Variant report

Variant	rs571214107
Chromosome Location	chr3:137834434-137834435
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	HCFC1	chr3:137833806-137834653	K562	blood:	n/a	n/a
4	RCOR1	chr3:137833657-137834939	Hela-S3	cervix:	n/a	n/a
5	POLR2A	chr3:137833703-137834891	HCT-116	colon:	n/a	n/a
6	STAT3	chr3:137834136-137834676	MCF10A-Er-Src	breast:	n/a	chr3:137834285-137834294 chr3:137834286-137834295 chr3:137834286-137834294 chr3:137834280-137834300
7	POLR2A	chr3:137833706-137834851	Hela-S3	cervix:	n/a	n/a
8	MXI1	chr3:137833789-137834813	Hela-S3	cervix:	n/a	n/a
9	HDAC2	chr3:137833781-137834798	MCF-7	breast:	n/a	n/a
10	POLR2A	chr3:137833989-137834865	U87	brain:	n/a	n/a
11	TCF12	chr3:137833086-137834872	A549	lung:	n/a	chr3:137834135-137834143
12	TEAD4	chr3:137833815-137834759	ECC-1	luminal epithelium:	n/a	n/a
13	MAX	chr3:137833461-137834847	A549	lung:	n/a	chr3:137834232-137834241
14	MAX	chr3:137833805-137834864	ECC-1	luminal epithelium:	n/a	chr3:137834232-137834241
15	CTCF	chr3:137834320-137834470	GM06990	blood:	n/a	n/a
16	CTCF	chr3:137833711-137834571	IMR90	lung:	n/a	n/a
17	UBTF	chr3:137833796-137834557	K562	blood:	n/a	n/a
18	POLR2A	chr3:137833245-137835104	Hela-S3	cervix:	n/a	n/a
19	BHLHE40	chr3:137833655-137834725	K562	blood:	n/a	chr3:137834021-137834037
20	POLR2A	chr3:137833960-137834792	PFSK-1	brain:	n/a	n/a
21	MAFK	chr3:137834025-137834682	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr3:137833978-137834859	U87	brain:	n/a	n/a
23	POLR2A	chr3:137833354-137834594	HepG2	liver:	n/a	n/a
24	E2F6	chr3:137834276-137834441	K562	blood:	n/a	n/a
25	TAF1	chr3:137834296-137834822	H1-hESC	embryonic stem cell:	n/a	n/a
26	CHD2	chr3:137833903-137834802	Hela-S3	cervix:	n/a	chr3:137834484-137834494 chr3:137834016-137834026
27	POLR2A	chr3:137833985-137834822	SK-N-MC	brain:	n/a	n/a
28	POLR2A	chr3:137833446-137834797	HEK293	kidney:	n/a	n/a
29	E2F4	chr3:137833800-137834747	MCF10A-Er-Src	breast:	n/a	chr3:137834566-137834578 chr3:137834017-137834029 chr3:137834149-137834156 chr3:137834149-137834156 chr3:137834144-137834159 chr3:137834149-137834156 chr3:137834148-137834160 chr3:137833979-137833993 chr3:137833976-137833990 chr3:137834192-137834204
30	TAF1	chr3:137834259-137834761	Hela-S3	cervix:	n/a	n/a
31	MAX	chr3:137833775-137834862	ECC-1	luminal epithelium:	n/a	chr3:137834232-137834241
32	MAX	chr3:137833857-137834462	HepG2	liver:	n/a	chr3:137834232-137834241
33	MAX	chr3:137834386-137834556	A549	lung:	n/a	n/a
34	POLR2A	chr3:137832958-137835110	IMR90	lung:	n/a	n/a
35	SIN3A	chr3:137833523-137834769	H1-hESC	embryonic stem cell:	n/a	chr3:137834401-137834415 chr3:137833987-137834000
36	SIN3AK20	chr3:137833774-137834687	PANC-1	pancreas:	n/a	n/a
37	YY1	chr3:137833812-137834817	SK-N-SH	brain:	n/a	n/a
38	TAF1	chr3:137834253-137834632	SK-N-SH	brain:	n/a	n/a
39	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
40	POLR2A	chr3:137833723-137834771	HepG2	liver:	n/a	n/a
41	RAD21	chr3:137833820-137834748	IMR90	lung:	n/a	n/a
42	CEBPB	chr3:137834272-137834592	H1-hESC	embryonic stem cell:	n/a	n/a
43	MAX	chr3:137833706-137834852	SK-N-SH	brain:	n/a	chr3:137834232-137834241
44	HMGN3	chr3:137833841-137834789	K562	blood:	n/a	n/a
45	TCF7L2	chr3:137833699-137834752	Hela-S3	cervix:	n/a	n/a
46	MYC	chr3:137834314-137834448	MCF-7	breast:	n/a	n/a
47	E2F6	chr3:137833834-137834475	H1-hESC	embryonic stem cell:	n/a	chr3:137834017-137834029 chr3:137834016-137834027 chr3:137834149-137834156 chr3:137834149-137834156 chr3:137834144-137834159 chr3:137834149-137834156 chr3:137834148-137834160 chr3:137833979-137833993 chr3:137833976-137833990 chr3:137834192-137834204
48	CCNT2	chr3:137833713-137834448	K562	blood:	n/a	chr3:137834325-137834334
49	YY1	chr3:137833830-137834695	ECC-1	luminal epithelium:	n/a	n/a
50	EP300	chr3:137834317-137834786	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:137834045..137835023-chr5:180670513..180671496,2	Hela-S3	cervix:

Variant related genes	Relation type
DZIP1L	TF binding region
ENSG00000204628	Chromatin interaction

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	chr3:137833200-137834800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:137833200-137834800	Active TSS	Duodenum Smooth Muscle	Duodenum
5	chr3:137833200-137834800	Active TSS	HSMM	muscle
6	chr3:137833200-137835000	Active TSS	H9 Cell Line	embryonic stem cell
7	chr3:137833200-137835000	Active TSS	Aorta	Aorta
8	chr3:137833200-137835200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr3:137833400-137834600	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr3:137833400-137834600	Active TSS	Colonic Mucosa	Colon
11	chr3:137833400-137834600	Bivalent/Poised TSS	Fetal Intestine Large	intestine
12	chr3:137833400-137834600	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr3:137833400-137834800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
14	chr3:137833400-137834800	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr3:137833400-137834800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr3:137833400-137834800	Active TSS	Esophagus	oesophagus
17	chr3:137833400-137835000	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr3:137833400-137835000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr3:137833400-137835000	Active TSS	iPS-15b Cell Line	embryonic stem cell
20	chr3:137833400-137835000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr3:137833400-137835200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr3:137833400-137835200	Bivalent/Poised TSS	Primary T cells from cord blood	blood
23	chr3:137833400-137835200	Active TSS	Fetal Kidney	kidney
24	chr3:137833400-137835400	Active TSS	ES-I3 Cell Line	embryonic stem cell
25	chr3:137833400-137835400	Active TSS	A549	lung
26	chr3:137833600-137834600	Active TSS	HUES64 Cell Line	embryonic stem cell
27	chr3:137833600-137834600	Active TSS	Placenta Amnion	Placenta Amnion
28	chr3:137833600-137834800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
29	chr3:137833600-137834800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr3:137833600-137834800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr3:137833600-137834800	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
32	chr3:137833600-137834800	Flanking Active TSS	Liver	Liver
33	chr3:137833600-137834800	Active TSS	Brain Anterior Caudate	brain
34	chr3:137833600-137834800	Active TSS	Gastric	stomach
35	chr3:137833600-137834800	Bivalent/Poised TSS	HepG2	liver
36	chr3:137833600-137835000	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr3:137833600-137835000	Active TSS	iPS-20b Cell Line	embryonic stem cell
38	chr3:137833600-137835000	Active TSS	Breast Myoepithelial Primary Cells	Breast
39	chr3:137833600-137835000	Active TSS	Muscle Satellite Cultured Cells	--
40	chr3:137833600-137835000	Active TSS	Ovary	ovary
41	chr3:137833600-137835000	Active TSS	Right Atrium	heart
42	chr3:137833600-137835000	Active TSS	Right Ventricle	heart
43	chr3:137833600-137835000	Active TSS	NHDF-Ad	bronchial
44	chr3:137833600-137835000	Active TSS	NHLF	lung
45	chr3:137833600-137835200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr3:137833600-137835200	Active TSS	Fetal Lung	lung
47	chr3:137833800-137834600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr3:137833800-137834600	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr3:137833800-137834600	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
50	chr3:137833800-137834600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood

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