Variant report

Variant	rs74150985
Chromosome Location	chr10:97453845-97453846
allele	G/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	PAX5	chr10:97453445-97454161	GM12878	blood:	n/a	n/a
2	EGR1	chr10:97453173-97454237	HCT-116	colon:	n/a	chr10:97453715-97453729 chr10:97453716-97453730 chr10:97453715-97453728 chr10:97453715-97453728 chr10:97453717-97453727 chr10:97453971-97453981 chr10:97453718-97453727 chr10:97454002-97454012 chr10:97453717-97453727 chr10:97453716-97453727
3	POLR2A	chr10:97453040-97454109	GM19099	blood:	n/a	n/a
4	MAX	chr10:97453502-97454071	K562	blood:	n/a	n/a
5	SIN3AK20	chr10:97453782-97454058	A549	lung:	n/a	n/a
6	MAZ	chr10:97452966-97454230	IMR90	lung:	n/a	n/a
7	EP300	chr10:97453739-97454134	K562	blood:	n/a	n/a
8	CTCF	chr10:97453799-97454132	Hela-S3	cervix:	n/a	chr10:97453933-97453946 chr10:97453931-97453947 chr10:97453933-97453946 chr10:97453930-97453948 chr10:97453932-97453953
9	RUNX3	chr10:97453354-97454255	GM12878	blood:	n/a	n/a
10	MAX	chr10:97453385-97454240	MCF-7	breast:	n/a	n/a
11	NFATC1	chr10:97453483-97454195	GM12878	blood:	n/a	n/a
12	MAX	chr10:97453396-97454156	SK-N-SH	brain:	n/a	n/a
13	SP1	chr10:97453499-97454164	GM12878	blood:	n/a	chr10:97453758-97453779 chr10:97453799-97453820
14	REST	chr10:97453798-97454117	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr10:97453048-97453987	Raji	blood:	n/a	n/a
16	RXRA	chr10:97453816-97454084	GM12878	blood:	n/a	chr10:97453930-97453950
17	POLR2A	chr10:97453344-97454198	PANC-1	pancreas:	n/a	n/a
18	POLR2A	chr10:97453439-97453859	K562	blood:	n/a	n/a
19	E2F4	chr10:97453647-97454005	GM12878	blood:	n/a	chr10:97453800-97453809
20	MAX	chr10:97453540-97454064	H1-hESC	embryonic stem cell:	n/a	n/a
21	NFIC	chr10:97453340-97454144	ECC-1	luminal epithelium:	n/a	n/a
22	ZNF384	chr10:97453632-97454213	K562	blood:	n/a	n/a
23	MYC	chr10:97453485-97454065	H1-hESC	embryonic stem cell:	n/a	n/a
24	POLR2A	chr10:97453104-97453989	GM12878	blood:	n/a	n/a
25	CTCF	chr10:97453778-97454109	GM12891	blood:	n/a	chr10:97453933-97453946 chr10:97453931-97453947 chr10:97453933-97453946 chr10:97453930-97453948 chr10:97453932-97453953
26	RAD21	chr10:97453720-97454206	H1-hESC	embryonic stem cell:	n/a	chr10:97453931-97453950 chr10:97454003-97454016
27	RCOR1	chr10:97453456-97454168	GM12878	blood:	n/a	n/a
28	MEF2A	chr10:97453694-97454225	GM12878	blood:	n/a	chr10:97454170-97454181
29	YY1	chr10:97453828-97454095	A549	lung:	n/a	n/a
30	POLR2A	chr10:97453415-97454022	GM18526	blood:	n/a	n/a
31	POLR2A	chr10:97453301-97453927	MCF-7	breast:	n/a	n/a
32	ZMIZ1	chr10:97453593-97454043	K562	blood:	n/a	n/a
33	MYC	chr10:97453517-97453903	MCF-7	breast:	n/a	n/a
34	FOXP2	chr10:97453483-97454112	PFSK-1	brain:	n/a	n/a
35	MAX	chr10:97453183-97454160	ECC-1	luminal epithelium:	n/a	n/a
36	RAD21	chr10:97453640-97454239	MCF-7	breast:	n/a	chr10:97453931-97453950 chr10:97454003-97454016
37	POLR2A	chr10:97453410-97454021	GM18951	blood:	n/a	n/a
38	RFX5	chr10:97453129-97454205	Hela-S3	cervix:	n/a	chr10:97453885-97453901 chr10:97453888-97453902 chr10:97453768-97453777 chr10:97453886-97453899 chr10:97453890-97453899 chr10:97453886-97453900
39	PAX5	chr10:97453795-97454121	GM12892	blood:	n/a	n/a
40	ZKSCAN1	chr10:97453280-97454154	Hela-S3	cervix:	n/a	n/a
41	CREB1	chr10:97453147-97454198	HepG2	liver:	n/a	n/a
42	YY1	chr10:97453310-97454142	ECC-1	luminal epithelium:	n/a	n/a
43	FOXM1	chr10:97453216-97454333	ECC-1	luminal epithelium:	n/a	chr10:97454279-97454287
44	PAX5	chr10:97453466-97454119	GM12878	blood:	n/a	n/a
45	SIN3AK20	chr10:97453435-97454139	SK-N-SH	brain:	n/a	n/a
46	CTCF	chr10:97453758-97454101	A549	lung:	n/a	chr10:97453933-97453946 chr10:97453931-97453947 chr10:97453933-97453946 chr10:97453930-97453948 chr10:97453932-97453953
