Variant report

Variant	rs531876145
Chromosome Location	chr10:90695330-90695331
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:264)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:264 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:90695220-90695370	HPF	lung:	n/a	n/a
2	CTCF	chr10:90695150-90695435	K562	blood:	n/a	n/a
3	CTCF	chr10:90695220-90695370	AoAF	blood vessel:	n/a	n/a
4	CTCF	chr10:90695260-90695410	NB4	blood:	n/a	n/a
5	CTCF	chr10:90695111-90695444	HUVEC	blood vessel:	n/a	n/a
6	CTCF	chr10:90694953-90695434	GM12878	blood:	n/a	n/a
7	BHLHE40	chr10:90694594-90695576	GM12878	blood:	n/a	n/a
8	CTCF	chr10:90695140-90695414	MCF-7	breast:	n/a	n/a
9	RAD21	chr10:90694544-90695525	IMR90	lung:	n/a	n/a
10	CTCF	chr10:90695180-90695330	HUVEC	blood vessel:	n/a	n/a
11	CTCF	chr10:90695220-90695370	GM12874	blood:	n/a	n/a
12	MAZ	chr10:90695207-90695564	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr10:90694994-90695449	MCF-7	breast:	n/a	n/a
14	CTCF	chr10:90695200-90695350	HBMEC	blood vessel:	n/a	n/a
15	RAD21	chr10:90695058-90695518	SK-N-SH_RA	brain:	n/a	n/a
16	CTCF	chr10:90695240-90695390	HCT-116	colon:	n/a	n/a
17	CTCF	chr10:90694542-90695822	SK-N-SH	brain:	n/a	chr10:90695626-90695635
18	CEBPB	chr10:90695125-90695478	HepG2	liver:	n/a	n/a
19	TEAD4	chr10:90695103-90695498	H1-hESC	embryonic stem cell:	n/a	n/a
20	CTCF	chr10:90695220-90695370	GM12878	blood:	n/a	n/a
21	CTCF	chr10:90695146-90695379	SK-N-SH_RA	brain:	n/a	n/a
22	CTCF	chr10:90695164-90695418	LNCaP	prostate:	n/a	n/a
23	CTCF	chr10:90695197-90695352	MCF-7	breast:	n/a	n/a
24	CTCF	chr10:90695200-90695350	GM12865	blood:	n/a	n/a
25	CTCF	chr10:90694386-90695806	HCT-116	colon:	n/a	chr10:90695626-90695635
26	CTCF	chr10:90695220-90695370	GM12864	blood:	n/a	n/a
27	CEBPB	chr10:90695142-90695473	H1-hESC	embryonic stem cell:	n/a	n/a
28	TEAD4	chr10:90695115-90695488	H1-hESC	embryonic stem cell:	n/a	n/a
29	BCLAF1	chr10:90694507-90695585	GM12878	blood:	n/a	n/a
30	STAT3	chr10:90695197-90695465	GM12878	blood:	n/a	n/a
31	FOXM1	chr10:90694523-90695503	GM12878	blood:	n/a	n/a
32	CEBPB	chr10:90694552-90695638	GM12878	blood:	n/a	n/a
33	CTCF	chr10:90695260-90695410	HFF	foreskin:	n/a	n/a
34	CTCF	chr10:90695240-90695390	NHDF-neo	bronchial:	n/a	n/a
35	CTCF	chr10:90694331-90696214	A549	lung:	n/a	chr10:90695626-90695635
36	CTCF	chr10:90695240-90695390	HAc	cerebellar:	n/a	n/a
37	FOS	chr10:90695263-90695463	MCF10A-Er-Src	breast:	n/a	n/a
38	RAD21	chr10:90694555-90695597	GM12878	blood:	n/a	n/a
39	CTCF	chr10:90695240-90695390	NHLF	lung:	n/a	n/a
40	MAFF	chr10:90695129-90695457	HepG2	liver:	n/a	n/a
41	MAX	chr10:90695188-90695429	H1-hESC	embryonic stem cell:	n/a	n/a
42	CTCF	chr10:90695200-90695350	HEK293	kidney:	n/a	n/a
43	RAD21	chr10:90694530-90695628	ECC-1	luminal epithelium:	n/a	n/a
44	CTCF	chr10:90695240-90695390	SAEC	small airway:	n/a	n/a
45	POLR2A	chr10:90694957-90695762	GM12878	blood:	n/a	n/a
46	CTCF	chr10:90695180-90695330	HVMF	connective:	n/a	n/a
47	CTCF	chr10:90695200-90695350	GM12873	blood:	n/a	n/a
48	CTCF	chr10:90695220-90695370	HBMEC	blood vessel:	n/a	n/a
49	RAD21	chr10:90694521-90695786	ECC-1	luminal epithelium:	n/a	n/a
50	CTCF	chr10:90695200-90695350	HPF	lung:	n/a	n/a

