Variant report

Variant	rs533391968
Chromosome Location	chr3:137833229-137833230
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TAF1	chr3:137833186-137833422	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr3:137833086-137834872	A549	lung:	n/a	chr3:137834135-137834143
3	POLR2A	chr3:137832958-137835110	IMR90	lung:	n/a	n/a
4	POLR2A	chr3:137833220-137833482	Hela-S3	cervix:	n/a	n/a
5	HA-E2F1	chr3:137832959-137834741	MCF-7	breast:	n/a	chr3:137834566-137834578 chr3:137834017-137834029 chr3:137834149-137834156 chr3:137834149-137834156 chr3:137834017-137834028 chr3:137834149-137834156 chr3:137834148-137834160 chr3:137833979-137833993 chr3:137833976-137833990 chr3:137834192-137834204
6	SIN3AK20	chr3:137833205-137834739	SK-N-SH	brain:	n/a	n/a
7	KAP1	chr3:137833169-137834733	HEK293	kidney:	n/a	n/a
8	MXI1	chr3:137833082-137834832	IMR90	lung:	n/a	n/a
9	CTCF	chr3:137833090-137834862	SK-N-SH	brain:	n/a	chr3:137833678-137833691
10	ZNF263	chr3:137833027-137834734	HEK293-T-REx	kidney:	n/a	chr3:137833362-137833371
11	POLR2A	chr3:137833152-137834798	MCF10A-Er-Src	breast:	n/a	n/a
12	GATA2	chr3:137833192-137834146	SH-SY5Y	brain:	n/a	chr3:137833284-137833293 chr3:137833282-137833294 chr3:137833411-137833419
13	MAZ	chr3:137833012-137834849	IMR90	lung:	n/a	chr3:137834232-137834241
14	POLR2A	chr3:137833123-137833619	PFSK-1	brain:	n/a	n/a

Variant related genes	Relation type
DZIP1L	TF binding region

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	nsv530056	chr3:137312356-138161861	Weak transcription Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
2	esv2757890	chr3:137611789-137933835	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	esv2759180	chr3:137611789-137933835	Enhancers Active TSS Genic enhancers Weak transcription Flanking Active TSS Strong transcription 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	16 gene(s)	inside rSNPs	diseases
4	esv2751978	chr3:137715302-137890750	Weak transcription Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
5	nsv1007857	chr3:137767454-137843106	Weak transcription Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv10330	chr3:137832799-137834598	Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137811800-137833400	Weak transcription	Fetal Brain Male	brain
2	chr3:137814000-137833600	Weak transcription	Liver	Liver
3	chr3:137823000-137833400	Weak transcription	Gastric	stomach
4	chr3:137831200-137833400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr3:137832000-137833400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr3:137832000-137833800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:137832000-137833800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr3:137832200-137833400	Enhancers	Stomach Mucosa	stomach
9	chr3:137832200-137833800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:137832200-137833800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr3:137832200-137833800	Flanking Active TSS	Hela-S3	cervix
12	chr3:137832400-137834000	Weak transcription	Small Intestine	intestine
13	chr3:137832800-137833400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr3:137832800-137833400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr3:137832800-137833600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
16	chr3:137832800-137833800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
17	chr3:137833000-137833400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr3:137833000-137833400	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr3:137833000-137833400	Flanking Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:137833000-137833400	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
21	chr3:137833000-137833400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr3:137833000-137833400	Enhancers	Brain Substantia Nigra	brain
23	chr3:137833000-137833400	Enhancers	Esophagus	oesophagus
24	chr3:137833000-137833400	Flanking Active TSS	A549	lung
25	chr3:137833000-137833400	Active TSS	HSMMtube	muscle
26	chr3:137833000-137833400	Flanking Active TSS	NH-A	brain
27	chr3:137833000-137833600	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr3:137833000-137833600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr3:137833000-137833600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr3:137833000-137833600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr3:137833000-137833600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
32	chr3:137833000-137833600	Flanking Active TSS	Fetal Heart	heart
33	chr3:137833000-137833600	Flanking Active TSS	Fetal Lung	lung
34	chr3:137833000-137833600	Flanking Active TSS	NHDF-Ad	bronchial
35	chr3:137833000-137833600	Flanking Active TSS	NHLF	lung
36	chr3:137833000-137833800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr3:137833000-137833800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:137833000-137833800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr3:137833000-137833800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:137833000-137833800	Flanking Active TSS	Adipose Nuclei	Adipose
41	chr3:137833000-137833800	Flanking Active TSS	Fetal Muscle Leg	muscle
42	chr3:137833000-137833800	Flanking Active TSS	Fetal Stomach	stomach
43	chr3:137833000-137833800	Flanking Active TSS	HMEC	breast
44	chr3:137833000-137833800	Flanking Active TSS	Osteobl	bone
45	chr3:137833000-137834800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr3:137833000-137835200	Active TSS	Pancreatic Islets	Pancreatic Islet
47	chr3:137833200-137833400	Enhancers	Primary hematopoietic stem cells	blood
48	chr3:137833200-137833400	Enhancers	Primary hematopoietic stem cells short term culture	blood
49	chr3:137833200-137833400	Active TSS	Brain Angular Gyrus	brain
50	chr3:137833200-137833400	Enhancers	Brain Cingulate Gyrus	brain

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