Variant report

Variant	rs148880608
Chromosome Location	chr9:100745168-100745169
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	PML	chr9:100744433-100745863	K562	blood:	n/a	chr9:100745636-100745644
2	POLR2A	chr9:100744970-100747731	HUVEC	blood vessel:	n/a	n/a
3	POLR2A	chr9:100744921-100746497	GM12878	blood:	n/a	n/a
4	POLR2A	chr9:100744910-100745789	A549	lung:	n/a	n/a
5	MAX	chr9:100744877-100746260	SK-N-SH	brain:	n/a	chr9:100745050-100745060 chr9:100745365-100745374 chr9:100745284-100745293 chr9:100745379-100745386 chr9:100745376-100745385
6	POLR2A	chr9:100744838-100747960	HL-60	blood:	n/a	n/a
7	POLR2A	chr9:100742757-100747832	K562	blood:	n/a	n/a
8	TEAD4	chr9:100745116-100745895	K562	blood:	n/a	n/a
9	JUND	chr9:100744958-100745740	MCF-7	breast:	n/a	chr9:100745695-100745704
10	ZBTB7A	chr9:100744813-100746153	K562	blood:	n/a	n/a
11	MXI1	chr9:100744895-100748087	GM12878	blood:	n/a	chr9:100747897-100747906
12	TBP	chr9:100745152-100745815	HepG2	liver:	n/a	n/a
13	MYC	chr9:100745033-100745756	K562	blood:	n/a	chr9:100745050-100745060 chr9:100745365-100745374 chr9:100745284-100745293 chr9:100745379-100745386 chr9:100745376-100745385
14	POLR2A	chr9:100744937-100747748	Hela-S3	cervix:	n/a	n/a
15	GATA3	chr9:100744905-100746299	A549	lung:	n/a	n/a
16	SMC3	chr9:100744905-100745735	Hela-S3	cervix:	n/a	n/a
17	POLR2A	chr9:100744894-100747814	GM18526	blood:	n/a	n/a
18	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
19	USF1	chr9:100745163-100745581	ECC-1	luminal epithelium:	n/a	n/a
20	E2F6	chr9:100744815-100746295	A549	lung:	n/a	chr9:100745713-100745722 chr9:100746030-100746039 chr9:100746201-100746210 chr9:100745233-100745245 chr9:100745426-100745433
21	MYC	chr9:100744989-100746185	NB4	blood:	n/a	chr9:100745050-100745060 chr9:100745365-100745374 chr9:100745284-100745293 chr9:100745379-100745386 chr9:100745376-100745385
22	SPI1	chr9:100745082-100745682	HL-60	blood:	n/a	n/a
23	POLR2A	chr9:100744872-100747815	GM12892	blood:	n/a	n/a
24	REST	chr9:100744826-100746130	HL-60	blood:	n/a	chr9:100746036-100746049
25	POLR2A	chr9:100745095-100745808	U87	brain:	n/a	n/a
26	SMARCB1	chr9:100744665-100747777	Hela-S3	cervix:	n/a	n/a
27	CEBPB	chr9:100745121-100745621	ECC-1	luminal epithelium:	n/a	n/a
28	POLR2A	chr9:100742705-100747942	PBDE	blood:	n/a	n/a
29	RCOR1	chr9:100745115-100745715	K562	blood:	n/a	n/a
30	POLR2A	chr9:100744949-100747863	NB4	blood:	n/a	n/a
31	EP300	chr9:100744884-100745897	ECC-1	luminal epithelium:	n/a	chr9:100745603-100745619 chr9:100745716-100745725 chr9:100745694-100745703
32	ELK1	chr9:100745068-100745918	K562	blood:	n/a	n/a
33	POLR2A	chr9:100744717-100747928	GM12892	blood:	n/a	n/a
34	MYBL2	chr9:100744979-100745827	HepG2	liver:	n/a	n/a
35	CHD2	chr9:100744895-100747790	Hela-S3	cervix:	n/a	chr9:100747607-100747617 chr9:100747760-100747770 chr9:100745426-100745433 chr9:100746427-100746437
36	MXI1	chr9:100742672-100749207	SK-N-SH	brain:	n/a	chr9:100742948-100742963 chr9:100747897-100747906
37	FOXM1	chr9:100745054-100745774	GM12878	blood:	n/a	n/a
38	POLR2A	chr9:100744931-100747839	HepG2	liver:	n/a	n/a
39	MXI1	chr9:100744822-100745662	Hela-S3	cervix:	n/a	n/a
40	POLR2A	chr9:100744634-100747532	PFSK-1	brain:	n/a	n/a
41	TCF7L2	chr9:100744933-100745754	Hela-S3	cervix:	n/a	n/a
