Variant report

Variant	rs376033935
Chromosome Location	chr3:142837999-142838000
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:181)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:181 , 50 per page) page: 1 2 3 4

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	UBTF	chr3:142837331-142839986	K562	blood:	n/a	n/a
2	MXI1	chr3:142837650-142838810	GM12878	blood:	n/a	n/a
3	POLR2A	chr3:142837413-142839052	K562	blood:	n/a	n/a
4	PML	chr3:142837737-142838834	K562	blood:	n/a	n/a
5	POLR2A	chr3:142837303-142839328	K562	blood:	n/a	n/a
6	RCOR1	chr3:142837883-142838026	GM12878	blood:	n/a	n/a
7	CREB1	chr3:142837717-142839100	GM12878	blood:	n/a	n/a
8	ZNF263	chr3:142837735-142839609	HEK293-T-REx	kidney:	n/a	chr3:142839428-142839437
9	MAX	chr3:142837797-142838844	A549	lung:	n/a	n/a
10	EGR1	chr3:142837816-142838236	K562	blood:	n/a	n/a
11	POLR2A	chr3:142837773-142841232	GM19193	blood:	n/a	n/a
12	PAX5	chr3:142837734-142838093	GM12878	blood:	n/a	chr3:142837982-142838000
13	POLR2A	chr3:142837235-142842973	GM12878	blood:	n/a	n/a
14	MAX	chr3:142837718-142838730	K562	blood:	n/a	n/a
15	FOXM1	chr3:142837661-142838342	GM12878	blood:	n/a	n/a
16	POLR2A	chr3:142837418-142838863	Raji	blood:	n/a	n/a
17	ETS1	chr3:142837766-142838257	K562	blood:	n/a	n/a
18	POLR2A	chr3:142837371-142841744	GM12892	blood:	n/a	n/a
19	STAT5A	chr3:142837660-142838391	K562	blood:	n/a	n/a
20	POLR2A	chr3:142837327-142842927	GM12891	blood:	n/a	n/a
21	POLR2A	chr3:142837450-142838856	K562	blood:	n/a	n/a
22	POLR2A	chr3:142836914-142843085	GM12891	blood:	n/a	n/a
23	E2F4	chr3:142837855-142839159	K562	blood:	n/a	chr3:142838688-142838696 chr3:142838683-142838698 chr3:142838425-142838435 chr3:142838688-142838696 chr3:142838914-142838924 chr3:142838688-142838695 chr3:142838911-142838921 chr3:142838694-142838704 chr3:142838688-142838695 chr3:142838688-142838695 chr3:142838697-142838707 chr3:142838917-142838927 chr3:142838687-142838697 chr3:142838700-142838710
24	MAX	chr3:142837708-142838862	A549	lung:	n/a	n/a
25	GABPA	chr3:142837741-142838876	K562	blood:	n/a	chr3:142838115-142838124 chr3:142837992-142837999
26	SMC3	chr3:142837847-142838113	K562	blood:	n/a	n/a
27	GABPA	chr3:142837776-142838180	K562	blood:	n/a	chr3:142838115-142838124 chr3:142837992-142837999
28	ZNF384	chr3:142837776-142838350	K562	blood:	n/a	n/a
29	YY1	chr3:142837844-142838489	GM12878	blood:	n/a	chr3:142838082-142838096 chr3:142838292-142838301
30	SMC3	chr3:142837804-142838451	GM12878	blood:	n/a	n/a
31	POLR2A	chr3:142837796-142841213	GM12878	blood:	n/a	n/a
32	MAX	chr3:142837801-142838740	K562	blood:	n/a	n/a
33	PML	chr3:142837665-142840120	GM12878	blood:	n/a	n/a
34	POLR2A	chr3:142837397-142840013	GM12892	blood:	n/a	n/a
35	E2F6	chr3:142837786-142838243	K562	blood:	n/a	n/a
36	POLR2A	chr3:142837372-142842950	GM12891	blood:	n/a	n/a
37	MAX	chr3:142837717-142838729	ECC-1	luminal epithelium:	n/a	n/a
38	TCF12	chr3:142837838-142838440	ECC-1	luminal epithelium:	n/a	n/a
39	TBP	chr3:142837958-142838053	GM12878	blood:	n/a	n/a
40	ZBTB7A	chr3:142837837-142839574	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr3:142837824-142840822	GM12878	blood:	n/a	n/a
42	ZBTB7A	chr3:142837710-142838501	K562	blood:	n/a	n/a
43	TAF1	chr3:142837718-142838313	K562	blood:	n/a	n/a
44	EGR1	chr3:142837770-142838695	K562	blood:	n/a	n/a
45	TBP	chr3:142837414-142838827	K562	blood:	n/a	n/a
46	CHD2	chr3:142837571-142838746	H1-hESC	embryonic stem cell:	n/a	n/a
47	ZMIZ1	chr3:142837692-142838344	K562	blood:	n/a	n/a
48	POLR2A	chr3:142837844-142838863	GM19099	blood:	n/a	n/a
49	BHLHE40	chr3:142837636-142838338	K562	blood:	n/a	n/a
50	SIN3A	chr3:142837580-142840494	H1-hESC	embryonic stem cell:	n/a	chr3:142839059-142839070 chr3:142839574-142839587 chr3:142839203-142839214 chr3:142838852-142838863 chr3:142839021-142839030

