Variant report

Variant	rs144402722
Chromosome Location	chr3:137833143-137833144
allele	A/C
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	TCF12	chr3:137833086-137834872	A549	lung:	n/a	chr3:137834135-137834143
2	POLR2A	chr3:137832958-137835110	IMR90	lung:	n/a	n/a
3	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
4	MXI1	chr3:137833082-137834832	IMR90	lung:	n/a	n/a
5	CTCF	chr3:137833090-137834862	SK-N-SH	brain:	n/a	chr3:137833678-137833691
6	ZNF263	chr3:137833027-137834734	HEK293-T-REx	kidney:	n/a	chr3:137833362-137833371
7	MAZ	chr3:137833012-137834849	IMR90	lung:	n/a	chr3:137834232-137834241
8	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:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137781000-137833200	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:137801600-137833200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:137803200-137833200	Weak transcription	Placenta	Placenta
4	chr3:137811800-137833400	Weak transcription	Fetal Brain Male	brain
5	chr3:137812600-137833200	Weak transcription	Brain Angular Gyrus	brain
6	chr3:137814000-137833600	Weak transcription	Liver	Liver
7	chr3:137814200-137833200	Weak transcription	HUVEC	blood vessel
8	chr3:137821000-137833200	Weak transcription	Fetal Intestine Small	intestine
9	chr3:137822400-137833200	Weak transcription	Brain Anterior Caudate	brain
10	chr3:137822600-137833200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr3:137822800-137833200	Weak transcription	Primary monocytes fromperipheralblood	blood
12	chr3:137822800-137833200	Weak transcription	Fetal Brain Female	brain
13	chr3:137823000-137833200	Weak transcription	Duodenum Smooth Muscle	Duodenum
14	chr3:137823000-137833200	Weak transcription	Lung	lung
15	chr3:137823000-137833400	Weak transcription	Gastric	stomach
16	chr3:137823200-137833200	Weak transcription	Pancreas	Pancrea
17	chr3:137823200-137833200	Weak transcription	Spleen	Spleen
18	chr3:137823600-137833200	Weak transcription	Right Ventricle	heart
19	chr3:137831200-137833400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr3:137831400-137833200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr3:137831600-137833200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr3:137832000-137833200	Enhancers	H1 Cell Line	embryonic stem cell
23	chr3:137832000-137833200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr3:137832000-137833200	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
25	chr3:137832000-137833200	Enhancers	Cortex derived primary cultured neurospheres	brain
26	chr3:137832000-137833200	Enhancers	Brain Germinal Matrix	brain
27	chr3:137832000-137833200	Enhancers	Brain Hippocampus Middle	brain
28	chr3:137832000-137833200	Enhancers	Colon Smooth Muscle	Colon
29	chr3:137832000-137833400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr3:137832000-137833800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr3:137832000-137833800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
32	chr3:137832200-137833200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr3:137832200-137833200	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
34	chr3:137832200-137833200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr3:137832200-137833200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr3:137832200-137833200	Enhancers	Colonic Mucosa	Colon
37	chr3:137832200-137833200	Enhancers	Left Ventricle	heart
38	chr3:137832200-137833200	Enhancers	Ovary	ovary
39	chr3:137832200-137833200	Enhancers	Rectal Smooth Muscle	rectum
40	chr3:137832200-137833200	Enhancers	Skeletal Muscle Male	skeletal muscle
41	chr3:137832200-137833400	Enhancers	Stomach Mucosa	stomach
42	chr3:137832200-137833800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr3:137832200-137833800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr3:137832200-137833800	Flanking Active TSS	Hela-S3	cervix
45	chr3:137832400-137833200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
46	chr3:137832400-137833200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
47	chr3:137832400-137833200	Enhancers	Fetal Muscle Trunk	muscle
48	chr3:137832400-137833200	Enhancers	Skeletal Muscle Female	skeletal muscle
49	chr3:137832400-137833200	Enhancers	NHEK	skin
50	chr3:137832400-137834000	Weak transcription	Small Intestine	intestine

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