Variant report

Variant	rs13194924
Chromosome Location	chr6:144385691-144385692
allele	C/G
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	POLR2A	chr6:144384934-144386753	GM12892	blood:	n/a	n/a
2	YY1	chr6:144385528-144385896	K562	blood:	n/a	chr6:144385721-144385730
3	POLR2A	chr6:144384538-144386734	GM12878	blood:	n/a	n/a
4	TAF1	chr6:144384875-144385940	ECC-1	luminal epithelium:	n/a	n/a
5	POLR2A	chr6:144384547-144387139	GM12878	blood:	n/a	n/a
6	CTCF	chr6:144385600-144385750	K562	blood:	n/a	n/a
7	POLR2A	chr6:144385041-144386623	GM12891	blood:	n/a	n/a
8	TAL1	chr6:144385047-144386461	K562	blood:	n/a	n/a
9	RELA	chr6:144384589-144386806	GM12891	blood:	n/a	n/a
10	CHD1	chr6:144384197-144386703	GM12878	blood:	n/a	chr6:144384944-144384954 chr6:144385541-144385551
11	EGR1	chr6:144385663-144386004	H1-hESC	embryonic stem cell:	n/a	chr6:144385835-144385844 chr6:144385834-144385847 chr6:144385835-144385845 chr6:144385831-144385845 chr6:144385834-144385847 chr6:144385834-144385844 chr6:144385829-144385851 chr6:144385834-144385847 chr6:144385833-144385848 chr6:144385835-144385846 chr6:144385833-144385847
12	YY1	chr6:144385604-144385925	GM12891	blood:	n/a	chr6:144385721-144385730
13	UBTF	chr6:144384850-144386129	K562	blood:	n/a	n/a
14	MAX	chr6:144385042-144385900	H1-hESC	embryonic stem cell:	n/a	chr6:144385471-144385480 chr6:144385575-144385585 chr6:144385185-144385195 chr6:144385507-144385516 chr6:144385471-144385481 chr6:144385470-144385481 chr6:144385472-144385479
15	PAX5	chr6:144384794-144385840	GM12892	blood:	n/a	n/a
16	E2F6	chr6:144384531-144386215	K562	blood:	n/a	chr6:144385529-144385538 chr6:144384905-144384913 chr6:144384906-144384913 chr6:144384905-144384913 chr6:144385180-144385189 chr6:144385247-144385256 chr6:144384946-144384955 chr6:144385722-144385737 chr6:144384987-144384996 chr6:144385721-144385730
17	YY1	chr6:144385044-144386010	GM12878	blood:	n/a	chr6:144385721-144385730 chr6:144385527-144385541 chr6:144385454-144385468 chr6:144385172-144385186 chr6:144385180-144385189 chr6:144385247-144385261
18	MAX	chr6:144384809-144386411	NB4	blood:	n/a	chr6:144385471-144385480 chr6:144385575-144385585 chr6:144385185-144385195 chr6:144385507-144385516 chr6:144385471-144385481 chr6:144385470-144385481 chr6:144385472-144385479
19	MAX	chr6:144384376-144385855	ECC-1	luminal epithelium:	n/a	chr6:144385471-144385480 chr6:144385575-144385585 chr6:144385185-144385195 chr6:144385507-144385516 chr6:144385471-144385481 chr6:144385470-144385481 chr6:144385472-144385479
20	PML	chr6:144384510-144386835	GM12878	blood:	n/a	n/a
21	EGR1	chr6:144385652-144385967	GM12878	blood:	n/a	chr6:144385835-144385844 chr6:144385834-144385847 chr6:144385835-144385845 chr6:144385831-144385845 chr6:144385834-144385847 chr6:144385834-144385844 chr6:144385829-144385851 chr6:144385834-144385847 chr6:144385833-144385848 chr6:144385835-144385846 chr6:144385833-144385847
22	MXI1	chr6:144384328-144387020	GM12878	blood:	n/a	chr6:144386324-144386333
23	TAF1	chr6:144385010-144386119	GM12878	blood:	n/a	n/a
24	MYC	chr6:144384693-144386469	K562	blood:	n/a	chr6:144385471-144385480 chr6:144385575-144385585 chr6:144385185-144385195 chr6:144385507-144385516 chr6:144385471-144385481 chr6:144385470-144385481 chr6:144385472-144385479
