Variant report

Variant	rs73391112
Chromosome Location	chr15:41850601-41850602
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	chr15:41850580-41850730	HPAF	blood vessel:	n/a	n/a
2	MAZ	chr15:41849715-41852326	IMR90	lung:	n/a	n/a
3	CTCF	chr15:41850600-41850750	HEEpiC	esophagus:	n/a	n/a
4	MXI1	chr15:41850509-41850696	K562	blood:	n/a	n/a
5	SMC3	chr15:41850582-41851297	Hela-S3	cervix:	n/a	n/a
6	MAX	chr15:41849938-41850875	H1-hESC	embryonic stem cell:	n/a	chr15:41850240-41850250
7	MAX	chr15:41849732-41850815	A549	lung:	n/a	chr15:41850240-41850250
8	CTCF	chr15:41850580-41850730	HPF	lung:	n/a	n/a
9	SIN3A	chr15:41849836-41852455	H1-hESC	embryonic stem cell:	n/a	chr15:41852090-41852104 chr15:41852327-41852340
10	POLR2A	chr15:41849871-41850635	H1-hESC	embryonic stem cell:	n/a	n/a
11	BRCA1	chr15:41850474-41850680	Hela-S3	cervix:	n/a	n/a
12	TAF1	chr15:41850582-41851345	H1-hESC	embryonic stem cell:	n/a	n/a
13	CEBPB	chr15:41850270-41850711	Hela-S3	cervix:	n/a	n/a
14	MAZ	chr15:41850471-41850941	GM12878	blood:	n/a	n/a
15	MXI1	chr15:41849704-41852502	IMR90	lung:	n/a	chr15:41851314-41851329
16	CTCF	chr15:41850600-41850750	HVMF	connective:	n/a	n/a
17	MXI1	chr15:41849639-41852553	SK-N-SH	brain:	n/a	chr15:41851314-41851329
18	YY1	chr15:41850486-41851040	H1-hESC	embryonic stem cell:	n/a	n/a
19	CTCF	chr15:41849563-41851582	SK-N-SH	brain:	n/a	chr15:41849950-41849966 chr15:41850174-41850192 chr15:41850060-41850073 chr15:41849949-41849962 chr15:41849949-41849967 chr15:41849962-41849975 chr15:41851122-41851135 chr15:41849952-41849965 chr15:41850180-41850189 chr15:41851159-41851172
20	CTCF	chr15:41850480-41850630	AG09319	gingival:	n/a	n/a
21	RCOR1	chr15:41850587-41851476	K562	blood:	n/a	n/a
22	CTCF	chr15:41850500-41850770	AoAF	blood vessel:	n/a	n/a
23	CTCF	chr15:41850540-41850810	K562	blood:	n/a	n/a
24	MAFK	chr15:41850570-41850765	Hela-S3	cervix:	n/a	n/a
25	ZKSCAN1	chr15:41849906-41850782	Hela-S3	cervix:	n/a	n/a
26	CTCF	chr15:41850560-41850710	BJ	skin:	n/a	n/a
27	POLR2A	chr15:41850587-41850846	H1-hESC	embryonic stem cell:	n/a	n/a
28	RCOR1	chr15:41850506-41850702	K562	blood:	n/a	n/a
29	CTCF	chr15:41850580-41850730	AG09309	skin:	n/a	n/a
30	MAX	chr15:41849821-41850654	ECC-1	luminal epithelium:	n/a	chr15:41850240-41850250
31	SMC3	chr15:41849360-41850721	SK-N-SH	brain:	n/a	chr15:41849962-41849976 chr15:41849955-41849965 chr15:41849951-41849965 chr15:41849962-41849972
32	MXI1	chr15:41849902-41850635	H1-hESC	embryonic stem cell:	n/a	n/a
33	CTCF	chr15:41850600-41850750	NHDF-neo	bronchial:	n/a	n/a
34	RAD21	chr15:41849653-41851660	SK-N-SH	brain:	n/a	chr15:41849962-41849976 chr15:41849953-41849966 chr15:41850172-41850191 chr15:41849961-41849974 chr15:41850059-41850072 chr15:41849955-41849965
35	CTCF	chr15:41849726-41851378	A549	lung:	n/a	chr15:41849950-41849966 chr15:41850174-41850192 chr15:41850060-41850073 chr15:41849949-41849962 chr15:41849949-41849967 chr15:41849962-41849975 chr15:41851122-41851135 chr15:41849952-41849965 chr15:41850180-41850189 chr15:41851159-41851172
36	RCOR1	chr15:41850574-41851152	Hela-S3	cervix:	n/a	n/a

