Variant report

Variant	rs10984626
Chromosome Location	chr9:100744594-100744595
allele	C/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	PML	chr9:100744433-100745863	K562	blood:	n/a	chr9:100745636-100745644
2	POLR2A	chr9:100742757-100747832	K562	blood:	n/a	n/a
3	JUND	chr9:100744580-100744916	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr9:100742705-100747942	PBDE	blood:	n/a	n/a
5	TEAD4	chr9:100744525-100744978	H1-hESC	embryonic stem cell:	n/a	n/a
6	MXI1	chr9:100742672-100749207	SK-N-SH	brain:	n/a	chr9:100742948-100742963 chr9:100747897-100747906
7	TCF12	chr9:100744581-100744869	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr9:100744502-100748027	GM18505	blood:	n/a	n/a
9	POLR2A	chr9:100743342-100749363	K562	blood:	n/a	n/a
10	POLR2A	chr9:100744571-100745180	H1-hESC	embryonic stem cell:	n/a	n/a
11	TCF12	chr9:100744555-100744989	H1-hESC	embryonic stem cell:	n/a	chr9:100744964-100744974
12	MYC	chr9:100744584-100748143	K562	blood:	n/a	chr9:100747186-100747195 chr9:100747738-100747749 chr9:100745050-100745060 chr9:100747739-100747748 chr9:100747738-100747749 chr9:100747739-100747749 chr9:100745365-100745374 chr9:100747739-100747748 chr9:100747739-100747749 chr9:100747187-100747194 chr9:100747185-100747196 chr9:100745284-100745293 chr9:100746432-100746442 chr9:100745379-100745386 chr9:100747185-100747196 chr9:100747738-100747748 chr9:100747740-100747747 chr9:100745376-100745385
13	POLR2A	chr9:100744535-100748054	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr9:100743431-100747853	Raji	blood:	n/a	n/a
15	POLR2A	chr9:100744526-100747007	SK-N-MC	brain:	n/a	n/a
16	TBL1XR1	chr9:100743779-100745748	K562	blood:	n/a	n/a
17	HEY1	chr9:100744513-100748046	K562	blood:	n/a	chr9:100747053-100747068 chr9:100745977-100745992 chr9:100745607-100745622 chr9:100746027-100746042 chr9:100745786-100745801 chr9:100747384-100747399 chr9:100747240-100747255 chr9:100746257-100746272
18	TBP	chr9:100742551-100747799	K562	blood:	n/a	n/a
19	POU5F1	chr9:100744591-100745007	H1-hESC	embryonic stem cell:	n/a	chr9:100744849-100744863
20	POLR2A	chr9:100744526-100747903	K562	blood:	n/a	n/a
21	POLR2A	chr9:100744539-100747907	K562	blood:	n/a	n/a
22	UBTF	chr9:100744118-100747888	K562	blood:	n/a	n/a
23	POLR2A	chr9:100744534-100748321	GM12878	blood:	n/a	n/a
24	ZNF384	chr9:100744565-100745793	K562	blood:	n/a	n/a
25	POLR2A	chr9:100744565-100748198	GM12878	blood:	n/a	n/a
26	ATF2	chr9:100744483-100744971	H1-hESC	embryonic stem cell:	n/a	n/a
27	MAZ	chr9:100742476-100747973	K562	blood:	n/a	chr9:100747186-100747195 chr9:100747738-100747749 chr9:100745050-100745060 chr9:100747739-100747748 chr9:100747738-100747749 chr9:100745365-100745374 chr9:100747739-100747748 chr9:100742954-100742964 chr9:100747739-100747749 chr9:100747187-100747194 chr9:100747185-100747196 chr9:100745284-100745293 chr9:100746432-100746442 chr9:100745379-100745386 chr9:100747185-100747196 chr9:100747738-100747748 chr9:100747740-100747747 chr9:100745376-100745385
28	POLR2A	chr9:100744592-100747301	IMR90	lung:	n/a	n/a
29	POLR2A	chr9:100743637-100747962	K562	blood:	n/a	n/a
30	POLR2A	chr9:100743909-100748073	K562	blood:	n/a	n/a
31	TEAD4	chr9:100744441-100744846	K562	blood:	n/a	n/a
32	MAZ	chr9:100744470-100748081	IMR90	lung:	n/a	chr9:100747186-100747195 chr9:100747738-100747749 chr9:100745050-100745060 chr9:100747739-100747748 chr9:100747738-100747749 chr9:100745365-100745374 chr9:100747739-100747748 chr9:100747739-100747749 chr9:100747187-100747194 chr9:100747185-100747196 chr9:100745284-100745293 chr9:100746432-100746442 chr9:100745379-100745386 chr9:100747185-100747196 chr9:100747738-100747748 chr9:100747740-100747747 chr9:100745376-100745385
