ventricle	heart
46	chr1:9770000-9772000	Strong transcription	Adipose Nuclei	Adipose
47	chr1:9770000-9772000	Strong transcription	Aorta	Aorta
48	chr1:9770000-9772000	Strong transcription	GM12878-XiMat	blood
49	chr1:9770000-9773400	Weak transcription	HUES64 Cell Line	embryonic stem cell
50	chr1:9770000-9774200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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