Variant report

Variant	rs7070914
Chromosome Location	chr10:45428482-45428483
allele	C/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	CTCF	chr10:45428058-45428608	MCF-7	breast:	n/a	chr10:45428319-45428329 chr10:45428316-45428337 chr10:45428317-45428330 chr10:45428315-45428331 chr10:45428317-45428326 chr10:45428314-45428332
2	CTCF	chr10:45428166-45428503	GM12878	blood:	n/a	chr10:45428319-45428329 chr10:45428316-45428337 chr10:45428317-45428330 chr10:45428315-45428331 chr10:45428317-45428326 chr10:45428314-45428332
3	WRNIP1	chr10:45428138-45428914	GM12878	blood:	n/a	n/a
4	BCLAF1	chr10:45428094-45428503	GM12878	blood:	n/a	n/a
5	CTCF	chr10:45427955-45428521	GM12891	blood:	n/a	chr10:45428319-45428329 chr10:45428316-45428337 chr10:45428317-45428330 chr10:45428315-45428331 chr10:45428317-45428326 chr10:45428314-45428332
6	RAD21	chr10:45427961-45428714	HCT-116	colon:	n/a	chr10:45428315-45428334 chr10:45428320-45428330 chr10:45428320-45428332 chr10:45428318-45428331 chr10:45428418-45428432
7	FOXM1	chr10:45427970-45428655	GM12878	blood:	n/a	n/a
8	TCF12	chr10:45428158-45428491	GM12878	blood:	n/a	n/a
9	CTCF	chr10:45428340-45428490	HAc	cerebellar:	n/a	n/a
10	ELK1	chr10:45428141-45428509	GM12878	blood:	n/a	n/a
11	RCOR1	chr10:45428098-45428524	K562	blood:	n/a	n/a
12	MXI1	chr10:45428076-45428535	HepG2	liver:	n/a	n/a
13	MXI1	chr10:45428188-45428499	H1-hESC	embryonic stem cell:	n/a	n/a
14	EBF1	chr10:45428183-45428806	GM12878	blood:	n/a	n/a
15	SMC3	chr10:45428005-45428769	GM12878	blood:	n/a	chr10:45428320-45428330 chr10:45428316-45428330
16	CREB1	chr10:45428202-45428498	A549	lung:	n/a	n/a
17	RAD21	chr10:45427974-45428677	H1-hESC	embryonic stem cell:	n/a	chr10:45428315-45428334 chr10:45428320-45428330 chr10:45428320-45428332 chr10:45428318-45428331 chr10:45428418-45428432
18	RUNX3	chr10:45428076-45428580	GM12878	blood:	n/a	n/a
19	CTCF	chr10:45428200-45428499	ECC-1	luminal epithelium:	n/a	chr10:45428319-45428329 chr10:45428316-45428337 chr10:45428317-45428330 chr10:45428315-45428331 chr10:45428317-45428326 chr10:45428314-45428332
20	CTCF	chr10:45428112-45428522	HepG2	liver:	n/a	chr10:45428319-45428329 chr10:45428316-45428337 chr10:45428317-45428330 chr10:45428315-45428331 chr10:45428317-45428326 chr10:45428314-45428332
21	JUND	chr10:45428157-45428484	H1-hESC	embryonic stem cell:	n/a	n/a
22	RELA	chr10:45428180-45428558	GM18951	blood:	n/a	n/a
23	RCOR1	chr10:45427961-45428485	HepG2	liver:	n/a	n/a
24	USF2	chr10:45428122-45428650	GM12878	blood:	n/a	n/a
25	RAD21	chr10:45427904-45428903	SK-N-SH	brain:	n/a	chr10:45428315-45428334 chr10:45428320-45428330 chr10:45428320-45428332 chr10:45428318-45428331 chr10:45428418-45428432
26	CTCF	chr10:45428102-45428825	H1-hESC	embryonic stem cell:	n/a	chr10:45428319-45428329 chr10:45428316-45428337 chr10:45428317-45428330 chr10:45428315-45428331 chr10:45428317-45428326 chr10:45428314-45428332
27	CTCF	chr10:45428148-45428501	GM19239	blood:	n/a	chr10:45428319-45428329 chr10:45428316-45428337 chr10:45428317-45428330 chr10:45428315-45428331 chr10:45428317-45428326 chr10:45428314-45428332
28	TCF3	chr10:45428083-45428773	GM12878	blood:	n/a	chr10:45428724-45428738
29	TCF12	chr10:45428162-45428486	GM12878	blood:	n/a	n/a
30	ZNF263	chr10:45428091-45428599	HEK293-T-REx	kidney:	n/a	n/a
