Variant report

Variant	rs11983172
Chromosome Location	chr7:97595215-97595216
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	POLR2A	chr7:97587562-97595221	MCF10A-Er-Src	breast:	n/a	n/a
2	POLR2A	chr7:97594688-97595283	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:97593837-97595379	A549	lung:	n/a	n/a
4	POLR2A	chr7:97590431-97595529	K562	blood:	n/a	n/a
5	POLR2A	chr7:97594966-97595315	HepG2	liver:	n/a	n/a
6	POLR2A	chr7:97593716-97595707	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:97592453..97595469-chr7:97599396..97602015,3	K562	blood:
2	chr7:97590573..97595675-chr7:97595884..97599293,5	K562	blood:

Variant related genes	Relation type
MIR5692C2	TF binding region
ENSG00000183444	Chromatin interaction
ENSG00000243554	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 2 )

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

rs_ID	r²[population]
rs11977507	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13236364	0.86[AMR][1000 genomes]
rs28693815	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34573462	1.00[ASN][1000 genomes]
rs34759293	1.00[ASN][1000 genomes]
rs36017699	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7794912	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][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	nsv1031371	chr7:97312452-98070538	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv428178	chr7:97402756-97648029	Active TSS ZNF genes & repeats Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2758124	chr7:97476284-97648029	Strong transcription Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	esv2759546	chr7:97476284-97648029	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	esv1844775	chr7:97502740-97606178	Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	17 gene(s)	inside rSNPs	diseases
6	nsv970555	chr7:97502806-97639154	Enhancers Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	19 gene(s)	inside rSNPs	diseases
7	esv3500384	chr7:97527787-98015382	Flanking Active TSS Enhancers Bivalent/Poised TSS Weak transcription ZNF genes & repeats Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases
8	esv3500386	chr7:97527787-98015382	Bivalent Enhancer Flanking Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	36 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs11983172	AC004967.7	cis	Muscle Skeletal	GTEx
rs11983172	AC004967.8	cis	Muscle Skeletal	GTEx

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97573800-97600200	Weak transcription	Brain Inferior Temporal Lobe	brain
2	chr7:97574000-97600400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:97581000-97597800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:97581800-97598400	Weak transcription	Gastric	stomach
5	chr7:97582800-97596800	Weak transcription	Pancreas	Pancrea
6	chr7:97582800-97600600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:97584600-97600800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:97586200-97599400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr7:97589000-97595800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr7:97590000-97595600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
11	chr7:97590600-97595600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:97590600-97597200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr7:97591200-97598200	Weak transcription	Brain Cingulate Gyrus	brain
14	chr7:97591400-97600600	Weak transcription	Psoas Muscle	Psoas
15	chr7:97591400-97600600	Weak transcription	Right Ventricle	heart
16	chr7:97591800-97595400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
17	chr7:97591800-97597800	Weak transcription	NHEK	skin
18	chr7:97592000-97595400	Weak transcription	Left Ventricle	heart
19	chr7:97592000-97598600	Strong transcription	Adipose Nuclei	Adipose
20	chr7:97592000-97600400	Weak transcription	Fetal Heart	heart
21	chr7:97592000-97601000	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr7:97592400-97595400	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:97592400-97595800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
24	chr7:97592400-97596000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:97592400-97597400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr7:97592400-97600200	Weak transcription	HMEC	breast
27	chr7:97592600-97595600	Strong transcription	Stomach Smooth Muscle	stomach
28	chr7:97592600-97600200	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:97592800-97596600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr7:97592800-97596800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr7:97592800-97596800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
32	chr7:97593000-97600000	Weak transcription	HepG2	liver
33	chr7:97593000-97600200	Weak transcription	HUVEC	blood vessel
34	chr7:97593000-97600800	Weak transcription	Aorta	Aorta
35	chr7:97593200-97595800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
36	chr7:97593200-97596400	Strong transcription	Fetal Thymus	thymus
37	chr7:97593200-97598600	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr7:97593200-97599000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr7:97593200-97600400	Weak transcription	Fetal Brain Male	brain
40	chr7:97593200-97600600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:97593400-97596200	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr7:97593400-97599400	Strong transcription	Dnd41	blood
43	chr7:97593400-97599400	Weak transcription	Hela-S3	cervix
44	chr7:97593400-97600200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:97593400-97600200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:97593400-97600400	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr7:97593400-97600600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr7:97593600-97595600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr7:97593600-97595600	Strong transcription	Primary B cells from cord blood	blood
50	chr7:97593600-97598600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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