Variant report

Variant	rs181569066
Chromosome Location	chr3:137833791-137833792
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	GATA3	chr3:137833767-137834868	A549	lung:	n/a	n/a
2	RCOR1	chr3:137833657-137834939	Hela-S3	cervix:	n/a	n/a
3	POLR2A	chr3:137833703-137834891	HCT-116	colon:	n/a	n/a
4	POLR2A	chr3:137833706-137834851	Hela-S3	cervix:	n/a	n/a
5	MXI1	chr3:137833789-137834813	Hela-S3	cervix:	n/a	n/a
6	HDAC2	chr3:137833781-137834798	MCF-7	breast:	n/a	n/a
7	MAX	chr3:137833782-137834377	K562	blood:	n/a	chr3:137834232-137834241
8	TCF12	chr3:137833086-137834872	A549	lung:	n/a	chr3:137834135-137834143
9	ZNF143	chr3:137833415-137834112	H1-hESC	embryonic stem cell:	n/a	n/a
10	MAX	chr3:137833461-137834847	A549	lung:	n/a	chr3:137834232-137834241
11	CTCF	chr3:137833711-137834571	IMR90	lung:	n/a	n/a
12	POLR2A	chr3:137833245-137835104	Hela-S3	cervix:	n/a	n/a
13	JUND	chr3:137833774-137834331	A549	lung:	n/a	chr3:137834114-137834123
14	BHLHE40	chr3:137833655-137834725	K562	blood:	n/a	chr3:137834021-137834037
15	CTCF	chr3:137833711-137834273	A549	lung:	n/a	n/a
16	POLR2A	chr3:137833354-137834594	HepG2	liver:	n/a	n/a
17	MYBL2	chr3:137833625-137834323	HepG2	liver:	n/a	n/a
18	POLR2A	chr3:137833446-137834797	HEK293	kidney:	n/a	n/a
19	CTCF	chr3:137833720-137833870	HFF-Myc	foreskin:	n/a	n/a
20	MAX	chr3:137833775-137834862	ECC-1	luminal epithelium:	n/a	chr3:137834232-137834241
21	POLR2A	chr3:137832958-137835110	IMR90	lung:	n/a	n/a
22	SIN3A	chr3:137833523-137834769	H1-hESC	embryonic stem cell:	n/a	chr3:137834401-137834415 chr3:137833987-137834000
23	SIN3AK20	chr3:137833774-137834687	PANC-1	pancreas:	n/a	n/a
24	SMC3	chr3:137833396-137834153	Hela-S3	cervix:	n/a	chr3:137833678-137833688 chr3:137833982-137833992
25	CTCF	chr3:137833773-137834190	GM12878	blood:	n/a	n/a
26	HA-E2F1	chr3:137833558-137834679	Hela-S3	cervix:	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
27	POLR2A	chr3:137833723-137834771	HepG2	liver:	n/a	n/a
28	STAT3	chr3:137833737-137834427	MCF10A-Er-Src	breast:	n/a	chr3:137834285-137834294 chr3:137834286-137834295 chr3:137834286-137834294 chr3:137834280-137834300
29	MAX	chr3:137833706-137834852	SK-N-SH	brain:	n/a	chr3:137834232-137834241
30	TCF7L2	chr3:137833699-137834752	Hela-S3	cervix:	n/a	n/a
31	CTCF	chr3:137833660-137833810	K562	blood:	n/a	chr3:137833678-137833691
32	CCNT2	chr3:137833713-137834448	K562	blood:	n/a	chr3:137834325-137834334
33	CHD2	chr3:137833569-137834031	H1-hESC	embryonic stem cell:	n/a	chr3:137834016-137834026
34	POLR2A	chr3:137833681-137834824	U87	brain:	n/a	n/a
35	RAD21	chr3:137833787-137834123	H1-hESC	embryonic stem cell:	n/a	n/a
36	CTCF	chr3:137833680-137833830	HCFaa	heart:	n/a	n/a
37	E2F1	chr3:137833789-137834665	Hela-S3	cervix:	n/a	chr3:137834566-137834578 chr3:137834017-137834029 chr3:137834149-137834156 chr3:137834149-137834156 chr3:137834144-137834159 chr3:137834017-137834028 chr3:137834149-137834156 chr3:137834148-137834160 chr3:137833979-137833993 chr3:137833976-137833990 chr3:137834192-137834204
38	MAX	chr3:137833704-137834709	SK-N-SH	brain:	n/a	chr3:137834232-137834241
39	RAD21	chr3:137833775-137834186	H1-hESC	embryonic stem cell:	n/a	n/a
40	POLR2A	chr3:137833294-137834857	H1-hESC	embryonic stem cell:	n/a	n/a
41	CTCF	chr3:137833660-137833810	HCT-116	colon:	n/a	chr3:137833678-137833691
42	SMARCB1	chr3:137833283-137834832	Hela-S3	cervix:	n/a	n/a
43	EGR1	chr3:137833788-137834414	ECC-1	luminal epithelium:	n/a	chr3:137834051-137834060 chr3:137834047-137834061 chr3:137834050-137834063 chr3:137834050-137834060 chr3:137834050-137834063 chr3:137833946-137833956
44	POLR2A	chr3:137833773-137834852	Hela-S3	cervix:	n/a	n/a
45	TAF1	chr3:137833762-137834762	H1-hESC	embryonic stem cell:	n/a	n/a
46	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
47	ZBTB7A	chr3:137833737-137834999	ECC-1	luminal epithelium:	n/a	n/a
48	MYC	chr3:137833776-137834737	K562	blood:	n/a	chr3:137834232-137834241
49	MAZ	chr3:137833283-137834834	Hela-S3	cervix:	n/a	chr3:137834232-137834241
50	MAX	chr3:137833337-137834860	HepG2	liver:	n/a	chr3:137834232-137834241

