Variant report

Variant	rs567686457
Chromosome Location	chr7:65669449-65669450
allele	A/T
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	MXI1	chr7:65669396-65672418	IMR90	lung:	n/a	chr7:65669993-65670002 chr7:65670034-65670049 chr7:65670032-65670047
2	TBP	chr7:65669423-65669788	GM12878	blood:	n/a	n/a
3	RPC155	chr7:65669077-65669693	Hela-S3	cervix:	n/a	n/a
4	REST	chr7:65669286-65671224	H1-neurons	neurons:	n/a	chr7:65670936-65670949
5	RFX5	chr7:65669096-65673639	SK-N-SH	brain:	n/a	chr7:65670033-65670048 chr7:65670030-65670045 chr7:65670031-65670045 chr7:65670034-65670043 chr7:65670032-65670049 chr7:65670033-65670048 chr7:65670033-65670048
6	MTA3	chr7:65669431-65670027	GM12878	blood:	n/a	n/a
7	CTCF	chr7:65669441-65670751	A549	lung:	n/a	chr7:65669993-65670006 chr7:65670673-65670686 chr7:65669990-65670003
8	POLR2A	chr7:65669407-65670701	H1-neurons	neurons:	n/a	n/a
9	SREBP2	chr7:65669177-65670804	GM12878	blood:	n/a	n/a
10	PBX3	chr7:65669441-65670606	SK-N-SH	brain:	n/a	n/a
11	POLR2A	chr7:65669263-65669493	HepG2	liver:	n/a	n/a
12	POLR2A	chr7:65669392-65671122	H1-neurons	neurons:	n/a	n/a
13	MXI1	chr7:65669273-65673531	SK-N-SH	brain:	n/a	chr7:65669993-65670002 chr7:65670034-65670049 chr7:65670032-65670047

Variant related genes	Relation type
TPST1	TF binding region

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	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	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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 target site	116 gene(s)	inside rSNPs	diseases
4	esv3375675	chr7:65669142-65671690	Flanking Active TSS Bivalent/Poised TSS Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65660800-65669800	Weak transcription	Spleen	Spleen
2	chr7:65663600-65669600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:65663600-65669600	Weak transcription	HUES6 Cell Line	embryonic stem cell
4	chr7:65663800-65669600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr7:65664200-65669600	Weak transcription	HSMMtube	muscle
6	chr7:65665200-65669600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:65665200-65669600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr7:65665400-65669600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr7:65667600-65669600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:65667800-65669600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr7:65667800-65669600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr7:65669200-65669600	Enhancers	Primary B cells from peripheral blood	blood
13	chr7:65669400-65669600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
14	chr7:65669400-65669600	Flanking Bivalent TSS/Enh	iPS-15b Cell Line	embryonic stem cell
15	chr7:65669400-65669600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr7:65669400-65669600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr7:65669400-65669600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr7:65669400-65669600	Flanking Active TSS	Primary T cells from cord blood	blood
19	chr7:65669400-65669600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr7:65669400-65669600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
21	chr7:65669400-65669600	Enhancers	Primary T helper cells PMA-I stimulated	--
22	chr7:65669400-65669600	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
23	chr7:65669400-65669600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
24	chr7:65669400-65669600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr7:65669400-65669600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr7:65669400-65669600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr7:65669400-65669600	Enhancers	Brain Germinal Matrix	brain
28	chr7:65669400-65669600	Enhancers	Brain Hippocampus Middle	brain
29	chr7:65669400-65669600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
30	chr7:65669400-65669600	Enhancers	Brain Substantia Nigra	brain
31	chr7:65669400-65669600	Enhancers	Colon Smooth Muscle	Colon
32	chr7:65669400-65669600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
33	chr7:65669400-65669600	Enhancers	Duodenum Smooth Muscle	Duodenum
34	chr7:65669400-65669600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:65669400-65669600	Enhancers	Fetal Brain Male	brain
36	chr7:65669400-65669600	Enhancers	Fetal Heart	heart
37	chr7:65669400-65669600	Enhancers	Fetal Intestine Small	intestine
38	chr7:65669400-65669600	Enhancers	Fetal Muscle Leg	muscle
39	chr7:65669400-65669600	Enhancers	A549	lung
40	chr7:65669400-65669600	Flanking Active TSS	HepG2	liver
41	chr7:65669400-65669600	Enhancers	HMEC	breast
42	chr7:65669400-65669600	Enhancers	NH-A	brain
43	chr7:65669400-65669600	Enhancers	Osteobl	bone
44	chr7:65669400-65669800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr7:65669400-65669800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr7:65669400-65669800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr7:65669400-65669800	Flanking Active TSS	Stomach Mucosa	stomach
48	chr7:65669400-65670000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr7:65669400-65670000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr7:65669400-65670000	Flanking Active TSS	Primary B cells from cord blood	blood

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