Variant report

Variant	rs561290011
Chromosome Location	chr9:100745905-100745906
allele	A/C
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	POLR2A	chr9:100744970-100747731	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr9:100744921-100746497	GM12878	blood:	n/a	n/a
3	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
4	POLR2A	chr9:100744838-100747960	HL-60	blood:	n/a	n/a
5	POLR2A	chr9:100742757-100747832	K562	blood:	n/a	n/a
6	E2F1	chr9:100745214-100747666	Hela-S3	cervix:	n/a	chr9:100745713-100745722 chr9:100747418-100747425 chr9:100746030-100746039 chr9:100747418-100747425 chr9:100746475-100746485 chr9:100746201-100746210 chr9:100747418-100747425 chr9:100745233-100745245 chr9:100745426-100745433
7	CHD2	chr9:100745820-100745965	HepG2	liver:	n/a	n/a
8	MAX	chr9:100745853-100746334	ECC-1	luminal epithelium:	n/a	n/a
9	ZBTB7A	chr9:100744813-100746153	K562	blood:	n/a	n/a
10	MXI1	chr9:100744895-100748087	GM12878	blood:	n/a	chr9:100747897-100747906
11	POLR2A	chr9:100744937-100747748	Hela-S3	cervix:	n/a	n/a
12	GATA3	chr9:100744905-100746299	A549	lung:	n/a	n/a
13	POLR2A	chr9:100744894-100747814	GM18526	blood:	n/a	n/a
14	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
15	TAF1	chr9:100745186-100746196	H1-neurons	neurons:	n/a	n/a
16	TAF1	chr9:100745414-100746360	H1-hESC	embryonic stem cell:	n/a	n/a
17	E2F6	chr9:100744815-100746295	A549	lung:	n/a	chr9:100745713-100745722 chr9:100746030-100746039 chr9:100746201-100746210 chr9:100745233-100745245 chr9:100745426-100745433
18	YY1	chr9:100745293-100747249	SK-N-SH_RA	brain:	n/a	chr9:100746227-100746236 chr9:100746688-100746699 chr9:100746391-100746405 chr9:100746599-100746609 chr9:100746860-100746868 chr9:100746397-100746411 chr9:100745790-100745801 chr9:100746598-100746614 chr9:100745713-100745722 chr9:100745784-100745793 chr9:100745717-100745731 chr9:100746225-100746247 chr9:100746245-100746259 chr9:100746599-100746609 chr9:100745790-100745799
19	MYC	chr9:100744989-100746185	NB4	blood:	n/a	chr9:100745050-100745060 chr9:100745365-100745374 chr9:100745284-100745293 chr9:100745379-100745386 chr9:100745376-100745385
20	POLR2A	chr9:100744872-100747815	GM12892	blood:	n/a	n/a
21	REST	chr9:100744826-100746130	HL-60	blood:	n/a	chr9:100746036-100746049
22	SMARCB1	chr9:100744665-100747777	Hela-S3	cervix:	n/a	n/a
23	POLR2A	chr9:100745772-100746002	GM12891	blood:	n/a	n/a
24	POLR2A	chr9:100742705-100747942	PBDE	blood:	n/a	n/a
25	MAX	chr9:100745871-100746275	SK-N-SH	brain:	n/a	n/a
26	POLR2A	chr9:100744949-100747863	NB4	blood:	n/a	n/a
27	ELK1	chr9:100745068-100745918	K562	blood:	n/a	n/a
28	POLR2A	chr9:100744717-100747928	GM12892	blood:	n/a	n/a
29	YY1	chr9:100745389-100746397	ECC-1	luminal epithelium:	n/a	chr9:100746227-100746236 chr9:100745790-100745801 chr9:100745713-100745722 chr9:100745784-100745793 chr9:100745717-100745731 chr9:100746225-100746247 chr9:100746245-100746259 chr9:100745790-100745799
30	MAX	chr9:100745847-100746242	H1-hESC	embryonic stem cell:	n/a	n/a
31	CHD2	chr9:100744895-100747790	Hela-S3	cervix:	n/a	chr9:100747607-100747617 chr9:100747760-100747770 chr9:100745426-100745433 chr9:100746427-100746437
32	YY1	chr9:100745815-100747128	H1-hESC	embryonic stem cell:	n/a	chr9:100746227-100746236 chr9:100746688-100746699 chr9:100746391-100746405 chr9:100746599-100746609 chr9:100746860-100746868 chr9:100746397-100746411 chr9:100746598-100746614 chr9:100746225-100746247 chr9:100746245-100746259 chr9:100746599-100746609
33	MXI1	chr9:100742672-100749207	SK-N-SH	brain:	n/a	chr9:100742948-100742963 chr9:100747897-100747906
34	POLR2A	chr9:100744931-100747839	HepG2	liver:	n/a	n/a
35	POLR2A	chr9:100744634-100747532	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr9:100744767-100747982	GM12892	blood:	n/a	n/a
37	POLR2A	chr9:100745503-100747876	GM12891	blood:	n/a	n/a
38	ZBTB7A	chr9:100744822-100746672	ECC-1	luminal epithelium:	n/a	n/a
