Variant report

Variant	rs377110320
Chromosome Location	chr3:52931709-52931710
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:155)
CpG islands
(count:61)
Chromatin interactive
region (count:0)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:155 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MXI1	chr3:52930503-52932335	IMR90	lung:	n/a	n/a
2	POLR2A	chr3:52931383-52931955	HCT-116	colon:	n/a	n/a
3	POLR2A	chr3:52931354-52931993	MCF10A-Er-Src	breast:	n/a	n/a
4	TAF1	chr3:52931233-52931713	HepG2	liver:	n/a	n/a
5	POLR2A	chr3:52931224-52931851	PFSK-1	brain:	n/a	n/a
6	TAF1	chr3:52931433-52931712	Hela-S3	cervix:	n/a	n/a
7	SP1	chr3:52931383-52931939	H1-hESC	embryonic stem cell:	n/a	chr3:52931651-52931662 chr3:52931694-52931705 chr3:52931653-52931662
8	POLR2A	chr3:52931378-52931783	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr3:52931249-52931769	GM19099	blood:	n/a	n/a
10	TBL1XR1	chr3:52931641-52931885	GM12878	blood:	n/a	n/a
11	POLR2A	chr3:52931388-52931871	GM12878	blood:	n/a	n/a
12	POLR2A	chr3:52931276-52931847	PANC-1	pancreas:	n/a	n/a
13	HA-E2F1	chr3:52931125-52931926	MCF-7	breast:	n/a	chr3:52931534-52931541 chr3:52931873-52931887
14	BACH1	chr3:52931125-52931867	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr3:52931346-52931731	GM12892	blood:	n/a	n/a
16	UBTF	chr3:52931282-52931766	K562	blood:	n/a	n/a
17	POLR2A	chr3:52931433-52932079	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr3:52931328-52931734	GM12878	blood:	n/a	n/a
19	MXI1	chr3:52931421-52931936	Hela-S3	cervix:	n/a	n/a
20	NFYB	chr3:52931414-52931751	GM12878	blood:	n/a	n/a
21	MAZ	chr3:52930977-52932117	IMR90	lung:	n/a	chr3:52931778-52931789
22	POLR2A	chr3:52931427-52931779	PFSK-1	brain:	n/a	n/a
23	JUND	chr3:52931438-52931716	K562	blood:	n/a	chr3:52931631-52931640
24	MAX	chr3:52931112-52931730	SK-N-SH	brain:	n/a	n/a
25	RFX5	chr3:52931493-52931730	GM12878	blood:	n/a	n/a
26	POLR2A	chr3:52931308-52931859	MCF-7	breast:	n/a	n/a
27	POLR2A	chr3:52931371-52931745	K562	blood:	n/a	n/a
28	SMC3	chr3:52931472-52931712	Hela-S3	cervix:	n/a	n/a
29	POLR2A	chr3:52931251-52931750	Raji	blood:	n/a	n/a
30	POLR2A	chr3:52931270-52931913	GM12892	blood:	n/a	n/a
31	YY1	chr3:52931408-52931873	HepG2	liver:	n/a	chr3:52931477-52931488 chr3:52931583-52931597
32	POLR2A	chr3:52931311-52931770	K562	blood:	n/a	n/a
33	MAX	chr3:52931175-52931801	A549	lung:	n/a	chr3:52931778-52931789
34	POLR2A	chr3:52931271-52931962	HCT-116	colon:	n/a	n/a
35	POLR2A	chr3:52931367-52931740	K562	blood:	n/a	n/a
36	POLR2A	chr3:52931234-52931764	HUVEC	blood vessel:	n/a	n/a
37	SIN3AK20	chr3:52931184-52931797	SK-N-SH	brain:	n/a	n/a
38	POLR2A	chr3:52931200-52931877	K562	blood:	n/a	n/a
39	ZNF143	chr3:52931360-52931754	GM12878	blood:	n/a	chr3:52931522-52931532 chr3:52931574-52931584
40	POLR2A	chr3:52931252-52931804	HUVEC	blood vessel:	n/a	n/a
41	NFYA	chr3:52931414-52931739	Hela-S3	cervix:	n/a	n/a
42	REST	chr3:52931124-52932264	H1-neurons	neurons:	n/a	chr3:52931847-52931860
43	CREB1	chr3:52931252-52931876	HepG2	liver:	n/a	n/a
44	POLR2A	chr3:52931289-52931730	GM18526	blood:	n/a	n/a
45	MAZ	chr3:52931241-52931930	Hela-S3	cervix:	n/a	chr3:52931778-52931789
46	CHD2	chr3:52931322-52931763	GM12878	blood:	n/a	n/a
47	POLR2A	chr3:52931405-52931757	SK-N-SH	brain:	n/a	n/a
48	POLR2A	chr3:52931238-52931923	Hela-S3	cervix:	n/a	n/a
49	TAF1	chr3:52931241-52931725	GM12878	blood:	n/a	n/a
50	MYC	chr3:52931460-52932100	MCF10A-Er-Src	breast:	n/a	chr3:52931778-52931789

