Variant report

Variant	rs10037569
Chromosome Location	chr5:115910439-115910440
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	chr5:115910399-115910463	Fibrobl	skin:	n/a	n/a
2	TAF1	chr5:115910358-115910679	GM12891	blood:	n/a	n/a
3	EP300	chr5:115910406-115910751	GM12878	blood:	n/a	chr5:115910536-115910552 chr5:115910535-115910551
4	RUNX3	chr5:115910294-115911315	GM12878	blood:	n/a	n/a
5	POLR2A	chr5:115910305-115910849	GM12892	blood:	n/a	n/a
6	JUND	chr5:115910400-115910803	A549	lung:	n/a	chr5:115910554-115910568
7	CEBPB	chr5:115910354-115910822	MCF-7	breast:	n/a	n/a
8	ZNF143	chr5:115910382-115910821	H1-hESC	embryonic stem cell:	n/a	n/a
9	MYC	chr5:115910414-115910717	MCF-7	breast:	n/a	n/a
10	EP300	chr5:115910180-115910791	SK-N-SH	brain:	n/a	chr5:115910340-115910356 chr5:115910536-115910552 chr5:115910535-115910551
11	SP1	chr5:115910152-115911109	HCT-116	colon:	n/a	chr5:115910285-115910297 chr5:115910287-115910296 chr5:115910285-115910297 chr5:115910282-115910296 chr5:115910287-115910296 chr5:115910671-115910682 chr5:115910820-115910830 chr5:115910286-115910296 chr5:115910821-115910830 chr5:115910286-115910296 chr5:115910286-115910295 chr5:115910293-115910307
12	EP300	chr5:115910316-115910860	T-47D	breast:	n/a	chr5:115910340-115910356 chr5:115910536-115910552 chr5:115910535-115910551
13	TAF1	chr5:115910207-115910919	H1-hESC	embryonic stem cell:	n/a	n/a
14	BRCA1	chr5:115910436-115910762	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr5:115910286-115910861	HEK293	kidney:	n/a	n/a
16	EP300	chr5:115910246-115910993	ECC-1	luminal epithelium:	n/a	chr5:115910855-115910869 chr5:115910340-115910356 chr5:115910536-115910552 chr5:115910535-115910551 chr5:115910849-115910863 chr5:115910851-115910865 chr5:115910854-115910868
17	TBP	chr5:115910295-115912307	H1-hESC	embryonic stem cell:	n/a	n/a
18	RAD21	chr5:115910291-115910798	ECC-1	luminal epithelium:	n/a	n/a
19	TEAD4	chr5:115910331-115910901	ECC-1	luminal epithelium:	n/a	n/a
20	EP300	chr5:115910399-115910719	SK-N-SH_RA	brain:	n/a	chr5:115910536-115910552 chr5:115910535-115910551
21	MTA3	chr5:115910330-115911850	GM12878	blood:	n/a	n/a
22	SIN3AK20	chr5:115910370-115910715	H1-hESC	embryonic stem cell:	n/a	n/a
23	CTBP2	chr5:115907926-115910875	H1-hESC	embryonic stem cell:	n/a	n/a
24	STAT1	chr5:115910367-115910817	GM12878	blood:	n/a	n/a
25	TAF1	chr5:115910359-115910615	SK-N-SH	brain:	n/a	n/a
26	GABPA	chr5:115910377-115910829	MCF-7	breast:	n/a	n/a
27	PML	chr5:115910309-115911001	GM12878	blood:	n/a	n/a
28	NFIC	chr5:115910387-115910815	GM12878	blood:	n/a	n/a
29	MYC	chr5:115910267-115910844	MCF-7	breast:	n/a	chr5:115910279-115910289
30	POLR2A	chr5:115910303-115910662	HepG2	liver:	n/a	n/a
31	POLR2A	chr5:115910283-115910811	MCF-7	breast:	n/a	n/a
32	POLR2A	chr5:115910278-115910883	GM12878	blood:	n/a	n/a
33	POLR2A	chr5:115910304-115910872	H1-hESC	embryonic stem cell:	n/a	n/a
34	TCF12	chr5:115910360-115910767	GM12878	blood:	n/a	chr5:115910749-115910757
35	PML	chr5:115910430-115910690	GM12878	blood:	n/a	n/a
36	BCL11A	chr5:115910362-115910711	GM12878	blood:	n/a	chr5:115910534-115910547 chr5:115910531-115910544
37	POLR2A	chr5:115910281-115910840	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr5:115910338-115910650	HepG2	liver:	n/a	n/a
39	SIN3A	chr5:115910402-115910722	GM12878	blood:	n/a	n/a
40	MAX	chr5:115910312-115911013	HCT-116	colon:	n/a	n/a
41	BRCA1	chr5:115910408-115910705	GM12878	blood:	n/a	n/a
42	EGR1	chr5:115910361-115911044	ECC-1	luminal epithelium:	n/a	chr5:115910668-115910682 chr5:115910784-115910793 chr5:115910784-115910794 chr5:115910595-115910609 chr5:115910822-115910835
43	TAF1	chr5:115910295-115910889	H1-hESC	embryonic stem cell:	n/a	n/a
44	FOXA2	chr5:115910334-115910697	A549	lung:	n/a	n/a
45	CTCF	chr5:115910352-115910824	MCF-7	breast:	n/a	n/a
46	TAF1	chr5:115910282-115910661	HepG2	liver:	n/a	n/a
47	TAF1	chr5:115910309-115910710	GM12878	blood:	n/a	n/a
48	TCF7L2	chr5:115910306-115910828	HCT-116	colon:	n/a	n/a
49	POLR2A	chr5:115910286-115910887	GM19099	blood:	n/a	n/a
50	USF2	chr5:115910399-115910690	H1-hESC	embryonic stem cell:	n/a	n/a

