Variant report

Variant	rs527900103
Chromosome Location	chr3:142838038-142838039
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:187)
CpG islands
(count:122)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:187 , 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	CREB1	chr3:142837717-142839100	GM12878	blood:	n/a	n/a
7	ZNF263	chr3:142837735-142839609	HEK293-T-REx	kidney:	n/a	chr3:142839428-142839437
8	MAX	chr3:142837797-142838844	A549	lung:	n/a	n/a
9	EGR1	chr3:142837816-142838236	K562	blood:	n/a	n/a
10	POLR2A	chr3:142837773-142841232	GM19193	blood:	n/a	n/a
11	PAX5	chr3:142837734-142838093	GM12878	blood:	n/a	chr3:142837982-142838000
12	POLR2A	chr3:142837235-142842973	GM12878	blood:	n/a	n/a
13	MAX	chr3:142837718-142838730	K562	blood:	n/a	n/a
14	FOXM1	chr3:142837661-142838342	GM12878	blood:	n/a	n/a
15	POLR2A	chr3:142837418-142838863	Raji	blood:	n/a	n/a
16	ETS1	chr3:142837766-142838257	K562	blood:	n/a	n/a
17	POLR2A	chr3:142837371-142841744	GM12892	blood:	n/a	n/a
18	STAT5A	chr3:142837660-142838391	K562	blood:	n/a	n/a
19	POLR2A	chr3:142837327-142842927	GM12891	blood:	n/a	n/a
20	RAD21	chr3:142838023-142838526	ECC-1	luminal epithelium:	n/a	chr3:142838103-142838110 chr3:142838167-142838177
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	CTCF	chr3:142838020-142838310	BJ	skin:	n/a	n/a
35	POLR2A	chr3:142837397-142840013	GM12892	blood:	n/a	n/a
36	E2F6	chr3:142837786-142838243	K562	blood:	n/a	n/a
37	POLR2A	chr3:142837372-142842950	GM12891	blood:	n/a	n/a
38	MAX	chr3:142837717-142838729	ECC-1	luminal epithelium:	n/a	n/a
39	TCF12	chr3:142837838-142838440	ECC-1	luminal epithelium:	n/a	n/a
40	TBP	chr3:142837958-142838053	GM12878	blood:	n/a	n/a
41	ZBTB7A	chr3:142837837-142839574	ECC-1	luminal epithelium:	n/a	n/a
42	POLR2A	chr3:142837824-142840822	GM12878	blood:	n/a	n/a
43	YY1	chr3:142838000-142838484	GM12878	blood:	n/a	chr3:142838082-142838096 chr3:142838292-142838301
44	ZBTB7A	chr3:142837710-142838501	K562	blood:	n/a	n/a
45	TAF1	chr3:142837718-142838313	K562	blood:	n/a	n/a
46	EGR1	chr3:142837770-142838695	K562	blood:	n/a	n/a
47	TBP	chr3:142837414-142838827	K562	blood:	n/a	n/a
48	EBF1	chr3:142838037-142838348	GM12878	blood:	n/a	n/a
49	CHD2	chr3:142837571-142838746	H1-hESC	embryonic stem cell:	n/a	n/a
50	ZMIZ1	chr3:142837692-142838344	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:142838003-142838053	SK-N-MC	brain:	n/a
2	chr3:142838003-142838053	PANC-1	pancreas:	n/a
3	chr3:142837995-142838045	ProgFib	skin:	n/a
4	chr3:142837995-142838045	A549	lung:	n/a
5	chr3:142838003-142838053	NH-A	brain:	n/a
6	chr3:142837995-142838045	U87	brain:	n/a
7	chr3:142837995-142838045	AG04449	skin:	fetal
8	chr3:142838003-142838053	SK-N-SH	brain:	n/a
9	chr3:142837995-142838045	Hela-S3	cervix:	n/a
10	chr3:142837995-142838045	BJ	skin:	n/a
11	chr3:142837995-142838045	HepG2	liver:	n/a
12	chr3:142837995-142838045	HL-60	blood:	n/a
13	chr3:142838003-142838053	NB4	blood:	n/a
14	chr3:142838003-142838053	A549	lung:	n/a
15	chr3:142838003-142838053	ovcar-3	ovarian:	n/a
16	chr3:142838003-142838053	HCF	heart:	n/a
17	chr3:142838003-142838053	HCT-116	colon:	n/a
18	chr3:142837995-142838045	NHDF-neo	bronchial:	n/a
19	chr3:142837995-142838045	IMR90	lung:	fetal
20	chr3:142838003-142838053	BJ	skin:	n/a
21	chr3:142838003-142838053	SK-N-SH_RA	brain:	n/a
22	chr3:142837995-142838045	NH-A	brain:	n/a
23	chr3:142837995-142838045	HCF	heart:	n/a
24	chr3:142837995-142838045	NHBE	bronchial:	n/a
25	chr3:142837995-142838045	MCF10A-Er-Src	breast:	n/a
26	chr3:142838003-142838053	HCM	heart:	n/a
27	chr3:142838003-142838053	RPTEC	kidney:	n/a
28	chr3:142838003-142838053	HRE	kidney:	n/a
29	chr3:142837995-142838045	HCPEpiC	choroid plexus:	n/a
30	chr3:142838003-142838053	HNPCEpiC	eye:	n/a
31	chr3:142837995-142838045	HEEpiC	esophagus:	n/a
32	chr3:142838003-142838053	T-47D	breast:	n/a
33	chr3:142837995-142838045	GM12892	blood:	n/a
34	chr3:142837995-142838045	SKMC	muscle:	n/a
35	chr3:142838003-142838053	GM06990	blood:	n/a
36	chr3:142838003-142838053	CMK	blood:	n/a
37	chr3:142838003-142838053	BE2_C	brain:	n/a
38	chr3:142838003-142838053	AoSMC	blood vessel:	n/a
39	chr3:142837995-142838045	SK-N-MC	brain:	n/a
40	chr3:142838003-142838053	Hepatocyte	liver:	n/a
41	chr3:142837995-142838045	HPAEpiC	pulmonary alveolar:	n/a
42	chr3:142838003-142838053	IMR90	lung:	fetal
43	chr3:142838003-142838053	AG04449	skin:	fetal
