Variant report

Variant	rs17112837
Chromosome Location	chr10:99258519-99258520
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	CEBPD	chr10:99258483-99258905	HepG2	liver:	n/a	n/a
2	RUNX3	chr10:99258292-99258885	GM12878	blood:	n/a	n/a
3	ARID3A	chr10:99257446-99258580	HepG2	liver:	n/a	n/a
4	POLR2A	chr10:99258483-99258920	U87	brain:	n/a	n/a
5	ATF3	chr10:99257759-99258622	GM12878	blood:	n/a	chr10:99258244-99258264 chr10:99258238-99258247 chr10:99258410-99258419
6	USF2	chr10:99258060-99258908	H1-hESC	embryonic stem cell:	n/a	chr10:99258255-99258264 chr10:99258254-99258263 chr10:99258255-99258264 chr10:99258253-99258264 chr10:99258256-99258265 chr10:99258253-99258266
7	RAD21	chr10:99257373-99258798	IMR90	lung:	n/a	chr10:99258614-99258624 chr10:99258781-99258791 chr10:99257519-99257533 chr10:99258728-99258738
8	ELF1	chr10:99257380-99258520	MCF-7	breast:	n/a	chr10:99258354-99258363
9	RFX5	chr10:99257427-99258815	Hela-S3	cervix:	n/a	n/a
10	NFYB	chr10:99258138-99258633	Hela-S3	cervix:	n/a	chr10:99258456-99258471
11	MAZ	chr10:99257433-99259409	K562	blood:	n/a	chr10:99258254-99258265 chr10:99258920-99258930 chr10:99258255-99258264 chr10:99259189-99259199 chr10:99258671-99258681 chr10:99259326-99259336
12	NRF1	chr10:99257729-99258646	H1-hESC	embryonic stem cell:	n/a	chr10:99258007-99258016 chr10:99258238-99258247 chr10:99258197-99258208
13	ATF3	chr10:99258405-99258680	H1-hESC	embryonic stem cell:	n/a	chr10:99258670-99258679 chr10:99258410-99258419
14	POLR2A	chr10:99257433-99258866	GM18951	blood:	n/a	n/a
15	POLR2A	chr10:99257272-99258520	GM12878	blood:	n/a	n/a
16	MAX	chr10:99257348-99258696	H1-hESC	embryonic stem cell:	n/a	chr10:99258254-99258265 chr10:99258255-99258264 chr10:99258671-99258681
17	PBX3	chr10:99258267-99258906	A549	lung:	n/a	chr10:99258601-99258610
18	MXI1	chr10:99257451-99258660	K562	blood:	n/a	n/a
19	POLR2A	chr10:99257471-99258931	HEK293	kidney:	n/a	n/a
20	SP1	chr10:99257324-99258857	A549	lung:	n/a	chr10:99258239-99258248 chr10:99258581-99258593 chr10:99258237-99258249 chr10:99258239-99258248 chr10:99258293-99258304 chr10:99258293-99258305 chr10:99258583-99258592 chr10:99258429-99258443 chr10:99258294-99258304 chr10:99258237-99258249 chr10:99258295-99258304 chr10:99258582-99258592 chr10:99258295-99258304 chr10:99258293-99258305 chr10:99258294-99258304 chr10:99258562-99258576 chr10:99258290-99258304 chr10:99258294-99258303 chr10:99258238-99258248 chr10:99258234-99258248 chr10:99258555-99258568 chr10:99258668-99258680 chr10:99258583-99258592 chr10:99258670-99258679 chr10:99258238-99258247 chr10:99258238-99258248 chr10:99258582-99258591
21	NRF1	chr10:99257331-99258604	Hela-S3	cervix:	n/a	chr10:99258007-99258016 chr10:99258238-99258247 chr10:99258197-99258208
22	CTCF	chr10:99258440-99258590	GM12873	blood:	n/a	n/a
23	POLR2A	chr10:99257157-99259066	PFSK-1	brain:	n/a	n/a
24	USF1	chr10:99257520-99258851	SK-N-SH	brain:	n/a	chr10:99258255-99258264 chr10:99258254-99258263 chr10:99258255-99258264 chr10:99257608-99257624 chr10:99258256-99258265 chr10:99258253-99258266
25	POLR2A	chr10:99257369-99258670	GM15510	blood:	n/a	n/a
26	NFIC	chr10:99257347-99259530	ECC-1	luminal epithelium:	n/a	n/a
27	E2F4	chr10:99257489-99258708	MCF10A-Er-Src	breast:	n/a	chr10:99258670-99258679 chr10:99257949-99257961 chr10:99258238-99258247
28	POLR2A	chr10:99258473-99259344	HUVEC	blood vessel:	n/a	n/a
29	BHLHE40	chr10:99257292-99258845	GM12878	blood:	n/a	chr10:99258255-99258264 chr10:99258254-99258263 chr10:99258255-99258264 chr10:99257608-99257624 chr10:99258256-99258265 chr10:99258253-99258266
