Variant report

Variant	rs553570987
Chromosome Location	chr9:100744824-100744825
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	ZBTB7A	chr9:100744813-100746153	K562	blood:	n/a	n/a
4	MYC	chr9:100744695-100748168	MCF10A-Er-Src	breast:	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
5	E2F6	chr9:100744815-100746295	A549	lung:	n/a	chr9:100745713-100745722 chr9:100746030-100746039 chr9:100746201-100746210 chr9:100745233-100745245 chr9:100745426-100745433
6	SMARCB1	chr9:100744665-100747777	Hela-S3	cervix:	n/a	n/a
7	JUND	chr9:100744580-100744916	H1-hESC	embryonic stem cell:	n/a	n/a
8	POLR2A	chr9:100742705-100747942	PBDE	blood:	n/a	n/a
9	TEAD4	chr9:100744525-100744978	H1-hESC	embryonic stem cell:	n/a	n/a
10	POLR2A	chr9:100744717-100747928	GM12892	blood:	n/a	n/a
11	MXI1	chr9:100742672-100749207	SK-N-SH	brain:	n/a	chr9:100742948-100742963 chr9:100747897-100747906
12	MXI1	chr9:100744822-100745662	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr9:100744634-100747532	PFSK-1	brain:	n/a	n/a
14	TCF12	chr9:100744581-100744869	H1-hESC	embryonic stem cell:	n/a	n/a
15	POLR2A	chr9:100744767-100747982	GM12892	blood:	n/a	n/a
16	ZBTB7A	chr9:100744822-100746672	ECC-1	luminal epithelium:	n/a	n/a
17	MTA3	chr9:100744605-100746379	GM12878	blood:	n/a	n/a
18	POLR2A	chr9:100744502-100748027	GM18505	blood:	n/a	n/a
19	POLR2A	chr9:100744763-100747976	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr9:100744766-100747975	GM12892	blood:	n/a	n/a
21	POLR2A	chr9:100743342-100749363	K562	blood:	n/a	n/a
22	POLR2A	chr9:100744571-100745180	H1-hESC	embryonic stem cell:	n/a	n/a
23	TCF12	chr9:100744555-100744989	H1-hESC	embryonic stem cell:	n/a	chr9:100744964-100744974
24	MXI1	chr9:100744793-100747557	IMR90	lung:	n/a	n/a
25	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
26	MAZ	chr9:100744822-100747932	GM12878	blood:	n/a	chr9:100747186-100747195 chr9:100747738-100747749 chr9:100745050-100745060 chr9:100747739-100747748 chr9:100747738-100747749 chr9:100745365-100745374 chr9:100747739-100747748 chr9:100747739-100747749 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
27	POLR2A	chr9:100744535-100748054	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr9:100744798-100747815	HCT-116	colon:	n/a	n/a
29	POLR2A	chr9:100743431-100747853	Raji	blood:	n/a	n/a
30	POLR2A	chr9:100744679-100747908	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr9:100744526-100747007	SK-N-MC	brain:	n/a	n/a
32	TBL1XR1	chr9:100743779-100745748	K562	blood:	n/a	n/a
33	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
34	TBP	chr9:100742551-100747799	K562	blood:	n/a	n/a
35	POLR2A	chr9:100744633-100747573	HCT-116	colon:	n/a	n/a
36	ZNF263	chr9:100744612-100745736	HEK293-T-REx	kidney:	n/a	chr9:100745397-100745406
37	POU5F1	chr9:100744591-100745007	H1-hESC	embryonic stem cell:	n/a	chr9:100744849-100744863
38	E2F6	chr9:100744694-100745797	H1-hESC	embryonic stem cell:	n/a	chr9:100745713-100745722 chr9:100745233-100745245 chr9:100745426-100745433
39	MAX	chr9:100744816-100745848	A549	lung:	n/a	chr9:100745050-100745060 chr9:100745365-100745374 chr9:100745284-100745293 chr9:100745379-100745386 chr9:100745376-100745385
40	POLR2A	chr9:100744526-100747903	K562	blood:	n/a	n/a
41	POLR2A	chr9:100744822-100747941	H1-hESC	embryonic stem cell:	n/a	n/a
42	POLR2A	chr9:100744539-100747907	K562	blood:	n/a	n/a
43	UBTF	chr9:100744118-100747888	K562	blood:	n/a	n/a
44	POLR2A	chr9:100744534-100748321	GM12878	blood:	n/a	n/a
45	ZNF384	chr9:100744565-100745793	K562	blood:	n/a	n/a
46	POLR2A	chr9:100744565-100748198	GM12878	blood:	n/a	n/a
47	ZBTB7A	chr9:100744663-100745870	ECC-1	luminal epithelium:	n/a	n/a
48	ATF2	chr9:100744483-100744971	H1-hESC	embryonic stem cell:	n/a	n/a
49	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
50	POLR2A	chr9:100744818-100746410	GM12891	blood:	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	chr9:100744716..100748585-chr9:100832900..100838437,10	MCF-7	breast:
9	chr17:66286131..66288526-chr9:100744742..100747480,2	MCF-7	breast:
10	chr9:100705963..100708319-chr9:100744697..100747203,2	MCF-7	breast:
11	chr9:100744384..100747791-chr9:101014978..101019057,4	MCF-7	breast:
12	chr9:100395236..100396868-chr9:100743200..100745382,2	K562	blood:
13	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
14	chr9:100461133..100463354-chr9:100744707..100746870,2	MCF-7	breast:
15	chr9:100682507..100691249-chr9:100739828..100748095,35	MCF-7	breast:
16	chr9:100394431..100399065-chr9:100743200..100747046,6	K562	blood:
17	chr9:100743877..100746388-chr9:123637926..123639429,2	K562	blood:

