Variant report

Variant	rs34573462
Chromosome Location	chr7:97594527-97594528
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:27)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:27 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr7:97593617-97594673	GM12892	blood:	n/a	n/a
2	POLR2A	chr7:97593876-97595146	GM12892	blood:	n/a	n/a
3	POLR2A	chr7:97590382-97595104	Hela-S3	cervix:	n/a	n/a
4	POLR2A	chr7:97593903-97594565	HepG2	liver:	n/a	n/a
5	POLR2A	chr7:97587562-97595221	MCF10A-Er-Src	breast:	n/a	n/a
6	POLR2A	chr7:97593739-97595109	GM12891	blood:	n/a	n/a
7	POLR2A	chr7:97590382-97594623	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr7:97593729-97595130	GM12878	blood:	n/a	n/a
9	POLR2A	chr7:97593837-97595379	A549	lung:	n/a	n/a
10	POLR2A	chr7:97593570-97594553	PFSK-1	brain:	n/a	n/a
11	POLR2A	chr7:97594220-97595008	GM12891	blood:	n/a	n/a
12	POLR2A	chr7:97590431-97595529	K562	blood:	n/a	n/a
13	POLR2A	chr7:97593411-97595068	GM12878	blood:	n/a	n/a
14	POLR2A	chr7:97593243-97595125	GM12892	blood:	n/a	n/a
15	POLR2A	chr7:97594325-97595067	GM12891	blood:	n/a	n/a
16	POLR2A	chr7:97593716-97595707	GM12892	blood:	n/a	n/a
17	POLR2A	chr7:97593828-97595085	K562	blood:	n/a	n/a
18	POLR2A	chr7:97593657-97595063	GM12891	blood:	n/a	n/a
19	POLR2A	chr7:97592966-97595016	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr7:97593968-97594589	SK-N-SH	brain:	n/a	n/a
21	POLR2A	chr7:97592480-97595061	K562	blood:	n/a	n/a
22	POLR2A	chr7:97587702-97595211	MCF10A-Er-Src	breast:	n/a	n/a
23	POLR2A	chr7:97592592-97594667	GM18505	blood:	n/a	n/a
24	TCF3	chr7:97594347-97594800	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:97594339-97594562	GM12878	blood:	n/a	n/a
26	POLR2A	chr7:97591734-97595056	PANC-1	pancreas:	n/a	n/a
27	POLR2A	chr7:97594260-97594723	HL-60	blood:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:97591972..97594579-chr7:97599900..97601644,2	MCF-7	breast:
2	chr7:97592453..97595469-chr7:97599396..97602015,3	K562	blood:
3	chr7:97590573..97595675-chr7:97595884..97599293,5	K562	blood:

No data

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

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs11983172	1.00[ASN][1000 genomes]
rs28693815	1.00[ASN][1000 genomes]
rs34759293	1.00[ASN][1000 genomes]
rs36017699	1.00[ASN][1000 genomes]
rs7794912	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
rs34573462	AC004967.8	cis	Muscle Skeletal	GTEx
rs34573462	AC004967.7	cis	Muscle Skeletal	GTEx

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:97563600-97595200	Weak transcription	Lung	lung
2	chr7:97573800-97600200	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr7:97574000-97600400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:97581000-97597800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr7:97581800-97598400	Weak transcription	Gastric	stomach
6	chr7:97582800-97596800	Weak transcription	Pancreas	Pancrea
7	chr7:97582800-97600600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr7:97584600-97600800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr7:97586200-97599400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
10	chr7:97586400-97594600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr7:97589000-97595800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:97589200-97595000	Weak transcription	Brain Angular Gyrus	brain
13	chr7:97590000-97595600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
14	chr7:97590400-97594600	ZNF genes & repeats	Fetal Brain Female	brain
15	chr7:97590400-97594800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
16	chr7:97590600-97595600	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr7:97590600-97597200	Weak transcription	HUES6 Cell Line	embryonic stem cell
18	chr7:97591200-97598200	Weak transcription	Brain Cingulate Gyrus	brain
19	chr7:97591400-97600600	Weak transcription	Psoas Muscle	Psoas
20	chr7:97591400-97600600	Weak transcription	Right Ventricle	heart
21	chr7:97591600-97594600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr7:97591600-97594600	Weak transcription	A549	lung
23	chr7:97591800-97595400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
24	chr7:97591800-97597800	Weak transcription	NHEK	skin
25	chr7:97592000-97595400	Weak transcription	Left Ventricle	heart
26	chr7:97592000-97598600	Strong transcription	Adipose Nuclei	Adipose
27	chr7:97592000-97600400	Weak transcription	Fetal Heart	heart
28	chr7:97592000-97601000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr7:97592200-97594800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:97592200-97594800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:97592400-97594800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr7:97592400-97594800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr7:97592400-97595000	ZNF genes & repeats	Primary T cells from cord blood	blood
34	chr7:97592400-97595400	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr7:97592400-97595800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
36	chr7:97592400-97596000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
37	chr7:97592400-97597400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:97592400-97600200	Weak transcription	HMEC	breast
39	chr7:97592600-97595600	Strong transcription	Stomach Smooth Muscle	stomach
40	chr7:97592600-97600200	Weak transcription	Cortex derived primary cultured neurospheres	brain
41	chr7:97592800-97594800	Weak transcription	Placenta	Placenta
42	chr7:97592800-97596600	Strong transcription	Primary T helper cells PMA-I stimulated	--
43	chr7:97592800-97596800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr7:97592800-97596800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr7:97593000-97594600	Weak transcription	Thymus	Thymus
46	chr7:97593000-97594800	Weak transcription	HUES64 Cell Line	embryonic stem cell
47	chr7:97593000-97594800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr7:97593000-97600000	Weak transcription	HepG2	liver
49	chr7:97593000-97600200	Weak transcription	HUVEC	blood vessel
50	chr7:97593000-97600800	Weak transcription	Aorta	Aorta

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