Variant report

Variant	rs74151660
Chromosome Location	chr10:94352747-94352748
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:435)
CpG islands
(count:122)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:435 , 50 per page) page: 1 2 3 4 5 6 7 ... 9

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr10:94350480-94353543	Raji	blood:	n/a	n/a
2	CREB1	chr10:94352529-94353307	A549	lung:	n/a	n/a
3	POLR2A	chr10:94352311-94353320	SK-N-MC	brain:	n/a	n/a
4	MAZ	chr10:94352212-94353245	IMR90	lung:	n/a	n/a
5	POLR2A	chr10:94351139-94353402	GM19193	blood:	n/a	n/a
6	CEBPB	chr10:94352440-94353332	ECC-1	luminal epithelium:	n/a	n/a
7	PML	chr10:94352238-94353500	GM12878	blood:	n/a	n/a
8	CEBPB	chr10:94352534-94353047	Hela-S3	cervix:	n/a	n/a
9	PML	chr10:94352474-94353162	K562	blood:	n/a	n/a
10	YY1	chr10:94352277-94353498	ECC-1	luminal epithelium:	n/a	chr10:94352775-94352784 chr10:94353070-94353079
11	IRF1	chr10:94352379-94353131	K562	blood:	n/a	chr10:94352774-94352788
12	MYC	chr10:94352378-94353417	K562	blood:	n/a	n/a
13	CREB1	chr10:94352439-94353373	GM12878	blood:	n/a	n/a
14	EP300	chr10:94352481-94353072	K562	blood:	n/a	chr10:94353048-94353064
15	PAX5	chr10:94352593-94352893	GM12878	blood:	n/a	n/a
16	POLR2A	chr10:94352262-94353251	HL-60	blood:	n/a	n/a
17	CCNT2	chr10:94352643-94353181	K562	blood:	n/a	chr10:94352775-94352784
18	SIN3A	chr10:94352422-94354097	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr10:94352013-94353315	GM12892	blood:	n/a	n/a
20	POLR2A	chr10:94350866-94353483	GM12878	blood:	n/a	n/a
21	RFX5	chr10:94352529-94352918	GM12878	blood:	n/a	n/a
22	POLR2A	chr10:94350532-94353421	GM12878	blood:	n/a	n/a
23	HEY1	chr10:94352443-94353170	K562	blood:	n/a	chr10:94352770-94352785
24	CHD2	chr10:94352552-94352911	HepG2	liver:	n/a	n/a
25	ZNF143	chr10:94352477-94353472	GM12878	blood:	n/a	chr10:94352803-94352818
26	TCF7L2	chr10:94352379-94353384	PANC-1	pancreas:	n/a	n/a
27	MAX	chr10:94352502-94353562	Hela-S3	cervix:	n/a	n/a
28	SIN3AK20	chr10:94352277-94353592	MCF-7	breast:	n/a	n/a
29	MTA3	chr10:94352376-94353127	GM12878	blood:	n/a	n/a
30	STAT1	chr10:94352506-94353128	GM12878	blood:	n/a	n/a
31	SIN3AK20	chr10:94352355-94353408	HCT-116	colon:	n/a	n/a
32	SIN3AK20	chr10:94352595-94353047	SK-N-SH	brain:	n/a	n/a
33	GABPA	chr10:94352643-94353163	K562	blood:	n/a	chr10:94352819-94352833 chr10:94352816-94352830 chr10:94352775-94352784
34	FOS	chr10:94352556-94352894	MCF10A-Er-Src	breast:	n/a	n/a
35	ZNF143	chr10:94352579-94353245	H1-hESC	embryonic stem cell:	n/a	chr10:94352803-94352818
36	YY1	chr10:94352577-94353246	K562	blood:	n/a	chr10:94352775-94352784 chr10:94353070-94353079
37	MXI1	chr10:94352507-94353272	HepG2	liver:	n/a	n/a
38	NFIC	chr10:94352372-94352924	GM12878	blood:	n/a	n/a
39	MXI1	chr10:94352628-94353235	Hela-S3	cervix:	n/a	n/a
40	TAF1	chr10:94352529-94353290	K562	blood:	n/a	n/a
41	TAF1	chr10:94352451-94352934	GM12891	blood:	n/a	n/a
42	MYC	chr10:94352685-94352929	K562	blood:	n/a	n/a
43	EGR1	chr10:94352610-94352896	K562	blood:	n/a	chr10:94352770-94352783 chr10:94352775-94352785
44	HEY1	chr10:94352423-94353193	K562	blood:	n/a	chr10:94352770-94352785
45	PAX5	chr10:94352677-94353251	GM12892	blood:	n/a	n/a
46	BCL3	chr10:94352302-94353315	A549	lung:	n/a	chr10:94353094-94353107 chr10:94353072-94353081 chr10:94353084-94353092
47	NRF1	chr10:94352659-94353009	GM12878	blood:	n/a	chr10:94352819-94352833 chr10:94352816-94352830 chr10:94352818-94352829 chr10:94352775-94352784
48	CHD2	chr10:94352568-94353152	K562	blood:	n/a	n/a
49	STAT3	chr10:94352587-94352920	MCF10A-Er-Src	breast:	n/a	n/a
50	HCFC1	chr10:94352541-94353230	K562	blood:	n/a	n/a