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

Variant related genes	Relation type
TYRO3	TF binding region
ENSG00000092445	Chromatin interaction
ENSG00000260926	Chromatin interaction
ENSG00000137825	Chromatin interaction
ENSG00000174197	Chromatin interaction
ENSG00000103932	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs57922070	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60774614	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61553785	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391113	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391126	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391132	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391133	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73391143	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73403182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73407244	1.00[AMR][1000 genomes]
rs73409149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:41849800-41851000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr15:41849800-41851000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr15:41850000-41850800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr15:41850000-41850800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
5	chr15:41850000-41850800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr15:41850000-41850800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
7	chr15:41850000-41850800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
8	chr15:41850000-41850800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr15:41850000-41850800	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
10	chr15:41850000-41850800	Flanking Active TSS	Brain Anterior Caudate	brain
11	chr15:41850000-41850800	Flanking Active TSS	Brain Cingulate Gyrus	brain
12	chr15:41850000-41850800	Flanking Active TSS	Duodenum Mucosa	Duodenum
13	chr15:41850000-41850800	Bivalent Enhancer	Fetal Thymus	thymus
14	chr15:41850000-41850800	Enhancers	Lung	lung
15	chr15:41850000-41850800	Enhancers	Pancreas	Pancrea
16	chr15:41850000-41850800	Flanking Active TSS	A549	lung
17	chr15:41850000-41851000	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr15:41850000-41851000	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr15:41850000-41851000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr15:41850000-41851000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr15:41850000-41851000	Flanking Active TSS	Primary T cells from cord blood	blood
22	chr15:41850000-41851000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
23	chr15:41850000-41851000	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
24	chr15:41850000-41851000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
25	chr15:41850000-41851000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
26	chr15:41850000-41851000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
27	chr15:41850000-41851000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
28	chr15:41850000-41851000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr15:41850000-41851000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr15:41850000-41851000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr15:41850000-41851000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
32	chr15:41850000-41851000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr15:41850000-41851000	Flanking Active TSS	Adipose Nuclei	Adipose
34	chr15:41850000-41851000	Flanking Active TSS	Brain Hippocampus Middle	brain
35	chr15:41850000-41851000	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
36	chr15:41850000-41851000	Flanking Active TSS	Fetal Lung	lung
37	chr15:41850000-41851000	Enhancers	Gastric	stomach
38	chr15:41850000-41851000	Enhancers	Placenta Amnion	Placenta Amnion
39	chr15:41850000-41851000	Enhancers	Small Intestine	intestine
40	chr15:41850000-41851000	Enhancers	Stomach Mucosa	stomach
41	chr15:41850000-41851000	Flanking Active TSS	Stomach Smooth Muscle	stomach
42	chr15:41850000-41851000	Enhancers	Spleen	Spleen
43	chr15:41850000-41851000	Flanking Active TSS	Dnd41	blood
44	chr15:41850000-41851000	Flanking Active TSS	Hela-S3	cervix
45	chr15:41850000-41852200	Enhancers	Liver	Liver
46	chr15:41850000-41853000	Enhancers	Fetal Heart	heart
47	chr15:41850200-41850800	Flanking Active TSS	H1 Cell Line	embryonic stem cell
48	chr15:41850200-41850800	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
49	chr15:41850200-41850800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr15:41850200-41850800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain

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