30	MAX	chr10:99257409-99258850	MCF-7	breast:	n/a	chr10:99258254-99258265 chr10:99258255-99258264 chr10:99258671-99258681
31	STAT3	chr10:99258082-99258578	MCF10A-Er-Src	breast:	n/a	chr10:99258291-99258303
32	CTCF	chr10:99258440-99258590	SK-N-SH_RA	brain:	n/a	n/a
33	ATF3	chr10:99257910-99258563	HepG2	liver:	n/a	chr10:99258244-99258264 chr10:99258238-99258247 chr10:99258410-99258419
34	EBF1	chr10:99257933-99258831	GM12878	blood:	n/a	chr10:99258221-99258230
35	MAZ	chr10:99257613-99259393	HepG2	liver:	n/a	chr10:99258254-99258265 chr10:99258920-99258930 chr10:99258255-99258264 chr10:99259189-99259199 chr10:99258671-99258681 chr10:99259326-99259336
36	MAX	chr10:99257444-99258770	Hela-S3	cervix:	n/a	chr10:99258254-99258265 chr10:99258255-99258264 chr10:99258671-99258681
37	POLR2A	chr10:99257471-99258529	K562	blood:	n/a	n/a
38	POLR2A	chr10:99257391-99258844	Hela-S3	cervix:	n/a	n/a
39	HMGN3	chr10:99257521-99259484	K562	blood:	n/a	n/a
40	MAX	chr10:99257406-99259409	NB4	blood:	n/a	chr10:99258254-99258265 chr10:99258920-99258930 chr10:99258255-99258264 chr10:99259189-99259199 chr10:99258671-99258681 chr10:99259326-99259336
41	POLR2A	chr10:99257160-99259048	U87	brain:	n/a	n/a
42	MAX	chr10:99257467-99258693	HUVEC	blood vessel:	n/a	chr10:99258254-99258265 chr10:99258255-99258264 chr10:99258671-99258681
43	ATF3	chr10:99258121-99258641	K562	blood:	n/a	chr10:99258244-99258264 chr10:99258238-99258247 chr10:99258410-99258419
44	JUND	chr10:99257394-99258936	A549	lung:	n/a	chr10:99258409-99258418
45	JUND	chr10:99258248-99259222	MCF-7	breast:	n/a	chr10:99258409-99258418
46	POLR2A	chr10:99257365-99258981	MCF-7	breast:	n/a	n/a
47	SIN3A	chr10:99257350-99259994	H1-hESC	embryonic stem cell:	n/a	chr10:99259344-99259357 chr10:99258820-99258831 chr10:99258406-99258417
48	MAX	chr10:99257335-99258762	MCF-7	breast:	n/a	chr10:99258254-99258265 chr10:99258255-99258264 chr10:99258671-99258681
49	MAX	chr10:99257320-99258924	HepG2	liver:	n/a	chr10:99258254-99258265 chr10:99258255-99258264 chr10:99258671-99258681
50	MYC	chr10:99257481-99258663	K562	blood:	n/a	chr10:99258254-99258265 chr10:99258255-99258264

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr10:99258515-99258565	H1-hESC	embryonic stem cell:	embryo
2	chr10:99258496-99258546	MCF-7	breast:	n/a
3	chr10:99258496-99258546	K562	blood:	n/a
4	chr10:99258505-99258555	RPTEC	kidney:	n/a
5	chr10:99258515-99258565	NB4	blood:	n/a
6	chr10:99258496-99258546	AG10803	skin:	n/a
7	chr10:99258496-99258546	HL-60	blood:	n/a
8	chr10:99258515-99258565	AG04450	lung:	fetal
9	chr10:99258505-99258555	GM12878	blood:	n/a
10	chr10:99258505-99258555	ProgFib	skin:	n/a
11	chr10:99258496-99258546	NT2-D1	testis:	n/a
12	chr10:99258496-99258546	HIPEpiC	eye:	n/a
13	chr10:99258496-99258546	ProgFib	skin:	n/a
14	chr10:99258496-99258546	HEK293	kidney:	embryo
15	chr10:99258515-99258565	HEEpiC	esophagus:	n/a
16	chr10:99258505-99258555	AG09319	gingival:	n/a
17	chr10:99258515-99258565	HCT-116	colon:	n/a
18	chr10:99258496-99258546	HCT-116	colon:	n/a
19	chr10:99258505-99258555	SK-N-SH_RA	brain:	n/a
20	chr10:99258505-99258555	BJ	skin:	n/a
21	chr10:99258505-99258555	AG10803	skin:	n/a
22	chr10:99258515-99258565	CMK	blood:	n/a
23	chr10:99258515-99258565	MCF-7	breast:	n/a
24	chr10:99258515-99258565	HRE	kidney:	n/a
25	chr10:99258496-99258546	NHDF-neo	bronchial:	n/a
26	chr10:99258496-99258546	BJ	skin:	n/a
27	chr10:99258496-99258546	AG04449	skin:	fetal
28	chr10:99258515-99258565	HAEpiC	amniotic membrane:	n/a
29	chr10:99258496-99258546	A549	lung:	n/a
30	chr10:99258505-99258555	Jurkat	blood:	n/a
