Variant report

Variant	rs573757968
Chromosome Location	chr3:49967744-49967745
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:28)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:28 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr3:49966679-49967817	K562	blood:	n/a	n/a
2	POLR2A	chr3:49966830-49967790	HUVEC	blood vessel:	n/a	n/a
3	HCFC1	chr3:49966646-49967880	Hela-S3	cervix:	n/a	n/a
4	MAX	chr3:49966622-49967834	HepG2	liver:	n/a	n/a
5	POLR2A	chr3:49966907-49967796	PANC-1	pancreas:	n/a	n/a
6	ZC3H11A	chr3:49967037-49967745	K562	blood:	n/a	n/a
7	SIN3AK20	chr3:49966619-49967755	HCT-116	colon:	n/a	n/a
8	JUN	chr3:49966690-49967837	K562	blood:	n/a	chr3:49966767-49966776
9	MYBL2	chr3:49966841-49967765	HepG2	liver:	n/a	n/a
10	POLR2A	chr3:49966780-49968209	HepG2	liver:	n/a	n/a
11	E2F4	chr3:49967122-49967933	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr3:49966856-49967749	HepG2	liver:	n/a	n/a
13	KAP1	chr3:49966853-49967751	HEK293	kidney:	n/a	n/a
14	ZNF384	chr3:49967146-49967777	GM12878	blood:	n/a	n/a
15	MAZ	chr3:49966618-49967948	IMR90	lung:	n/a	n/a
16	MAX	chr3:49966691-49967755	ECC-1	luminal epithelium:	n/a	n/a
17	REST	chr3:49966500-49967823	H1-neurons	neurons:	n/a	chr3:49967406-49967419 chr3:49967409-49967422 chr3:49967391-49967409
18	MXI1	chr3:49966578-49969002	SK-N-SH	brain:	n/a	n/a
19	POLR2A	chr3:49966856-49967812	U87	brain:	n/a	n/a
20	POLR2A	chr3:49966856-49967807	U87	brain:	n/a	n/a
21	POLR2A	chr3:49966799-49967874	K562	blood:	n/a	n/a
22	POLR2A	chr3:49966824-49967868	HUVEC	blood vessel:	n/a	n/a
23	HEY1	chr3:49966772-49967813	HepG2	liver:	n/a	n/a
24	MAX	chr3:49966607-49967910	HCT-116	colon:	n/a	n/a
25	ZNF384	chr3:49967155-49967980	K562	blood:	n/a	n/a
26	POLR2A	chr3:49966776-49967777	HepG2	liver:	n/a	n/a
27	MAX	chr3:49966651-49967807	ECC-1	luminal epithelium:	n/a	n/a
28	MAX	chr3:49966671-49967790	HepG2	liver:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:49967713-49967763	HCPEpiC	choroid plexus:	n/a
2	chr3:49967713-49967763	HepG2	liver:	n/a
3	chr3:49967713-49967763	NHDF-neo	bronchial:	n/a
4	chr3:49967713-49967763	K562	blood:	n/a
5	chr3:49967713-49967763	HEK293	kidney:	embryo
6	chr3:49967713-49967763	HIPEpiC	eye:	n/a
7	chr3:49967713-49967763	U87	brain:	n/a
8	chr3:49967713-49967763	NB4	blood:	n/a
9	chr3:49967713-49967763	AG10803	skin:	n/a
10	chr3:49967713-49967763	HEEpiC	esophagus:	n/a
11	chr3:49967713-49967763	Hela-S3	cervix:	n/a
12	chr3:49967713-49967763	NHBE	bronchial:	n/a
13	chr3:49967713-49967763	SKMC	muscle:	n/a
14	chr3:49967713-49967763	RPTEC	kidney:	n/a
15	chr3:49967713-49967763	SK-N-MC	brain:	n/a
16	chr3:49967713-49967763	ProgFib	skin:	n/a
17	chr3:49967713-49967763	SAEC	small airway:	n/a
18	chr3:49967713-49967763	GM06990	blood:	n/a
19	chr3:49967713-49967763	AG09309	skin:	n/a
20	chr3:49967713-49967763	A549	lung:	n/a
21	chr3:49967713-49967763	MCF-7	breast:	n/a
22	chr3:49967713-49967763	ECC-1	luminal epithelium:	n/a
23	chr3:49967713-49967763	PFSK-1	brain:	n/a
24	chr3:49967713-49967763	HAEpiC	amniotic membrane:	n/a
25	chr3:49967713-49967763	H1-hESC	embryonic stem cell:	embryo
26	chr3:49967713-49967763	Hepatocyte	liver:	n/a
27	chr3:49967713-49967763	PrEC	prostate:	n/a
28	chr3:49967713-49967763	LNCaP	prostate:	n/a
29	chr3:49967713-49967763	NT2-D1	testis:	n/a
30	chr3:49967713-49967763	HCM	heart:	n/a
31	chr3:49967713-49967763	HMEC	breast:	n/a
32	chr3:49967713-49967763	IMR90	lung:	fetal
33	chr3:49967713-49967763	Caco-2	colon:	n/a
34	chr3:49967713-49967763	GM12891	blood:	n/a
35	chr3:49967713-49967763	HRPEpiC	eye:	n/a
36	chr3:49967713-49967763	HRE	kidney:	n/a
37	chr3:49967713-49967763	HCT-116	colon:	n/a
38	chr3:49967713-49967763	AoSMC	blood vessel:	n/a
39	chr3:49967713-49967763	HNPCEpiC	eye:	n/a
40	chr3:49967713-49967763	SK-N-SH_RA	brain:	n/a
41	chr3:49967713-49967763	HCF	heart:	n/a
42	chr3:49967713-49967763	HPAEpiC	pulmonary alveolar:	n/a
43	chr3:49967713-49967763	BE2_C	brain:	n/a
44	chr3:49967713-49967763	AG04450	lung:	fetal
45	chr3:49967713-49967763	Jurkat	blood:	n/a
46	chr3:49967713-49967763	PANC-1	pancreas:	n/a
47	chr3:49967713-49967763	AG04449	skin:	fetal
48	chr3:49967713-49967763	GM12892	blood:	n/a
49	chr3:49967713-49967763	HRCEpiC	kidney:	n/a
50	chr3:49967713-49967763	BJ	skin:	n/a