Variant related genes	Relation type
ANP32B	TF binding region
ENSG00000095383	Chromatin interaction
ENSG00000136925	Chromatin interaction
ENSG00000201830	Chromatin interaction
ENSG00000136937	Chromatin interaction
ENSG00000214417	Chromatin interaction
ENSG00000136932	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000266608	Chromatin interaction
ENSG00000141337	Chromatin interaction
ENSG00000136936	Chromatin interaction
ENSG00000231521	Chromatin interaction
ENSG00000108932	Chromatin interaction
ENSG00000136929	Chromatin interaction
ENSG00000119403	Chromatin interaction

Extended variants
information (count: 4 )
Associated
traits (count: 0)

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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr9:100740600-100745600	Enhancers	Fetal Brain Male	brain
2	chr9:100743200-100745000	Enhancers	Lung	lung
3	chr9:100743800-100745000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr9:100743800-100745200	Flanking Active TSS	Fetal Thymus	thymus
5	chr9:100744000-100747800	Active TSS	Brain Inferior Temporal Lobe	brain
6	chr9:100744200-100745000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr9:100744200-100745200	Flanking Active TSS	GM12878-XiMat	blood
8	chr9:100744200-100745400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr9:100744200-100747800	Active TSS	Fetal Brain Female	brain
10	chr9:100744400-100745000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr9:100744400-100745200	Flanking Active TSS	Dnd41	blood
12	chr9:100744400-100745400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr9:100744400-100745400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
14	chr9:100744400-100745400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
15	chr9:100744400-100745400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
16	chr9:100744400-100745400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr9:100744400-100747800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
18	chr9:100744600-100745000	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
19	chr9:100744600-100745000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
20	chr9:100744600-100745000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
21	chr9:100744600-100745000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr9:100744600-100745000	Flanking Active TSS	Brain Cingulate Gyrus	brain
23	chr9:100744600-100745000	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr9:100744600-100745000	Flanking Active TSS	Brain Hippocampus Middle	brain
25	chr9:100744600-100745000	Flanking Active TSS	Thymus	Thymus
26	chr9:100744600-100745000	Enhancers	Spleen	Spleen
27	chr9:100744600-100745200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
28	chr9:100744600-100745200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr9:100744600-100745200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
30	chr9:100744600-100745200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
31	chr9:100744600-100745200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
32	chr9:100744600-100745200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr9:100744600-100745200	Flanking Active TSS	Fetal Intestine Small	intestine
34	chr9:100744600-100745200	Flanking Active TSS	Fetal Muscle Leg	muscle
35	chr9:100744600-100745200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
36	chr9:100744600-100745200	Flanking Active TSS	NH-A	brain
37	chr9:100744600-100745400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
38	chr9:100744600-100745400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
39	chr9:100744600-100745400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
40	chr9:100744600-100745400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
41	chr9:100744600-100745400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr9:100744600-100745400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr9:100744600-100745400	Flanking Active TSS	Adipose Nuclei	Adipose
44	chr9:100744600-100745400	Flanking Active TSS	Colonic Mucosa	Colon
45	chr9:100744600-100745400	Flanking Active TSS	Fetal Muscle Trunk	muscle
46	chr9:100744600-100745400	Flanking Active TSS	HMEC	breast
47	chr9:100744600-100745400	Flanking Active TSS	HUVEC	blood vessel
48	chr9:100744600-100745400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr9:100744600-100745600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr9:100744600-100747400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin

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