31	chr10:99258515-99258565	HCF	heart:	n/a
32	chr10:99258505-99258555	HCPEpiC	choroid plexus:	n/a
33	chr10:99258505-99258555	Hepatocyte	liver:	n/a
34	chr10:99258496-99258546	NB4	blood:	n/a
35	chr10:99258496-99258546	AoSMC	blood vessel:	n/a
36	chr10:99258496-99258546	HNPCEpiC	eye:	n/a
37	chr10:99258515-99258565	HCM	heart:	n/a
38	chr10:99258505-99258555	NB4	blood:	n/a
39	chr10:99258496-99258546	H1-hESC	embryonic stem cell:	embryo
40	chr10:99258505-99258555	HAEpiC	amniotic membrane:	n/a
41	chr10:99258515-99258565	Caco-2	colon:	n/a
42	chr10:99258496-99258546	HRE	kidney:	n/a
43	chr10:99258515-99258565	GM06990	blood:	n/a
44	chr10:99258505-99258555	NH-A	brain:	n/a
45	chr10:99258515-99258565	HRCEpiC	kidney:	n/a
46	chr10:99258496-99258546	GM12891	blood:	n/a
47	chr10:99258496-99258546	AG09309	skin:	n/a
48	chr10:99258515-99258565	SAEC	small airway:	n/a
49	chr10:99258515-99258565	SKMC	muscle:	n/a
50	chr10:99258515-99258565	AG09319	gingival:	n/a

No.	Distal block	Cell Line	Cell type
1	chr10:99256769..99258998-chr15:71406274..71408704,2	MCF-7	breast:
2	chr10:99205729..99207747-chr10:99256104..99259230,4	MCF-7	breast:
3	chr10:99257383..99259278-chr10:99348125..99351802,3	MCF-7	breast:
4	chr10:99184102..99187983-chr10:99256299..99259028,4	MCF-7	breast:
5	chr10:99256761..99259494-chr10:99495841..99497583,3	K562	blood:
6	chr10:99255590..99258774-chr10:99331777..99334688,4	MCF-7	breast:
7	chr10:99257860..99258824-chr19:39109137..39109745,2	NB4	blood:
8	chr10:99256903..99258777-chr10:99359333..99362265,3	MCF-7	breast:
9	chr10:99159358..99162440-chr10:99256931..99260180,3	MCF-7	breast:
10	chr10:99204416..99207741-chr10:99255231..99259773,5	K562	blood:
11	chr10:99222186..99224911-chr10:99257446..99259011,2	MCF-7	breast:
12	chr10:99186982..99190152-chr10:99256815..99259689,3	K562	blood:
13	chr10:99205621..99207743-chr10:99257584..99260294,2	MCF-7	breast:
14	chr10:70715359..70716001-chr10:99257992..99258949,2	NB4	blood:
15	chr10:99256533..99260506-chr10:99329939..99335950,10	MCF-7	breast:
16	chr10:99158733..99161055-chr10:99257726..99260280,2	MCF-7	breast:
17	chr10:99257811..99258591-chr7:27170109..27170609,2	NB4	blood:
18	chr10:99257277..99258845-chr10:99472952..99474913,2	MCF-7	breast:
19	chr10:99229450..99232386-chr10:99257902..99259455,2	MCF-7	breast:

Variant related genes	Relation type
MMS19	TF binding region
UBTD1	TF binding region
UBTD1	CpG island
MMS19	CpG island
ENSG00000171311	Chromatin interaction
ENSG00000155256	Chromatin interaction
ENSG00000171307	Chromatin interaction
ENSG00000171314	Chromatin interaction
ENSG00000203942	Chromatin interaction
ENSG00000052749	Chromatin interaction
ENSG00000197576	Chromatin interaction
ENSG00000165887	Chromatin interaction
ENSG00000104814	Chromatin interaction
ENSG00000231970	Chromatin interaction
ENSG00000225362	Chromatin interaction
ENSG00000178982	Chromatin interaction
ENSG00000165732	Chromatin interaction
ENSG00000155229	Chromatin interaction
ENSG00000224474	Chromatin interaction
ENSG00000155254	Chromatin interaction
ENSG00000241935	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11189254	0.87[ASN][1000 genomes]
rs17107905	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17112803	0.91[ASN][1000 genomes]
rs28987106	1.00[AMR][1000 genomes]
rs29001266	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs29001273	1.00[AMR][1000 genomes]
rs29001325	1.00[AMR][1000 genomes]
rs3814552	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1817777	chr10:99196035-99558169	Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