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:142837995-142838045	ProgFib	skin:	n/a
2	chr3:142837995-142838045	A549	lung:	n/a
3	chr3:142837995-142838045	U87	brain:	n/a
4	chr3:142837995-142838045	AG04449	skin:	fetal
5	chr3:142837995-142838045	Hela-S3	cervix:	n/a
6	chr3:142837995-142838045	BJ	skin:	n/a
7	chr3:142837995-142838045	HepG2	liver:	n/a
8	chr3:142837995-142838045	HL-60	blood:	n/a
9	chr3:142837995-142838045	NHDF-neo	bronchial:	n/a
10	chr3:142837995-142838045	IMR90	lung:	fetal
11	chr3:142837995-142838045	NH-A	brain:	n/a
12	chr3:142837995-142838045	HCF	heart:	n/a
13	chr3:142837995-142838045	NHBE	bronchial:	n/a
14	chr3:142837995-142838045	MCF10A-Er-Src	breast:	n/a
15	chr3:142837995-142838045	HCPEpiC	choroid plexus:	n/a
16	chr3:142837995-142838045	HEEpiC	esophagus:	n/a
17	chr3:142837995-142838045	GM12892	blood:	n/a
18	chr3:142837995-142838045	SKMC	muscle:	n/a
19	chr3:142837995-142838045	SK-N-MC	brain:	n/a
20	chr3:142837995-142838045	HPAEpiC	pulmonary alveolar:	n/a
21	chr3:142837995-142838045	ECC-1	luminal epithelium:	n/a
22	chr3:142837995-142838045	HCT-116	colon:	n/a
23	chr3:142837995-142838045	HCM	heart:	n/a
24	chr3:142837995-142838045	AG04450	lung:	fetal
25	chr3:142837995-142838045	HNPCEpiC	eye:	n/a
26	chr3:142837995-142838045	GM19239	blood:	n/a
27	chr3:142837995-142838045	Hepatocyte	liver:	n/a
28	chr3:142837995-142838045	HRE	kidney:	n/a
29	chr3:142837995-142838045	SK-N-SH	brain:	n/a
30	chr3:142837995-142838045	AG10803	skin:	n/a
31	chr3:142837995-142838045	Caco-2	colon:	n/a
32	chr3:142837995-142838045	HMEC	breast:	n/a
33	chr3:142837995-142838045	BE2_C	brain:	n/a
34	chr3:142837995-142838045	NT2-D1	testis:	n/a
35	chr3:142837995-142838045	AG09309	skin:	n/a
36	chr3:142837995-142838045	PANC-1	pancreas:	n/a
37	chr3:142837995-142838045	Jurkat	blood:	n/a
38	chr3:142837995-142838045	K562	blood:	n/a
39	chr3:142837995-142838045	LNCaP	prostate:	n/a
40	chr3:142837995-142838045	HEK293	kidney:	embryo
41	chr3:142837995-142838045	AoSMC	blood vessel:	n/a
42	chr3:142837995-142838045	HUVEC	blood vessel:	n/a
43	chr3:142837995-142838045	GM06990	blood:	n/a
44	chr3:142837995-142838045	HRCEpiC	kidney:	n/a
45	chr3:142837995-142838045	GM12891	blood:	n/a
46	chr3:142837995-142838045	GM12878	blood:	n/a
47	chr3:142837995-142838045	T-47D	breast:	n/a
48	chr3:142837995-142838045	AG09319	gingival:	n/a
49	chr3:142837995-142838045	RPTEC	kidney:	n/a
50	chr3:142837995-142838045	HIPEpiC	eye:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:142295506..142297981-chr3:142837321..142839389,2	K562	blood:
2	chr3:142755305..142760138-chr3:142835756..142840820,6	K562	blood:

No data

Variant related genes	Relation type
CHST2	TF binding region
ENSG00000241679	TF binding region
CHST2	CpG island
ENSG00000241679	CpG island
ENSG00000175054	Chromatin interaction
ENSG00000163714	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877562	chr3:142573789-142846370	Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	esv2757893	chr3:142720230-142962932	Enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	esv2759183	chr3:142720230-142964373	Strong transcription Weak transcription Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv591921	chr3:142762487-142841740	Bivalent/Poised TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv949288	chr3:142793323-143585882	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv1007164	chr3:142837004-142891719	Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142836600-142839200	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr3:142837000-142838000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr3:142837000-142838200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
4	chr3:142837000-142840400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
5	chr3:142837200-142838000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
6	chr3:142837200-142838400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
7	chr3:142837200-142840600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
8	chr3:142837400-142838000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
9	chr3:142837400-142838000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
10	chr3:142837400-142838000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:142837400-142838000	Bivalent Enhancer	Fetal Brain Male	brain
12	chr3:142837400-142838000	Flanking Active TSS	GM12878-XiMat	blood
13	chr3:142837400-142838000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
14	chr3:142837400-142838200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:142837400-142838200	Flanking Active TSS	Dnd41	blood
16	chr3:142837400-142838800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:142837400-142839000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr3:142837400-142839400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:142837400-142839800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
20	chr3:142837400-142840200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:142837400-142840400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:142837400-142840400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr3:142837400-142840600	Active TSS	H9 Cell Line	embryonic stem cell
24	chr3:142837600-142838000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
25	chr3:142837600-142838000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr3:142837600-142838000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
27	chr3:142837600-142838000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr3:142837600-142838200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
29	chr3:142837600-142838200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
30	chr3:142837600-142838200	Bivalent/Poised TSS	Thymus	Thymus
31	chr3:142837600-142838400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:142837600-142838400	Flanking Active TSS	Primary B cells from cord blood	blood
33	chr3:142837600-142838400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
34	chr3:142837600-142838400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr3:142837600-142838400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
36	chr3:142837600-142838400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
37	chr3:142837600-142838400	Flanking Active TSS	Adipose Nuclei	Adipose
38	chr3:142837600-142838400	Flanking Active TSS	Fetal Thymus	thymus
39	chr3:142837600-142838600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
40	chr3:142837600-142838600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
41	chr3:142837600-142839000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
42	chr3:142837600-142839400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:142837600-142839600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:142837600-142839800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr3:142837600-142840200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr3:142837600-142840200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:142837600-142840200	Active TSS	Right Atrium	heart
48	chr3:142837600-142840200	Active TSS	K562	blood
49	chr3:142837600-142840400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr3:142837600-142840400	Active TSS	Primary T killer memory cells from peripheral blood	blood

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