Variant report

Variant	rs73048915
Chromosome Location	chr19:41319791-41319792
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:3 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:41319683-41320221	K562	blood:	n/a	n/a
2	POLR2A	chr19:41319655-41320018	MCF10A-Er-Src	breast:	n/a	n/a
3	POLR2A	chr19:41319557-41320196	HepG2	liver:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr19:41319790-41319840	ovcar-3	ovarian:	n/a
2	chr19:41319790-41319840	H1-hESC	embryonic stem cell:	embryo
3	chr19:41319790-41319840	HCM	heart:	n/a
4	chr19:41319790-41319840	NHDF-neo	bronchial:	n/a
5	chr19:41319790-41319840	HIPEpiC	eye:	n/a
6	chr19:41319790-41319840	SK-N-MC	brain:	n/a
7	chr19:41319790-41319840	HL-60	blood:	n/a
8	chr19:41319790-41319840	HCT-116	colon:	n/a
9	chr19:41319790-41319840	AG09309	skin:	n/a
10	chr19:41319790-41319840	HEK293	kidney:	embryo
11	chr19:41319790-41319840	GM12892	blood:	n/a
12	chr19:41319790-41319840	HMEC	breast:	n/a
13	chr19:41319790-41319840	ProgFib	skin:	n/a
14	chr19:41319790-41319840	Hela-S3	cervix:	n/a
15	chr19:41319790-41319840	HNPCEpiC	eye:	n/a
16	chr19:41319790-41319840	SKMC	muscle:	n/a
17	chr19:41319790-41319840	AG04449	skin:	fetal
18	chr19:41319790-41319840	U87	brain:	n/a
19	chr19:41319790-41319840	HRPEpiC	eye:	n/a
20	chr19:41319790-41319840	CMK	blood:	n/a
21	chr19:41319790-41319840	RPTEC	kidney:	n/a
22	chr19:41319790-41319840	NB4	blood:	n/a
23	chr19:41319790-41319840	GM12891	blood:	n/a
24	chr19:41319790-41319840	SAEC	small airway:	n/a
25	chr19:41319790-41319840	PANC-1	pancreas:	n/a
26	chr19:41319790-41319840	MCF10A-Er-Src	breast:	n/a
27	chr19:41319790-41319840	HCPEpiC	choroid plexus:	n/a
28	chr19:41319790-41319840	NHBE	bronchial:	n/a
29	chr19:41319790-41319840	HPAEpiC	pulmonary alveolar:	n/a
30	chr19:41319790-41319840	K562	blood:	n/a
31	chr19:41319790-41319840	GM19239	blood:	n/a
32	chr19:41319790-41319840	NT2-D1	testis:	n/a
33	chr19:41319790-41319840	T-47D	breast:	n/a
34	chr19:41319790-41319840	AG09319	gingival:	n/a
35	chr19:41319790-41319840	SK-N-SH	brain:	n/a
36	chr19:41319790-41319840	A549	lung:	n/a
37	chr19:41319790-41319840	PrEC	prostate:	n/a
38	chr19:41319790-41319840	AG04450	lung:	fetal
39	chr19:41319790-41319840	HAEpiC	amniotic membrane:	n/a
40	chr19:41319790-41319840	AoSMC	blood vessel:	n/a
41	chr19:41319790-41319840	HEEpiC	esophagus:	n/a
42	chr19:41319790-41319840	HRE	kidney:	n/a
43	chr19:41319790-41319840	BE2_C	brain:	n/a
44	chr19:41319790-41319840	ECC-1	luminal epithelium:	n/a
45	chr19:41319790-41319840	AG10803	skin:	n/a
46	chr19:41319790-41319840	HCF	heart:	n/a
47	chr19:41319790-41319840	HepG2	liver:	n/a
48	chr19:41319790-41319840	PFSK-1	brain:	n/a
49	chr19:41319790-41319840	Hepatocyte	liver:	n/a
50	chr19:41319790-41319840	NH-A	brain:	n/a

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:41307688..41310230-chr19:41318329..41321323,2	MCF-7	breast:
2	chr19:41304267..41305951-chr19:41317494..41319797,2	MCF-7	breast:

No data

Variant related genes	Relation type
CYP2T2P	TF binding region
CYP2T2P	CpG island
ENSG00000269858	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11665867	1.00[ASN][1000 genomes]
rs11665953	1.00[ASN][1000 genomes]
rs11666504	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11667931	1.00[ASN][1000 genomes]
rs11668042	1.00[ASN][1000 genomes]
rs11672227	1.00[ASN][1000 genomes]
rs2077407	1.00[ASN][1000 genomes]
rs36012476	1.00[ASN][1000 genomes]
rs4435368	1.00[ASN][1000 genomes]
rs4624303	1.00[ASN][1000 genomes]
rs55652103	1.00[ASN][1000 genomes]
rs55723406	1.00[ASN][1000 genomes]
rs55856492	1.00[ASN][1000 genomes]
rs56041558	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56140728	1.00[ASN][1000 genomes]
rs7258772	1.00[ASN][1000 genomes]
rs7259121	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73047051	1.00[ASN][1000 genomes]
rs73047068	1.00[ASN][1000 genomes]
rs73047073	1.00[ASN][1000 genomes]
rs73047085	0.82[AFR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73047100	0.82[AFR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73048925	0.92[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833832	chr19:41260363-41334597	Strong transcription Genic enhancers Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	esv2758500	chr19:41291627-41546068	Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	esv2758762	chr19:41291627-41546068	Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1066637	chr19:41309211-41597896	Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
5	nsv521459	chr19:41313202-41333284	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41315000-41324400	Weak transcription	HepG2	liver
2	chr19:41315000-41332600	Weak transcription	Aorta	Aorta
3	chr19:41316000-41319800	Enhancers	Fetal Heart	heart
4	chr19:41316200-41324400	Weak transcription	Gastric	stomach
5	chr19:41316400-41325400	Weak transcription	Dnd41	blood
6	chr19:41317200-41320800	Enhancers	Cortex derived primary cultured neurospheres	brain
7	chr19:41317400-41319800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr19:41317400-41320200	Enhancers	Placenta	Placenta
9	chr19:41317400-41320400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr19:41317600-41320400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:41317600-41324000	Weak transcription	Hela-S3	cervix
12	chr19:41317600-41324400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:41317800-41320000	Enhancers	Brain Substantia Nigra	brain
14	chr19:41317800-41324200	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr19:41317800-41324400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr19:41317800-41324400	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr19:41318000-41324400	Weak transcription	Pancreas	Pancrea
18	chr19:41318000-41324400	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr19:41318000-41324400	Weak transcription	Right Atrium	heart
20	chr19:41318200-41319800	Enhancers	Colon Smooth Muscle	Colon
21	chr19:41318200-41319800	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
22	chr19:41318200-41319800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
23	chr19:41318200-41319800	Enhancers	Ovary	ovary
24	chr19:41318200-41320000	Enhancers	Fetal Kidney	kidney
25	chr19:41318200-41320000	Enhancers	Rectal Smooth Muscle	rectum
26	chr19:41318200-41320200	Enhancers	Duodenum Smooth Muscle	Duodenum
27	chr19:41318200-41320200	Weak transcription	A549	lung
28	chr19:41318200-41320400	Enhancers	Fetal Stomach	stomach
29	chr19:41318200-41323600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr19:41318200-41323800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr19:41318200-41324400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr19:41318400-41319800	Enhancers	Fetal Lung	lung
33	chr19:41318400-41319800	Enhancers	Fetal Muscle Leg	muscle
34	chr19:41318400-41320000	Enhancers	Brain Hippocampus Middle	brain
35	chr19:41318400-41321200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
36	chr19:41318400-41322800	Weak transcription	Primary T helper cells PMA-I stimulated	--
37	chr19:41318400-41323200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
38	chr19:41318400-41323800	Weak transcription	Primary B cells from cord blood	blood
39	chr19:41318400-41323800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr19:41318400-41323800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
41	chr19:41318600-41323000	Weak transcription	Primary T helper cells fromperipheralblood	blood
42	chr19:41318600-41323800	Weak transcription	Primary T cells fromperipheralblood	blood
43	chr19:41318800-41319800	Enhancers	HMEC	breast
44	chr19:41318800-41322600	Weak transcription	Primary B cells from peripheral blood	blood
45	chr19:41318800-41323800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr19:41318800-41324200	Weak transcription	Fetal Intestine Large	intestine
47	chr19:41318800-41324400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
48	chr19:41319000-41319800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr19:41319000-41319800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr19:41319000-41319800	Enhancers	Brain Cingulate Gyrus	brain

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