25	RELA	chr6:144384524-144387008	GM18951	blood:	n/a	n/a
26	POLR2A	chr6:144384674-144385982	GM12878	blood:	n/a	n/a
27	HDAC2	chr6:144385654-144385962	HepG2	liver:	n/a	n/a
28	MAZ	chr6:144384390-144386143	K562	blood:	n/a	chr6:144385471-144385480 chr6:144385575-144385585 chr6:144385185-144385195 chr6:144385507-144385516 chr6:144385471-144385481 chr6:144385470-144385481 chr6:144385472-144385479
29	POLR2A	chr6:144384669-144386491	K562	blood:	n/a	n/a
30	MYC	chr6:144384393-144386422	K562	blood:	n/a	chr6:144385471-144385480 chr6:144385575-144385585 chr6:144385185-144385195 chr6:144385507-144385516 chr6:144385471-144385481 chr6:144385470-144385481 chr6:144385472-144385479
31	ZBTB7A	chr6:144384711-144385980	ECC-1	luminal epithelium:	n/a	chr6:144385748-144385755
32	POLR2A	chr6:144384869-144385912	MCF-7	breast:	n/a	n/a
33	ELF1	chr6:144384735-144386027	GM12878	blood:	n/a	chr6:144385297-144385309
34	E2F6	chr6:144385013-144385880	H1-hESC	embryonic stem cell:	n/a	chr6:144385529-144385538 chr6:144385180-144385189 chr6:144385247-144385256 chr6:144385722-144385737 chr6:144385721-144385730
35	POLR2A	chr6:144384641-144385995	GM12878	blood:	n/a	n/a
36	POLR2A	chr6:144384431-144386642	GM12892	blood:	n/a	n/a
37	RUNX3	chr6:144384640-144386777	GM12878	blood:	n/a	n/a
38	ATF2	chr6:144384629-144386093	GM12878	blood:	n/a	n/a
39	EGR1	chr6:144384562-144386154	HCT-116	colon:	n/a	chr6:144385498-144385511 chr6:144385534-144385544 chr6:144385835-144385844 chr6:144385834-144385847 chr6:144385835-144385845 chr6:144385831-144385845 chr6:144385834-144385847 chr6:144385834-144385844 chr6:144385829-144385851 chr6:144385179-144385189 chr6:144385530-144385543 chr6:144384947-144384960 chr6:144385834-144385847 chr6:144385833-144385848 chr6:144385835-144385846 chr6:144385297-144385307 chr6:144385833-144385847
40	POLR2A	chr6:144384322-144387098	GM12878	blood:	n/a	n/a
41	POLR2A	chr6:144384210-144386805	GM19193	blood:	n/a	n/a
42	SPI1	chr6:144385089-144385850	GM12891	blood:	n/a	chr6:144385730-144385743
43	POLR2A	chr6:144384676-144386175	K562	blood:	n/a	n/a
44	YY1	chr6:144385042-144385800	HepG2	liver:	n/a	chr6:144385721-144385730 chr6:144385527-144385541 chr6:144385454-144385468 chr6:144385172-144385186 chr6:144385180-144385189 chr6:144385247-144385261
45	CREB1	chr6:144384726-144386614	GM12878	blood:	n/a	n/a
46	CBX3	chr6:144385657-144386255	K562	blood:	n/a	n/a
47	TBL1XR1	chr6:144384272-144386715	GM12878	blood:	n/a	n/a
48	POLR2A	chr6:144385002-144385820	H1-hESC	embryonic stem cell:	n/a	n/a
49	E2F6	chr6:144385568-144385966	K562	blood:	n/a	chr6:144385722-144385737 chr6:144385721-144385730
50	PAX5	chr6:144384932-144385906	GM12878	blood:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr6:144385672-144385722	SK-N-SH_RA	brain:	n/a
2	chr6:144385672-144385722	HepG2	liver:	n/a
3	chr6:144385672-144385722	LNCaP	prostate:	n/a
4	chr6:144385672-144385722	RPTEC	kidney:	n/a
5	chr6:144385672-144385722	NH-A	brain:	n/a
6	chr6:144385672-144385722	SK-N-MC	brain:	n/a
7	chr6:144385672-144385722	NT2-D1	testis:	n/a
8	chr6:144385672-144385722	HPAEpiC	pulmonary alveolar:	n/a
9	chr6:144385672-144385722	ProgFib	skin:	n/a