47	CTCF	chr10:97453774-97454198	Lung_OC	lung:	n/a	chr10:97453933-97453946 chr10:97453931-97453947 chr10:97453933-97453946 chr10:97453930-97453948 chr10:97453932-97453953
48	RAD21	chr10:97453635-97454267	A549	lung:	n/a	chr10:97453931-97453950 chr10:97454003-97454016
49	POLR2A	chr10:97452985-97454119	IMR90	lung:	n/a	n/a
50	POLR2A	chr10:97453279-97454151	H1-neurons	neurons:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:97453844-97453894	HEEpiC	esophagus:	n/a
2	chr10:97453844-97453894	HUVEC	blood vessel:	n/a
3	chr10:97453844-97453894	ovcar-3	ovarian:	n/a
4	chr10:97453844-97453894	NB4	blood:	n/a
5	chr10:97453844-97453894	AG04449	skin:	fetal
6	chr10:97453844-97453894	SKMC	muscle:	n/a
7	chr10:97453844-97453894	PrEC	prostate:	n/a
8	chr10:97453844-97453894	AG09319	gingival:	n/a
9	chr10:97453844-97453894	GM12878	blood:	n/a
10	chr10:97453844-97453894	BJ	skin:	n/a
11	chr10:97453844-97453894	SAEC	small airway:	n/a
12	chr10:97453844-97453894	GM12892	blood:	n/a
13	chr10:97453844-97453894	HCPEpiC	choroid plexus:	n/a
14	chr10:97453844-97453894	NH-A	brain:	n/a
15	chr10:97453844-97453894	HRCEpiC	kidney:	n/a
16	chr10:97453844-97453894	Caco-2	colon:	n/a
17	chr10:97453844-97453894	HCF	heart:	n/a
18	chr10:97453844-97453894	PANC-1	pancreas:	n/a
19	chr10:97453844-97453894	NHDF-neo	bronchial:	n/a
20	chr10:97453844-97453894	HRPEpiC	eye:	n/a
21	chr10:97453844-97453894	Hepatocyte	liver:	n/a
22	chr10:97453844-97453894	CMK	blood:	n/a
23	chr10:97453844-97453894	LNCaP	prostate:	n/a
24	chr10:97453844-97453894	GM19239	blood:	n/a
25	chr10:97453844-97453894	GM12891	blood:	n/a
26	chr10:97453844-97453894	HAEpiC	amniotic membrane:	n/a
27	chr10:97453844-97453894	K562	blood:	n/a
28	chr10:97453844-97453894	HRE	kidney:	n/a
29	chr10:97453844-97453894	HEK293	kidney:	embryo
30	chr10:97453844-97453894	Hela-S3	cervix:	n/a
31	chr10:97453844-97453894	A549	lung:	n/a
32	chr10:97453844-97453894	ECC-1	luminal epithelium:	n/a
33	chr10:97453844-97453894	HL-60	blood:	n/a
34	chr10:97453844-97453894	GM06990	blood:	n/a
35	chr10:97453844-97453894	HIPEpiC	eye:	n/a
36	chr10:97453844-97453894	BE2_C	brain:	n/a
37	chr10:97453844-97453894	HCM	heart:	n/a
38	chr10:97453844-97453894	SK-N-SH	brain:	n/a
39	chr10:97453844-97453894	MCF-7	breast:	n/a
40	chr10:97453844-97453894	PFSK-1	brain:	n/a
41	chr10:97453844-97453894	Jurkat	blood:	n/a
42	chr10:97453844-97453894	NHBE	bronchial:	n/a
43	chr10:97453844-97453894	T-47D	breast:	n/a
44	chr10:97453844-97453894	U87	brain:	n/a
45	chr10:97453844-97453894	AoSMC	blood vessel:	n/a
46	chr10:97453844-97453894	ProgFib	skin:	n/a
47	chr10:97453844-97453894	AG04450	lung:	fetal
48	chr10:97453844-97453894	AG09309	skin:	n/a
49	chr10:97453844-97453894	AG10803	skin:	n/a
50	chr10:97453844-97453894	SK-N-SH_RA	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:97453328..97454140-chr4:2010232..2010748,2	NB4	blood:
2	chr10:97414876..97416556-chr10:97452777..97454283,2	MCF-7	breast:
3	chr10:97453319..97454115-chr7:17337855..17338662,2	Hela-S3	cervix:
4	chr10:97453551..97454371-chr10:97667064..97668010,2	MCF-7	breast:

Variant related genes	Relation type
TCTN3	TF binding region
TCTN3	CpG island
ENSG00000185049	Chromatin interaction
ENSG00000059573	Chromatin interaction
ENSG00000226688	Chromatin interaction
ENSG00000173088	Chromatin interaction
ENSG00000106546	Chromatin interaction
ENSG00000237773	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs55772947	1.00[AFR][1000 genomes]
rs56256708	0.88[AFR][1000 genomes]
rs56703153	0.88[AFR][1000 genomes]
rs57566786	1.00[AFR][1000 genomes]
rs57713066	1.00[AFR][1000 genomes]
rs58019139	1.00[AFR][1000 genomes]
rs61119988	1.00[AFR][1000 genomes]
rs74150974	0.88[AFR][1000 genomes]
rs74150977	0.88[AFR][1000 genomes]
rs74150980	1.00[AFR][1000 genomes]
