Variant report

Variant	rs73931486
Chromosome Location	chr19:41933889-41933890
allele	G/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	PML	chr19:41933844-41934143	K562	blood:	n/a	n/a
2	POLR2A	chr19:41932860-41934073	HUVEC	blood vessel:	n/a	n/a
3	GATA3	chr19:41933592-41934321	MCF-7	breast:	n/a	chr19:41933964-41933972 chr19:41934107-41934117
4	POLR2A	chr19:41932746-41935432	SK-N-MC	brain:	n/a	n/a
5	MYC	chr19:41933723-41934177	K562	blood:	n/a	n/a
6	MTA3	chr19:41933477-41934574	GM12878	blood:	n/a	n/a
7	CEBPD	chr19:41933727-41934155	K562	blood:	n/a	n/a
8	IRF1	chr19:41933857-41933952	K562	blood:	n/a	n/a
9	SIN3A	chr19:41932891-41934257	H1-hESC	embryonic stem cell:	n/a	n/a
10	GATA3	chr19:41933752-41934301	MCF-7	breast:	n/a	chr19:41933964-41933972 chr19:41934107-41934117
11	JUND	chr19:41933820-41934077	K562	blood:	n/a	n/a
12	MYC	chr19:41933806-41934141	K562	blood:	n/a	n/a
13	ELF1	chr19:41933815-41934209	K562	blood:	n/a	n/a
14	MAX	chr19:41933823-41934112	K562	blood:	n/a	n/a
15	MAZ	chr19:41932882-41934535	K562	blood:	n/a	n/a
16	TBL1XR1	chr19:41933879-41934373	K562	blood:	n/a	n/a
17	POLR2A	chr19:41933025-41934078	K562	blood:	n/a	n/a
18	POLR2A	chr19:41933567-41934021	H1-hESC	embryonic stem cell:	n/a	n/a
19	MAFK	chr19:41933673-41934063	K562	blood:	n/a	chr19:41933698-41933709 chr19:41933698-41933709 chr19:41933699-41933710
20	POLR2A	chr19:41930208-41935047	K562	blood:	n/a	n/a
21	UBTF	chr19:41933817-41934108	K562	blood:	n/a	n/a
22	MAZ	chr19:41932751-41934077	IMR90	lung:	n/a	n/a
23	MAX	chr19:41933049-41934199	K562	blood:	n/a	n/a
24	EP300	chr19:41933802-41934101	K562	blood:	n/a	n/a
25	MXI1	chr19:41933867-41934062	GM12878	blood:	n/a	n/a
26	POLR2A	chr19:41932961-41934153	GM12878	blood:	n/a	n/a
27	ELF1	chr19:41933598-41934480	GM12878	blood:	n/a	n/a
28	GATA2	chr19:41933682-41934273	SH-SY5Y	brain:	n/a	chr19:41934107-41934117
29	POLR2A	chr19:41933342-41934694	GM12878	blood:	n/a	n/a
30	GATA3	chr19:41933811-41934253	SK-N-SH	brain:	n/a	chr19:41933964-41933972 chr19:41934107-41934117
31	POLR2A	chr19:41932587-41934623	K562	blood:	n/a	n/a
32	E2F6	chr19:41933822-41934069	K562	blood:	n/a	n/a
33	POLR2A	chr19:41932725-41934292	HL-60	blood:	n/a	n/a
34	MAX	chr19:41933862-41934098	K562	blood:	n/a	n/a
35	RCOR1	chr19:41933745-41933931	K562	blood:	n/a	n/a
36	POLR2A	chr19:41933728-41934131	K562	blood:	n/a	n/a
37	RUNX3	chr19:41933780-41934066	GM12878	blood:	n/a	n/a
38	POLR2A	chr19:41932747-41934074	HepG2	liver:	n/a	n/a
39	POLR2A	chr19:41929835-41934317	HL-60	blood:	n/a	n/a
40	STAT5A	chr19:41933842-41934435	GM12878	blood:	n/a	chr19:41934352-41934364 chr19:41934297-41934309 chr19:41934296-41934308
41	SPI1	chr19:41933860-41934054	K562	blood:	n/a	n/a
42	PML	chr19:41933517-41934107	GM12878	blood:	n/a	n/a
43	SPI1	chr19:41933642-41934197	HL-60	blood:	n/a	n/a
44	GATA2	chr19:41933759-41934166	K562	blood:	n/a	chr19:41934107-41934117
45	POLR2A	chr19:41933732-41934005	H1-hESC	embryonic stem cell:	n/a	n/a
46	GATA3	chr19:41933836-41934142	SH-SY5Y	brain:	n/a	chr19:41933964-41933972 chr19:41934107-41934117
47	CTCF	chr19:41933740-41933890	HCM	heart:	n/a	n/a
48	POLR2A	chr19:41932681-41934061	K562	blood:	n/a	n/a
49	GATA1	chr19:41933609-41934319	PBDE	blood:	n/a	chr19:41934107-41934117
50	POLR2A	chr19:41933874-41933899	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:41859535..41862336-chr19:41931235..41934067,2	MCF-7	breast:
2	chr19:41921214..41925672-chr19:41932377..41935763,4	MCF-7	breast:
3	chr19:41933534..41935688-chr19:42105256..42107275,2	K562	blood:
4	chr19:41913241..41916784-chr19:41931234..41935699,5	MCF-7	breast:
5	chr19:41932975..41939032-chr19:41942824..41947362,11	K562	blood:
6	chr19:41901991..41905119-chr19:41933008..41936084,3	MCF-7	breast:
7	chr19:41902636..41905103-chr19:41930716..41934044,4	MCF-7	breast:
8	chr19:41847615..41849220-chr19:41932649..41934525,2	MCF-7	breast:
9	chr19:41931962..41935414-chr19:41944317..41947167,6	MCF-7	breast:

Variant related genes	Relation type
B3GNT8	TF binding region
ENSG00000077348	Chromatin interaction
ENSG00000239736	Chromatin interaction
ENSG00000105341	Chromatin interaction
ENSG00000248098	Chromatin interaction
ENSG00000105329	Chromatin interaction
ENSG00000142046	Chromatin interaction

rs_ID	r²[population]
rs58959515	1.00[AFR][1000 genomes]
rs60715253	1.00[AFR][1000 genomes]
rs73931484	0.91[AFR][1000 genomes]
rs73931485	0.91[AFR][1000 genomes]
rs73931488	1.00[AFR][1000 genomes]
rs73931491	0.91[AFR][1000 genomes]

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41932000-41935600	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
2	chr19:41932200-41934200	Active TSS	Fetal Intestine Large	intestine
3	chr19:41932200-41934800	Flanking Active TSS	Stomach Smooth Muscle	stomach
4	chr19:41932400-41934200	Active TSS	Small Intestine	intestine
5	chr19:41932400-41934600	Flanking Active TSS	HMEC	breast
6	chr19:41932400-41935000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr19:41932400-41935200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr19:41932400-41936400	Weak transcription	Dnd41	blood
9	chr19:41932600-41934200	Active TSS	Fetal Intestine Small	intestine
10	chr19:41932600-41934400	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
11	chr19:41932600-41934400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr19:41932600-41934400	Flanking Active TSS	Adipose Nuclei	Adipose
13	chr19:41932600-41934400	Active TSS	Pancreatic Islets	Pancreatic Islet
14	chr19:41932600-41936800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr19:41932800-41934000	Active TSS	Brain Germinal Matrix	brain
16	chr19:41932800-41934000	Active TSS	Esophagus	oesophagus
17	chr19:41932800-41934000	Flanking Active TSS	Fetal Muscle Trunk	muscle
18	chr19:41932800-41934200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr19:41932800-41934200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr19:41932800-41934200	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
21	chr19:41932800-41934200	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr19:41932800-41934200	Enhancers	Spleen	Spleen
23	chr19:41932800-41934400	Active TSS	Aorta	Aorta
24	chr19:41932800-41934400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
25	chr19:41932800-41934400	Active TSS	Pancreas	Pancrea
26	chr19:41932800-41934600	Active TSS	H9 Cell Line	embryonic stem cell
27	chr19:41932800-41934600	Enhancers	Primary B cells from peripheral blood	blood
28	chr19:41932800-41934600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
29	chr19:41932800-41934600	Enhancers	NH-A	brain
30	chr19:41933000-41934400	Active TSS	ES-I3 Cell Line	embryonic stem cell
31	chr19:41933000-41934400	Active TSS	iPS-20b Cell Line	embryonic stem cell
32	chr19:41933000-41934400	Flanking Active TSS	Fetal Stomach	stomach
33	chr19:41933000-41934600	Active TSS	HUES64 Cell Line	embryonic stem cell
34	chr19:41933000-41934600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
35	chr19:41933000-41934600	Enhancers	Fetal Brain Male	brain
36	chr19:41933000-41934800	Weak transcription	Brain Substantia Nigra	brain
37	chr19:41933200-41934000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr19:41933200-41934000	Active TSS	Brain Cingulate Gyrus	brain
39	chr19:41933200-41934000	Active TSS	Brain Inferior Temporal Lobe	brain
40	chr19:41933200-41934200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr19:41933200-41934400	Active TSS	HUES48 Cell Line	embryonic stem cell
42	chr19:41933200-41934400	Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr19:41933200-41934400	Active TSS	iPS-15b Cell Line	embryonic stem cell
44	chr19:41933200-41934400	Active TSS	Fetal Brain Female	brain
45	chr19:41933200-41934400	Active TSS	Rectal Smooth Muscle	rectum
46	chr19:41933200-41934600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr19:41933200-41934600	Active TSS	iPS-18 Cell Line	embryonic stem cell
48	chr19:41933200-41938200	Weak transcription	Fetal Kidney	kidney
49	chr19:41933400-41934000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr19:41933400-41934200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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