10	chr6:144385672-144385722	HAEpiC	amniotic membrane:	n/a
11	chr6:144385672-144385722	HNPCEpiC	eye:	n/a
12	chr6:144385672-144385722	A549	lung:	n/a
13	chr6:144385672-144385722	K562	blood:	n/a
14	chr6:144385672-144385722	NB4	blood:	n/a
15	chr6:144385672-144385722	AoSMC	blood vessel:	n/a
16	chr6:144385672-144385722	NHDF-neo	bronchial:	n/a
17	chr6:144385672-144385722	HEK293	kidney:	embryo
18	chr6:144385672-144385722	HCPEpiC	choroid plexus:	n/a
19	chr6:144385672-144385722	Hepatocyte	liver:	n/a
20	chr6:144385672-144385722	HUVEC	blood vessel:	n/a
21	chr6:144385672-144385722	HRE	kidney:	n/a
22	chr6:144385672-144385722	NHBE	bronchial:	n/a
23	chr6:144385672-144385722	IMR90	lung:	fetal
24	chr6:144385672-144385722	HMEC	breast:	n/a
25	chr6:144385672-144385722	HL-60	blood:	n/a
26	chr6:144385672-144385722	AG09319	gingival:	n/a
27	chr6:144385672-144385722	GM12878	blood:	n/a
28	chr6:144385672-144385722	HRPEpiC	eye:	n/a
29	chr6:144385672-144385722	H1-hESC	embryonic stem cell:	embryo
30	chr6:144385672-144385722	BE2_C	brain:	n/a
31	chr6:144385672-144385722	PANC-1	pancreas:	n/a
32	chr6:144385672-144385722	HIPEpiC	eye:	n/a
33	chr6:144385672-144385722	AG04450	lung:	fetal
34	chr6:144385672-144385722	AG04449	skin:	fetal
35	chr6:144385672-144385722	HEEpiC	esophagus:	n/a
36	chr6:144385672-144385722	Caco-2	colon:	n/a
37	chr6:144385672-144385722	MCF-7	breast:	n/a
38	chr6:144385672-144385722	AG09309	skin:	n/a
39	chr6:144385672-144385722	GM12892	blood:	n/a
40	chr6:144385672-144385722	HRCEpiC	kidney:	n/a
41	chr6:144385672-144385722	Jurkat	blood:	n/a
42	chr6:144385672-144385722	GM12891	blood:	n/a
43	chr6:144385672-144385722	T-47D	breast:	n/a
44	chr6:144385672-144385722	AG10803	skin:	n/a
45	chr6:144385672-144385722	SKMC	muscle:	n/a
46	chr6:144385672-144385722	CMK	blood:	n/a
47	chr6:144385672-144385722	BJ	skin:	n/a
48	chr6:144385672-144385722	HCT-116	colon:	n/a
49	chr6:144385672-144385722	Hela-S3	cervix:	n/a
50	chr6:144385672-144385722	PFSK-1	brain:	n/a

No.	Distal block	Cell Line	Cell type
1	chr6:144384139..144386162-chr6:144415974..144418368,2	MCF-7	breast:
2	chr6:143998295..144000747-chr6:144385501..144387723,2	K562	blood:
3	chr6:144382193..144387951-chr6:144413760..144419366,13	K562	blood:
4	chr6:144384404..144388265-chr6:144412934..144418087,11	K562	blood:
5	chr6:143882307..143884065-chr6:144383379..144386197,2	K562	blood:

Variant related genes	Relation type
PLAGL1	TF binding region
PLAGL1	CpG island
ENSG00000169976	Chromatin interaction
ENSG00000235740	Chromatin interaction
ENSG00000112419	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3358461	chr6:144384284-144386832	Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144383600-144387000	Active TSS	Pancreatic Islets	Pancreatic Islet
2	chr6:144384200-144386000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
3	chr6:144384200-144386000	Bivalent/Poised TSS	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr6:144384200-144386200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
5	chr6:144384200-144386200	Active TSS	Rectal Smooth Muscle	rectum
6	chr6:144384200-144386200	Bivalent/Poised TSS	NHDF-Ad	bronchial
7	chr6:144384400-144386000	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