31	RFX5	chr10:45428211-45428508	GM12878	blood:	n/a	n/a
32	RAD21	chr10:45427913-45428752	HCT-116	colon:	n/a	chr10:45428315-45428334 chr10:45428320-45428330 chr10:45428320-45428332 chr10:45428318-45428331 chr10:45428418-45428432
33	PML	chr10:45428112-45428609	GM12878	blood:	n/a	n/a
34	TCF12	chr10:45428229-45428530	H1-hESC	embryonic stem cell:	n/a	n/a
35	YY1	chr10:45428111-45428589	GM12878	blood:	n/a	chr10:45428509-45428519 chr10:45428508-45428517 chr10:45428497-45428519
36	SMC3	chr10:45427932-45428903	SK-N-SH	brain:	n/a	chr10:45428320-45428330 chr10:45428316-45428330
37	CTCF	chr10:45428051-45428698	HCT-116	colon:	n/a	chr10:45428319-45428329 chr10:45428316-45428337 chr10:45428317-45428330 chr10:45428315-45428331 chr10:45428317-45428326 chr10:45428314-45428332
38	TEAD4	chr10:45428101-45428518	H1-hESC	embryonic stem cell:	n/a	n/a
39	NFIC	chr10:45428120-45428525	GM12878	blood:	n/a	n/a
40	RAD21	chr10:45428047-45428625	A549	lung:	n/a	chr10:45428315-45428334 chr10:45428320-45428330 chr10:45428320-45428332 chr10:45428318-45428331 chr10:45428418-45428432
41	CTCF	chr10:45428058-45428879	GM12878	blood:	n/a	chr10:45428319-45428329 chr10:45428316-45428337 chr10:45428317-45428330 chr10:45428315-45428331 chr10:45428317-45428326 chr10:45428314-45428332
42	CTCF	chr10:45428056-45428549	A549	lung:	n/a	chr10:45428319-45428329 chr10:45428316-45428337 chr10:45428317-45428330 chr10:45428315-45428331 chr10:45428317-45428326 chr10:45428314-45428332
43	NANOG	chr10:45428233-45428575	H1-hESC	embryonic stem cell:	n/a	n/a
44	BHLHE40	chr10:45428152-45428556	GM12878	blood:	n/a	n/a
45	CTCF	chr10:45427945-45428698	HCT-116	colon:	n/a	chr10:45428319-45428329 chr10:45428316-45428337 chr10:45428317-45428330 chr10:45428315-45428331 chr10:45428317-45428326 chr10:45428314-45428332
46	MYC	chr10:45428168-45428499	K562	blood:	n/a	n/a
47	CTCF	chr10:45428010-45428696	K562	blood:	n/a	chr10:45428319-45428329 chr10:45428316-45428337 chr10:45428317-45428330 chr10:45428315-45428331 chr10:45428317-45428326 chr10:45428314-45428332
48	ELF1	chr10:45428178-45428575	GM12878	blood:	n/a	n/a
49	CTCF	chr10:45428148-45428484	K562	blood:	n/a	chr10:45428319-45428329 chr10:45428316-45428337 chr10:45428317-45428330 chr10:45428315-45428331 chr10:45428317-45428326 chr10:45428314-45428332
50	CUX1	chr10:45428257-45428542	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:45428474-45428524	SK-N-SH	brain:	n/a
2	chr10:45428474-45428524	SAEC	small airway:	n/a
3	chr10:45428474-45428524	K562	blood:	n/a
4	chr10:45428474-45428524	HNPCEpiC	eye:	n/a
5	chr10:45428474-45428524	IMR90	lung:	fetal
6	chr10:45428474-45428524	HL-60	blood:	n/a
7	chr10:45428474-45428524	GM12891	blood:	n/a
8	chr10:45428474-45428524	HCM	heart:	n/a
9	chr10:45428474-45428524	HPAEpiC	pulmonary alveolar:	n/a
10	chr10:45428474-45428524	T-47D	breast:	n/a
11	chr10:45428474-45428524	NHDF-neo	bronchial:	n/a
12	chr10:45428474-45428524	HEK293	kidney:	embryo
13	chr10:45428474-45428524	HRPEpiC	eye:	n/a
14	chr10:45428474-45428524	AG04449	skin:	fetal
15	chr10:45428474-45428524	HepG2	liver:	n/a
16	chr10:45428474-45428524	AG10803	skin:	n/a
17	chr10:45428474-45428524	BJ	skin:	n/a
18	chr10:45428474-45428524	SKMC	muscle:	n/a
19	chr10:45428474-45428524	HCF	heart:	n/a
20	chr10:45428474-45428524	U87	brain:	n/a
21	chr10:45428474-45428524	HIPEpiC	eye:	n/a