42	EGR1	chr9:100745100-100745834	MCF-7	breast:	n/a	chr9:100745788-100745798 chr9:100745158-100745167 chr9:100745788-100745801 chr9:100745392-100745406 chr9:100745787-100745801 chr9:100745341-100745351 chr9:100745788-100745801 chr9:100745788-100745801 chr9:100745789-100745798
43	RCOR1	chr9:100744995-100745767	K562	blood:	n/a	n/a
44	HCFC1	chr9:100745033-100745845	K562	blood:	n/a	n/a
45	POLR2A	chr9:100744767-100747982	GM12892	blood:	n/a	n/a
46	BCLAF1	chr9:100745005-100745792	GM12878	blood:	n/a	chr9:100745725-100745734 chr9:100745713-100745726 chr9:100745716-100745729
47	TAF1	chr9:100745142-100745761	PFSK-1	brain:	n/a	n/a
48	EGR1	chr9:100745007-100745842	K562	blood:	n/a	chr9:100745788-100745798 chr9:100745158-100745167 chr9:100745788-100745801 chr9:100745392-100745406 chr9:100745787-100745801 chr9:100745341-100745351 chr9:100745788-100745801 chr9:100745788-100745801 chr9:100745789-100745798
49	ELF1	chr9:100745004-100745801	K562	blood:	n/a	chr9:100745139-100745148 chr9:100745716-100745725 chr9:100745135-100745147 chr9:100745719-100745731 chr9:100745780-100745792
50	ZBTB7A	chr9:100744822-100746672	ECC-1	luminal epithelium:	n/a	n/a

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr9:100745159-100745209	GM12892	blood:	n/a
2	chr9:100745159-100745209	HCM	heart:	n/a
3	chr9:100745139-100745189	HEK293	kidney:	embryo
4	chr9:100745139-100745189	Caco-2	colon:	n/a
5	chr9:100745159-100745209	BE2_C	brain:	n/a
6	chr9:100745139-100745189	HEEpiC	esophagus:	n/a
7	chr9:100745139-100745189	HMEC	breast:	n/a
8	chr9:100745139-100745189	SAEC	small airway:	n/a
9	chr9:100745139-100745189	CMK	blood:	n/a
10	chr9:100745159-100745209	GM12891	blood:	n/a
11	chr9:100745139-100745189	SK-N-SH	brain:	n/a
12	chr9:100745139-100745189	T-47D	breast:	n/a
13	chr9:100745139-100745189	Hepatocyte	liver:	n/a
14	chr9:100745139-100745189	AG04450	lung:	fetal
15	chr9:100745159-100745209	HRCEpiC	kidney:	n/a
16	chr9:100745159-100745209	IMR90	lung:	fetal
17	chr9:100745139-100745189	NB4	blood:	n/a
18	chr9:100745139-100745189	GM12878	blood:	n/a
19	chr9:100745159-100745209	AG09319	gingival:	n/a
20	chr9:100745159-100745209	MCF-7	breast:	n/a
21	chr9:100745139-100745189	HCM	heart:	n/a
22	chr9:100745139-100745189	HepG2	liver:	n/a
23	chr9:100745139-100745189	ECC-1	luminal epithelium:	n/a
24	chr9:100745159-100745209	HUVEC	blood vessel:	n/a
25	chr9:100745159-100745209	HPAEpiC	pulmonary alveolar:	n/a
26	chr9:100745159-100745209	NT2-D1	testis:	n/a
27	chr9:100745139-100745189	IMR90	lung:	fetal
28	chr9:100745159-100745209	HIPEpiC	eye:	n/a
29	chr9:100745159-100745209	HCPEpiC	choroid plexus:	n/a
30	chr9:100745159-100745209	SAEC	small airway:	n/a
31	chr9:100745159-100745209	HEK293	kidney:	embryo
32	chr9:100745159-100745209	HAEpiC	amniotic membrane:	n/a
33	chr9:100745159-100745209	SKMC	muscle:	n/a
34	chr9:100745139-100745189	HNPCEpiC	eye:	n/a
35	chr9:100745159-100745209	AoSMC	blood vessel:	n/a
36	chr9:100745159-100745209	SK-N-SH	brain:	n/a
37	chr9:100745139-100745189	Hela-S3	cervix:	n/a
38	chr9:100745139-100745189	MCF10A-Er-Src	breast:	n/a
39	chr9:100745159-100745209	HCF	heart:	n/a
40	chr9:100745159-100745209	PFSK-1	brain:	n/a
41	chr9:100745159-100745209	NHBE	bronchial:	n/a
42	chr9:100745159-100745209	K562	blood:	n/a
43	chr9:100745139-100745189	GM19239	blood:	n/a
44	chr9:100745139-100745189	A549	lung:	n/a
45	chr9:100745139-100745189	NHBE	bronchial:	n/a
46	chr9:100745139-100745189	BJ	skin:	n/a