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:90694072..90695760-chr10:90972688..90973953,5	K562	blood:
2	chr10:90694289..90695530-chr10:90746407..90747396,8	K562	blood:
3	chr10:90694766..90695788-chr10:90977194..90977863,3	MCF-7	breast:
4	chr10:90695018..90695761-chr10:90750807..90751680,2	MCF-7	breast:
5	chr10:90693883..90696142-chr10:90743433..90746344,2	MCF-7	breast:
6	chr10:90694758..90695380-chr10:90973136..90973942,2	MCF-7	breast:
7	chr10:90694253..90695800-chr10:90745177..90747385,25	MCF-7	breast:
8	chr10:90694789..90695368-chr10:90747585..90748463,2	MCF-7	breast:
9	chr10:90694957..90695602-chr10:90711260..90711824,2	MCF-7	breast:
10	chr10:90694284..90695841-chr10:90746413..90747615,9	MCF-7	breast:

No data

Variant related genes	Relation type
ACTA2-AS1	TF binding region
ENSG00000107796	Chromatin interaction
ENSG00000026103	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529324	chr10:90198865-90738588	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1042848	chr10:90466032-91318474	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv540741	chr10:90466032-91318474	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
4	nsv831942	chr10:90564697-90730352	Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS 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 target site	26 gene(s)	inside rSNPs	diseases
5	nsv831943	chr10:90664836-90865834	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv948130	chr10:90694968-90695578	Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:105 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:90655200-90701400	Weak transcription	Gastric	stomach
2	chr10:90675800-90696400	Weak transcription	Spleen	Spleen
3	chr10:90681400-90697800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr10:90686000-90697600	Weak transcription	Left Ventricle	heart
5	chr10:90686800-90697800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr10:90691400-90697800	Weak transcription	Small Intestine	intestine
7	chr10:90692400-90699200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr10:90692400-90711000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr10:90693400-90695600	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr10:90693400-90697200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr10:90694600-90695800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:90694600-90695800	Enhancers	Fetal Heart	heart
13	chr10:90694600-90707400	Strong transcription	HSMMtube	muscle
14	chr10:90694800-90695400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr10:90694800-90695400	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr10:90694800-90695400	Enhancers	Placenta	Placenta
17	chr10:90694800-90695400	Enhancers	HUVEC	blood vessel
18	chr10:90694800-90695600	Enhancers	HUES6 Cell Line	embryonic stem cell
19	chr10:90694800-90695600	Enhancers	iPS-15b Cell Line	embryonic stem cell
20	chr10:90694800-90695600	Enhancers	Primary monocytes fromperipheralblood	blood
21	chr10:90694800-90695600	Enhancers	Primary neutrophils fromperipheralblood	blood
22	chr10:90694800-90695600	Enhancers	Primary B cells from peripheral blood	blood
23	chr10:90694800-90695600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
24	chr10:90694800-90695600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr10:90694800-90695600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
26	chr10:90694800-90695600	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr10:90694800-90695600	Enhancers	Duodenum Mucosa	Duodenum
28	chr10:90694800-90695600	Genic enhancers	Fetal Intestine Small	intestine
29	chr10:90694800-90695600	Genic enhancers	Fetal Muscle Leg	muscle
30	chr10:90694800-90695600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr10:90694800-90695600	Enhancers	HepG2	liver
32	chr10:90694800-90695600	Genic enhancers	NH-A	brain
33	chr10:90694800-90695600	Genic enhancers	NHDF-Ad	bronchial
34	chr10:90694800-90695600	Genic enhancers	NHLF	lung
35	chr10:90694800-90695600	Genic enhancers	Osteobl	bone
36	chr10:90694800-90695800	Enhancers	iPS-18 Cell Line	embryonic stem cell
37	chr10:90694800-90695800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr10:90694800-90695800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr10:90694800-90695800	Enhancers	Primary T cells fromperipheralblood	blood
40	chr10:90694800-90695800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
41	chr10:90694800-90695800	Enhancers	Primary T helper naive cells from peripheral blood	blood
42	chr10:90694800-90695800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
43	chr10:90694800-90695800	Enhancers	Primary T helper cells fromperipheralblood	blood
44	chr10:90694800-90695800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
45	chr10:90694800-90695800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
46	chr10:90694800-90695800	Enhancers	Primary T killer memory cells from peripheral blood	blood
47	chr10:90694800-90695800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr10:90694800-90695800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr10:90694800-90695800	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr10:90694800-90695800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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