Variant report

Variant	rs73931484
Chromosome Location	chr19:41931073-41931074
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:31)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:31 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CEBPB	chr19:41930782-41931298	A549	lung:	n/a	n/a
2	FOXA2	chr19:41930841-41931104	HepG2	liver:	n/a	n/a
3	GABPA	chr19:41930761-41931318	HL-60	blood:	n/a	n/a
4	CEBPB	chr19:41930854-41931209	HepG2	liver:	n/a	n/a
5	CEBPD	chr19:41930896-41931200	HepG2	liver:	n/a	n/a
6	GABPA	chr19:41930627-41931360	HL-60	blood:	n/a	n/a
7	CEBPB	chr19:41930940-41931089	HepG2	liver:	n/a	n/a
8	CEBPB	chr19:41930875-41931111	HepG2	liver:	n/a	n/a
9	GABPA	chr19:41930925-41931080	HepG2	liver:	n/a	n/a
10	POLR2A	chr19:41930813-41931535	K562	blood:	n/a	n/a
11	CEBPB	chr19:41930858-41931207	HepG2	liver:	n/a	n/a
12	FOXA1	chr19:41930766-41931174	HepG2	liver:	n/a	n/a
13	EP300	chr19:41930793-41931106	HepG2	liver:	n/a	n/a
14	CEBPB	chr19:41930809-41931149	MCF-7	breast:	n/a	n/a
15	POLR2A	chr19:41930208-41935047	K562	blood:	n/a	n/a
16	CEBPB	chr19:41930893-41931103	A549	lung:	n/a	n/a
17	EP300	chr19:41930733-41931167	HepG2	liver:	n/a	n/a
18	FOXA1	chr19:41930838-41931194	HepG2	liver:	n/a	n/a
19	CEBPB	chr19:41930838-41931217	K562	blood:	n/a	n/a
20	POLR2A	chr19:41930803-41932724	HL-60	blood:	n/a	n/a
21	FOXA1	chr19:41930716-41931129	HepG2	liver:	n/a	n/a
22	CEBPB	chr19:41930810-41931186	K562	blood:	n/a	n/a
23	RXRA	chr19:41930849-41931116	HepG2	liver:	n/a	n/a
24	RCOR1	chr19:41930929-41931192	K562	blood:	n/a	n/a
25	POLR2A	chr19:41929835-41934317	HL-60	blood:	n/a	n/a
26	POLR2A	chr19:41931070-41931225	H1-hESC	embryonic stem cell:	n/a	n/a
27	POLR2A	chr19:41931011-41931199	HepG2	liver:	n/a	n/a
28	CEBPB	chr19:41930804-41931229	A549	lung:	n/a	n/a
29	CEBPB	chr19:41930877-41931082	K562	blood:	n/a	n/a
30	CEBPB	chr19:41930963-41931163	IMR90	lung:	n/a	n/a
31	FOXA1	chr19:41930850-41931128	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:41928996..41931842-chr19:41934329..41936851,2	MCF-7	breast:
2	chr19:41855338..41857886-chr19:41930107..41932844,2	K562	blood:
3	chr19:41915352..41917525-chr19:41928842..41931188,2	MCF-7	breast:
4	chr19:41902636..41905103-chr19:41930716..41934044,4	MCF-7	breast:
5	chr19:41930070..41932098-chr19:41944342..41947114,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000268475	TF binding region
ENSG00000142046	Chromatin interaction
ENSG00000105341	Chromatin interaction
ENSG00000255730	Chromatin interaction
ENSG00000248098	Chromatin interaction
ENSG00000177191	Chromatin interaction
ENSG00000077348	Chromatin interaction

rs_ID	r²[population]
rs55786333	1.00[AMR][1000 genomes]
rs58959515	0.91[AFR][1000 genomes]
rs60715253	0.91[AFR][1000 genomes]
rs73931485	0.83[AFR][1000 genomes]
rs73931486	0.91[AFR][1000 genomes]
rs73931488	0.91[AFR][1000 genomes]
rs73931491	0.84[AFR][1000 genomes]
rs73933647	1.00[AMR][1000 genomes]

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41913800-41932600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
2	chr19:41915200-41932600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:41915400-41932800	Weak transcription	Hela-S3	cervix
4	chr19:41915600-41932800	Weak transcription	NH-A	brain
5	chr19:41916000-41932000	Strong transcription	Fetal Stomach	stomach
6	chr19:41916000-41932400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr19:41916200-41932000	Weak transcription	HUVEC	blood vessel
8	chr19:41916400-41931600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr19:41916400-41932000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
10	chr19:41916400-41932600	Strong transcription	Primary B cells from peripheral blood	blood
11	chr19:41916400-41932800	Strong transcription	Brain Germinal Matrix	brain
12	chr19:41916400-41932800	Strong transcription	Fetal Brain Female	brain
13	chr19:41916400-41933000	Strong transcription	Thymus	Thymus
14	chr19:41916600-41931200	Strong transcription	Rectal Smooth Muscle	rectum
15	chr19:41916600-41931400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr19:41916800-41932200	Strong transcription	Primary T cells from cord blood	blood
17	chr19:41916800-41932200	Strong transcription	Ovary	ovary
18	chr19:41917000-41932000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr19:41918200-41932000	Weak transcription	NHEK	skin
20	chr19:41918200-41932200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
21	chr19:41918200-41932400	Weak transcription	Right Atrium	heart
22	chr19:41918200-41932800	Strong transcription	Brain Hippocampus Middle	brain
23	chr19:41918400-41932800	Strong transcription	Brain Cingulate Gyrus	brain
24	chr19:41918600-41932400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
25	chr19:41918600-41932800	Strong transcription	Brain Angular Gyrus	brain
26	chr19:41918800-41931600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr19:41918800-41932600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr19:41918800-41932800	Strong transcription	Brain Inferior Temporal Lobe	brain
29	chr19:41919000-41931600	Strong transcription	Primary T helper cells PMA-I stimulated	--
30	chr19:41919200-41931800	Strong transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:41919800-41931400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr19:41921200-41933000	Weak transcription	Muscle Satellite Cultured Cells	--
33	chr19:41921400-41932000	Strong transcription	Fetal Muscle Trunk	muscle
34	chr19:41921400-41932200	Weak transcription	NHDF-Ad	bronchial
35	chr19:41924200-41931400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr19:41924200-41931400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
37	chr19:41924200-41932000	Strong transcription	Placenta Amnion	Placenta Amnion
38	chr19:41924400-41931600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr19:41924400-41931800	Strong transcription	HUES6 Cell Line	embryonic stem cell
40	chr19:41924400-41932000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr19:41924400-41932400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:41924600-41933000	Strong transcription	Brain Substantia Nigra	brain
43	chr19:41924800-41932400	Strong transcription	Dnd41	blood
44	chr19:41924800-41933000	Strong transcription	A549	lung
45	chr19:41925600-41933400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr19:41926600-41932800	Weak transcription	Fetal Kidney	kidney
47	chr19:41926600-41932800	Genic enhancers	Spleen	Spleen
48	chr19:41926600-41933000	Weak transcription	Fetal Brain Male	brain
49	chr19:41926800-41932600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr19:41927000-41932200	Weak transcription	HMEC	breast

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