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:94352726-94352776	AG09319	gingival:	n/a
2	chr10:94352726-94352776	HAEpiC	amniotic membrane:	n/a
3	chr10:94352700-94352750	Jurkat	blood:	n/a
4	chr10:94352726-94352776	K562	blood:	n/a
5	chr10:94352700-94352750	GM12891	blood:	n/a
6	chr10:94352700-94352750	HCPEpiC	choroid plexus:	n/a
7	chr10:94352726-94352776	SK-N-SH_RA	brain:	n/a
8	chr10:94352726-94352776	NB4	blood:	n/a
9	chr10:94352726-94352776	AoSMC	blood vessel:	n/a
10	chr10:94352700-94352750	SK-N-SH_RA	brain:	n/a
11	chr10:94352726-94352776	RPTEC	kidney:	n/a
12	chr10:94352700-94352750	HIPEpiC	eye:	n/a
13	chr10:94352726-94352776	HNPCEpiC	eye:	n/a
14	chr10:94352726-94352776	H1-hESC	embryonic stem cell:	embryo
15	chr10:94352700-94352750	NT2-D1	testis:	n/a
16	chr10:94352700-94352750	NH-A	brain:	n/a
17	chr10:94352700-94352750	HCT-116	colon:	n/a
18	chr10:94352726-94352776	U87	brain:	n/a
19	chr10:94352726-94352776	BE2_C	brain:	n/a
20	chr10:94352700-94352750	HCM	heart:	n/a
21	chr10:94352700-94352750	AG04449	skin:	fetal
22	chr10:94352726-94352776	AG04449	skin:	fetal
23	chr10:94352726-94352776	HCM	heart:	n/a
24	chr10:94352700-94352750	Hepatocyte	liver:	n/a
25	chr10:94352700-94352750	AG09319	gingival:	n/a
26	chr10:94352700-94352750	HepG2	liver:	n/a
27	chr10:94352700-94352750	GM12878	blood:	n/a
28	chr10:94352700-94352750	Hela-S3	cervix:	n/a
29	chr10:94352700-94352750	AG09309	skin:	n/a
30	chr10:94352726-94352776	MCF10A-Er-Src	breast:	n/a
31	chr10:94352726-94352776	GM12891	blood:	n/a
32	chr10:94352700-94352750	GM19239	blood:	n/a
33	chr10:94352700-94352750	HL-60	blood:	n/a
34	chr10:94352726-94352776	SK-N-SH	brain:	n/a
35	chr10:94352726-94352776	LNCaP	prostate:	n/a
36	chr10:94352700-94352750	HRE	kidney:	n/a
37	chr10:94352726-94352776	NT2-D1	testis:	n/a
38	chr10:94352726-94352776	Hela-S3	cervix:	n/a
39	chr10:94352700-94352750	NB4	blood:	n/a
40	chr10:94352726-94352776	T-47D	breast:	n/a
41	chr10:94352726-94352776	ECC-1	luminal epithelium:	n/a
42	chr10:94352726-94352776	GM12892	blood:	n/a
43	chr10:94352700-94352750	HMEC	breast:	n/a
44	chr10:94352700-94352750	HEK293	kidney:	embryo
45	chr10:94352700-94352750	GM12892	blood:	n/a
46	chr10:94352726-94352776	SAEC	small airway:	n/a
47	chr10:94352700-94352750	ovcar-3	ovarian:	n/a
48	chr10:94352700-94352750	AG10803	skin:	n/a
49	chr10:94352700-94352750	BE2_C	brain:	n/a
50	chr10:94352726-94352776	HRPEpiC	eye:	n/a

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr10:94351268..94354735-chr10:94355145..94359396,3	K562	blood:
2	chr10:94330286..94336827-chr10:94349891..94354260,15	K562	blood:
3	chr1:8938199..8938858-chr10:94352694..94353257,2	Hela-S3	cervix:
4	chr10:94329944..94332046-chr10:94350652..94352961,2	MCF-7	breast:
5	chr10:94346330..94348622-chr10:94350152..94352850,4	MCF-7	breast:
6	chr1:121484922..121485888-chr10:94352194..94352983,2	NB4	blood:
7	chr10:74927455..74928390-chr10:94352294..94352872,2	NB4	blood:
8	chr10:94351725..94353301-chr10:94589609..94592418,2	K562	blood:
9	chr10:94347817..94350094-chr10:94351075..94352910,3	MCF-7	breast:
10	chr10:94327650..94337583-chr10:94349444..94356782,22	K562	blood:
11	chr10:94351156..94354361-chr10:94606648..94609927,3	MCF-7	breast:
12	chr10:94352231..94352996-chr19:54960207..54960878,2	HCT-116	colon:
13	chr10:94349533..94356622-chr10:94447410..94453498,11	K562	blood:
14	chr10:94332407..94336018-chr10:94349212..94353201,7	MCF-7	breast:
15	chr10:94351298..94352921-chr10:94510059..94511770,2	K562	blood:
16	chr10:94351957..94352804-chr15:59664891..59665871,2	Hela-S3	cervix:
17	chr10:94343007..94345343-chr10:94351332..94352887,2	MCF-7	breast:
18	chr10:94352360..94353171-chr17:80605916..80606778,2	HCT-116	colon:
19	chr10:94352332..94352927-chr6:26031753..26032299,2	HCT-116	colon:
20	chr10:94349533..94354628-chr10:94448059..94453493,12	K562	blood:
21	chr10:94332262..94336114-chr10:94349834..94354042,11	MCF-7	breast:

No data

Variant related genes	Relation type
KIF11	TF binding region
KIF11	CpG island
ENSG00000119912	Chromatin interaction
ENSG00000122882	Chromatin interaction
ENSG00000138190	Chromatin interaction
ENSG00000157483	Chromatin interaction
ENSG00000167615	Chromatin interaction
ENSG00000152804	Chromatin interaction
ENSG00000157470	Chromatin interaction
ENSG00000141580	Chromatin interaction
ENSG00000138286	Chromatin interaction
ENSG00000184111	Chromatin interaction
ENSG00000124693	Chromatin interaction
ENSG00000226696	Chromatin interaction
ENSG00000074800	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs74151663	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74151666	1.00[AMR][1000 genomes]
rs74151673	1.00[AMR][1000 genomes]
rs74151679	0.81[AFR][1000 genomes];1.00[AMR][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	nsv1046258	chr10:93866969-94466106	Active TSS Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	esv1792868	chr10:94232247-94409749	Strong transcription Enhancers Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
3	nsv895894	chr10:94249982-94452430	Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
4	nsv895895	chr10:94304132-94372706	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:94350400-94353200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr10:94350600-94353200	Active TSS	Brain Substantia Nigra	brain
3	chr10:94350600-94353200	Active TSS	Rectal Mucosa Donor 29	rectum
4	chr10:94350600-94353600	Active TSS	Right Atrium	heart
5	chr10:94350600-94354400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
6	chr10:94350600-94354800	Active TSS	ES-I3 Cell Line	embryonic stem cell
7	chr10:94350600-94355000	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr10:94350600-94355200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr10:94350600-94355400	Active TSS	GM12878-XiMat	blood
10	chr10:94350600-94355600	Active TSS	HUES6 Cell Line	embryonic stem cell
11	chr10:94350600-94355800	Active TSS	iPS-15b Cell Line	embryonic stem cell
12	chr10:94350800-94352800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr10:94350800-94353000	Active TSS	Duodenum Smooth Muscle	Duodenum
14	chr10:94350800-94353000	Active TSS	Stomach Smooth Muscle	stomach
15	chr10:94350800-94353400	Active TSS	Psoas Muscle	Psoas
16	chr10:94350800-94353800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr10:94350800-94354000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
18	chr10:94350800-94354800	Active TSS	Fetal Brain Female	brain
19	chr10:94350800-94355000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr10:94350800-94355600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr10:94350800-94355800	Active TSS	Thymus	Thymus
22	chr10:94351000-94353000	Active TSS	Right Ventricle	heart
23	chr10:94351000-94353000	Active TSS	Skeletal Muscle Female	skeletal muscle
24	chr10:94351000-94353200	Active TSS	Brain Angular Gyrus	brain
25	chr10:94351000-94353400	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr10:94351000-94353400	Active TSS	Left Ventricle	heart
27	chr10:94351000-94353600	Active TSS	Brain Anterior Caudate	brain
28	chr10:94351000-94354200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr10:94351000-94354200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
30	chr10:94351000-94354800	Active TSS	H1 Cell Line	embryonic stem cell
31	chr10:94351000-94354800	Active TSS	HSMM	muscle
32	chr10:94351000-94355000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr10:94351000-94355200	Active TSS	H9 Cell Line	embryonic stem cell
34	chr10:94351000-94355600	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr10:94351000-94356600	Active TSS	K562	blood
36	chr10:94351200-94353000	Active TSS	Brain Inferior Temporal Lobe	brain
37	chr10:94351200-94353000	Active TSS	Colonic Mucosa	Colon
38	chr10:94351200-94353000	Active TSS	Rectal Smooth Muscle	rectum
39	chr10:94351200-94353200	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr10:94351200-94353200	Active TSS	Primary T cells from cord blood	blood
41	chr10:94351200-94353200	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr10:94351200-94353200	Active TSS	Brain Hippocampus Middle	brain
43	chr10:94351200-94353200	Active TSS	Esophagus	oesophagus
44	chr10:94351200-94353200	Active TSS	Rectal Mucosa Donor 31	rectum
45	chr10:94351200-94353400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
46	chr10:94351200-94353400	Active TSS	Colon Smooth Muscle	Colon
47	chr10:94351200-94353400	Active TSS	Fetal Lung	lung
48	chr10:94351200-94353400	Active TSS	Ovary	ovary
49	chr10:94351200-94353400	Active TSS	Pancreas	Pancrea
50	chr10:94351200-94353800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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