Variant report

Variant	rs565274937
Chromosome Location	chr3:140950630-140950631
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	CTCF	chr3:140950500-140950650	GM12865	blood:	n/a	n/a
2	ZMIZ1	chr3:140950305-140950748	K562	blood:	n/a	n/a
3	CTCF	chr3:140950442-140950726	ECC-1	luminal epithelium:	n/a	chr3:140950677-140950690
4	CTCF	chr3:140950298-140950829	K562	blood:	n/a	chr3:140950677-140950690
5	JUND	chr3:140950193-140950897	A549	lung:	n/a	n/a
6	YY1	chr3:140950433-140950734	SK-N-SH_RA	brain:	n/a	chr3:140950518-140950529 chr3:140950513-140950522
7	POLR2A	chr3:140950206-140950644	HUVEC	blood vessel:	n/a	n/a
8	SMC3	chr3:140950411-140950802	Hela-S3	cervix:	n/a	n/a
9	EGR1	chr3:140950307-140950800	K562	blood:	n/a	chr3:140950512-140950521 chr3:140950511-140950521 chr3:140950511-140950524 chr3:140950516-140950526
10	YY1	chr3:140950404-140950846	SK-N-SH_RA	brain:	n/a	chr3:140950518-140950529 chr3:140950513-140950522
11	JUND	chr3:140950075-140950865	K562	blood:	n/a	n/a
12	EP300	chr3:140950358-140950723	SK-N-SH_RA	brain:	n/a	chr3:140950689-140950705
13	CTCF	chr3:140950520-140950670	GM12875	blood:	n/a	n/a
14	POLR2A	chr3:140949896-140950901	K562	blood:	n/a	n/a
15	SMC3	chr3:140950445-140950812	K562	blood:	n/a	n/a
16	MAX	chr3:140950280-140950802	K562	blood:	n/a	chr3:140950515-140950525
17	YY1	chr3:140950398-140950790	GM12878	blood:	n/a	chr3:140950518-140950529 chr3:140950513-140950522
18	FOXA1	chr3:140950364-140950736	T-47D	breast:	n/a	n/a
19	ZNF143	chr3:140950429-140950745	Hela-S3	cervix:	n/a	n/a
20	MAX	chr3:140949979-140950840	GM12878	blood:	n/a	chr3:140950515-140950525 chr3:140950247-140950256 chr3:140950245-140950255
21	RUNX3	chr3:140949871-140950692	GM12878	blood:	n/a	n/a
22	HEY1	chr3:140950626-140950815	K562	blood:	n/a	chr3:140950693-140950708
23	POLR2A	chr3:140949861-140950804	GM12878	blood:	n/a	n/a
24	CTCF	chr3:140950500-140950650	HPF	lung:	n/a	n/a
25	CTCF	chr3:140950486-140950748	LNCaP	prostate:	n/a	chr3:140950677-140950690
26	TAF1	chr3:140950197-140950916	ECC-1	luminal epithelium:	n/a	n/a
27	ELF1	chr3:140949876-140950957	GM12878	blood:	n/a	chr3:140950114-140950127 chr3:140950540-140950549 chr3:140950315-140950324
28	CTCF	chr3:140950314-140950844	MCF-7	breast:	n/a	chr3:140950677-140950690
29	POLR2A	chr3:140950175-140950913	MCF-7	breast:	n/a	n/a
30	CTCF	chr3:140950520-140950670	HUVEC	blood vessel:	n/a	n/a
31	RAD21	chr3:140950387-140950891	ECC-1	luminal epithelium:	n/a	n/a
32	RAD21	chr3:140950430-140950783	HepG2	liver:	n/a	n/a
33	CTCF	chr3:140950396-140950765	Fibrobl	skin:	n/a	chr3:140950677-140950690
34	TAF1	chr3:140949820-140950701	GM12878	blood:	n/a	n/a
35	MAZ	chr3:140950310-140950758	HepG2	liver:	n/a	chr3:140950515-140950525
36	CTCF	chr3:140950520-140950670	HPAF	blood vessel:	n/a	n/a
37	MXI1	chr3:140950006-140950758	GM12878	blood:	n/a	n/a
38	BCLAF1	chr3:140950287-140950767	GM12878	blood:	n/a	chr3:140950547-140950556 chr3:140950513-140950526
39	ETS1	chr3:140950379-140950735	K562	blood:	n/a	n/a
40	CTCF	chr3:140950332-140950805	H1-hESC	embryonic stem cell:	n/a	chr3:140950677-140950690
41	EP300	chr3:140950486-140950651	HepG2	liver:	n/a	n/a
42	CTCF	chr3:140950500-140950650	GM12872	blood:	n/a	n/a
43	MAX	chr3:140950431-140950862	Hela-S3	cervix:	n/a	chr3:140950515-140950525
44	HNF4G	chr3:140950399-140950759	HepG2	liver:	n/a	n/a
45	CTCF	chr3:140950469-140950731	Medullo	brain:	n/a	chr3:140950677-140950690
46	YY1	chr3:140950447-140950774	GM12891	blood:	n/a	chr3:140950518-140950529 chr3:140950513-140950522
47	CTCF	chr3:140950398-140950764	GM19239	blood:	n/a	chr3:140950677-140950690