22	chr10:45428474-45428524	H1-hESC	embryonic stem cell:	embryo
23	chr10:45428474-45428524	BE2_C	brain:	n/a
24	chr10:45428474-45428524	HAEpiC	amniotic membrane:	n/a
25	chr10:45428474-45428524	NB4	blood:	n/a
26	chr10:45428474-45428524	HEEpiC	esophagus:	n/a
27	chr10:45428474-45428524	AoSMC	blood vessel:	n/a
28	chr10:45428474-45428524	A549	lung:	n/a
29	chr10:45428474-45428524	Jurkat	blood:	n/a
30	chr10:45428474-45428524	HUVEC	blood vessel:	n/a
31	chr10:45428474-45428524	HCPEpiC	choroid plexus:	n/a
32	chr10:45428474-45428524	AG04450	lung:	fetal
33	chr10:45428474-45428524	ProgFib	skin:	n/a
34	chr10:45428474-45428524	MCF10A-Er-Src	breast:	n/a
35	chr10:45428474-45428524	Hela-S3	cervix:	n/a
36	chr10:45428474-45428524	PFSK-1	brain:	n/a
37	chr10:45428474-45428524	GM12892	blood:	n/a
38	chr10:45428474-45428524	GM12878	blood:	n/a
39	chr10:45428474-45428524	Caco-2	colon:	n/a
40	chr10:45428474-45428524	MCF-7	breast:	n/a
41	chr10:45428474-45428524	PANC-1	pancreas:	n/a
42	chr10:45428474-45428524	CMK	blood:	n/a
43	chr10:45428474-45428524	ECC-1	luminal epithelium:	n/a
44	chr10:45428474-45428524	LNCaP	prostate:	n/a
45	chr10:45428474-45428524	AG09319	gingival:	n/a
46	chr10:45428474-45428524	RPTEC	kidney:	n/a
47	chr10:45428474-45428524	GM06990	blood:	n/a
48	chr10:45428474-45428524	SK-N-SH_RA	brain:	n/a
49	chr10:45428474-45428524	SK-N-MC	brain:	n/a
50	chr10:45428474-45428524	PrEC	prostate:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:45427841..45428825-chr10:45489737..45490478,2	MCF-7	breast:
2	chr10:45427953..45428773-chr10:45470476..45471026,2	MCF-7	breast:
3	chr10:45427848..45429109-chr10:45470117..45471084,9	K562	blood:
4	chr10:45427854..45429057-chr10:45469852..45471361,17	MCF-7	breast:
5	chr10:45426643..45429443-chr10:45484154..45486322,2	MCF-7	breast:
6	chr10:45428031..45428773-chr10:45485591..45486479,3	K562	blood:
7	chr10:45428166..45428769-chr10:45503894..45504435,2	MCF-7	breast:
8	chr10:45427938..45428722-chr10:45460765..45461409,2	MCF-7	breast:
9	chr10:45428159..45428765-chr10:45460639..45461384,2	MCF-7	breast:
10	chr10:45428054..45429898-chr10:45453888..45455446,2	MCF-7	breast:
11	chr10:45428329..45431725-chr10:45453082..45455678,3	MCF-7	breast:
12	chr10:45427906..45430396-chr10:45477062..45479599,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000223462	TF binding region
ENSG00000223462	CpG island
ENSG00000273363	Chromatin interaction
ENSG00000224812	Chromatin interaction
ENSG00000107551	Chromatin interaction

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1109423	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs12414447	0.92[CEU][hapmap];0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831845	chr10:45300268-45460395	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	nsv831846	chr10:45322236-45556370	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv466909	chr10:45408011-45446791	Enhancers Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
4	nsv550714	chr10:45408011-45446791	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv818757	chr10:45420076-45431321	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:45410200-45430400	Weak transcription	Gastric	stomach
2	chr10:45417000-45434000	Weak transcription	Fetal Brain Female	brain