33	SP1	chr9:100744476-100745095	H1-hESC	embryonic stem cell:	n/a	n/a
34	JUND	chr9:100744534-100746226	K562	blood:	n/a	chr9:100745695-100745704 chr9:100746200-100746209 chr9:100746025-100746034
35	POLR2A	chr9:100744138-100747904	K562	blood:	n/a	n/a
36	JUN	chr9:100741876-100746321	K562	blood:	n/a	chr9:100745695-100745704 chr9:100746200-100746209 chr9:100746025-100746034
37	ZNF274	chr9:100744546-100744862	H1-hESC	embryonic stem cell:	n/a	n/a
38	POLR2A	chr9:100744500-100748202	GM12891	blood:	n/a	n/a
39	POLR2A	chr9:100742992-100747325	K562	blood:	n/a	n/a
40	NR2F2	chr9:100744571-100745980	K562	blood:	n/a	n/a
41	EP300	chr9:100744507-100745244	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr9:100744504-100747891	K562	blood:	n/a	n/a
43	CTCF	chr9:100744443-100747485	A549	lung:	n/a	n/a
44	POLR2A	chr9:100744552-100744796	H1-hESC	embryonic stem cell:	n/a	n/a
45	HEY1	chr9:100744510-100745456	K562	blood:	n/a	n/a
46	POLR2A	chr9:100744551-100748288	GM12878	blood:	n/a	n/a
47	POLR2A	chr9:100743233-100748800	K562	blood:	n/a	n/a
48	POLR2A	chr9:100744432-100744965	SK-N-MC	brain:	n/a	n/a
49	PML	chr9:100744533-100746299	GM12878	blood:	n/a	chr9:100745636-100745644
50	POLR2A	chr9:100743274-100748073	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
2	chr9:100744471..100747062-chr9:100817673..100820807,4	MCF-7	breast:
3	chr9:100743079..100747890-chr9:100817276..100822371,7	K562	blood:
4	chr9:100682029..100688801-chr9:100740969..100749393,29	MCF-7	breast:
5	chr9:100742340..100750312-chr9:100816953..100823782,17	MCF-7	breast:
6	chr9:100393798..100396909-chr9:100744219..100748139,5	MCF-7	breast:
7	chr9:100437101..100439123-chr9:100743935..100746928,2	K562	blood:
8	chr9:100744384..100747791-chr9:101014978..101019057,4	MCF-7	breast:
9	chr9:100395236..100396868-chr9:100743200..100745382,2	K562	blood:
10	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
11	chr9:100682507..100691249-chr9:100739828..100748095,35	MCF-7	breast:
12	chr9:100394431..100399065-chr9:100743200..100747046,6	K562	blood:
13	chr9:100743877..100746388-chr9:123637926..123639429,2	K562	blood:

Variant related genes	Relation type
ANP32B	TF binding region
ENSG00000095383	Chromatin interaction
ENSG00000136929	Chromatin interaction
ENSG00000136937	Chromatin interaction
ENSG00000119403	Chromatin interaction
ENSG00000136932	Chromatin interaction
ENSG00000231521	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000136925	Chromatin interaction
ENSG00000136936	Chromatin interaction
ENSG00000201830	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10984611	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10984613	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10984738	0.82[ASN][1000 genomes]
rs10984772	0.82[ASN][1000 genomes]
rs10984785	0.82[ASN][1000 genomes]
rs10984838	0.82[ASN][1000 genomes]
rs10984858	0.82[ASN][1000 genomes]
rs12237766	0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv893612	chr9:100732802-100754703	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
2	esv3426844	chr9:100744156-100747104	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases
3	esv3525787	chr9:100744481-100748729	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases
4	esv3525788	chr9:100744481-100748729	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100735800-100744800	Weak transcription	Right Atrium	heart
2	chr9:100740600-100745600	Enhancers	Fetal Brain Male	brain
