Variant report

Variant	rs7624768
Chromosome Location	chr3:119422312-119422313
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAX	chr3:119421532-119422339	ECC-1	luminal epithelium:	n/a	n/a
2	MXI1	chr3:119421136-119423363	SK-N-SH	brain:	n/a	n/a
3	MAX	chr3:119421561-119422389	ECC-1	luminal epithelium:	n/a	n/a
4	MAX	chr3:119421544-119422370	A549	lung:	n/a	n/a
5	SIN3A	chr3:119421460-119422472	H1-hESC	embryonic stem cell:	n/a	chr3:119422198-119422208 chr3:119422137-119422150
6	MAZ	chr3:119421350-119422533	IMR90	lung:	n/a	n/a
7	E2F6	chr3:119421665-119422408	H1-hESC	embryonic stem cell:	n/a	chr3:119422278-119422285
8	MAX	chr3:119421605-119422332	SK-N-SH	brain:	n/a	n/a
9	ZBTB7A	chr3:119421870-119422396	ECC-1	luminal epithelium:	n/a	chr3:119422299-119422310
10	CTCF	chr3:119422200-119422350	GM12864	blood:	n/a	chr3:119422230-119422243
11	REST	chr3:119421254-119422386	H1-neurons	neurons:	n/a	chr3:119422137-119422150 chr3:119422199-119422208
12	MAX	chr3:119421256-119422379	H1-hESC	embryonic stem cell:	n/a	n/a
13	ELF1	chr3:119421603-119422375	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:119422283-119422333	AG04450	lung:	fetal
2	chr3:119422283-119422333	AG09319	gingival:	n/a
3	chr3:119422283-119422333	SK-N-MC	brain:	n/a
4	chr3:119422283-119422333	HepG2	liver:	n/a
5	chr3:119422283-119422333	SAEC	small airway:	n/a
6	chr3:119422283-119422333	NT2-D1	testis:	n/a
7	chr3:119422283-119422333	GM12892	blood:	n/a
8	chr3:119422283-119422333	HPAEpiC	pulmonary alveolar:	n/a
9	chr3:119422283-119422333	SKMC	muscle:	n/a
10	chr3:119422283-119422333	MCF10A-Er-Src	breast:	n/a
11	chr3:119422283-119422333	GM12878	blood:	n/a
12	chr3:119422283-119422333	A549	lung:	n/a
13	chr3:119422283-119422333	HNPCEpiC	eye:	n/a
14	chr3:119422283-119422333	RPTEC	kidney:	n/a
15	chr3:119422283-119422333	GM19239	blood:	n/a
16	chr3:119422283-119422333	HL-60	blood:	n/a
17	chr3:119422283-119422333	NB4	blood:	n/a
18	chr3:119422283-119422333	CMK	blood:	n/a
19	chr3:119422283-119422333	MCF-7	breast:	n/a
20	chr3:119422283-119422333	NHBE	bronchial:	n/a
21	chr3:119422283-119422333	LNCaP	prostate:	n/a
22	chr3:119422283-119422333	HIPEpiC	eye:	n/a
23	chr3:119422283-119422333	HRE	kidney:	n/a
24	chr3:119422283-119422333	HMEC	breast:	n/a
25	chr3:119422283-119422333	ProgFib	skin:	n/a
26	chr3:119422283-119422333	ECC-1	luminal epithelium:	n/a
27	chr3:119422283-119422333	BE2_C	brain:	n/a
28	chr3:119422283-119422333	H1-hESC	embryonic stem cell:	embryo
29	chr3:119422283-119422333	BJ	skin:	n/a
30	chr3:119422283-119422333	GM06990	blood:	n/a
31	chr3:119422283-119422333	AG04449	skin:	fetal
32	chr3:119422283-119422333	NHDF-neo	bronchial:	n/a
33	chr3:119422283-119422333	HCT-116	colon:	n/a
34	chr3:119422283-119422333	HRPEpiC	eye:	n/a
35	chr3:119422283-119422333	HCM	heart:	n/a
36	chr3:119422283-119422333	HEEpiC	esophagus:	n/a
37	chr3:119422283-119422333	HEK293	kidney:	embryo
38	chr3:119422283-119422333	ovcar-3	ovarian:	n/a
39	chr3:119422283-119422333	AoSMC	blood vessel:	n/a
40	chr3:119422283-119422333	T-47D	breast:	n/a
41	chr3:119422283-119422333	HCF	heart:	n/a
42	chr3:119422283-119422333	PANC-1	pancreas:	n/a
43	chr3:119422283-119422333	HUVEC	blood vessel:	n/a
44	chr3:119422283-119422333	PFSK-1	brain:	n/a
45	chr3:119422283-119422333	SK-N-SH	brain:	n/a
46	chr3:119422283-119422333	K562	blood:	n/a
47	chr3:119422283-119422333	Caco-2	colon:	n/a
48	chr3:119422283-119422333	IMR90	lung:	fetal
49	chr3:119422283-119422333	PrEC	prostate:	n/a
50	chr3:119422283-119422333	SK-N-SH_RA	brain:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:119393569..119396281-chr3:119421855..119424087,2	MCF-7	breast:

No data

Variant related genes	Relation type
MAATS1	TF binding region
MAATS1	CpG island
ENSG00000138495	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs10934497	0.85[AMR][1000 genomes]
rs4234663	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4234665	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4355316	0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4411917	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4579049	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4687878	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4687879	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4687880	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6438543	0.82[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6438544	0.96[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6792664	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7624672	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9834908	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460834	chr3:119384163-119458851	Active TSS Strong transcription Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
2	nsv591390	chr3:119384163-119458851	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
3	nsv591391	chr3:119403145-119442572	Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119421200-119422400	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
2	chr3:119421200-119422400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr3:119421200-119422400	Active TSS	Brain Angular Gyrus	brain
4	chr3:119421200-119422400	Active TSS	Colon Smooth Muscle	Colon
5	chr3:119421200-119422400	Flanking Active TSS	Duodenum Mucosa	Duodenum
6	chr3:119421200-119422600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr3:119421200-119422600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:119421200-119422600	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr3:119421200-119422600	Enhancers	Fetal Heart	heart
10	chr3:119421200-119422600	Active TSS	Fetal Lung	lung
11	chr3:119421200-119422600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr3:119421200-119423200	Active TSS	Brain Anterior Caudate	brain
13	chr3:119421200-119423400	Active TSS	Ovary	ovary
14	chr3:119421400-119422400	Active TSS	H9 Cell Line	embryonic stem cell
15	chr3:119421400-119422400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr3:119421400-119422400	Flanking Active TSS	Primary B cells from peripheral blood	blood
17	chr3:119421400-119422400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
18	chr3:119421400-119422400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr3:119421400-119422400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
20	chr3:119421400-119422400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
21	chr3:119421400-119422400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:119421400-119422400	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle
23	chr3:119421400-119422400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
24	chr3:119421400-119422400	Active TSS	HSMM	muscle
25	chr3:119421400-119422600	Active TSS	Breast Myoepithelial Primary Cells	Breast
26	chr3:119421400-119422600	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
27	chr3:119421400-119422600	Active TSS	Colonic Mucosa	Colon
28	chr3:119421400-119422600	Active TSS	Pancreas	Pancrea
29	chr3:119421400-119423000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
30	chr3:119421400-119423000	Active TSS	Fetal Kidney	kidney
31	chr3:119421400-119423200	Flanking Active TSS	Liver	Liver
32	chr3:119421400-119423200	Active TSS	Pancreatic Islets	Pancreatic Islet
33	chr3:119421600-119422400	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr3:119421600-119422400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr3:119421600-119422400	Active TSS	Left Ventricle	heart
36	chr3:119421600-119422400	Active TSS	Skeletal Muscle Female	skeletal muscle
37	chr3:119421600-119422400	Bivalent/Poised TSS	NHEK	skin
38	chr3:119421600-119422600	Active TSS	Brain Cingulate Gyrus	brain
39	chr3:119421600-119422800	Active TSS	Fetal Brain Female	brain
40	chr3:119421600-119423000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:119421600-119423000	Active TSS	Duodenum Smooth Muscle	Duodenum
42	chr3:119421800-119422400	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
43	chr3:119421800-119422400	Flanking Bivalent TSS/Enh	Fetal Adrenal Gland	Adrenal Gland
44	chr3:119421800-119422600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr3:119421800-119422600	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:119421800-119422800	Bivalent/Poised TSS	Primary T cells from cord blood	blood
47	chr3:119422000-119422400	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr3:119422000-119422400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
49	chr3:119422000-119422400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr3:119422000-119422400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood

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