47	chr9:100745139-100745189	AG09319	gingival:	n/a
48	chr9:100745139-100745189	HRCEpiC	kidney:	n/a
49	chr9:100745159-100745209	PANC-1	pancreas:	n/a
50	chr9:100745159-100745209	NB4	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
2	chr9:100674231..100678302-chr9:100744904..100747134,4	MCF-7	breast:
3	chr9:100744471..100747062-chr9:100817673..100820807,4	MCF-7	breast:
4	chr12:7050893..7053745-chr9:100745089..100746721,2	MCF-7	breast:
5	chr9:100743079..100747890-chr9:100817276..100822371,7	K562	blood:
6	chr9:100745095..100746036-chr9:125667296..125667841,2	Hela-S3	cervix:
7	chr9:100682029..100688801-chr9:100740969..100749393,29	MCF-7	breast:
8	chr9:100742340..100750312-chr9:100816953..100823782,17	MCF-7	breast:
9	chr14:34417944..34420786-chr9:100744880..100747851,2	MCF-7	breast:
10	chr9:100685626..100686321-chr9:100744853..100745599,2	MCF-7	breast:
11	chr9:100393798..100396909-chr9:100744219..100748139,5	MCF-7	breast:
12	chr9:100744956..100747904-chr9:100835369..100837055,2	K562	blood:
13	chr9:100395301..100398247-chr9:100745097..100747092,2	MCF-7	breast:
14	chr9:100744956..100747210-chr9:100835059..100837055,2	K562	blood:
15	chr6:34204437..34204948-chr9:100745047..100745884,2	HCT-116	colon:
16	chr9:100437101..100439123-chr9:100743935..100746928,2	K562	blood:
17	chr9:100744716..100748585-chr9:100832900..100838437,10	MCF-7	breast:
18	chr17:66286131..66288526-chr9:100744742..100747480,2	MCF-7	breast:
19	chr9:100705963..100708319-chr9:100744697..100747203,2	MCF-7	breast:
20	chr9:100744384..100747791-chr9:101014978..101019057,4	MCF-7	breast:
21	chr9:100395236..100396868-chr9:100743200..100745382,2	K562	blood:
22	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
23	chr9:100461133..100463354-chr9:100744707..100746870,2	MCF-7	breast:
24	chr9:100682507..100691249-chr9:100739828..100748095,35	MCF-7	breast:
25	chr9:100394431..100399065-chr9:100743200..100747046,6	K562	blood:
26	chr9:100743877..100746388-chr9:123637926..123639429,2	K562	blood:

Variant related genes	Relation type
ANP32B	TF binding region
ANP32B	CpG island
ENSG00000095380	Chromatin interaction
ENSG00000231521	Chromatin interaction
ENSG00000129521	Chromatin interaction
ENSG00000201830	Chromatin interaction
ENSG00000119403	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000266608	Chromatin interaction
ENSG00000108932	Chromatin interaction
ENSG00000214417	Chromatin interaction
ENSG00000141337	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000095383	Chromatin interaction
ENSG00000136936	Chromatin interaction
ENSG00000136929	Chromatin interaction
ENSG00000056586	Chromatin interaction
ENSG00000137309	Chromatin interaction
ENSG00000136932	Chromatin interaction
ENSG00000136937	Chromatin interaction
ENSG00000136925	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 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
5	esv3355582	chr9:100744831-100749229	Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
6	esv3441780	chr9:100745156-100748104	Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 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	chr9:100743800-100745200	Flanking Active TSS	Fetal Thymus	thymus
3	chr9:100744000-100747800	Active TSS	Brain Inferior Temporal Lobe	brain
4	chr9:100744200-100745200	Flanking Active TSS	GM12878-XiMat	blood
