Variant report

Variant	rs571886328
Chromosome Location	chr9:100744972-100744973
allele	C/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	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	JUND	chr9:100744958-100745740	MCF-7	breast:	n/a	chr9:100745695-100745704
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	SMC3	chr9:100744905-100745735	Hela-S3	cervix:	n/a	n/a
14	POLR2A	chr9:100744894-100747814	GM18526	blood:	n/a	n/a
15	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
16	E2F6	chr9:100744815-100746295	A549	lung:	n/a	chr9:100745713-100745722 chr9:100746030-100746039 chr9:100746201-100746210 chr9:100745233-100745245 chr9:100745426-100745433
17	POLR2A	chr9:100744872-100747815	GM12892	blood:	n/a	n/a
18	REST	chr9:100744826-100746130	HL-60	blood:	n/a	chr9:100746036-100746049
19	SMARCB1	chr9:100744665-100747777	Hela-S3	cervix:	n/a	n/a
20	MYC	chr9:100744970-100744987	GM12878	blood:	n/a	n/a
21	POLR2A	chr9:100742705-100747942	PBDE	blood:	n/a	n/a
22	TEAD4	chr9:100744525-100744978	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr9:100744949-100747863	NB4	blood:	n/a	n/a
24	EP300	chr9:100744884-100745897	ECC-1	luminal epithelium:	n/a	chr9:100745603-100745619 chr9:100745716-100745725 chr9:100745694-100745703
25	E2F4	chr9:100744972-100745128	GM12878	blood:	n/a	n/a
26	WRNIP1	chr9:100744965-100744990	GM12878	blood:	n/a	n/a
27	POLR2A	chr9:100744717-100747928	GM12892	blood:	n/a	n/a
28	CHD2	chr9:100744895-100747790	Hela-S3	cervix:	n/a	chr9:100747607-100747617 chr9:100747760-100747770 chr9:100745426-100745433 chr9:100746427-100746437
29	MXI1	chr9:100742672-100749207	SK-N-SH	brain:	n/a	chr9:100742948-100742963 chr9:100747897-100747906
30	POLR2A	chr9:100744931-100747839	HepG2	liver:	n/a	n/a
31	MXI1	chr9:100744822-100745662	Hela-S3	cervix:	n/a	n/a
32	POLR2A	chr9:100744634-100747532	PFSK-1	brain:	n/a	n/a
33	TCF7L2	chr9:100744933-100745754	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr9:100744767-100747982	GM12892	blood:	n/a	n/a
35	ZBTB7A	chr9:100744822-100746672	ECC-1	luminal epithelium:	n/a	n/a
36	POLR2A	chr9:100744839-100747941	GM19099	blood:	n/a	n/a
37	MTA3	chr9:100744605-100746379	GM12878	blood:	n/a	n/a
38	CHD2	chr9:100744961-100746207	GM12878	blood:	n/a	chr9:100745426-100745433
39	MAX	chr9:100744843-100745825	ECC-1	luminal epithelium:	n/a	chr9:100745050-100745060 chr9:100745365-100745374 chr9:100745284-100745293 chr9:100745379-100745386 chr9:100745376-100745385
40	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
41	POLR2A	chr9:100744502-100748027	GM18505	blood:	n/a	n/a
42	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
43	POLR2A	chr9:100744763-100747976	Hela-S3	cervix:	n/a	n/a
44	POLR2A	chr9:100744766-100747975	GM12892	blood:	n/a	n/a
45	POLR2A	chr9:100744888-100747282	SK-N-SH	brain:	n/a	n/a
46	HDAC2	chr9:100744846-100745843	MCF-7	breast:	n/a	n/a
47	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
48	POLR2A	chr9:100744902-100745077	H1-hESC	embryonic stem cell:	n/a	n/a
49	POLR2A	chr9:100743342-100749363	K562	blood:	n/a	n/a
50	POLR2A	chr9:100744571-100745180	H1-hESC	embryonic stem cell:	n/a	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	chr9:100743079..100747890-chr9:100817276..100822371,7	K562	blood:
5	chr9:100682029..100688801-chr9:100740969..100749393,29	MCF-7	breast:
6	chr9:100742340..100750312-chr9:100816953..100823782,17	MCF-7	breast:
7	chr14:34417944..34420786-chr9:100744880..100747851,2	MCF-7	breast:
8	chr9:100685626..100686321-chr9:100744853..100745599,2	MCF-7	breast:
9	chr9:100393798..100396909-chr9:100744219..100748139,5	MCF-7	breast:
10	chr9:100744956..100747904-chr9:100835369..100837055,2	K562	blood:
11	chr9:100744956..100747210-chr9:100835059..100837055,2	K562	blood:
12	chr9:100437101..100439123-chr9:100743935..100746928,2	K562	blood:
13	chr9:100744716..100748585-chr9:100832900..100838437,10	MCF-7	breast:
14	chr17:66286131..66288526-chr9:100744742..100747480,2	MCF-7	breast:
15	chr9:100705963..100708319-chr9:100744697..100747203,2	MCF-7	breast:
16	chr9:100744384..100747791-chr9:101014978..101019057,4	MCF-7	breast:
17	chr9:100395236..100396868-chr9:100743200..100745382,2	K562	blood:
18	chr9:100678422..100708679-chr9:100734559..100755577,174	K562	blood:
19	chr9:100461133..100463354-chr9:100744707..100746870,2	MCF-7	breast:
20	chr9:100682507..100691249-chr9:100739828..100748095,35	MCF-7	breast:
21	chr9:100394431..100399065-chr9:100743200..100747046,6	K562	blood:
22	chr9:100743877..100746388-chr9:123637926..123639429,2	K562	blood:

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

Extended variants
information (count: 5 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:5 , 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

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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