Variant report

Variant	rs544193230
Chromosome Location	chr3:137834038-137834039
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	MAX	chr3:137833810-137834786	H1-hESC	embryonic stem cell:	n/a	chr3:137834232-137834241
3	MYC	chr3:137833946-137834066	MCF-7	breast:	n/a	n/a
4	CTCF	chr3:137833846-137834103	H1-hESC	embryonic stem cell:	n/a	n/a
5	HCFC1	chr3:137833806-137834653	K562	blood:	n/a	n/a
6	RCOR1	chr3:137833657-137834939	Hela-S3	cervix:	n/a	n/a
7	RAD21	chr3:137833835-137834087	HepG2	liver:	n/a	n/a
8	CTCF	chr3:137833869-137834078	GM13976	blood:	n/a	n/a
9	CTCF	chr3:137833900-137834050	SAEC	small airway:	n/a	n/a
10	POLR2A	chr3:137833703-137834891	HCT-116	colon:	n/a	n/a
11	TAF1	chr3:137833842-137834156	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr3:137833706-137834851	Hela-S3	cervix:	n/a	n/a
13	CTCF	chr3:137833900-137834050	K562	blood:	n/a	n/a
14	MXI1	chr3:137833789-137834813	Hela-S3	cervix:	n/a	n/a
15	NFIC	chr3:137833970-137834212	HepG2	liver:	n/a	chr3:137834091-137834107
16	CTCF	chr3:137833940-137834090	BJ	skin:	n/a	n/a
17	HDAC2	chr3:137833781-137834798	MCF-7	breast:	n/a	n/a
18	CTCF	chr3:137833920-137834070	GM12867	blood:	n/a	n/a
19	CTCF	chr3:137833900-137834050	HFF	foreskin:	n/a	n/a
20	CTCF	chr3:137833920-137834070	GM12871	blood:	n/a	n/a
21	MAX	chr3:137833782-137834377	K562	blood:	n/a	chr3:137834232-137834241
22	CTCF	chr3:137833920-137834070	MCF-7	breast:	n/a	n/a
23	POLR2A	chr3:137833989-137834865	U87	brain:	n/a	n/a
24	CTCF	chr3:137833900-137834050	NB4	blood:	n/a	n/a
25	TCF12	chr3:137833086-137834872	A549	lung:	n/a	chr3:137834135-137834143
26	ZNF143	chr3:137833415-137834112	H1-hESC	embryonic stem cell:	n/a	n/a
27	CTCF	chr3:137833830-137834065	SK-N-SH_RA	brain:	n/a	n/a
28	TEAD4	chr3:137833815-137834759	ECC-1	luminal epithelium:	n/a	n/a
29	CTCF	chr3:137833940-137834090	GM12867	blood:	n/a	n/a
30	MAX	chr3:137833461-137834847	A549	lung:	n/a	chr3:137834232-137834241
31	MAX	chr3:137833805-137834864	ECC-1	luminal epithelium:	n/a	chr3:137834232-137834241
32	CTCF	chr3:137833853-137834109	GM19240	blood:	n/a	n/a
33	CTCF	chr3:137833940-137834090	K562	blood:	n/a	n/a
34	CTCF	chr3:137833711-137834571	IMR90	lung:	n/a	n/a
35	UBTF	chr3:137833796-137834557	K562	blood:	n/a	n/a
36	POLR2A	chr3:137833245-137835104	Hela-S3	cervix:	n/a	n/a
37	JUND	chr3:137833774-137834331	A549	lung:	n/a	chr3:137834114-137834123
38	CTCF	chr3:137833960-137834110	Hela-S3	cervix:	n/a	n/a
39	BHLHE40	chr3:137833655-137834725	K562	blood:	n/a	chr3:137834021-137834037
40	CTCF	chr3:137833711-137834273	A549	lung:	n/a	n/a
41	CTCF	chr3:137833817-137834203	K562	blood:	n/a	n/a
42	POLR2A	chr3:137833960-137834792	PFSK-1	brain:	n/a	n/a
43	MYC	chr3:137833905-137834112	HepG2	liver:	n/a	n/a
44	CTCF	chr3:137833900-137834050	AG09309	skin:	n/a	n/a
45	JUND	chr3:137833798-137834163	K562	blood:	n/a	chr3:137834114-137834123
46	MAX	chr3:137833837-137834141	K562	blood:	n/a	n/a
47	CTCF	chr3:137833848-137834135	GM19239	blood:	n/a	n/a
48	CTCF	chr3:137834000-137834150	HRE	kidney:	n/a	n/a
49	TBL1XR1	chr3:137833971-137834039	K562	blood:	n/a	n/a
50	MAFK	chr3:137834025-137834682	Hela-S3	cervix:	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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:137833000-137834800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr3:137833000-137835200	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr3:137833200-137834400	Active TSS	Duodenum Mucosa	Duodenum