39	TAF1	chr9:100745178-100747608	GM12878	blood:	n/a	n/a
40	POLR2A	chr9:100744839-100747941	GM19099	blood:	n/a	n/a
41	MTA3	chr9:100744605-100746379	GM12878	blood:	n/a	n/a
42	CHD2	chr9:100744961-100746207	GM12878	blood:	n/a	chr9:100745426-100745433
43	E2F6	chr9:100744922-100747947	K562	blood:	n/a	chr9:100745713-100745722 chr9:100747418-100747425 chr9:100746030-100746039 chr9:100747418-100747425 chr9:100746475-100746485 chr9:100746201-100746210 chr9:100747418-100747425 chr9:100745233-100745245 chr9:100745426-100745433
44	POLR2A	chr9:100744502-100748027	GM18505	blood:	n/a	n/a
45	MYC	chr9:100744890-100748204	A549	lung:	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
46	POLR2A	chr9:100744763-100747976	Hela-S3	cervix:	n/a	n/a
47	POLR2A	chr9:100744766-100747975	GM12892	blood:	n/a	n/a
48	POLR2A	chr9:100744888-100747282	SK-N-SH	brain:	n/a	n/a
49	MAX	chr9:100744856-100748034	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
50	CEBPD	chr9:100745890-100746729	HepG2	liver:	n/a	chr9:100746545-100746556

No.	Distal block	Cell Line	Cell type
1	chr9:100675954..100709047-chr9:100737887..100755543,175	K562	blood:
2	chr9:100745732..100748566-chr9:100835046..100837989,2	MCF-7	breast:
3	chr9:100674231..100678302-chr9:100744904..100747134,4	MCF-7	breast:
4	chr9:100744471..100747062-chr9:100817673..100820807,4	MCF-7	breast:
5	chr12:7050893..7053745-chr9:100745089..100746721,2	MCF-7	breast:
6	chr9:100743079..100747890-chr9:100817276..100822371,7	K562	blood:
7	chr9:100745095..100746036-chr9:125667296..125667841,2	Hela-S3	cervix:
8	chr8:86019469..86022152-chr9:100745432..100747844,2	MCF-7	breast:
9	chr9:100682029..100688801-chr9:100740969..100749393,29	MCF-7	breast:
10	chr9:100742340..100750312-chr9:100816953..100823782,17	MCF-7	breast:
11	chr14:34417944..34420786-chr9:100744880..100747851,2	MCF-7	breast:
12	chr22:31741916..31742662-chr9:100745388..100746260,2	Hela-S3	cervix:
13	chr9:99179878..99181441-chr9:100745582..100747137,2	K562	blood:
14	chr11:64072524..64073316-chr9:100745879..100746665,2	Hela-S3	cervix:
15	chr9:100393798..100396909-chr9:100744219..100748139,5	MCF-7	breast:
16	chr9:100744956..100747904-chr9:100835369..100837055,2	K562	blood:
17	chr9:100395301..100398247-chr9:100745097..100747092,2	MCF-7	breast:
18	chr9:100744956..100747210-chr9:100835059..100837055,2	K562	blood:
19	chr9:100745249..100747545-chr9:100817221..100819862,3	K562	blood:
20	chr9:100437101..100439123-chr9:100743935..100746928,2	K562	blood:
21	chr9:100744716..100748585-chr9:100832900..100838437,10	MCF-7	breast:
22	chr17:66286131..66288526-chr9:100744742..100747480,2	MCF-7	breast:
23	chr6:86303002..86303617-chr9:100745459..100746459,2	Hela-S3	cervix:
24	chr9:100705963..100708319-chr9:100744697..100747203,2	MCF-7	breast:
25	chr9:100744384..100747791-chr9:101014978..101019057,4	MCF-7	breast:
26	chr11:1770145..1772134-chr9:100745405..100747751,2	MCF-7	breast:
27	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
28	chr9:100745634..100748414-chr9:100792592..100795011,2	MCF-7	breast:
29	chr9:100745588..100746574-chrX:153626316..153627256,2	Hela-S3	cervix:
30	chr9:100461133..100463354-chr9:100744707..100746870,2	MCF-7	breast:
31	chr9:100682507..100691249-chr9:100739828..100748095,35	MCF-7	breast:
32	chr9:100394431..100399065-chr9:100743200..100747046,6	K562	blood:
33	chr9:100743877..100746388-chr9:123637926..123639429,2	K562	blood:

Variant related genes	Relation type
ANP32B	TF binding region
ENSG00000214417	Chromatin interaction
ENSG00000173153	Chromatin interaction
ENSG00000136929	Chromatin interaction
ENSG00000266608	Chromatin interaction
ENSG00000238923	Chromatin interaction
ENSG00000111678	Chromatin interaction
ENSG00000095380	Chromatin interaction
ENSG00000056586	Chromatin interaction
ENSG00000201830	Chromatin interaction
ENSG00000136936	Chromatin interaction
ENSG00000133739	Chromatin interaction
ENSG00000129521	Chromatin interaction
