Variant report

Variant	rs74095727
Chromosome Location	chr1:85464046-85464047
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	EBF1	chr1:85461040-85464248	GM12878	blood:	n/a	chr1:85463075-85463084 chr1:85462912-85462922 chr1:85463073-85463084
2	POLR2A	chr1:85459671-85465061	GM12892	blood:	n/a	n/a
3	TCF7L2	chr1:85463483-85464827	PANC-1	pancreas:	n/a	n/a
4	POLR2A	chr1:85461049-85464327	GM18951	blood:	n/a	n/a
5	POLR2A	chr1:85463756-85464116	H1-neurons	neurons:	n/a	n/a
6	POLR2A	chr1:85461494-85464994	GM12892	blood:	n/a	n/a
7	POLR2A	chr1:85461102-85464291	GM18526	blood:	n/a	n/a
8	MTA3	chr1:85460680-85464125	GM12878	blood:	n/a	n/a
9	CTBP2	chr1:85462997-85464123	H1-hESC	embryonic stem cell:	n/a	n/a
10	NFATC1	chr1:85463463-85464051	GM12878	blood:	n/a	n/a
11	POLR2A	chr1:85459807-85464317	GM12892	blood:	n/a	n/a
12	WRNIP1	chr1:85464037-85465106	GM12878	blood:	n/a	n/a
13	MXI1	chr1:85463646-85464215	GM12878	blood:	n/a	n/a
14	MAZ	chr1:85463929-85464429	GM12878	blood:	n/a	n/a
15	POLR2A	chr1:85463830-85464310	H1-neurons	neurons:	n/a	n/a
16	POLR2A	chr1:85459795-85464999	GM12878	blood:	n/a	n/a
17	E2F6	chr1:85463755-85464314	H1-hESC	embryonic stem cell:	n/a	chr1:85463978-85463987
18	SIN3A	chr1:85463123-85464120	H1-hESC	embryonic stem cell:	n/a	chr1:85463135-85463148 chr1:85464028-85464039
19	POLR2A	chr1:85460981-85465011	GM19099	blood:	n/a	n/a
20	POLR2A	chr1:85461031-85464258	GM12892	blood:	n/a	n/a
21	E2F6	chr1:85463792-85464377	H1-hESC	embryonic stem cell:	n/a	chr1:85463978-85463987
22	MAX	chr1:85463754-85464187	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr1:85461099-85464971	GM19193	blood:	n/a	n/a
24	SUZ12	chr1:85461677-85465137	NT2-D1	testis:	n/a	n/a
25	SUZ12	chr1:85463167-85464252	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr1:85463908-85464334	GM12892	blood:	n/a	n/a
27	RUNX3	chr1:85464022-85464437	GM12878	blood:	n/a	n/a
28	POLR2A	chr1:85461512-85464970	GM12878	blood:	n/a	n/a
29	POLR2A	chr1:85459862-85464245	GM18505	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr1:85464000-85464050	HCT-116	colon:	n/a
2	chr1:85464000-85464050	HUVEC	blood vessel:	n/a
3	chr1:85464000-85464050	ProgFib	skin:	n/a
4	chr1:85464000-85464050	LNCaP	prostate:	n/a
5	chr1:85464000-85464050	MCF-7	breast:	n/a
6	chr1:85464000-85464050	NB4	blood:	n/a
7	chr1:85464000-85464050	HPAEpiC	pulmonary alveolar:	n/a
8	chr1:85464000-85464050	NHDF-neo	bronchial:	n/a
9	chr1:85464000-85464050	HEEpiC	esophagus:	n/a
10	chr1:85464000-85464050	NH-A	brain:	n/a
11	chr1:85464000-85464050	HMEC	breast:	n/a
12	chr1:85464000-85464050	NT2-D1	testis:	n/a
13	chr1:85464000-85464050	GM06990	blood:	n/a
14	chr1:85464000-85464050	HAEpiC	amniotic membrane:	n/a
15	chr1:85464000-85464050	AG10803	skin:	n/a
16	chr1:85464000-85464050	HCPEpiC	choroid plexus:	n/a
17	chr1:85464000-85464050	BJ	skin:	n/a
18	chr1:85464000-85464050	AG09319	gingival:	n/a
19	chr1:85464000-85464050	CMK	blood:	n/a
20	chr1:85464000-85464050	HCM	heart:	n/a
21	chr1:85464000-85464050	ovcar-3	ovarian:	n/a
22	chr1:85464000-85464050	PFSK-1	brain:	n/a
23	chr1:85464000-85464050	GM12878	blood:	n/a
24	chr1:85464000-85464050	T-47D	breast:	n/a
25	chr1:85464000-85464050	Hela-S3	cervix:	n/a
26	chr1:85464000-85464050	K562	blood:	n/a
27	chr1:85464000-85464050	GM12892	blood:	n/a
28	chr1:85464000-85464050	SKMC	muscle:	n/a
29	chr1:85464000-85464050	Caco-2	colon:	n/a
30	chr1:85464000-85464050	ECC-1	luminal epithelium:	n/a
31	chr1:85464000-85464050	HIPEpiC	eye:	n/a
32	chr1:85464000-85464050	HepG2	liver:	n/a
33	chr1:85464000-85464050	MCF10A-Er-Src	breast:	n/a
34	chr1:85464000-85464050	AG09309	skin:	n/a
35	chr1:85464000-85464050	AoSMC	blood vessel:	n/a
36	chr1:85464000-85464050	Hepatocyte	liver:	n/a
37	chr1:85464000-85464050	SK-N-SH_RA	brain:	n/a
38	chr1:85464000-85464050	SK-N-SH	brain:	n/a
39	chr1:85464000-85464050	HRCEpiC	kidney:	n/a
40	chr1:85464000-85464050	HL-60	blood:	n/a
41	chr1:85464000-85464050	AG04450	lung:	fetal
42	chr1:85464000-85464050	HEK293	kidney:	embryo
43	chr1:85464000-85464050	BE2_C	brain:	n/a
44	chr1:85464000-85464050	HCF	heart:	n/a
45	chr1:85464000-85464050	HRE	kidney:	n/a
46	chr1:85464000-85464050	H1-hESC	embryonic stem cell:	embryo
47	chr1:85464000-85464050	PrEC	prostate:	n/a
48	chr1:85464000-85464050	SK-N-MC	brain:	n/a
49	chr1:85464000-85464050	AG04449	skin:	fetal
50	chr1:85464000-85464050	NHBE	bronchial:	n/a