8	chr6:144384400-144386200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr6:144384400-144386200	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr6:144384400-144386400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:144384600-144385800	Flanking Bivalent TSS/Enh	Dnd41	blood
12	chr6:144384600-144386000	Bivalent/Poised TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
13	chr6:144384600-144386000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr6:144384600-144386000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
15	chr6:144384600-144386000	Bivalent/Poised TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr6:144384600-144386000	Active TSS	Primary T helper naive cells from peripheral blood	blood
17	chr6:144384600-144386000	Active TSS	Brain Substantia Nigra	brain
18	chr6:144384600-144386000	Active TSS	Sigmoid Colon	Sigmoid Colon
19	chr6:144384600-144386200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
20	chr6:144384600-144386200	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr6:144384600-144386200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr6:144384600-144386200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
23	chr6:144384600-144386200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:144384600-144386200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr6:144384600-144386200	Active TSS	Left Ventricle	heart
26	chr6:144384600-144386200	Active TSS	Ovary	ovary
27	chr6:144384600-144386200	Active TSS	Right Ventricle	heart
28	chr6:144384600-144386200	Active TSS	Small Intestine	intestine
29	chr6:144384600-144386200	Bivalent/Poised TSS	Stomach Mucosa	stomach
30	chr6:144384600-144386200	Bivalent/Poised TSS	A549	lung
31	chr6:144384600-144386200	Bivalent/Poised TSS	HSMM	muscle
32	chr6:144384600-144386400	Active TSS	Aorta	Aorta
33	chr6:144384600-144386400	Active TSS	Colonic Mucosa	Colon
34	chr6:144384600-144386600	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr6:144384600-144386800	Active TSS	Primary T killer memory cells from peripheral blood	blood
36	chr6:144384800-144385800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
37	chr6:144384800-144385800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
38	chr6:144384800-144385800	Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr6:144384800-144385800	Active TSS	Rectal Mucosa Donor 31	rectum
40	chr6:144384800-144385800	Transcr. at gene 5' and 3'	Right Atrium	heart
41	chr6:144384800-144386000	Active TSS	Primary B cells from peripheral blood	blood
42	chr6:144384800-144386000	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
43	chr6:144384800-144386000	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr6:144384800-144386000	Active TSS	Brain Anterior Caudate	brain
45	chr6:144384800-144386000	Active TSS	Fetal Kidney	kidney
46	chr6:144384800-144386000	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr6:144384800-144386000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
48	chr6:144384800-144386000	Active TSS	Thymus	Thymus
49	chr6:144384800-144386000	Active TSS	Spleen	Spleen
50	chr6:144384800-144386000	Bivalent/Poised TSS	HSMMtube	muscle

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