Variant report

Variant	rs539463453
Chromosome Location	chr3:195865534-195865535
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr3:195865289-195866334	Hela-S3	cervix:	n/a	n/a
2	GTF3C2	chr3:195865391-195865934	Hela-S3	cervix:	n/a	n/a
3	EP300	chr3:195865372-195865692	K562	blood:	n/a	n/a
4	CCNT2	chr3:195865317-195865744	K562	blood:	n/a	n/a
5	MYC	chr3:195865479-195865572	Hela-S3	cervix:	n/a	n/a
6	MAX	chr3:195865387-195866213	Hela-S3	cervix:	n/a	n/a
7	GATA3	chr3:195865241-195866463	T-47D	breast:	n/a	n/a
8	ESR1	chr3:195865389-195866285	T-47D	breast:	n/a	n/a
9	EP300	chr3:195865319-195866198	Hela-S3	cervix:	n/a	n/a
10	STAT3	chr3:195865306-195865615	MCF10A-Er-Src	breast:	n/a	n/a
11	MYC	chr3:195865476-195866151	MCF10A-Er-Src	breast:	n/a	n/a
12	JUND	chr3:195865383-195866271	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr3:195865284-195865603	Hela-S3	cervix:	n/a	n/a
14	GATA3	chr3:195865383-195866276	T-47D	breast:	n/a	n/a
15	CEBPB	chr3:195865286-195866227	Hela-S3	cervix:	n/a	n/a
16	IRF1	chr3:195865274-195865613	K562	blood:	n/a	n/a
17	MYC	chr3:195865434-195865838	K562	blood:	n/a	n/a
18	SMC3	chr3:195865303-195866224	Hela-S3	cervix:	n/a	n/a
19	GATA1	chr3:195865160-195866079	PBDE	blood:	n/a	n/a
20	ESR1	chr3:195865347-195866232	T-47D	breast:	n/a	n/a
21	MYC	chr3:195865281-195866191	Hela-S3	cervix:	n/a	n/a
22	CEBPB	chr3:195865359-195865663	K562	blood:	n/a	n/a
23	TBP	chr3:195865298-195866184	Hela-S3	cervix:	n/a	n/a
24	TEAD4	chr3:195865310-195865727	K562	blood:	n/a	n/a
25	RCOR1	chr3:195865463-195866051	K562	blood:	n/a	n/a
26	RAD21	chr3:195865363-195866227	Hela-S3	cervix:	n/a	n/a
27	TCF7L2	chr3:195865323-195866430	Hela-S3	cervix:	n/a	n/a
28	RFX5	chr3:195865343-195866253	Hela-S3	cervix:	n/a	n/a
29	ESR1	chr3:195865320-195866322	T-47D	breast:	n/a	n/a
30	ESR1	chr3:195865478-195866242	T-47D	breast:	n/a	n/a
31	ESR1	chr3:195865323-195866233	T-47D	breast:	n/a	n/a
32	TEAD4	chr3:195865314-195866201	K562	blood:	n/a	n/a
33	GTF2F1	chr3:195865297-195866170	Hela-S3	cervix:	n/a	n/a
34	JUND	chr3:195865441-195866044	K562	blood:	n/a	n/a
35	CHD2	chr3:195865345-195866168	Hela-S3	cervix:	n/a	n/a
36	IRF1	chr3:195865350-195865964	K562	blood:	n/a	n/a
37	MAX	chr3:195865299-195866344	Hela-S3	cervix:	n/a	n/a
38	TAL1	chr3:195865333-195865658	K562	blood:	n/a	n/a
39	STAT3	chr3:195865313-195866163	Hela-S3	cervix:	n/a	n/a
40	CEBPB	chr3:195865385-195866151	IMR90	lung:	n/a	n/a
41	BRCA1	chr3:195865353-195866260	Hela-S3	cervix:	n/a	n/a
42	MXI1	chr3:195865279-195866297	Hela-S3	cervix:	n/a	n/a
43	USF2	chr3:195865403-195866169	Hela-S3	cervix:	n/a	n/a
44	EP300	chr3:195865245-195866371	T-47D	breast:	n/a	n/a
45	RCOR1	chr3:195865293-195866298	Hela-S3	cervix:	n/a	n/a
46	TFAP2C	chr3:195865406-195866245	Hela-S3	cervix:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195860111..195866304-chr3:195867406..195871772,10	MCF-7	breast:
2	chr3:195804323..195810515-chr3:195865435..195874009,30	K562	blood:
3	chr3:195800817..195802766-chr3:195864613..195867198,2	MCF-7	breast:
4	chr3:195806658..195811369-chr3:195865432..195872361,14	MCF-7	breast:
5	chr3:195853800..195856290-chr3:195863530..195866290,3	K562	blood:
6	chr3:195806535..195810385-chr3:195863612..195875110,36	K562	blood:

No data

Variant related genes	Relation type
LINC00885	TF binding region
ENSG00000072274	Chromatin interaction
ENSG00000224652	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2759213	chr3:195102787-196071593	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
2	esv2757913	chr3:195379484-196071593	Weak transcription Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
3	nsv532213	chr3:195643944-196063636	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
4	nsv997797	chr3:195658360-196212958	Weak transcription Flanking Active TSS Genic enhancers Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv878170	chr3:195677895-195871388	Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv878171	chr3:195677895-195959924	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
7	nsv1008512	chr3:195709662-195974936	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
8	nsv1002584	chr3:195734933-195910772	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
9	nsv432543	chr3:195746690-196015690	Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
10	nsv532214	chr3:195762648-195916068	Weak transcription Strong transcription Active TSS Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
11	nsv1002065	chr3:195769609-195877692	Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
12	nsv1009105	chr3:195769609-195984388	Weak transcription Enhancers Flanking Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
13	nsv461130	chr3:195776240-195907653	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
14	nsv593069	chr3:195776240-195907653	Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
15	nsv1005558	chr3:195789462-195919077	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
16	nsv536890	chr3:195789462-195919077	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
17	nsv998042	chr3:195840858-195934070	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
18	nsv878173	chr3:195848264-195889626	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
19	nsv1009811	chr3:195851796-196138071	Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
20	nsv593070	chr3:195854279-195924203	Enhancers Genic enhancers Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
21	nsv878174	chr3:195858887-195949541	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
22	nsv461131	chr3:195858887-196072442	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
23	nsv593071	chr3:195858887-196072442	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
24	nsv1004194	chr3:195864466-195919077	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
25	nsv536891	chr3:195864466-195919077	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
26	nsv1009178	chr3:195864466-196081670	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases
27	nsv536892	chr3:195864466-196081670	Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:42 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:195860400-195869000	Enhancers	Placenta	Placenta
2	chr3:195861600-195867200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr3:195861800-195865800	Weak transcription	Fetal Lung	lung
4	chr3:195862000-195868800	Weak transcription	Fetal Muscle Leg	muscle
5	chr3:195863000-195868000	Weak transcription	Spleen	Spleen
6	chr3:195863000-195868600	Weak transcription	Esophagus	oesophagus
7	chr3:195863000-195869200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr3:195863200-195869000	Weak transcription	Gastric	stomach
9	chr3:195863200-195869600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr3:195863400-195866200	Weak transcription	Fetal Thymus	thymus
11	chr3:195863400-195869000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr3:195863400-195869000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr3:195863400-195869200	Weak transcription	Skeletal Muscle Male	skeletal muscle
14	chr3:195863600-195867200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr3:195863600-195869200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr3:195863800-195866200	Enhancers	NHEK	skin
17	chr3:195864000-195869600	Weak transcription	Ovary	ovary
18	chr3:195864400-195865600	Enhancers	K562	blood
19	chr3:195864600-195866400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:195864600-195867000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr3:195864800-195866800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr3:195865000-195866600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr3:195865200-195866400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:195865200-195866400	Enhancers	Liver	Liver
25	chr3:195865200-195866400	Enhancers	HMEC	breast
26	chr3:195865200-195866600	Flanking Active TSS	Hela-S3	cervix
27	chr3:195865400-195865800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr3:195865400-195865800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr3:195865400-195866000	Enhancers	H9 Cell Line	embryonic stem cell
30	chr3:195865400-195866000	Enhancers	HUES48 Cell Line	embryonic stem cell
31	chr3:195865400-195866000	Enhancers	iPS-15b Cell Line	embryonic stem cell
32	chr3:195865400-195866000	Enhancers	iPS-18 Cell Line	embryonic stem cell
33	chr3:195865400-195866000	Enhancers	Pancreas	Pancrea
34	chr3:195865400-195866000	Enhancers	HSMMtube	muscle
35	chr3:195865400-195866200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr3:195865400-195866200	Enhancers	iPS-20b Cell Line	embryonic stem cell
37	chr3:195865400-195866200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr3:195865400-195866400	Enhancers	H1 Cell Line	embryonic stem cell
39	chr3:195865400-195866400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr3:195865400-195866400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr3:195865400-195866600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
42	chr3:195865400-195866600	Enhancers	Placenta Amnion	Placenta Amnion

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