Variant report

Variant	rs547839466
Chromosome Location	chr15:41851128-41851129
allele	A/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	CTCF	chr15:41851020-41851170	GM12870	blood:	n/a	chr15:41851122-41851135
2	RAD21	chr15:41851061-41851245	SK-N-SH_RA	brain:	n/a	n/a
3	CTCF	chr15:41851020-41851170	GM12875	blood:	n/a	chr15:41851122-41851135
4	MAZ	chr15:41849715-41852326	IMR90	lung:	n/a	n/a
5	CTCF	chr15:41850710-41851309	K562	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
6	CTCF	chr15:41851100-41851250	GM12869	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
7	SMC3	chr15:41851083-41851272	K562	blood:	n/a	n/a
8	CTCF	chr15:41851099-41851174	Lung_OC	lung:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
9	MAZ	chr15:41850922-41851481	HepG2	liver:	n/a	n/a
10	POLR2A	chr15:41851078-41851659	HEK293	kidney:	n/a	n/a
11	CCNT2	chr15:41850900-41851648	K562	blood:	n/a	n/a
12	CTCF	chr15:41851020-41851170	HUVEC	blood vessel:	n/a	chr15:41851122-41851135
13	CTCF	chr15:41851048-41851201	GM10266	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
14	HA-E2F1	chr15:41850909-41852029	Hela-S3	cervix:	n/a	chr15:41851864-41851871 chr15:41851864-41851871 chr15:41851863-41851872 chr15:41851864-41851871 chr15:41851863-41851875
15	CTCF	chr15:41851020-41851170	HCPEpiC	choroid plexus:	n/a	chr15:41851122-41851135
16	FOXP2	chr15:41851060-41851571	PFSK-1	brain:	n/a	n/a
17	CREB1	chr15:41850970-41851637	K562	blood:	n/a	n/a
18	CTCF	chr15:41851078-41851223	GM10248	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
19	POLR2A	chr15:41851061-41851512	Hela-S3	cervix:	n/a	n/a
20	SMC3	chr15:41850582-41851297	Hela-S3	cervix:	n/a	n/a
21	CTCF	chr15:41851049-41851251	GM12892	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
22	CTCF	chr15:41850972-41851269	HepG2	liver:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
23	CTCF	chr15:41850987-41851284	IMR90	lung:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
24	CTCFL	chr15:41851011-41851216	K562	blood:	n/a	n/a
25	CTCF	chr15:41851060-41851210	GM12873	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
26	TAF1	chr15:41851071-41851577	K562	blood:	n/a	n/a
27	ZBTB7A	chr15:41850806-41852117	ECC-1	luminal epithelium:	n/a	chr15:41851756-41851764
28	CTCF	chr15:41850611-41851306	K562	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
29	SIN3AK20	chr15:41850954-41851622	K562	blood:	n/a	n/a
30	CTCF	chr15:41851060-41851210	GM12864	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
31	CTCF	chr15:41851064-41851186	Hela-S3	cervix:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
32	CTCF	chr15:41851040-41851190	GM12868	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
33	CTCF	chr15:41851054-41851212	GM13977	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
34	POLR2A	chr15:41851078-41851613	ProgFib	skin:	n/a	n/a
35	CTCF	chr15:41851026-41851249	GM19240	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
36	RAD21	chr15:41851060-41851228	GM12878	blood:	n/a	n/a
37	POLR2A	chr15:41851054-41851583	HCT-116	colon:	n/a	n/a
38	CREB1	chr15:41851053-41851443	A549	lung:	n/a	n/a
39	RAD21	chr15:41850986-41851248	HepG2	liver:	n/a	n/a
40	TAF1	chr15:41851096-41851611	ECC-1	luminal epithelium:	n/a	n/a
41	POLR2A	chr15:41850985-41851644	H1-neurons	neurons:	n/a	n/a
42	RAD21	chr15:41850847-41851351	IMR90	lung:	n/a	n/a
43	CTCF	chr15:41851016-41851233	GM19238	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172
44	RAD21	chr15:41850963-41851288	HepG2	liver:	n/a	n/a
45	CTCF	chr15:41850980-41851130	GM12864	blood:	n/a	n/a
46	MYC	chr15:41851093-41851328	K562	blood:	n/a	n/a
47	RAD21	chr15:41851012-41851557	HepG2	liver:	n/a	n/a
48	POLR2A	chr15:41851002-41851566	HUVEC	blood vessel:	n/a	n/a
49	CTCFL	chr15:41850992-41851178	K562	blood:	n/a	n/a
50	CTCF	chr15:41851037-41851239	GM19239	blood:	n/a	chr15:41851122-41851135 chr15:41851159-41851172

