Variant report

Variant	rs138005969
Chromosome Location	chr10:90695578-90695579
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:35)
CpG islands
(count:61)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:35 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr10:90694542-90695822	SK-N-SH	brain:	n/a	chr10:90695626-90695635
2	CTCF	chr10:90694386-90695806	HCT-116	colon:	n/a	chr10:90695626-90695635
3	BCLAF1	chr10:90694507-90695585	GM12878	blood:	n/a	n/a
4	CEBPB	chr10:90694552-90695638	GM12878	blood:	n/a	n/a
5	CTCF	chr10:90694331-90696214	A549	lung:	n/a	chr10:90695626-90695635
6	RAD21	chr10:90694555-90695597	GM12878	blood:	n/a	n/a
7	RAD21	chr10:90694530-90695628	ECC-1	luminal epithelium:	n/a	n/a
8	POLR2A	chr10:90694957-90695762	GM12878	blood:	n/a	n/a
9	RAD21	chr10:90694521-90695786	ECC-1	luminal epithelium:	n/a	n/a
10	RAD21	chr10:90694555-90695593	H1-hESC	embryonic stem cell:	n/a	n/a
11	MAZ	chr10:90694517-90695651	GM12878	blood:	n/a	n/a
12	RAD21	chr10:90694584-90695588	SK-N-SH_RA	brain:	n/a	n/a
13	RAD21	chr10:90694493-90695635	A549	lung:	n/a	n/a
14	CTCF	chr10:90694539-90695655	GM12878	blood:	n/a	chr10:90695626-90695635
15	MAX	chr10:90694542-90695629	NB4	blood:	n/a	chr10:90694727-90694737
16	HCFC1	chr10:90695303-90695646	K562	blood:	n/a	n/a
17	RAD21	chr10:90694429-90695618	HCT-116	colon:	n/a	n/a
18	RAD21	chr10:90694580-90695651	MCF-7	breast:	n/a	n/a
19	CTCF	chr10:90695520-90695670	HAc	cerebellar:	n/a	chr10:90695626-90695635
20	RCOR1	chr10:90695177-90695633	GM12878	blood:	n/a	n/a
21	SMC3	chr10:90694436-90695902	SK-N-SH	brain:	n/a	n/a
22	CTCF	chr10:90695480-90695630	SK-N-SH_RA	brain:	n/a	n/a
23	CTCF	chr10:90694510-90695716	IMR90	lung:	n/a	chr10:90695626-90695635
24	NRF1	chr10:90694657-90695688	GM12878	blood:	n/a	n/a
25	MYC	chr10:90695146-90695812	MCF10A-Er-Src	breast:	n/a	n/a
26	RAD21	chr10:90694431-90695734	HCT-116	colon:	n/a	n/a
27	MXI1	chr10:90695165-90695714	GM12878	blood:	n/a	chr10:90695560-90695569
28	FOXM1	chr10:90694478-90695619	GM12878	blood:	n/a	n/a
29	RUNX3	chr10:90694532-90695640	GM12878	blood:	n/a	n/a
30	MAX	chr10:90694485-90695696	GM12878	blood:	n/a	chr10:90694727-90694737
31	MTA3	chr10:90694621-90695794	GM12878	blood:	n/a	n/a
32	SMC3	chr10:90694541-90695629	Hela-S3	cervix:	n/a	n/a
33	SMC3	chr10:90694541-90695706	GM12878	blood:	n/a	n/a
34	CEBPB	chr10:90695021-90695622	A549	lung:	n/a	n/a
35	RAD21	chr10:90694391-90696009	SK-N-SH	brain:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:90695563-90695613	GM12892	blood:	n/a
2	chr10:90695563-90695613	HRPEpiC	eye:	n/a
3	chr10:90695563-90695613	NH-A	brain:	n/a
4	chr10:90695563-90695613	HEK293	kidney:	embryo
5	chr10:90695563-90695613	SAEC	small airway:	n/a
6	chr10:90695563-90695613	BJ	skin:	n/a
7	chr10:90695563-90695613	CMK	blood:	n/a
8	chr10:90695563-90695613	LNCaP	prostate:	n/a
9	chr10:90695563-90695613	T-47D	breast:	n/a
10	chr10:90695563-90695613	HCPEpiC	choroid plexus:	n/a
11	chr10:90695563-90695613	AG04450	lung:	fetal
12	chr10:90695563-90695613	GM12891	blood:	n/a
13	chr10:90695563-90695613	HEEpiC	esophagus:	n/a
14	chr10:90695563-90695613	HAEpiC	amniotic membrane:	n/a
15	chr10:90695563-90695613	NHDF-neo	bronchial:	n/a
16	chr10:90695563-90695613	HepG2	liver:	n/a
17	chr10:90695563-90695613	HCM	heart:	n/a
18	chr10:90695563-90695613	HIPEpiC	eye:	n/a
19	chr10:90695563-90695613	HPAEpiC	pulmonary alveolar:	n/a
20	chr10:90695563-90695613	H1-hESC	embryonic stem cell:	embryo
21	chr10:90695563-90695613	HRCEpiC	kidney:	n/a
22	chr10:90695563-90695613	ovcar-3	ovarian:	n/a
23	chr10:90695563-90695613	Hela-S3	cervix:	n/a
24	chr10:90695563-90695613	U87	brain:	n/a
25	chr10:90695563-90695613	NHBE	bronchial:	n/a
26	chr10:90695563-90695613	Jurkat	blood:	n/a
27	chr10:90695563-90695613	BE2_C	brain:	n/a
28	chr10:90695563-90695613	MCF-7	breast:	n/a
29	chr10:90695563-90695613	SK-N-MC	brain:	n/a
30	chr10:90695563-90695613	PANC-1	pancreas:	n/a
31	chr10:90695563-90695613	MCF10A-Er-Src	breast:	n/a
32	chr10:90695563-90695613	GM06990	blood:	n/a
33	chr10:90695563-90695613	HMEC	breast:	n/a
34	chr10:90695563-90695613	HCT-116	colon:	n/a
35	chr10:90695563-90695613	SK-N-SH_RA	brain:	n/a
36	chr10:90695563-90695613	AG04449	skin:	fetal
37	chr10:90695563-90695613	HCF	heart:	n/a
38	chr10:90695563-90695613	ProgFib	skin:	n/a
39	chr10:90695563-90695613	A549	lung:	n/a
40	chr10:90695563-90695613	PrEC	prostate:	n/a
41	chr10:90695563-90695613	GM12878	blood:	n/a
42	chr10:90695563-90695613	AG09319	gingival:	n/a
43	chr10:90695563-90695613	AoSMC	blood vessel:	n/a
44	chr10:90695563-90695613	HL-60	blood:	n/a
45	chr10:90695563-90695613	SKMC	muscle:	n/a
46	chr10:90695563-90695613	NB4	blood:	n/a
47	chr10:90695563-90695613	Hepatocyte	liver:	n/a
48	chr10:90695563-90695613	IMR90	lung:	fetal
49	chr10:90695563-90695613	PFSK-1	brain:	n/a
50	chr10:90695563-90695613	ECC-1	luminal epithelium:	n/a