4	chr3:137833200-137834400	Active TSS	Rectal Mucosa Donor 29	rectum
5	chr3:137833200-137834800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr3:137833200-137834800	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr3:137833200-137834800	Active TSS	HSMM	muscle
8	chr3:137833200-137835000	Active TSS	H9 Cell Line	embryonic stem cell
9	chr3:137833200-137835000	Active TSS	Aorta	Aorta
10	chr3:137833200-137835200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr3:137833400-137834400	Active TSS	Rectal Mucosa Donor 31	rectum
12	chr3:137833400-137834600	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr3:137833400-137834600	Active TSS	Colonic Mucosa	Colon
14	chr3:137833400-137834600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
15	chr3:137833400-137834600	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr3:137833400-137834800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
17	chr3:137833400-137834800	Flanking Active TSS	Primary hematopoietic stem cells	blood
18	chr3:137833400-137834800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr3:137833400-137834800	Active TSS	Esophagus	oesophagus
20	chr3:137833400-137835000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:137833400-137835000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr3:137833400-137835000	Active TSS	iPS-15b Cell Line	embryonic stem cell
23	chr3:137833400-137835000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr3:137833400-137835200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr3:137833400-137835200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
26	chr3:137833400-137835200	Active TSS	Fetal Kidney	kidney
27	chr3:137833400-137835400	Active TSS	ES-I3 Cell Line	embryonic stem cell
28	chr3:137833400-137835400	Active TSS	A549	lung
29	chr3:137833600-137834200	Bivalent/Poised TSS	Primary B cells from cord blood	blood
30	chr3:137833600-137834200	Bivalent/Poised TSS	GM12878-XiMat	blood
31	chr3:137833600-137834600	Active TSS	HUES64 Cell Line	embryonic stem cell
32	chr3:137833600-137834600	Active TSS	Placenta Amnion	Placenta Amnion
33	chr3:137833600-137834800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:137833600-137834800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:137833600-137834800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr3:137833600-137834800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
37	chr3:137833600-137834800	Flanking Active TSS	Liver	Liver
38	chr3:137833600-137834800	Active TSS	Brain Anterior Caudate	brain
39	chr3:137833600-137834800	Active TSS	Gastric	stomach
40	chr3:137833600-137834800	Bivalent/Poised TSS	HepG2	liver
41	chr3:137833600-137835000	Active TSS	iPS-18 Cell Line	embryonic stem cell
42	chr3:137833600-137835000	Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr3:137833600-137835000	Active TSS	Breast Myoepithelial Primary Cells	Breast
44	chr3:137833600-137835000	Active TSS	Muscle Satellite Cultured Cells	--
45	chr3:137833600-137835000	Active TSS	Ovary	ovary
46	chr3:137833600-137835000	Active TSS	Right Atrium	heart
47	chr3:137833600-137835000	Active TSS	Right Ventricle	heart
48	chr3:137833600-137835000	Active TSS	NHDF-Ad	bronchial
49	chr3:137833600-137835000	Active TSS	NHLF	lung
50	chr3:137833600-137835200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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