rs74150982	1.00[AFR][1000 genomes]
rs74150987	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526180	chr10:97332195-97511037	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
2	nsv531923	chr10:97366055-97725757	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:97452200-97454000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr10:97452200-97454200	Active TSS	HUES64 Cell Line	embryonic stem cell
3	chr10:97452400-97454200	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr10:97452400-97454200	Active TSS	iPS-18 Cell Line	embryonic stem cell
5	chr10:97452400-97454200	Active TSS	iPS-20b Cell Line	embryonic stem cell
6	chr10:97452400-97454200	Active TSS	A549	lung
7	chr10:97452400-97454400	Active TSS	Breast Myoepithelial Primary Cells	Breast
8	chr10:97452600-97454000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:97452600-97454200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr10:97452600-97454200	Active TSS	Ovary	ovary
11	chr10:97452600-97454200	Active TSS	Right Atrium	heart
12	chr10:97452600-97454200	Active TSS	NHLF	lung
13	chr10:97452600-97454400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr10:97452800-97454000	Active TSS	Fetal Intestine Large	intestine
15	chr10:97452800-97454000	Active TSS	Fetal Muscle Trunk	muscle
16	chr10:97452800-97454000	Active TSS	GM12878-XiMat	blood
17	chr10:97452800-97454200	Active TSS	K562	blood
18	chr10:97453000-97454200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr10:97453000-97454200	Active TSS	Muscle Satellite Cultured Cells	--
20	chr10:97453000-97454200	Active TSS	Fetal Intestine Small	intestine
21	chr10:97453000-97454200	Active TSS	Fetal Kidney	kidney
22	chr10:97453000-97454200	Active TSS	Fetal Lung	lung
23	chr10:97453000-97454400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr10:97453200-97454000	Active TSS	Primary B cells from peripheral blood	blood
25	chr10:97453200-97454000	Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr10:97453200-97454000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
27	chr10:97453200-97454000	Active TSS	Fetal Brain Male	brain
28	chr10:97453200-97454000	Active TSS	Dnd41	blood
29	chr10:97453200-97454200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr10:97453200-97454200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:97453200-97454200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr10:97453200-97454200	Active TSS	Brain Angular Gyrus	brain
33	chr10:97453200-97454200	Active TSS	Brain Anterior Caudate	brain
34	chr10:97453200-97454200	Active TSS	Brain Cingulate Gyrus	brain
35	chr10:97453200-97454200	Active TSS	Brain Inferior Temporal Lobe	brain
36	chr10:97453200-97454200	Active TSS	Brain Substantia Nigra	brain
37	chr10:97453200-97454200	Active TSS	Colonic Mucosa	Colon
38	chr10:97453200-97454200	Active TSS	Colon Smooth Muscle	Colon
39	chr10:97453200-97454200	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr10:97453200-97454200	Active TSS	Fetal Stomach	stomach
41	chr10:97453200-97454200	Active TSS	Rectal Mucosa Donor 29	rectum
42	chr10:97453200-97454200	Active TSS	Stomach Smooth Muscle	stomach
43	chr10:97453200-97454200	Active TSS	Hela-S3	cervix
44	chr10:97453200-97454200	Active TSS	Osteobl	bone
45	chr10:97453200-97454400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr10:97453200-97454400	Active TSS	Brain Hippocampus Middle	brain
47	chr10:97453200-97454400	Active TSS	Fetal Thymus	thymus
48	chr10:97453200-97454600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr10:97453400-97454000	Active TSS	Primary hematopoietic stem cells	blood
50	chr10:97453400-97454200	Active TSS	Primary T helper naive cells from peripheral blood	blood

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