3	chr9:100740800-100744600	Enhancers	Primary T cells from cord blood	blood
4	chr9:100740800-100744600	Weak transcription	Spleen	Spleen
5	chr9:100741200-100744600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr9:100741400-100744600	Enhancers	Primary T helper cells PMA-I stimulated	--
7	chr9:100741400-100744600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr9:100741400-100744600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr9:100741400-100744800	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr9:100741800-100744600	Enhancers	Primary T killer memory cells from peripheral blood	blood
11	chr9:100742200-100744600	Enhancers	Cortex derived primary cultured neurospheres	brain
12	chr9:100742200-100744600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr9:100742200-100744600	Enhancers	Fetal Muscle Leg	muscle
14	chr9:100742400-100744600	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr9:100742400-100744600	Enhancers	HSMMtube	muscle
16	chr9:100742600-100744600	Enhancers	Adipose Nuclei	Adipose
17	chr9:100742600-100744800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr9:100742600-100744800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr9:100742600-100744800	Enhancers	Placenta Amnion	Placenta Amnion
20	chr9:100742800-100744600	Weak transcription	Brain Angular Gyrus	brain
21	chr9:100742800-100744600	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr9:100742800-100744600	Enhancers	HMEC	breast
23	chr9:100742800-100744800	Flanking Active TSS	NHEK	skin
24	chr9:100743000-100744600	Enhancers	Rectal Mucosa Donor 29	rectum
25	chr9:100743200-100744600	Enhancers	Primary T helper naive cells from peripheral blood	blood
26	chr9:100743200-100744600	Enhancers	Muscle Satellite Cultured Cells	--
27	chr9:100743200-100745000	Enhancers	Lung	lung
28	chr9:100743400-100744600	Enhancers	Hela-S3	cervix
29	chr9:100743600-100744600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
30	chr9:100743600-100744600	Enhancers	Brain Cingulate Gyrus	brain
31	chr9:100743600-100744600	Enhancers	Brain Substantia Nigra	brain
32	chr9:100743600-100744600	Weak transcription	Fetal Muscle Trunk	muscle
33	chr9:100743600-100744600	Weak transcription	Pancreas	Pancrea
34	chr9:100743600-100744600	Weak transcription	Rectal Smooth Muscle	rectum
35	chr9:100743600-100744800	Enhancers	Primary hematopoietic stem cells	blood
36	chr9:100743600-100744800	Enhancers	Left Ventricle	heart
37	chr9:100743600-100744800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr9:100743800-100744600	Enhancers	Primary T helper cells fromperipheralblood	blood
39	chr9:100743800-100744600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
40	chr9:100743800-100744600	Enhancers	Brain Anterior Caudate	brain
41	chr9:100743800-100744600	Enhancers	Brain Germinal Matrix	brain
42	chr9:100743800-100744600	Enhancers	Colonic Mucosa	Colon
43	chr9:100743800-100744600	Bivalent Enhancer	HepG2	liver
44	chr9:100743800-100744800	Bivalent Enhancer	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
45	chr9:100743800-100744800	Enhancers	Colon Smooth Muscle	Colon
46	chr9:100743800-100745000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr9:100743800-100745200	Flanking Active TSS	Fetal Thymus	thymus
48	chr9:100744000-100744600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr9:100744000-100744600	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr9:100744000-100744600	Enhancers	Brain Hippocampus Middle	brain

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