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:52931664-52931714	BJ	skin:	n/a
2	chr3:52931664-52931714	Caco-2	colon:	n/a
3	chr3:52931664-52931714	HCT-116	colon:	n/a
4	chr3:52931664-52931714	MCF10A-Er-Src	breast:	n/a
5	chr3:52931664-52931714	GM06990	blood:	n/a
6	chr3:52931664-52931714	SKMC	muscle:	n/a
7	chr3:52931664-52931714	SAEC	small airway:	n/a
8	chr3:52931664-52931714	HCPEpiC	choroid plexus:	n/a
9	chr3:52931664-52931714	NHBE	bronchial:	n/a
10	chr3:52931664-52931714	ovcar-3	ovarian:	n/a
11	chr3:52931664-52931714	NH-A	brain:	n/a
12	chr3:52931664-52931714	HPAEpiC	pulmonary alveolar:	n/a
13	chr3:52931664-52931714	HCF	heart:	n/a
14	chr3:52931664-52931714	NT2-D1	testis:	n/a
15	chr3:52931664-52931714	H1-hESC	embryonic stem cell:	embryo
16	chr3:52931664-52931714	CMK	blood:	n/a
17	chr3:52931664-52931714	SK-N-MC	brain:	n/a
18	chr3:52931664-52931714	U87	brain:	n/a
19	chr3:52931664-52931714	AoSMC	blood vessel:	n/a
20	chr3:52931664-52931714	IMR90	lung:	fetal
21	chr3:52931664-52931714	ProgFib	skin:	n/a
22	chr3:52931664-52931714	HUVEC	blood vessel:	n/a
23	chr3:52931664-52931714	AG09319	gingival:	n/a
24	chr3:52931664-52931714	RPTEC	kidney:	n/a
25	chr3:52931664-52931714	HNPCEpiC	eye:	n/a
26	chr3:52931664-52931714	HL-60	blood:	n/a
27	chr3:52931664-52931714	Jurkat	blood:	n/a
28	chr3:52931664-52931714	LNCaP	prostate:	n/a
29	chr3:52931664-52931714	HRCEpiC	kidney:	n/a
30	chr3:52931664-52931714	HCM	heart:	n/a
31	chr3:52931664-52931714	HEK293	kidney:	embryo
32	chr3:52931664-52931714	ECC-1	luminal epithelium:	n/a
33	chr3:52931664-52931714	NB4	blood:	n/a
34	chr3:52931664-52931714	AG04449	skin:	fetal
35	chr3:52931664-52931714	K562	blood:	n/a
36	chr3:52931664-52931714	AG09309	skin:	n/a
37	chr3:52931664-52931714	Hepatocyte	liver:	n/a
38	chr3:52931664-52931714	SK-N-SH_RA	brain:	n/a
39	chr3:52931664-52931714	AG04450	lung:	fetal
40	chr3:52931664-52931714	AG10803	skin:	n/a
41	chr3:52931664-52931714	GM19239	blood:	n/a
42	chr3:52931664-52931714	HIPEpiC	eye:	n/a
43	chr3:52931664-52931714	GM12878	blood:	n/a
44	chr3:52931664-52931714	HAEpiC	amniotic membrane:	n/a
45	chr3:52931664-52931714	A549	lung:	n/a
46	chr3:52931664-52931714	Hela-S3	cervix:	n/a
47	chr3:52931664-52931714	GM12891	blood:	n/a
48	chr3:52931664-52931714	NHDF-neo	bronchial:	n/a
49	chr3:52931664-52931714	BE2_C	brain:	n/a
50	chr3:52931664-52931714	PrEC	prostate:	n/a