2	esv3440915	chr10:99257587-99260135	Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:99256400-99259400	Active TSS	K562	blood
2	chr10:99256800-99259800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr10:99256800-99260000	Active TSS	Aorta	Aorta
4	chr10:99257000-99259000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr10:99257000-99259400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr10:99257000-99259400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr10:99257000-99259400	Active TSS	Stomach Smooth Muscle	stomach
8	chr10:99257000-99259400	Active TSS	GM12878-XiMat	blood
9	chr10:99257000-99259600	Active TSS	Fetal Muscle Leg	muscle
10	chr10:99257000-99259600	Active TSS	NHEK	skin
11	chr10:99257000-99259800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr10:99257000-99259800	Active TSS	Breast Myoepithelial Primary Cells	Breast
13	chr10:99257000-99259800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr10:99257000-99259800	Active TSS	Brain Inferior Temporal Lobe	brain
15	chr10:99257000-99259800	Active TSS	A549	lung
16	chr10:99257000-99259800	Active TSS	HSMMtube	muscle
17	chr10:99257000-99259800	Active TSS	NHDF-Ad	bronchial
18	chr10:99257000-99259800	Active TSS	NHLF	lung
19	chr10:99257000-99260400	Active TSS	Brain Angular Gyrus	brain
20	chr10:99257000-99260400	Active TSS	HSMM	muscle
21	chr10:99257200-99259200	Active TSS	Hela-S3	cervix
22	chr10:99257200-99259400	Active TSS	HUES48 Cell Line	embryonic stem cell
23	chr10:99257200-99259400	Active TSS	HUES6 Cell Line	embryonic stem cell
24	chr10:99257200-99259600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr10:99257200-99259600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr10:99257200-99259600	Active TSS	iPS-15b Cell Line	embryonic stem cell
27	chr10:99257200-99259600	Active TSS	Brain Cingulate Gyrus	brain
28	chr10:99257200-99259600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr10:99257200-99259800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr10:99257200-99259800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr10:99257200-99259800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr10:99257200-99259800	Active TSS	Muscle Satellite Cultured Cells	--
33	chr10:99257200-99259800	Active TSS	Brain Anterior Caudate	brain
34	chr10:99257200-99259800	Active TSS	Fetal Kidney	kidney
35	chr10:99257200-99259800	Active TSS	Psoas Muscle	Psoas
36	chr10:99257200-99259800	Active TSS	Right Ventricle	heart
37	chr10:99257200-99259800	Active TSS	HMEC	breast
38	chr10:99257200-99260000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr10:99257200-99260000	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr10:99257400-99258800	Active TSS	Dnd41	blood
41	chr10:99257400-99259000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr10:99257400-99259000	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr10:99257400-99259200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr10:99257400-99259200	Active TSS	iPS-18 Cell Line	embryonic stem cell
45	chr10:99257400-99259200	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr10:99257400-99259200	Active TSS	Primary T killer memory cells from peripheral blood	blood
47	chr10:99257400-99259200	Active TSS	Sigmoid Colon	Sigmoid Colon
48	chr10:99257400-99259400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
49	chr10:99257400-99259400	Active TSS	Primary T helper cells PMA-I stimulated	--
50	chr10:99257400-99259400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood

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