No.	Distal block	Cell Line	Cell type
1	chr15:41850304..41852496-chr15:41951450..41954168,2	MCF-7	breast:
2	chr15:41851029..41853126-chr15:41899971..41902269,2	K562	blood:
3	chr15:41849860..41852803-chr15:41858013..41860929,2	MCF-7	breast:
4	chr15:41847317..41853712-chr15:41951201..41955578,8	K562	blood:
5	chr15:41834571..41836708-chr15:41849262..41851156,2	K562	blood:
6	chr15:41849459..41853162-chr15:41854225..41857161,4	MCF-7	breast:
7	chr15:41784400..41789772-chr15:41847283..41854059,7	K562	blood:
8	chr15:41849370..41852913-chr15:41951069..41953769,6	K562	blood:
9	chr15:41850576..41853126-chr15:41900769..41903357,2	K562	blood:

Variant related genes	Relation type
TYRO3	TF binding region
ENSG00000174197	Chromatin interaction
ENSG00000260926	Chromatin interaction
ENSG00000103932	Chromatin interaction
ENSG00000092445	Chromatin interaction
ENSG00000137825	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	esv3379660	chr15:41850410-41852608	Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	6 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	chr15:41850000-41852200	Enhancers	Liver	Liver
2	chr15:41850000-41853000	Enhancers	Fetal Heart	heart
3	chr15:41850200-41852200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr15:41850200-41852600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr15:41850200-41852600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr15:41850200-41853200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr15:41850400-41852200	Active TSS	Brain Inferior Temporal Lobe	brain
8	chr15:41850600-41851200	Transcr. at gene 5' and 3'	Right Atrium	heart
9	chr15:41850600-41851200	Flanking Bivalent TSS/Enh	Thymus	Thymus
10	chr15:41850600-41851800	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr15:41850600-41852000	Active TSS	ES-I3 Cell Line	embryonic stem cell
12	chr15:41850600-41852000	Flanking Active TSS	Primary hematopoietic stem cells	blood
13	chr15:41850600-41852000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
14	chr15:41850600-41852200	Active TSS	iPS-15b Cell Line	embryonic stem cell
15	chr15:41850600-41852200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr15:41850600-41852200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr15:41850600-41852200	Active TSS	Aorta	Aorta
18	chr15:41850600-41852200	Active TSS	Fetal Brain Female	brain
19	chr15:41850600-41852200	Active TSS	Psoas Muscle	Psoas
20	chr15:41850600-41852400	Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr15:41850600-41852600	Active TSS	Brain Angular Gyrus	brain
22	chr15:41850800-41851200	Active TSS	Primary mononuclear cells fromperipheralblood	Blood
23	chr15:41850800-41851600	Active TSS	Rectal Mucosa Donor 29	rectum
24	chr15:41850800-41851800	Active TSS	Breast Myoepithelial Primary Cells	Breast
25	chr15:41850800-41851800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr15:41850800-41851800	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr15:41850800-41851800	Active TSS	Duodenum Mucosa	Duodenum
28	chr15:41850800-41851800	Active TSS	Esophagus	oesophagus
29	chr15:41850800-41851800	Weak transcription	Fetal Brain Male	brain
30	chr15:41850800-41851800	Active TSS	Rectal Mucosa Donor 31	rectum
31	chr15:41850800-41851800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
32	chr15:41850800-41851800	Active TSS	NHEK	skin
33	chr15:41850800-41852000	Active TSS	HUES48 Cell Line	embryonic stem cell
34	chr15:41850800-41852000	Active TSS	HUES6 Cell Line	embryonic stem cell
35	chr15:41850800-41852000	Active TSS	HUES64 Cell Line	embryonic stem cell
36	chr15:41850800-41852000	Active TSS	iPS-18 Cell Line	embryonic stem cell
37	chr15:41850800-41852000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
38	chr15:41850800-41852000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr15:41850800-41852000	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr15:41850800-41852000	Active TSS	Brain Cingulate Gyrus	brain
41	chr15:41850800-41852000	Active TSS	Colon Smooth Muscle	Colon
42	chr15:41850800-41852000	Active TSS	Fetal Intestine Large	intestine
43	chr15:41850800-41852000	Active TSS	Lung	lung
44	chr15:41850800-41852200	Active TSS	H1 Cell Line	embryonic stem cell
45	chr15:41850800-41852200	Active TSS	Brain Anterior Caudate	brain
46	chr15:41850800-41852200	Active TSS	Ovary	ovary
47	chr15:41850800-41852200	Active TSS	HSMMtube	muscle
48	chr15:41850800-41852200	Active TSS	NHDF-Ad	bronchial
49	chr15:41850800-41852200	Active TSS	NHLF	lung
50	chr15:41850800-41852400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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