Variant report

Variant	rs192502483
Chromosome Location	chr3:142837472-142837473
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:40)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:40 , 50 per page) page: 1

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	POLR2A	chr3:142837413-142839052	K562	blood:	n/a	n/a
3	POLR2A	chr3:142837303-142839328	K562	blood:	n/a	n/a
4	POLR2A	chr3:142837235-142842973	GM12878	blood:	n/a	n/a
5	POLR2A	chr3:142837418-142838863	Raji	blood:	n/a	n/a
6	POLR2A	chr3:142837371-142841744	GM12892	blood:	n/a	n/a
7	POLR2A	chr3:142837327-142842927	GM12891	blood:	n/a	n/a
8	POLR2A	chr3:142837450-142838856	K562	blood:	n/a	n/a
9	POLR2A	chr3:142836914-142843085	GM12891	blood:	n/a	n/a
10	POLR2A	chr3:142837397-142840013	GM12892	blood:	n/a	n/a
11	POLR2A	chr3:142837372-142842950	GM12891	blood:	n/a	n/a
12	TBP	chr3:142837414-142838827	K562	blood:	n/a	n/a
13	POLR2A	chr3:142837371-142840452	GM12892	blood:	n/a	n/a
14	POLR2A	chr3:142837405-142838836	K562	blood:	n/a	n/a
15	CUX1	chr3:142837407-142837933	K562	blood:	n/a	n/a
16	TRIM28	chr3:142837282-142838506	K562	blood:	n/a	n/a
17	MYC	chr3:142837380-142838738	K562	blood:	n/a	n/a
18	EP300	chr3:142837413-142838443	K562	blood:	n/a	n/a
19	MTA3	chr3:142837353-142839597	GM12878	blood:	n/a	n/a
20	UBTF	chr3:142837118-142840212	K562	blood:	n/a	n/a
21	POLR2A	chr3:142837346-142838912	K562	blood:	n/a	n/a
22	POLR2A	chr3:142837455-142842924	GM18505	blood:	n/a	n/a
23	MAX	chr3:142837367-142838863	K562	blood:	n/a	n/a
24	RCOR1	chr3:142837456-142838284	K562	blood:	n/a	n/a
25	POLR2A	chr3:142836989-142838822	K562	blood:	n/a	n/a
26	ELK1	chr3:142837357-142837491	K562	blood:	n/a	n/a
27	NR2F2	chr3:142837420-142838524	K562	blood:	n/a	n/a
28	TEAD4	chr3:142837418-142838503	K562	blood:	n/a	n/a
29	TBL1XR1	chr3:142837378-142838181	K562	blood:	n/a	n/a
30	YY1	chr3:142837444-142837703	K562	blood:	n/a	n/a
31	CTBP2	chr3:142837471-142838432	H1-hESC	embryonic stem cell:	n/a	n/a
32	RCOR1	chr3:142837385-142840409	K562	blood:	n/a	n/a
33	CBX3	chr3:142837365-142838486	K562	blood:	n/a	n/a
34	POLR2A	chr3:142837337-142840691	GM12878	blood:	n/a	n/a
35	TEAD4	chr3:142837364-142838542	K562	blood:	n/a	n/a
36	POLR2A	chr3:142837347-142837684	K562	blood:	n/a	n/a
37	E2F6	chr3:142837471-142840846	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 chr3:142839536-142839546 chr3:142838694-142838704 chr3:142839574-142839584 chr3:142839630-142839639 chr3:142838688-142838695 chr3:142838688-142838695 chr3:142839543-142839552 chr3:142838697-142838707 chr3:142838917-142838927 chr3:142838687-142838697 chr3:142838700-142838710
38	MTA3	chr3:142837472-142837940	GM12878	blood:	n/a	n/a
39	POLR2A	chr3:142837261-142839233	K562	blood:	n/a	n/a
40	NR2F2	chr3:142837242-142838643	K562	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:142837472-142837522	SK-N-MC	brain:	n/a
2	chr3:142837472-142837522	GM12891	blood:	n/a
3	chr3:142837472-142837522	AG04450	lung:	fetal
4	chr3:142837472-142837522	HNPCEpiC	eye:	n/a
5	chr3:142837472-142837522	AG04449	skin:	fetal
6	chr3:142837472-142837522	HCM	heart:	n/a
7	chr3:142837472-142837522	U87	brain:	n/a
8	chr3:142837472-142837522	HRPEpiC	eye:	n/a
9	chr3:142837472-142837522	CMK	blood:	n/a
10	chr3:142837472-142837522	MCF-7	breast:	n/a
11	chr3:142837472-142837522	BE2_C	brain:	n/a
12	chr3:142837472-142837522	GM19239	blood:	n/a
13	chr3:142837472-142837522	HCT-116	colon:	n/a
14	chr3:142837472-142837522	AG09319	gingival:	n/a
15	chr3:142837472-142837522	K562	blood:	n/a
16	chr3:142837472-142837522	HL-60	blood:	n/a
17	chr3:142837472-142837522	Hela-S3	cervix:	n/a
18	chr3:142837472-142837522	HPAEpiC	pulmonary alveolar:	n/a
19	chr3:142837472-142837522	AG09309	skin:	n/a
20	chr3:142837472-142837522	Caco-2	colon:	n/a
21	chr3:142837472-142837522	A549	lung:	n/a
22	chr3:142837472-142837522	HAEpiC	amniotic membrane:	n/a
23	chr3:142837472-142837522	NH-A	brain:	n/a
24	chr3:142837472-142837522	HEEpiC	esophagus:	n/a
25	chr3:142837472-142837522	IMR90	lung:	fetal
26	chr3:142837472-142837522	HIPEpiC	eye:	n/a
27	chr3:142837472-142837522	HRCEpiC	kidney:	n/a
28	chr3:142837472-142837522	SK-N-SH	brain:	n/a
29	chr3:142837472-142837522	T-47D	breast:	n/a
30	chr3:142837472-142837522	ProgFib	skin:	n/a
31	chr3:142837472-142837522	HCPEpiC	choroid plexus:	n/a
32	chr3:142837472-142837522	Jurkat	blood:	n/a
33	chr3:142837472-142837522	SK-N-SH_RA	brain:	n/a
34	chr3:142837472-142837522	BJ	skin:	n/a
35	chr3:142837472-142837522	HMEC	breast:	n/a
36	chr3:142837472-142837522	NT2-D1	testis:	n/a
37	chr3:142837472-142837522	MCF10A-Er-Src	breast:	n/a
38	chr3:142837472-142837522	H1-hESC	embryonic stem cell:	embryo