ENSG00000136932	Chromatin interaction
ENSG00000231521	Chromatin interaction
ENSG00000136937	Chromatin interaction
ENSG00000108932	Chromatin interaction
ENSG00000147403	Chromatin interaction
ENSG00000119403	Chromatin interaction
ENSG00000136925	Chromatin interaction
ENSG00000165244	Chromatin interaction
ENSG00000212521	Chromatin interaction
ENSG00000095383	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000135317	Chromatin interaction
ENSG00000141337	Chromatin interaction
ENSG00000244242	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	chr9:100744000-100747800	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr9:100744200-100747800	Active TSS	Fetal Brain Female	brain
3	chr9:100744400-100747800	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
4	chr9:100744600-100747400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr9:100744600-100747400	Active TSS	Psoas Muscle	Psoas
6	chr9:100744600-100747400	Active TSS	Osteobl	bone
7	chr9:100744600-100747600	Active TSS	A549	lung
8	chr9:100744600-100747600	Active TSS	HSMMtube	muscle
9	chr9:100744600-100747600	Active TSS	NHDF-Ad	bronchial
10	chr9:100744600-100747800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr9:100744600-100747800	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr9:100744600-100747800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr9:100744600-100748000	Active TSS	Brain Angular Gyrus	brain
14	chr9:100744600-100748000	Active TSS	NHLF	lung
15	chr9:100744600-100748600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr9:100744800-100747200	Active TSS	Pancreas	Pancrea
17	chr9:100744800-100747400	Active TSS	Brain Anterior Caudate	brain
18	chr9:100744800-100747400	Active TSS	Stomach Mucosa	stomach
19	chr9:100744800-100747400	Active TSS	Stomach Smooth Muscle	stomach
20	chr9:100744800-100747400	Active TSS	K562	blood
21	chr9:100744800-100747600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr9:100744800-100747600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
23	chr9:100744800-100747600	Active TSS	Aorta	Aorta
24	chr9:100744800-100747600	Active TSS	Fetal Lung	lung
25	chr9:100744800-100747600	Active TSS	Gastric	stomach
26	chr9:100744800-100747600	Active TSS	Rectal Mucosa Donor 31	rectum
27	chr9:100744800-100747600	Active TSS	Rectal Smooth Muscle	rectum
28	chr9:100744800-100747600	Active TSS	Sigmoid Colon	Sigmoid Colon
29	chr9:100744800-100747600	Active TSS	Hela-S3	cervix
30	chr9:100744800-100747600	Active TSS	NHEK	skin
31	chr9:100744800-100747800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
32	chr9:100744800-100747800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr9:100744800-100747800	Active TSS	Brain Substantia Nigra	brain
34	chr9:100744800-100747800	Active TSS	Fetal Intestine Large	intestine
35	chr9:100744800-100747800	Active TSS	Small Intestine	intestine
36	chr9:100744800-100748000	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
37	chr9:100744800-100748000	Active TSS	Esophagus	oesophagus
38	chr9:100744800-100748000	Active TSS	Fetal Kidney	kidney
39	chr9:100744800-100748000	Active TSS	Right Atrium	heart
40	chr9:100744800-100748200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr9:100744800-100748400	Active TSS	HSMM	muscle
42	chr9:100745000-100746000	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
43	chr9:100745000-100746000	Active TSS	Brain Germinal Matrix	brain
44	chr9:100745000-100747200	Active TSS	HepG2	liver
45	chr9:100745000-100747400	Active TSS	H9 Cell Line	embryonic stem cell
46	chr9:100745000-100747400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr9:100745000-100747400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr9:100745000-100747400	Active TSS	Colon Smooth Muscle	Colon
49	chr9:100745000-100747400	Active TSS	Thymus	Thymus
50	chr9:100745000-100747400	Active TSS	Spleen	Spleen

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