48	TAF1	chr3:140949908-140950760	PFSK-1	brain:	n/a	n/a
49	CTCF	chr3:140950462-140950747	Pancreas_OC	pancreas:	n/a	chr3:140950677-140950690
50	EP300	chr3:140950329-140950816	SK-N-SH_RA	brain:	n/a	chr3:140950689-140950705

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:140950619-140950669	PFSK-1	brain:	n/a
2	chr3:140950598-140950648	ovcar-3	ovarian:	n/a
3	chr3:140950598-140950648	SK-N-MC	brain:	n/a
4	chr3:140950598-140950648	HCT-116	colon:	n/a
5	chr3:140950619-140950669	PANC-1	pancreas:	n/a
6	chr3:140950619-140950669	AG10803	skin:	n/a
7	chr3:140950598-140950648	SK-N-SH	brain:	n/a
8	chr3:140950619-140950669	ProgFib	skin:	n/a
9	chr3:140950619-140950669	Jurkat	blood:	n/a
10	chr3:140950598-140950648	HEEpiC	esophagus:	n/a
11	chr3:140950598-140950648	HNPCEpiC	eye:	n/a
12	chr3:140950619-140950669	HCT-116	colon:	n/a
13	chr3:140950598-140950648	NHDF-neo	bronchial:	n/a
14	chr3:140950598-140950648	Hela-S3	cervix:	n/a
15	chr3:140950619-140950669	GM19239	blood:	n/a
16	chr3:140950619-140950669	HCPEpiC	choroid plexus:	n/a
17	chr3:140950598-140950648	K562	blood:	n/a
18	chr3:140950598-140950648	Hepatocyte	liver:	n/a
19	chr3:140950619-140950669	U87	brain:	n/a
20	chr3:140950619-140950669	T-47D	breast:	n/a
21	chr3:140950619-140950669	CMK	blood:	n/a
22	chr3:140950619-140950669	MCF-7	breast:	n/a
23	chr3:140950598-140950648	AG04450	lung:	fetal
24	chr3:140950619-140950669	HRCEpiC	kidney:	n/a
25	chr3:140950598-140950648	NB4	blood:	n/a
26	chr3:140950598-140950648	HMEC	breast:	n/a
27	chr3:140950619-140950669	HPAEpiC	pulmonary alveolar:	n/a
28	chr3:140950598-140950648	MCF-7	breast:	n/a
29	chr3:140950619-140950669	GM12878	blood:	n/a
30	chr3:140950619-140950669	AG09309	skin:	n/a
31	chr3:140950598-140950648	A549	lung:	n/a
32	chr3:140950619-140950669	PrEC	prostate:	n/a
33	chr3:140950619-140950669	NT2-D1	testis:	n/a
34	chr3:140950619-140950669	Hepatocyte	liver:	n/a
35	chr3:140950598-140950648	ECC-1	luminal epithelium:	n/a
36	chr3:140950619-140950669	SK-N-MC	brain:	n/a
37	chr3:140950619-140950669	GM12892	blood:	n/a
38	chr3:140950619-140950669	RPTEC	kidney:	n/a
39	chr3:140950619-140950669	LNCaP	prostate:	n/a
40	chr3:140950598-140950648	PANC-1	pancreas:	n/a
41	chr3:140950619-140950669	MCF10A-Er-Src	breast:	n/a
42	chr3:140950619-140950669	SKMC	muscle:	n/a
43	chr3:140950598-140950648	GM06990	blood:	n/a
44	chr3:140950619-140950669	BE2_C	brain:	n/a
45	chr3:140950619-140950669	HEK293	kidney:	embryo
46	chr3:140950598-140950648	H1-hESC	embryonic stem cell:	embryo
47	chr3:140950598-140950648	HCM	heart:	n/a
48	chr3:140950619-140950669	AG04450	lung:	fetal
49	chr3:140950598-140950648	HCF	heart:	n/a
50	chr3:140950619-140950669	GM06990	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr22:32339912..32340876-chr3:140949983..140950634,2	HCT-116	colon:
2	chr3:140949328..140952346-chr3:140991131..140995521,4	MCF-7	breast:
3	chr3:140949685..140950639-chr3:140993821..140994433,2	MCF-7	breast:

Variant related genes	Relation type
ACPL2	TF binding region
ACPL2	CpG island
ENSG00000155893	Chromatin interaction
ENSG00000128245	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460870	chr3:140938546-141005574	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv591892	chr3:140938546-141005574	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3512631	chr3:140949362-140952160	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3512632	chr3:140949362-140952160	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140949800-140951200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
2	chr3:140949800-140951200	Active TSS	Right Ventricle	heart