Variant related genes	Relation type
SEMA6A	TF binding region

rs_ID	r²[population]
rs10061468	1.00[EUR][1000 genomes]
rs10073342	1.00[EUR][1000 genomes]
rs12332586	1.00[EUR][1000 genomes]
rs13355107	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13355323	1.00[EUR][1000 genomes]
rs13362514	1.00[EUR][1000 genomes]
rs17140058	1.00[EUR][1000 genomes]
rs17140180	1.00[EUR][1000 genomes]
rs28677890	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4379240	1.00[EUR][1000 genomes]
rs58841498	1.00[EUR][1000 genomes]
rs60190258	1.00[EUR][1000 genomes]
rs640121	1.00[EUR][1000 genomes]
rs6864548	1.00[EUR][1000 genomes]
rs6897908	1.00[EUR][1000 genomes]
rs73256769	1.00[EUR][1000 genomes]
rs73780329	1.00[EUR][1000 genomes]
rs73780382	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7711834	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7718743	1.00[EUR][1000 genomes]

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:115906000-115912400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr5:115906400-115912200	Active TSS	H1 Cell Line	embryonic stem cell
3	chr5:115906400-115912400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
4	chr5:115906800-115912600	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr5:115906800-115912800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr5:115907000-115912200	Active TSS	Fetal Intestine Large	intestine
7	chr5:115907000-115912400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr5:115907200-115912200	Active TSS	HUES48 Cell Line	embryonic stem cell
9	chr5:115907200-115912600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr5:115907200-115912600	Active TSS	Pancreatic Islets	Pancreatic Islet
11	chr5:115907400-115911400	Active TSS	Colon Smooth Muscle	Colon
12	chr5:115907400-115911400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr5:115907400-115912200	Active TSS	Fetal Intestine Small	intestine
14	chr5:115907400-115912400	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr5:115907400-115912600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr5:115907400-115912600	Active TSS	Brain Angular Gyrus	brain
17	chr5:115907600-115910600	Bivalent/Poised TSS	Sigmoid Colon	Sigmoid Colon
18	chr5:115907600-115912000	Flanking Active TSS	Primary hematopoietic stem cells	blood
19	chr5:115907600-115912400	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr5:115907600-115912400	Active TSS	Ovary	ovary
21	chr5:115907600-115912600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:115907600-115912600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr5:115907600-115912600	Active TSS	Brain Anterior Caudate	brain
24	chr5:115907600-115912600	Active TSS	Brain Cingulate Gyrus	brain
25	chr5:115907600-115912600	Active TSS	Brain Substantia Nigra	brain
26	chr5:115907800-115912600	Active TSS	Fetal Kidney	kidney
27	chr5:115908000-115910600	Active TSS	Fetal Brain Male	brain
28	chr5:115908000-115911000	Active TSS	Fetal Lung	lung
29	chr5:115908000-115911200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:115908000-115912400	Active TSS	HUES64 Cell Line	embryonic stem cell
31	chr5:115908000-115912400	Bivalent/Poised TSS	Thymus	Thymus
32	chr5:115908000-115912600	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr5:115908200-115912400	Active TSS	iPS-20b Cell Line	embryonic stem cell
34	chr5:115908200-115912400	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr5:115908200-115912800	Active TSS	ES-I3 Cell Line	embryonic stem cell
36	chr5:115908400-115912000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
37	chr5:115908400-115912400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
38	chr5:115908400-115912400	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
39	chr5:115908400-115912600	Active TSS	H9 Cell Line	embryonic stem cell
40	chr5:115908600-115910600	Bivalent/Poised TSS	Brain Germinal Matrix	brain
41	chr5:115908600-115911400	Active TSS	Left Ventricle	heart
42	chr5:115908600-115911600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
43	chr5:115908600-115911800	Active TSS	Aorta	Aorta
44	chr5:115909000-115910800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr5:115909000-115911400	Active TSS	Brain Hippocampus Middle	brain
46	chr5:115909000-115912400	Active TSS	Stomach Smooth Muscle	stomach
47	chr5:115909200-115910800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
48	chr5:115909200-115911600	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:115909200-115912600	Active TSS	Right Atrium	heart
50	chr5:115909400-115910600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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