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49892535..49894935-chr3:49965699..49968471,2	K562	blood:
2	chr3:49965505..49970003-chr3:49975811..49980300,11	K562	blood:
3	chr3:49840341..49842910-chr3:49967049..49969753,2	K562	blood:
4	chr3:49965568..49971141-chr3:49975411..49979217,7	MCF-7	breast:
5	chr3:49966957..49970009-chr3:49975972..49978983,5	MCF-7	breast:
6	chr3:49965505..49970003-chr3:49974970..49980028,17	K562	blood:
7	chr3:49966031..49968659-chr3:50125180..50127794,3	K562	blood:
8	chr3:49750537..49752087-chr3:49966182..49968764,2	K562	blood:
9	chr3:49966762..49969614-chr3:50125142..50129125,3	K562	blood:

No data

Variant related genes	Relation type
MON1A	TF binding region
MON1A	CpG island
ENSG00000185614	Chromatin interaction
ENSG00000004534	Chromatin interaction
ENSG00000003756	Chromatin interaction
ENSG00000164068	Chromatin interaction
ENSG00000183763	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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	nsv834688	chr3:49811115-50019299	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	nsv876767	chr3:49918751-50153356	Active TSS Genic enhancers Weak transcription Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv834689	chr3:49962930-50085119	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
4	nsv965334	chr3:49967342-50000012	Flanking Active TSS Enhancers Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:49966000-49967800	Active TSS	Fetal Kidney	kidney
2	chr3:49966000-49968200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
3	chr3:49966200-49967800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr3:49966200-49967800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr3:49966200-49967800	Active TSS	Brain Hippocampus Middle	brain
6	chr3:49966200-49968000	Active TSS	Psoas Muscle	Psoas
7	chr3:49966200-49968200	Flanking Active TSS	Adipose Nuclei	Adipose
8	chr3:49966400-49967800	Active TSS	Breast Myoepithelial Primary Cells	Breast
9	chr3:49966400-49968000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr3:49966400-49968000	Active TSS	Brain Cingulate Gyrus	brain
11	chr3:49966400-49968000	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr3:49966400-49968000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr3:49966400-49968000	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr3:49966600-49967800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
15	chr3:49966600-49967800	Flanking Active TSS	Primary T cells fromperipheralblood	blood
16	chr3:49966600-49967800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
17	chr3:49966600-49967800	Active TSS	Fetal Stomach	stomach
18	chr3:49966600-49967800	Flanking Active TSS	Fetal Thymus	thymus
19	chr3:49966600-49967800	Active TSS	Left Ventricle	heart
20	chr3:49966600-49967800	Active TSS	Ovary	ovary
21	chr3:49966600-49967800	Active TSS	Pancreas	Pancrea
22	chr3:49966600-49967800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
23	chr3:49966600-49968000	Active TSS	Right Atrium	heart
24	chr3:49966600-49968000	Active TSS	K562	blood
25	chr3:49966600-49968200	Active TSS	ES-I3 Cell Line	embryonic stem cell
26	chr3:49966600-49968200	Active TSS	Rectal Mucosa Donor 29	rectum
27	chr3:49966800-49967800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:49966800-49967800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
29	chr3:49966800-49967800	Active TSS	Aorta	Aorta
30	chr3:49966800-49967800	Active TSS	Small Intestine	intestine
31	chr3:49966800-49967800	Active TSS	Stomach Mucosa	stomach
32	chr3:49966800-49968000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr3:49967000-49967800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr3:49967000-49967800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr3:49967000-49967800	Active TSS	Brain Substantia Nigra	brain
36	chr3:49967000-49968000	Active TSS	Colonic Mucosa	Colon
37	chr3:49967200-49967800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr3:49967200-49967800	Flanking Active TSS	NH-A	brain
39	chr3:49967200-49968000	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr3:49967200-49968200	Active TSS	HepG2	liver
41	chr3:49967400-49967800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr3:49967400-49967800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
43	chr3:49967400-49967800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr3:49967400-49967800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr3:49967400-49967800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
46	chr3:49967400-49967800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:49967400-49967800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr3:49967400-49967800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
49	chr3:49967400-49967800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
50	chr3:49967400-49967800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood

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