Variant report

Variant	rs852481
Chromosome Location	chr7:5637725-5637726
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	TBL1XR1	chr7:5637687-5638014	K562	blood:	n/a	n/a
2	POLR2A	chr7:5637613-5638390	H1-hESC	embryonic stem cell:	n/a	n/a
3	POLR2A	chr7:5637211-5639498	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr7:5637557-5638908	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr7:5637379-5639819	GM12892	blood:	n/a	n/a
6	POLR2A	chr7:5637542-5637917	H1-neurons	neurons:	n/a	n/a
7	POLR2A	chr7:5637526-5639628	GM12878	blood:	n/a	n/a
8	MYC	chr7:5637575-5639059	K562	blood:	n/a	chr7:5638083-5638092 chr7:5638091-5638100
9	POLR2A	chr7:5637304-5639803	K562	blood:	n/a	n/a
10	POLR2A	chr7:5637526-5637989	GM12891	blood:	n/a	n/a
11	MAX	chr7:5637719-5639153	K562	blood:	n/a	chr7:5638083-5638092 chr7:5638091-5638100
12	POLR2A	chr7:5637562-5638225	GM12878	blood:	n/a	n/a
13	POLR2A	chr7:5637367-5640337	GM12878	blood:	n/a	n/a
14	NR2F2	chr7:5637691-5639153	K562	blood:	n/a	n/a
15	POLR2A	chr7:5637413-5638701	H1-hESC	embryonic stem cell:	n/a	n/a
16	POLR2A	chr7:5637398-5638722	H1-hESC	embryonic stem cell:	n/a	n/a
17	ZMIZ1	chr7:5637433-5637835	K562	blood:	n/a	n/a
18	POLR2A	chr7:5637303-5639725	K562	blood:	n/a	n/a
19	MTA3	chr7:5637709-5638706	GM12878	blood:	n/a	n/a
20	PML	chr7:5637624-5639139	K562	blood:	n/a	n/a
21	POLR2A	chr7:5637449-5639185	K562	blood:	n/a	n/a
22	POLR2A	chr7:5637629-5638130	H1-neurons	neurons:	n/a	n/a
23	NFATC1	chr7:5637638-5638117	GM12878	blood:	n/a	n/a
24	UBTF	chr7:5637403-5638819	K562	blood:	n/a	n/a
25	POLR2A	chr7:5637343-5639771	K562	blood:	n/a	n/a
26	MYC	chr7:5637715-5639114	K562	blood:	n/a	chr7:5638083-5638092 chr7:5638091-5638100
27	POLR2A	chr7:5637656-5638816	PANC-1	pancreas:	n/a	n/a
28	ZBTB7A	chr7:5637384-5637955	K562	blood:	n/a	n/a
29	TEAD4	chr7:5637442-5639030	K562	blood:	n/a	n/a
30	POLR2A	chr7:5637357-5639626	GM12892	blood:	n/a	n/a
31	POLR2A	chr7:5637600-5638336	SK-N-SH	brain:	n/a	n/a
32	MAZ	chr7:5637394-5639165	K562	blood:	n/a	chr7:5638083-5638092 chr7:5638091-5638100
33	POLR2A	chr7:5637238-5638157	K562	blood:	n/a	n/a
34	ZNF263	chr7:5637383-5638615	K562	blood:	n/a	chr7:5637467-5637476
35	POLR2A	chr7:5637458-5639226	GM12878	blood:	n/a	n/a
36	POLR2A	chr7:5637329-5638898	PANC-1	pancreas:	n/a	n/a
37	POLR2A	chr7:5637521-5638182	GM12891	blood:	n/a	n/a
38	POLR2A	chr7:5637621-5639234	GM12878	blood:	n/a	n/a
39	POLR2A	chr7:5637681-5638405	GM12892	blood:	n/a	n/a
40	POLR2A	chr7:5637301-5639851	GM12878	blood:	n/a	n/a
41	POLR2A	chr7:5637539-5639146	K562	blood:	n/a	n/a
42	POLR2A	chr7:5637611-5638007	GM12878	blood:	n/a	n/a
43	POLR2A	chr7:5637497-5639744	GM12892	blood:	n/a	n/a
44	YY1	chr7:5637725-5638217	K562	blood:	n/a	chr7:5637956-5637964
45	POLR2A	chr7:5637423-5639596	K562	blood:	n/a	n/a
46	ZNF263	chr7:5637409-5638347	HEK293-T-REx	kidney:	n/a	chr7:5637467-5637476
47	POLR2A	chr7:5637584-5637929	H1-hESC	embryonic stem cell:	n/a	n/a
48	POLR2A	chr7:5637482-5638906	K562	blood:	n/a	n/a
49	POLR2A	chr7:5637301-5639802	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:26213863..26216212-chr7:5636879..5638961,2	K562	blood:
2	chr7:5551336..5555391-chr7:5631153..5637818,11	K562	blood:
3	chr7:5531779..5533784-chr7:5636473..5638902,3	K562	blood:
4	chr7:5456394..5459483-chr7:5636546..5638479,3	K562	blood:
5	chr7:5578292..5581169-chr7:5636207..5637791,2	K562	blood:
6	chr7:5637430..5639674-chr7:5702754..5705008,2	K562	blood:
7	chr7:5563317..5574038-chr7:5630450..5643029,58	K562	blood:
8	chr7:5464118..5465697-chr7:5637454..5640085,2	K562	blood:
9	chr7:5637583..5639274-chr7:5662917..5664580,2	MCF-7	breast:

Variant related genes	Relation type
FSCN1	TF binding region
ENSG00000272953	Chromatin interaction
ENSG00000075624	Chromatin interaction
ENSG00000263900	Chromatin interaction
ENSG00000188365	Chromatin interaction
ENSG00000182095	Chromatin interaction
ENSG00000155034	Chromatin interaction
ENSG00000241269	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1640238	0.82[ASN][1000 genomes]
rs1640240	0.82[ASN][1000 genomes]
rs1725182	0.82[ASN][1000 genomes]
rs2966446	0.82[ASN][1000 genomes]
rs852484	0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv869165	chr7:4889618-5799719	Weak transcription Genic enhancers Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	352 gene(s)	inside rSNPs	diseases
2	nsv530979	chr7:5101631-5864814	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
3	nsv530981	chr7:5157150-5920006	Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases
4	esv1814049	chr7:5314993-5675131	Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	333 gene(s)	inside rSNPs	diseases
5	esv1820266	chr7:5332088-5665173	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
6	nsv530983	chr7:5370746-6070852	Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	368 gene(s)	inside rSNPs	diseases
7	nsv887404	chr7:5402606-5667645	Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
8	nsv916391	chr7:5417945-5889565	Flanking Active TSS Enhancers ZNF genes & repeats Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	336 gene(s)	inside rSNPs	diseases
9	nsv887408	chr7:5432672-5667645	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	331 gene(s)	inside rSNPs	diseases
10	nsv830890	chr7:5464933-5705158	Flanking Active TSS Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
11	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
12	nsv1025434	chr7:5537571-5705283	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
13	nsv482449	chr7:5557585-5743673	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	294 gene(s)	inside rSNPs	diseases
14	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
15	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
16	nsv887414	chr7:5584934-5667645	Flanking Bivalent TSS/Enh Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
17	nsv887415	chr7:5584934-5675305	Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
18	nsv887416	chr7:5584934-5695259	Genic enhancers Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
19	nsv530467	chr7:5617816-5815082	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
20	nsv1017612	chr7:5629728-5819144	Genic enhancers Weak transcription Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
21	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:5634400-5639600	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr7:5634800-5640200	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr7:5635600-5639400	Enhancers	Spleen	Spleen
4	chr7:5635800-5642800	Weak transcription	Aorta	Aorta
5	chr7:5636000-5639800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr7:5636200-5639200	Enhancers	Fetal Brain Male	brain
7	chr7:5636200-5639600	Enhancers	H1 Cell Line	embryonic stem cell
8	chr7:5636200-5642600	Weak transcription	HepG2	liver
9	chr7:5636200-5662000	Weak transcription	Fetal Kidney	kidney
10	chr7:5636400-5637800	Weak transcription	Left Ventricle	heart
11	chr7:5636400-5638200	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr7:5636400-5638600	Enhancers	Stomach Smooth Muscle	stomach
13	chr7:5636400-5638800	Enhancers	Fetal Lung	lung
14	chr7:5636400-5639000	Enhancers	Adipose Nuclei	Adipose
15	chr7:5636400-5639000	Genic enhancers	Fetal Muscle Leg	muscle
16	chr7:5636400-5639600	Genic enhancers	Fetal Stomach	stomach
17	chr7:5636400-5639600	Enhancers	Ovary	ovary
18	chr7:5636400-5639800	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:5636400-5640200	Enhancers	Breast Myoepithelial Primary Cells	Breast
20	chr7:5636400-5642600	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:5636600-5637800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
22	chr7:5636600-5637800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr7:5636600-5637800	Weak transcription	Right Atrium	heart
24	chr7:5636600-5637800	Enhancers	NH-A	brain
25	chr7:5636600-5638000	Genic enhancers	HUES64 Cell Line	embryonic stem cell
26	chr7:5636600-5638000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:5636600-5638000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr7:5636600-5638000	Weak transcription	Monocytes-CD14+_RO01746	blood
29	chr7:5636600-5638200	Weak transcription	Primary monocytes fromperipheralblood	blood
30	chr7:5636600-5638200	Weak transcription	Duodenum Mucosa	Duodenum
31	chr7:5636600-5638400	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr7:5636600-5639200	Enhancers	Colonic Mucosa	Colon
33	chr7:5636600-5639200	Genic enhancers	Osteobl	bone
34	chr7:5636600-5639600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
35	chr7:5636600-5640000	Genic enhancers	Fetal Muscle Trunk	muscle
36	chr7:5636600-5643400	Weak transcription	Pancreas	Pancrea
37	chr7:5636600-5661400	Weak transcription	Rectal Smooth Muscle	rectum
38	chr7:5636800-5637800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr7:5636800-5637800	Weak transcription	HUES48 Cell Line	embryonic stem cell
40	chr7:5636800-5637800	Genic enhancers	HUES6 Cell Line	embryonic stem cell
41	chr7:5636800-5637800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr7:5636800-5637800	Enhancers	Brain Hippocampus Middle	brain
43	chr7:5636800-5637800	Genic enhancers	HMEC	breast
44	chr7:5636800-5638000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr7:5636800-5638000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr7:5636800-5638000	Enhancers	Brain Cingulate Gyrus	brain
47	chr7:5636800-5638000	Weak transcription	Gastric	stomach
48	chr7:5636800-5638200	Genic enhancers	HUVEC	blood vessel
49	chr7:5636800-5638400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr7:5636800-5639000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell

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