Variant report

Variant	rs885566
Chromosome Location	chr7:99754637-99754638
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:49)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:49 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr7:99754400-99757236	SK-N-SH	brain:	n/a	n/a
2	POLR2A	chr7:99752644-99756881	HepG2	liver:	n/a	n/a
3	SPI1	chr7:99754359-99755087	HL-60	blood:	n/a	n/a
4	POLR2A	chr7:99754009-99756696	HL-60	blood:	n/a	n/a
5	POLR2A	chr7:99753500-99756680	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr7:99750175-99756739	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr7:99753920-99756786	SK-N-SH	brain:	n/a	n/a
8	POLR2A	chr7:99754079-99756586	GM12892	blood:	n/a	n/a
9	POLR2A	chr7:99753296-99756629	GM12878	blood:	n/a	n/a
10	REST	chr7:99754367-99755243	K562	blood:	n/a	n/a
11	HMGN3	chr7:99754450-99755358	K562	blood:	n/a	n/a
12	POLR2A	chr7:99754150-99755634	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:99754097-99756649	K562	blood:	n/a	n/a
14	ELF1	chr7:99754309-99754724	K562	blood:	n/a	chr7:99754508-99754521
15	POLR2A	chr7:99754592-99755845	PFSK-1	brain:	n/a	n/a
16	POLR2A	chr7:99753508-99756689	PANC-1	pancreas:	n/a	n/a
17	POLR2A	chr7:99754064-99755782	K562	blood:	n/a	n/a
18	POLR2A	chr7:99753385-99756681	K562	blood:	n/a	n/a
19	POLR2A	chr7:99753969-99756735	GM12892	blood:	n/a	n/a
20	POLR2A	chr7:99753269-99755707	GM12891	blood:	n/a	n/a
21	POLR2A	chr7:99754523-99756699	MCF-7	breast:	n/a	n/a
22	POLR2A	chr7:99754216-99755944	K562	blood:	n/a	n/a
23	POLR2A	chr7:99754567-99754830	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr7:99754505-99756719	GM12878	blood:	n/a	n/a
25	POLR2A	chr7:99754531-99754760	Hela-S3	cervix:	n/a	n/a
26	ELF1	chr7:99753745-99754716	GM12878	blood:	n/a	chr7:99754508-99754521
27	POLR2A	chr7:99749956-99756618	K562	blood:	n/a	n/a
28	ZBTB7A	chr7:99754252-99754639	K562	blood:	n/a	n/a
29	POLR2A	chr7:99749910-99757285	SK-N-MC	brain:	n/a	n/a
30	POLR2A	chr7:99753771-99756658	GM18505	blood:	n/a	n/a
31	POLR2A	chr7:99750585-99756760	K562	blood:	n/a	n/a
32	POLR2A	chr7:99753570-99755747	GM12878	blood:	n/a	n/a
33	POLR2A	chr7:99754518-99754951	GM12891	blood:	n/a	n/a
34	POLR2A	chr7:99752297-99756669	GM12878	blood:	n/a	n/a
35	MXI1	chr7:99754566-99756999	IMR90	lung:	n/a	n/a
36	POLR2A	chr7:99753599-99754643	K562	blood:	n/a	n/a
37	POLR2A	chr7:99753766-99755735	K562	blood:	n/a	n/a
38	TEAD4	chr7:99754634-99755743	K562	blood:	n/a	n/a
39	GABPA	chr7:99754240-99756744	K562	blood:	n/a	chr7:99756408-99756417 chr7:99756444-99756453 chr7:99756343-99756350
40	MAZ	chr7:99754301-99755819	K562	blood:	n/a	n/a
41	ELF1	chr7:99754331-99754746	K562	blood:	n/a	chr7:99754508-99754521
42	MTA3	chr7:99754269-99754847	GM12878	blood:	n/a	n/a
43	NR2F2	chr7:99754160-99757357	K562	blood:	n/a	n/a
44	POLR2A	chr7:99754429-99754842	GM12878	blood:	n/a	n/a
45	BCL3	chr7:99754632-99755636	A549	lung:	n/a	chr7:99754978-99754991
46	JUN	chr7:99753414-99755895	K562	blood:	n/a	chr7:99755520-99755533
47	POLR2A	chr7:99750041-99756801	K562	blood:	n/a	n/a
48	POLR2A	chr7:99752578-99756625	HL-60	blood:	n/a	n/a
49	TEAD4	chr7:99754188-99756089	K562	blood:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:99753295..99755968-chr7:99764966..99767548,3	K562	blood:
2	chr7:99696160..99700887-chr7:99753963..99757907,5	K562	blood:
3	chr7:99719816..99722577-chr7:99753597..99756581,3	K562	blood:
4	chr7:99750795..99756202-chr7:99762627..99766634,7	K562	blood:
5	chr7:99754046..99756900-chr7:100023826..100027525,3	MCF-7	breast:
6	chr7:99752857..99757651-chr7:99763240..99770051,14	MCF-7	breast:
7	chr7:99677781..99680960-chr7:99753334..99755747,3	K562	blood:
8	chr7:99754180..99757947-chr7:99773944..99778293,5	K562	blood:
9	chr7:99753605..99756389-chr7:100024404..100026585,2	MCF-7	breast:
10	chr7:99753966..99755669-chr7:99756075..99758782,2	MCF-7	breast:
11	chr7:99696898..99700086-chr7:99750657..99754674,4	MCF-7	breast:
12	chr7:99696142..99700081-chr7:99754300..99760427,7	MCF-7	breast:
13	chr7:99719091..99721941-chr7:99753666..99756777,4	MCF-7	breast:
14	chr7:99726058..99730231-chr7:99754511..99757895,5	MCF-7	breast:
15	chr7:99751463..99761050-chr7:99772463..99778676,10	K562	blood:
16	chr7:99754473..99757305-chr7:99763282..99766035,2	MCF-7	breast:
17	chr7:99696160..99699295-chr7:99753963..99757907,4	K562	blood:
18	chr7:99753430..99757124-chr7:99772344..99777147,8	MCF-7	breast:
19	chr7:99753476..99755824-chr7:99801511..99804012,2	MCF-7	breast:
20	chr7:99702646..99704565-chr7:99753499..99755583,2	K562	blood:
21	chr7:99752659..99755597-chr7:99969374..99971671,2	K562	blood:

No data

Variant related genes	Relation type
MIR4658	TF binding region
C7orf43	TF binding region
ENSG00000235077	Chromatin interaction
ENSG00000166997	Chromatin interaction
ENSG00000146834	Chromatin interaction
ENSG00000197093	Chromatin interaction
ENSG00000221838	Chromatin interaction
ENSG00000066923	Chromatin interaction
ENSG00000166508	Chromatin interaction
ENSG00000213420	Chromatin interaction
ENSG00000166526	Chromatin interaction
ENSG00000146826	Chromatin interaction
ENSG00000085514	Chromatin interaction
ENSG00000078487	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs4134891	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829865	chr7:99430678-99755141	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Genic enhancers 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 miRNA target site	1131 gene(s)	inside rSNPs	diseases
2	esv1830649	chr7:99430678-99755141	Strong transcription Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1131 gene(s)	inside rSNPs	diseases
3	nsv534298	chr7:99478011-99886076	Flanking Active TSS Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1132 gene(s)	inside rSNPs	diseases
4	nsv469687	chr7:99572543-99755141	Enhancers Strong transcription Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
5	nsv482601	chr7:99572543-99755141	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1115 gene(s)	inside rSNPs	diseases
6	nsv607931	chr7:99664817-99796146	Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1097 gene(s)	inside rSNPs	diseases
7	esv1798486	chr7:99689883-99930879	Active TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
8	esv1833059	chr7:99689883-99930879	Flanking Active TSS Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1085 gene(s)	inside rSNPs	diseases
9	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
10	nsv427794	chr7:99750981-99960900	Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
11	nsv428180	chr7:99750981-99960900	Weak transcription Enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
12	nsv888773	chr7:99751594-99772298	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs885566	COPS6	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:99747400-99755200	Weak transcription	Psoas Muscle	Psoas
2	chr7:99747400-99755600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:99748000-99755200	Genic enhancers	Primary T cells fromperipheralblood	blood
4	chr7:99749200-99755000	Genic enhancers	Fetal Intestine Large	intestine
5	chr7:99749400-99754800	Genic enhancers	Fetal Intestine Small	intestine
6	chr7:99749400-99754800	Strong transcription	Skeletal Muscle Male	skeletal muscle
7	chr7:99750000-99754800	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr7:99750200-99754800	Strong transcription	Placenta Amnion	Placenta Amnion
9	chr7:99750600-99755200	Genic enhancers	Sigmoid Colon	Sigmoid Colon
10	chr7:99750800-99754800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr7:99751000-99754800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr7:99751000-99755200	Genic enhancers	Gastric	stomach
13	chr7:99751200-99754800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr7:99751400-99755000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr7:99751600-99755200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr7:99751600-99755200	Weak transcription	Small Intestine	intestine
17	chr7:99752600-99754800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
18	chr7:99752800-99754800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr7:99753000-99754800	Strong transcription	Brain Cingulate Gyrus	brain
20	chr7:99753000-99754800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 31	rectum
21	chr7:99753000-99755000	Genic enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr7:99753000-99755000	Genic enhancers	Colonic Mucosa	Colon
23	chr7:99753200-99754800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
24	chr7:99753200-99754800	Genic enhancers	Primary T killer naive cells fromperipheralblood	blood
25	chr7:99753400-99754800	Genic enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:99753400-99754800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
27	chr7:99753400-99755200	Enhancers	Stomach Mucosa	stomach
28	chr7:99753600-99755400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
29	chr7:99753800-99755000	Genic enhancers	H1 Cell Line	embryonic stem cell
30	chr7:99753800-99755000	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:99753800-99755000	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
32	chr7:99753800-99755000	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
33	chr7:99753800-99755200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr7:99753800-99755200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr7:99753800-99755200	Genic enhancers	Primary B cells from peripheral blood	blood
36	chr7:99753800-99755200	Genic enhancers	Fetal Muscle Trunk	muscle
37	chr7:99754000-99755000	Genic enhancers	Liver	Liver
38	chr7:99754000-99755200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr7:99754000-99755200	Genic enhancers	Lung	lung
40	chr7:99754000-99755200	Genic enhancers	Thymus	Thymus
41	chr7:99754000-99755400	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:99754000-99755600	Weak transcription	Ovary	ovary
43	chr7:99754200-99754800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr7:99754200-99754800	Transcr. at gene 5' and 3'	Primary neutrophils fromperipheralblood	blood
45	chr7:99754200-99754800	Genic enhancers	Muscle Satellite Cultured Cells	--
46	chr7:99754200-99754800	Genic enhancers	Stomach Smooth Muscle	stomach
47	chr7:99754200-99754800	Genic enhancers	HMEC	breast
48	chr7:99754200-99754800	Genic enhancers	HSMM	muscle
49	chr7:99754200-99754800	Weak transcription	HSMMtube	muscle
50	chr7:99754200-99754800	Enhancers	NH-A	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links