3	chr3:140949800-140951400	Active TSS	Placenta Amnion	Placenta Amnion
4	chr3:140949800-140951400	Active TSS	Rectal Mucosa Donor 31	rectum
5	chr3:140949800-140951400	Active TSS	Rectal Smooth Muscle	rectum
6	chr3:140949800-140951600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr3:140949800-140951600	Active TSS	Aorta	Aorta
8	chr3:140949800-140951600	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr3:140949800-140951600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr3:140949800-140951600	Active TSS	Ovary	ovary
11	chr3:140949800-140951600	Active TSS	Psoas Muscle	Psoas
12	chr3:140949800-140951600	Active TSS	Sigmoid Colon	Sigmoid Colon
13	chr3:140949800-140952000	Active TSS	H9 Cell Line	embryonic stem cell
14	chr3:140949800-140952000	Active TSS	Left Ventricle	heart
15	chr3:140950000-140950800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr3:140950000-140950800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
17	chr3:140950000-140950800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
18	chr3:140950000-140951200	Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr3:140950000-140951200	Active TSS	iPS-18 Cell Line	embryonic stem cell
20	chr3:140950000-140951200	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr3:140950000-140951200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
22	chr3:140950000-140951400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr3:140950000-140951400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr3:140950000-140951400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr3:140950000-140951400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr3:140950000-140951400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr3:140950000-140951400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr3:140950000-140951400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr3:140950000-140951400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr3:140950000-140951400	Active TSS	Brain Anterior Caudate	brain
31	chr3:140950000-140951400	Active TSS	Brain Inferior Temporal Lobe	brain
32	chr3:140950000-140951400	Active TSS	Colon Smooth Muscle	Colon
33	chr3:140950000-140951400	Active TSS	Duodenum Mucosa	Duodenum
34	chr3:140950000-140951400	Active TSS	Fetal Kidney	kidney
35	chr3:140950000-140951600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
36	chr3:140950000-140951600	Active TSS	Primary T cells from cord blood	blood
37	chr3:140950000-140951600	Active TSS	Primary T helper naive cells from peripheral blood	blood
38	chr3:140950000-140951600	Active TSS	Small Intestine	intestine
39	chr3:140950000-140951600	Flanking Active TSS	HMEC	breast
40	chr3:140950000-140951800	Active TSS	Brain Hippocampus Middle	brain
41	chr3:140950000-140951800	Active TSS	Brain Substantia Nigra	brain
42	chr3:140950000-140952000	Active TSS	Brain Angular Gyrus	brain
43	chr3:140950000-140952000	Active TSS	Brain Cingulate Gyrus	brain
44	chr3:140950200-140950800	Active TSS	Fetal Stomach	stomach
45	chr3:140950200-140951000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
46	chr3:140950200-140951200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr3:140950200-140951200	Active TSS	Primary monocytes fromperipheralblood	blood
48	chr3:140950200-140951200	Active TSS	Primary B cells from peripheral blood	blood
49	chr3:140950200-140951200	Active TSS	Primary T cells fromperipheralblood	blood
50	chr3:140950200-140951200	Active TSS	Primary T helper cells PMA-I stimulated	--

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