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:90694072..90695760-chr10:90972688..90973953,5	K562	blood:
2	chr10:90694766..90695788-chr10:90977194..90977863,3	MCF-7	breast:
3	chr10:90695018..90695761-chr10:90750807..90751680,2	MCF-7	breast:
4	chr10:90693883..90696142-chr10:90743433..90746344,2	MCF-7	breast:
5	chr10:90694253..90695800-chr10:90745177..90747385,25	MCF-7	breast:
6	chr10:90694957..90695602-chr10:90711260..90711824,2	MCF-7	breast:
7	chr10:90694284..90695841-chr10:90746413..90747615,9	MCF-7	breast:

No data

Variant related genes	Relation type
ACTA2-AS1	TF binding region
ACTA2-AS1	CpG island
ENSG00000026103	Chromatin interaction
ENSG00000107796	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:103 , 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	chr10:90694800-90695600	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr10:90694800-90695600	Enhancers	iPS-15b Cell Line	embryonic stem cell
16	chr10:90694800-90695600	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr10:90694800-90695600	Enhancers	Primary neutrophils fromperipheralblood	blood
18	chr10:90694800-90695600	Enhancers	Primary B cells from peripheral blood	blood
19	chr10:90694800-90695600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
20	chr10:90694800-90695600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr10:90694800-90695600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr10:90694800-90695600	Flanking Active TSS	Brain Hippocampus Middle	brain
23	chr10:90694800-90695600	Enhancers	Duodenum Mucosa	Duodenum
24	chr10:90694800-90695600	Genic enhancers	Fetal Intestine Small	intestine
25	chr10:90694800-90695600	Genic enhancers	Fetal Muscle Leg	muscle
26	chr10:90694800-90695600	Enhancers	Rectal Mucosa Donor 31	rectum
27	chr10:90694800-90695600	Enhancers	HepG2	liver
28	chr10:90694800-90695600	Genic enhancers	NH-A	brain
29	chr10:90694800-90695600	Genic enhancers	NHDF-Ad	bronchial
30	chr10:90694800-90695600	Genic enhancers	NHLF	lung
31	chr10:90694800-90695600	Genic enhancers	Osteobl	bone
32	chr10:90694800-90695800	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr10:90694800-90695800	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr10:90694800-90695800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr10:90694800-90695800	Enhancers	Primary T cells fromperipheralblood	blood
36	chr10:90694800-90695800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
37	chr10:90694800-90695800	Enhancers	Primary T helper naive cells from peripheral blood	blood
38	chr10:90694800-90695800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
39	chr10:90694800-90695800	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr10:90694800-90695800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
41	chr10:90694800-90695800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
42	chr10:90694800-90695800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr10:90694800-90695800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr10:90694800-90695800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr10:90694800-90695800	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr10:90694800-90695800	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr10:90694800-90695800	Enhancers	Brain Substantia Nigra	brain
48	chr10:90694800-90695800	Genic enhancers	Fetal Intestine Large	intestine
49	chr10:90694800-90695800	Genic enhancers	Fetal Thymus	thymus
50	chr10:90694800-90697000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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