Variant report

Variant	rs369880567
Chromosome Location	chr3:195973767-195973768
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:26)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:26 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:195973685-195974244	U87	brain:	n/a	n/a
2	STAT3	chr3:195973484-195974179	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr3:195973514-195974080	GM12878	blood:	n/a	n/a
4	PAX5	chr3:195973618-195973961	GM12878	blood:	n/a	n/a
5	STAT3	chr3:195973416-195974297	MCF10A-Er-Src	breast:	n/a	n/a
6	PAX5	chr3:195973636-195974007	GM12878	blood:	n/a	n/a
7	BCL11A	chr3:195973611-195974028	GM12878	blood:	n/a	n/a
8	POLR2A	chr3:195973456-195974400	HL-60	blood:	n/a	n/a
9	SPI1	chr3:195973608-195974007	GM12878	blood:	n/a	n/a
10	POLR2A	chr3:195973664-195974323	U87	brain:	n/a	n/a
11	EBF1	chr3:195973524-195974001	GM12878	blood:	n/a	chr3:195973626-195973637
12	PAX5	chr3:195973526-195974077	GM12878	blood:	n/a	n/a
13	FOS	chr3:195973685-195974201	MCF10A-Er-Src	breast:	n/a	n/a
14	TCF12	chr3:195973558-195973946	GM12878	blood:	n/a	n/a
15	EBF1	chr3:195973501-195973984	GM12878	blood:	n/a	chr3:195973626-195973637
16	SP1	chr3:195973678-195973971	GM12878	blood:	n/a	n/a
17	SIX5	chr3:195973658-195973996	K562	blood:	n/a	n/a
18	POLR2A	chr3:195973643-195973922	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr3:195973408-195974406	HL-60	blood:	n/a	n/a
20	EBF1	chr3:195973512-195973797	GM12878	blood:	n/a	chr3:195973626-195973637
21	FOS	chr3:195973724-195974263	MCF10A-Er-Src	breast:	n/a	n/a
22	IRF4	chr3:195973557-195974004	GM12878	blood:	n/a	n/a
23	POU2F2	chr3:195973565-195974083	GM12878	blood:	n/a	n/a
24	ZBTB33	chr3:195973682-195973959	K562	blood:	n/a	n/a
25	RXRA	chr3:195973605-195973960	GM12878	blood:	n/a	n/a
26	TCF12	chr3:195973560-195973964	GM12878	blood:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:195952863..195955052-chr3:195973498..195975966,2	K562	blood:
2	chr3:195971988..195973828-chr3:195999663..196002125,2	MCF-7	breast:
3	chr3:195958884..195960424-chr3:195972113..195974415,2	K562	blood:
4	chr3:195961871..195964800-chr3:195972048..195973919,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000228028	TF binding region
ENSG00000163959	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 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	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
6	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
7	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
8	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
9	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
10	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
11	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
12	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
13	nsv1003550	chr3:195885340-196159824	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
14	nsv536893	chr3:195885340-196159824	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	49 gene(s)	inside rSNPs	diseases
15	nsv878178	chr3:195929268-195998451	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
16	nsv878179	chr3:195929268-196019680	Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
17	nsv1014563	chr3:195934010-196085951	Genic enhancers ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
18	nsv878180	chr3:195946535-196066569	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
19	nsv878181	chr3:195946535-196072442	Enhancers Bivalent Enhancer Weak transcription Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
20	nsv1003194	chr3:195960270-196342423	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
21	nsv536894	chr3:195960270-196342423	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
22	esv3341217	chr3:195972755-195975953	Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Enhancers	TF binding region CpG island Chromatin interactive region	3 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	chr3:195959600-195978200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
2	chr3:195961600-195973800	Weak transcription	Stomach Mucosa	stomach
3	chr3:195962400-195977000	Strong transcription	Fetal Stomach	stomach
4	chr3:195962400-195979400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr3:195964000-195975000	Strong transcription	Fetal Brain Female	brain
6	chr3:195965200-195994200	Weak transcription	A549	lung
7	chr3:195965600-195975800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr3:195965800-195976600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr3:195965800-196012400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr3:195967000-195975200	Strong transcription	Aorta	Aorta
11	chr3:195967200-195988600	Strong transcription	Fetal Intestine Small	intestine
12	chr3:195967400-195975600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
13	chr3:195968400-195976400	Strong transcription	Spleen	Spleen
14	chr3:195968800-195993400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr3:195969200-195974000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:195969200-195978200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:195969400-195973800	Weak transcription	Brain Germinal Matrix	brain
18	chr3:195969400-195974000	Weak transcription	Primary B cells from cord blood	blood
19	chr3:195969600-195974000	Weak transcription	Hela-S3	cervix
20	chr3:195969600-195974200	Weak transcription	Psoas Muscle	Psoas
21	chr3:195969600-195974400	Weak transcription	Fetal Kidney	kidney
22	chr3:195969600-195982400	Weak transcription	Fetal Heart	heart
23	chr3:195969600-196012400	Weak transcription	Fetal Brain Male	brain
24	chr3:195969800-195974200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr3:195969800-195974200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
26	chr3:195970400-195973800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr3:195970800-195975200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr3:195971000-195975400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr3:195971000-195975400	Strong transcription	Lung	lung
30	chr3:195971200-195979600	Strong transcription	Fetal Muscle Leg	muscle
31	chr3:195971400-195973800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr3:195971600-195978400	Strong transcription	Duodenum Mucosa	Duodenum
33	chr3:195971800-195974600	Strong transcription	Placenta Amnion	Placenta Amnion
34	chr3:195971800-195975200	Strong transcription	Rectal Smooth Muscle	rectum
35	chr3:195971800-195976000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
36	chr3:195972000-195974600	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr3:195972000-195975200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr3:195972000-195975200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr3:195972000-195975200	Strong transcription	HSMMtube	muscle
40	chr3:195972000-195975400	Strong transcription	K562	blood
41	chr3:195972200-195974000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr3:195972200-195974200	Strong transcription	NH-A	brain
43	chr3:195972200-195974400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr3:195972200-195974600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr3:195972200-195974800	Strong transcription	Fetal Lung	lung
46	chr3:195972200-195975000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:195972200-195975000	Strong transcription	Fetal Thymus	thymus
48	chr3:195972200-195975000	Strong transcription	Stomach Smooth Muscle	stomach
49	chr3:195972200-195975000	Strong transcription	GM12878-XiMat	blood
50	chr3:195972200-195975200	Strong transcription	HUES64 Cell Line	embryonic stem cell

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