3	chr10:45423200-45428600	Weak transcription	Esophagus	oesophagus
4	chr10:45425400-45429800	Weak transcription	Sigmoid Colon	Sigmoid Colon
5	chr10:45425800-45430600	Weak transcription	Colonic Mucosa	Colon
6	chr10:45427600-45433600	Enhancers	Fetal Muscle Leg	muscle
7	chr10:45427800-45428800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr10:45427800-45429800	Enhancers	Spleen	Spleen
9	chr10:45427800-45432200	Enhancers	Skeletal Muscle Male	skeletal muscle
10	chr10:45427800-45432200	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr10:45427800-45432400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr10:45427800-45432400	Enhancers	Right Ventricle	heart
13	chr10:45427800-45432800	Enhancers	HSMMtube	muscle
14	chr10:45427800-45433200	Enhancers	Adipose Nuclei	Adipose
15	chr10:45427800-45433200	Enhancers	Pancreas	Pancrea
16	chr10:45428000-45428600	Enhancers	HUES48 Cell Line	embryonic stem cell
17	chr10:45428000-45428600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr10:45428000-45428600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
19	chr10:45428000-45428600	Enhancers	Colon Smooth Muscle	Colon
20	chr10:45428000-45428600	Enhancers	Fetal Intestine Large	intestine
21	chr10:45428000-45428600	Enhancers	Rectal Mucosa Donor 31	rectum
22	chr10:45428000-45428800	Enhancers	ES-I3 Cell Line	embryonic stem cell
23	chr10:45428000-45428800	Enhancers	H1 Cell Line	embryonic stem cell
24	chr10:45428000-45428800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr10:45428000-45428800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
26	chr10:45428000-45428800	Enhancers	Liver	Liver
27	chr10:45428000-45428800	Enhancers	Duodenum Mucosa	Duodenum
28	chr10:45428000-45428800	Enhancers	Lung	lung
29	chr10:45428000-45428800	Enhancers	Rectal Smooth Muscle	rectum
30	chr10:45428000-45429000	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr10:45428000-45429000	Enhancers	Brain Angular Gyrus	brain
32	chr10:45428000-45429200	Enhancers	Brain Inferior Temporal Lobe	brain
33	chr10:45428000-45429200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
34	chr10:45428000-45429400	Enhancers	Fetal Intestine Small	intestine
35	chr10:45428000-45429400	Enhancers	Dnd41	blood
36	chr10:45428000-45429600	Enhancers	Brain Substantia Nigra	brain
37	chr10:45428000-45429600	Enhancers	GM12878-XiMat	blood
38	chr10:45428000-45429800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
39	chr10:45428000-45430600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
40	chr10:45428000-45430800	Enhancers	Brain Hippocampus Middle	brain
41	chr10:45428000-45431000	Enhancers	Monocytes-CD14+_RO01746	blood
42	chr10:45428000-45432000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr10:45428000-45432400	Enhancers	Brain Anterior Caudate	brain
44	chr10:45428000-45432600	Enhancers	Brain Cingulate Gyrus	brain
45	chr10:45428000-45432800	Enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr10:45428000-45433000	Enhancers	Fetal Thymus	thymus
47	chr10:45428000-45433200	Enhancers	Fetal Heart	heart
48	chr10:45428000-45433400	Enhancers	Placenta	Placenta
49	chr10:45428000-45436600	Enhancers	Primary monocytes fromperipheralblood	blood
50	chr10:45428200-45428600	Enhancers	Primary B cells from peripheral blood	blood

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