Variant report

Variant	rs7914646
Chromosome Location	chr10:49816189-49816190
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:39)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:39 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr10:49816175-49816486	H1-hESC	embryonic stem cell:	n/a	n/a
2	RAD21	chr10:49816160-49816655	H1-hESC	embryonic stem cell:	n/a	chr10:49816607-49816617
3	CTCF	chr10:49816130-49816547	K562	blood:	n/a	n/a
4	CTCF	chr10:49816186-49816536	SK-N-SH_RA	brain:	n/a	n/a
5	CTCF	chr10:49816180-49816550	GM12878	blood:	n/a	n/a
6	POLR2A	chr10:49812449-49816604	U87	brain:	n/a	n/a
7	CTCF	chr10:49816158-49816597	GM12878	blood:	n/a	n/a
8	RAD21	chr10:49816157-49816591	SK-N-SH_RA	brain:	n/a	n/a
9	POLR2A	chr10:49812107-49816612	IMR90	lung:	n/a	n/a
10	CTCF	chr10:49815994-49816776	SK-N-SH	brain:	n/a	n/a
11	RAD21	chr10:49816171-49816568	IMR90	lung:	n/a	n/a
12	CTCF	chr10:49816125-49816658	K562	blood:	n/a	n/a
13	RAD21	chr10:49816126-49816541	A549	lung:	n/a	n/a
14	CTCF	chr10:49816021-49816720	HCT-116	colon:	n/a	n/a
15	RAD21	chr10:49816130-49816664	MCF-7	breast:	n/a	chr10:49816607-49816617
16	SMC3	chr10:49816149-49816593	GM12878	blood:	n/a	n/a
17	RAD21	chr10:49816171-49816517	GM12878	blood:	n/a	n/a
18	POLR2A	chr10:49813724-49816523	HUVEC	blood vessel:	n/a	n/a
19	CTCF	chr10:49816155-49816592	H1-hESC	embryonic stem cell:	n/a	n/a
20	SMC3	chr10:49815485-49816713	SK-N-SH	brain:	n/a	n/a
21	CTCF	chr10:49816065-49816660	MCF-7	breast:	n/a	n/a
22	RAD21	chr10:49815964-49816844	SK-N-SH	brain:	n/a	chr10:49816607-49816617
23	CTCF	chr10:49816184-49816519	ECC-1	luminal epithelium:	n/a	n/a
24	CTCF	chr10:49815927-49816676	A549	lung:	n/a	n/a
25	CTCF	chr10:49816151-49816560	K562	blood:	n/a	n/a
26	CTCF	chr10:49816162-49816484	ECC-1	luminal epithelium:	n/a	n/a
27	RAD21	chr10:49816183-49816531	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr10:49811435-49816856	U87	brain:	n/a	n/a
29	CTCF	chr10:49816140-49816290	HAc	cerebellar:	n/a	n/a
30	CTCF	chr10:49816129-49816566	H1-hESC	embryonic stem cell:	n/a	n/a
31	POLR2A	chr10:49803668-49816856	U87	brain:	n/a	n/a
32	CTCF	chr10:49816149-49816603	A549	lung:	n/a	n/a
33	RAD21	chr10:49816168-49816672	HCT-116	colon:	n/a	chr10:49816607-49816617
34	CTCF	chr10:49816126-49816512	K562	blood:	n/a	n/a
35	MAZ	chr10:49814161-49816724	IMR90	lung:	n/a	n/a
36	RAD21	chr10:49816146-49816615	ECC-1	luminal epithelium:	n/a	n/a
37	POLR2A	chr10:49809760-49816604	U87	brain:	n/a	n/a
38	CTCF	chr10:49816121-49816573	IMR90	lung:	n/a	n/a
39	RAD21	chr10:49816142-49816581	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:49815980..49816521-chr5:30063610..30064465,2	MCF-7	breast:
2	chr10:49815515..49817850-chr10:49821567..49823368,2	K562	blood:
3	chr10:49759598..49760543-chr10:49815964..49816843,2	MCF-7	breast:
4	chr10:49807954..49810165-chr10:49813805..49816263,2	K562	blood:
5	chr10:49815968..49816895-chr10:49863852..49864729,3	MCF-7	breast:
6	chr10:49814646..49816346-chr10:49859751..49862442,2	MCF-7	breast:
7	chr10:49815968..49816808-chr10:49864279..49864833,3	K562	blood:
8	chr10:49815976..49817103-chr10:49863928..49864923,9	MCF-7	breast:

No data

Variant related genes	Relation type
ARHGAP22	TF binding region
ENSG00000128805	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs7914253	0.92[CEU][hapmap];0.93[JPT][hapmap];0.90[MEX][hapmap]
rs7915707	0.87[LWK][hapmap];0.92[YRI][hapmap];0.86[AFR][1000 genomes]

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	nsv895371	chr10:49492075-50232180	Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	35 gene(s)	inside rSNPs	diseases
2	nsv895372	chr10:49576878-49933488	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv540623	chr10:49805087-49819765	Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv540624	chr10:49805087-49822634	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:49813400-49816800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr10:49813400-49844200	Weak transcription	Pancreas	Pancrea
3	chr10:49813600-49816200	Enhancers	HSMMtube	muscle
4	chr10:49813600-49816600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr10:49813600-49816600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
6	chr10:49813600-49816800	Enhancers	Primary monocytes fromperipheralblood	blood
7	chr10:49813800-49816200	Enhancers	Brain Hippocampus Middle	brain
8	chr10:49813800-49816800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr10:49813800-49817400	Enhancers	HMEC	breast
10	chr10:49813800-49819200	Enhancers	NHLF	lung
11	chr10:49813800-49819400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
12	chr10:49814000-49816200	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr10:49814000-49817400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr10:49814000-49817400	Enhancers	HUVEC	blood vessel
15	chr10:49814000-49817600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr10:49814000-49817600	Enhancers	Osteobl	bone
17	chr10:49814000-49819400	Weak transcription	Brain Cingulate Gyrus	brain
18	chr10:49814000-49820200	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr10:49814200-49816200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr10:49814200-49816600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr10:49814200-49823400	Enhancers	NHDF-Ad	bronchial
22	chr10:49814400-49816200	Enhancers	Primary hematopoietic stem cells short term culture	blood
23	chr10:49814800-49816400	Enhancers	Lung	lung
24	chr10:49815000-49816600	Enhancers	Primary B cells from peripheral blood	blood
25	chr10:49815000-49823000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr10:49815200-49816400	Enhancers	Fetal Muscle Leg	muscle
27	chr10:49815400-49816200	Enhancers	Right Atrium	heart
28	chr10:49815400-49816600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
29	chr10:49815400-49816600	Enhancers	Brain Substantia Nigra	brain
30	chr10:49815600-49816200	Enhancers	Placenta	Placenta
31	chr10:49815600-49816400	Enhancers	Brain Anterior Caudate	brain
32	chr10:49815600-49816400	Enhancers	Spleen	Spleen
33	chr10:49815600-49816800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
34	chr10:49815800-49816200	Enhancers	Brain Angular Gyrus	brain
35	chr10:49815800-49816200	Enhancers	NH-A	brain
36	chr10:49815800-49816400	Bivalent Enhancer	Stomach Smooth Muscle	stomach
37	chr10:49815800-49816600	Enhancers	HUES48 Cell Line	embryonic stem cell
38	chr10:49815800-49816600	Enhancers	iPS-18 Cell Line	embryonic stem cell
39	chr10:49815800-49816800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr10:49815800-49816800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr10:49815800-49822200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr10:49816000-49816200	Enhancers	ES-I3 Cell Line	embryonic stem cell
43	chr10:49816000-49816200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
44	chr10:49816000-49816200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
45	chr10:49816000-49816400	Enhancers	iPS-20b Cell Line	embryonic stem cell
46	chr10:49816000-49816400	Enhancers	HSMM	muscle
47	chr10:49816000-49816600	Enhancers	HUES6 Cell Line	embryonic stem cell
48	chr10:49816000-49816800	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr10:49816000-49819400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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