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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137832000-137833800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr3:137832000-137833800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr3:137832200-137833800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr3:137832200-137833800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:137832200-137833800	Flanking Active TSS	Hela-S3	cervix
6	chr3:137832400-137834000	Weak transcription	Small Intestine	intestine
7	chr3:137832800-137833800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
8	chr3:137833000-137833800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr3:137833000-137833800	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr3:137833000-137833800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr3:137833000-137833800	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr3:137833000-137833800	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr3:137833000-137833800	Flanking Active TSS	Fetal Muscle Leg	muscle
14	chr3:137833000-137833800	Flanking Active TSS	Fetal Stomach	stomach
15	chr3:137833000-137833800	Flanking Active TSS	HMEC	breast
16	chr3:137833000-137833800	Flanking Active TSS	Osteobl	bone
17	chr3:137833000-137834800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr3:137833000-137835200	Active TSS	Pancreatic Islets	Pancreatic Islet
19	chr3:137833200-137833800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
20	chr3:137833200-137833800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
21	chr3:137833200-137833800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr3:137833200-137833800	Flanking Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
23	chr3:137833200-137833800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
24	chr3:137833200-137833800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr3:137833200-137833800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr3:137833200-137833800	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
27	chr3:137833200-137833800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr3:137833200-137833800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr3:137833200-137833800	Flanking Active TSS	Brain Germinal Matrix	brain
30	chr3:137833200-137833800	Flanking Active TSS	Brain Hippocampus Middle	brain
31	chr3:137833200-137833800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
32	chr3:137833200-137833800	Flanking Active TSS	Colon Smooth Muscle	Colon
33	chr3:137833200-137833800	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
34	chr3:137833200-137833800	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
35	chr3:137833200-137833800	Flanking Active TSS	Fetal Muscle Trunk	muscle
36	chr3:137833200-137833800	Flanking Active TSS	Left Ventricle	heart
37	chr3:137833200-137833800	Flanking Active TSS	Rectal Smooth Muscle	rectum
38	chr3:137833200-137833800	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
39	chr3:137833200-137833800	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr3:137833200-137833800	Flanking Active TSS	Stomach Smooth Muscle	stomach
41	chr3:137833200-137833800	Flanking Active TSS	HUVEC	blood vessel
42	chr3:137833200-137833800	Flanking Active TSS	NHEK	skin
43	chr3:137833200-137834000	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr3:137833200-137834000	Enhancers	Placenta	Placenta
45	chr3:137833200-137834000	Enhancers	Spleen	Spleen
46	chr3:137833200-137834400	Active TSS	Duodenum Mucosa	Duodenum
47	chr3:137833200-137834400	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr3:137833200-137834800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
49	chr3:137833200-137834800	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr3:137833200-137834800	Active TSS	HSMM	muscle

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