No data

Variant related genes	Relation type
WDR63	TF binding region
MCOLN2	TF binding region
MCOLN2	CpG island
WDR63	CpG island

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11800303	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs11807839	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11808352	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs56254105	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56973472	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs57386218	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59019108	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60296374	0.91[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6657216	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095734	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095735	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095737	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74095739	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7545349	0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7546496	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs7551619	0.96[AFR][1000 genomes];0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830448	chr1:85294094-85491110	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
2	nsv470724	chr1:85334788-85585260	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv462383	chr1:85334788-85594466	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
4	nsv546700	chr1:85334788-85594466	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
5	nsv947434	chr1:85334915-85594135	Bivalent/Poised TSS Enhancers Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	esv3515392	chr1:85437980-85465392	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
7	esv3515393	chr1:85437980-85465392	Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
8	nsv1006994	chr1:85454304-86327679	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
9	esv3410983	chr1:85461789-85464337	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:85461600-85464400	Active TSS	Primary T helper naive cells from peripheral blood	blood
2	chr1:85461800-85464400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr1:85461800-85464600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
4	chr1:85462000-85464200	Bivalent/Poised TSS	Brain Substantia Nigra	brain
5	chr1:85462000-85464400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:85462000-85464400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
7	chr1:85462000-85464600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
8	chr1:85462200-85464200	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
9	chr1:85462200-85464200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
10	chr1:85462200-85464200	Active TSS	Aorta	Aorta
11	chr1:85462400-85464200	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr1:85462400-85464200	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr1:85462400-85464200	Bivalent/Poised TSS	HSMM	muscle
14	chr1:85462400-85464400	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
15	chr1:85462400-85464400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr1:85462400-85464400	Active TSS	Right Atrium	heart
17	chr1:85462600-85464200	Active TSS	Primary T killer memory cells from peripheral blood	blood
18	chr1:85462600-85464200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
19	chr1:85462600-85464200	Bivalent/Poised TSS	NHLF	lung
20	chr1:85462600-85464400	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr1:85462600-85464400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr1:85462600-85464400	Active TSS	Brain Angular Gyrus	brain
23	chr1:85462600-85464600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
24	chr1:85463000-85464200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:85463000-85464200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
26	chr1:85463000-85464200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
27	chr1:85463000-85464200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:85463000-85464200	Flanking Bivalent TSS/Enh	Skeletal Muscle Female	skeletal muscle
29	chr1:85463000-85464200	Flanking Bivalent TSS/Enh	HMEC	breast
30	chr1:85463000-85464400	Flanking Bivalent TSS/Enh	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr1:85463000-85464400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr1:85463000-85464400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
33	chr1:85463000-85464400	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
34	chr1:85463000-85464400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:85463000-85464400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr1:85463000-85464400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:85463000-85464400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:85463000-85464400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:85463000-85464400	Flanking Bivalent TSS/Enh	Duodenum Mucosa	Duodenum
40	chr1:85463000-85464400	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 29	rectum
41	chr1:85463000-85464600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
42	chr1:85463000-85464800	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
43	chr1:85463000-85464800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr1:85463200-85464200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
45	chr1:85463200-85464200	Flanking Bivalent TSS/Enh	Rectal Mucosa Donor 31	rectum
46	chr1:85463200-85464400	Flanking Bivalent TSS/Enh	Muscle Satellite Cultured Cells	--
47	chr1:85463200-85464400	Bivalent Enhancer	Fetal Heart	heart
48	chr1:85463200-85464400	Flanking Bivalent TSS/Enh	NH-A	brain
49	chr1:85463200-85464600	Flanking Bivalent TSS/Enh	Primary T cells from cord blood	blood
50	chr1:85463200-85464800	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood

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