5	chr9:100744200-100745400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr9:100744200-100747800	Active TSS	Fetal Brain Female	brain
7	chr9:100744400-100745200	Flanking Active TSS	Dnd41	blood
8	chr9:100744400-100745400	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr9:100744400-100745400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
10	chr9:100744400-100745400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr9:100744400-100745400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
12	chr9:100744400-100745400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr9:100744400-100747800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
14	chr9:100744600-100745200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
15	chr9:100744600-100745200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
16	chr9:100744600-100745200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr9:100744600-100745200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
18	chr9:100744600-100745200	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
19	chr9:100744600-100745200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr9:100744600-100745200	Flanking Active TSS	Fetal Intestine Small	intestine
21	chr9:100744600-100745200	Flanking Active TSS	Fetal Muscle Leg	muscle
22	chr9:100744600-100745200	Flanking Bivalent TSS/Enh	Fetal Stomach	stomach
23	chr9:100744600-100745200	Flanking Active TSS	NH-A	brain
24	chr9:100744600-100745400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr9:100744600-100745400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
26	chr9:100744600-100745400	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
27	chr9:100744600-100745400	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
28	chr9:100744600-100745400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr9:100744600-100745400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr9:100744600-100745400	Flanking Active TSS	Adipose Nuclei	Adipose
31	chr9:100744600-100745400	Flanking Active TSS	Colonic Mucosa	Colon
32	chr9:100744600-100745400	Flanking Active TSS	Fetal Muscle Trunk	muscle
33	chr9:100744600-100745400	Flanking Active TSS	HMEC	breast
34	chr9:100744600-100745400	Flanking Active TSS	HUVEC	blood vessel
35	chr9:100744600-100745400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr9:100744600-100745600	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr9:100744600-100747400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr9:100744600-100747400	Active TSS	Psoas Muscle	Psoas
39	chr9:100744600-100747400	Active TSS	Osteobl	bone
40	chr9:100744600-100747600	Active TSS	A549	lung
41	chr9:100744600-100747600	Active TSS	HSMMtube	muscle
42	chr9:100744600-100747600	Active TSS	NHDF-Ad	bronchial
43	chr9:100744600-100747800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr9:100744600-100747800	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr9:100744600-100747800	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr9:100744600-100748000	Active TSS	Brain Angular Gyrus	brain
47	chr9:100744600-100748000	Active TSS	NHLF	lung
48	chr9:100744600-100748600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr9:100744800-100745200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr9:100744800-100745200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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