No data

Variant related genes	Relation type
TMEM110	TF binding region
TMEM110-MUSTN1	TF binding region
TMEM110-MUSTN1	CpG island
TMEM110	CpG island

Extended variants
information (count: 3 )
Associated
traits (count: 0)

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	esv2762328	chr3:52774884-53002150	Strong transcription Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv3446915	chr3:52786850-53049217	Strong transcription Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
3	esv3339338	chr3:52930462-52933260	Active TSS Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	2 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	chr3:52929800-52932200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr3:52929800-52932200	Flanking Active TSS	Primary hematopoietic stem cells	blood
3	chr3:52930000-52932000	Active TSS	H9 Cell Line	embryonic stem cell
4	chr3:52930000-52932200	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr3:52930000-52932200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr3:52930200-52932000	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr3:52930200-52932000	Active TSS	Right Atrium	heart
8	chr3:52930200-52932200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr3:52930200-52932200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:52930200-52932200	Active TSS	GM12878-XiMat	blood
11	chr3:52930400-52931800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
12	chr3:52930400-52931800	Active TSS	HepG2	liver
13	chr3:52930400-52932000	Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr3:52930400-52932000	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr3:52930400-52932000	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr3:52930400-52932000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:52930400-52932000	Active TSS	Aorta	Aorta
18	chr3:52930400-52932200	Active TSS	H1 Cell Line	embryonic stem cell
19	chr3:52930400-52932200	Active TSS	Fetal Kidney	kidney
20	chr3:52930400-52932200	Active TSS	Pancreatic Islets	Pancreatic Islet
21	chr3:52930400-52932200	Active TSS	Ovary	ovary
22	chr3:52930600-52931800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr3:52930600-52931800	Active TSS	HSMMtube	muscle
24	chr3:52930600-52932000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr3:52930600-52932000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr3:52930600-52932000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr3:52930600-52932000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr3:52930600-52932000	Flanking Active TSS	Primary B cells from cord blood	blood
29	chr3:52930800-52931800	Active TSS	Primary T helper naive cells from peripheral blood	blood
30	chr3:52930800-52931800	Active TSS	Muscle Satellite Cultured Cells	--
31	chr3:52930800-52931800	Active TSS	Rectal Smooth Muscle	rectum
32	chr3:52930800-52931800	Active TSS	Stomach Mucosa	stomach
33	chr3:52930800-52931800	Active TSS	HMEC	breast
34	chr3:52930800-52932000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr3:52930800-52932000	Active TSS	iPS-18 Cell Line	embryonic stem cell
36	chr3:52930800-52932000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr3:52930800-52932000	Active TSS	Esophagus	oesophagus
38	chr3:52930800-52932000	Active TSS	A549	lung
39	chr3:52930800-52932200	Active TSS	NHLF	lung
40	chr3:52931000-52931800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr3:52931000-52931800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:52931000-52931800	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr3:52931000-52931800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
44	chr3:52931000-52931800	Active TSS	Primary T helper cells PMA-I stimulated	--
45	chr3:52931000-52931800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
46	chr3:52931000-52931800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr3:52931000-52931800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:52931000-52931800	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr3:52931000-52931800	Active TSS	Brain Anterior Caudate	brain
50	chr3:52931000-52931800	Active TSS	Duodenum Smooth Muscle	Duodenum

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