44	chr3:142838003-142838053	H1-hESC	embryonic stem cell:	embryo
45	chr3:142837995-142838045	ECC-1	luminal epithelium:	n/a
46	chr3:142838003-142838053	AG04450	lung:	fetal
47	chr3:142837995-142838045	HCT-116	colon:	n/a
48	chr3:142838003-142838053	HAEpiC	amniotic membrane:	n/a
49	chr3:142838003-142838053	HL-60	blood:	n/a
50	chr3:142837995-142838045	HCM	heart:	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
ENSG00000241679	CpG island
CHST2	CpG island
ENSG00000163714	Chromatin interaction
ENSG00000175054	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:125 , 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	chr3:142837000-142838200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr3:142837000-142840400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
4	chr3:142837200-142838400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr3:142837200-142840600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
6	chr3:142837400-142838200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr3:142837400-142838200	Flanking Active TSS	Dnd41	blood
8	chr3:142837400-142838800	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr3:142837400-142839000	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
10	chr3:142837400-142839400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
11	chr3:142837400-142839800	Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr3:142837400-142840200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr3:142837400-142840400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr3:142837400-142840400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr3:142837400-142840600	Active TSS	H9 Cell Line	embryonic stem cell
16	chr3:142837600-142838200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
17	chr3:142837600-142838200	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
18	chr3:142837600-142838200	Bivalent/Poised TSS	Thymus	Thymus
19	chr3:142837600-142838400	Bivalent/Poised TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr3:142837600-142838400	Flanking Active TSS	Primary B cells from cord blood	blood
21	chr3:142837600-142838400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
22	chr3:142837600-142838400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr3:142837600-142838400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
24	chr3:142837600-142838400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr3:142837600-142838400	Flanking Active TSS	Adipose Nuclei	Adipose
26	chr3:142837600-142838400	Flanking Active TSS	Fetal Thymus	thymus
27	chr3:142837600-142838600	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
28	chr3:142837600-142838600	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
29	chr3:142837600-142839000	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
30	chr3:142837600-142839400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr3:142837600-142839600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr3:142837600-142839800	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:142837600-142840200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr3:142837600-142840200	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:142837600-142840200	Active TSS	Right Atrium	heart
36	chr3:142837600-142840200	Active TSS	K562	blood
37	chr3:142837600-142840400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr3:142837600-142840400	Active TSS	Primary T killer memory cells from peripheral blood	blood
39	chr3:142837600-142840400	Active TSS	Brain Hippocampus Middle	brain
40	chr3:142837600-142840400	Active TSS	Brain Substantia Nigra	brain
41	chr3:142837600-142840400	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr3:142837600-142840400	Active TSS	HSMMtube	muscle
43	chr3:142837600-142840400	Active TSS	NHDF-Ad	bronchial
44	chr3:142837600-142840600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr3:142837600-142840600	Active TSS	Primary T cells from cord blood	blood
46	chr3:142837600-142840600	Active TSS	Brain Inferior Temporal Lobe	brain
47	chr3:142837600-142840600	Active TSS	NHLF	lung
48	chr3:142837600-142840600	Active TSS	Osteobl	bone
49	chr3:142837600-142840800	Active TSS	Brain Anterior Caudate	brain
50	chr3:142837600-142840800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain

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