39	chr3:142837472-142837522	HRE	kidney:	n/a
40	chr3:142837472-142837522	PANC-1	pancreas:	n/a
41	chr3:142837472-142837522	RPTEC	kidney:	n/a
42	chr3:142837472-142837522	PrEC	prostate:	n/a
43	chr3:142837472-142837522	HEK293	kidney:	embryo
44	chr3:142837472-142837522	HepG2	liver:	n/a
45	chr3:142837472-142837522	PFSK-1	brain:	n/a
46	chr3:142837472-142837522	AG10803	skin:	n/a
47	chr3:142837472-142837522	ECC-1	luminal epithelium:	n/a
48	chr3:142837472-142837522	NB4	blood:	n/a
49	chr3:142837472-142837522	NHBE	bronchial:	n/a
50	chr3:142837472-142837522	GM06990	blood:	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
ENSG00000241679	TF binding region
CHST2	TF binding region
ENSG00000241679	CpG island
CHST2	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:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:142835200-142837600	Enhancers	Fetal Thymus	thymus
2	chr3:142835800-142837600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
3	chr3:142835800-142837600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr3:142836600-142839200	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr3:142836800-142837600	Flanking Active TSS	K562	blood
6	chr3:142837000-142837800	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr3:142837000-142838000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
8	chr3:142837000-142838200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
9	chr3:142837000-142840400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr3:142837200-142837600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr3:142837200-142837600	Enhancers	Primary T helper cells fromperipheralblood	blood
12	chr3:142837200-142837800	Flanking Bivalent TSS/Enh	Fetal Lung	lung
13	chr3:142837200-142838000	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
14	chr3:142837200-142838400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
15	chr3:142837200-142840600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
16	chr3:142837400-142837600	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
17	chr3:142837400-142837600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr3:142837400-142837600	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr3:142837400-142837600	Flanking Bivalent TSS/Enh	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:142837400-142837600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
21	chr3:142837400-142837600	Enhancers	Primary B cells from cord blood	blood
22	chr3:142837400-142837600	Enhancers	Primary T cells from cord blood	blood
23	chr3:142837400-142837600	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
24	chr3:142837400-142837600	Enhancers	Primary hematopoietic stem cells short term culture	blood
25	chr3:142837400-142837600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
26	chr3:142837400-142837600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
27	chr3:142837400-142837600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr3:142837400-142837600	Enhancers	Adipose Nuclei	Adipose
29	chr3:142837400-142837600	Enhancers	Duodenum Smooth Muscle	Duodenum
30	chr3:142837400-142837600	Bivalent/Poised TSS	Fetal Kidney	kidney
31	chr3:142837400-142837600	Bivalent Enhancer	Fetal Muscle Leg	muscle
32	chr3:142837400-142837600	Flanking Bivalent TSS/Enh	Thymus	Thymus
33	chr3:142837400-142837800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:142837400-142837800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:142837400-142837800	Enhancers	Primary B cells from peripheral blood	blood
36	chr3:142837400-142837800	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr3:142837400-142837800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:142837400-142837800	Bivalent Enhancer	Fetal Heart	heart
39	chr3:142837400-142837800	Bivalent Enhancer	Fetal Intestine Small	intestine
40	chr3:142837400-142837800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr3:142837400-142837800	Enhancers	Lung	lung
42	chr3:142837400-142837800	Bivalent Enhancer	NHEK	skin
43	chr3:142837400-142838000	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
44	chr3:142837400-142838000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
45	chr3:142837400-142838000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr3:142837400-142838000	Bivalent Enhancer	Fetal Brain Male	brain
47	chr3:142837400-142838000	Flanking Active TSS	GM12878-XiMat	blood
48	chr3:142837400-142838000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
49	chr3:142837400-142838200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:142837400-142838200	Flanking Active TSS	Dnd41	blood

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