Variant report

Variant	rs563697375
Chromosome Location	chr11:66886782-66886783
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	YY1	chr11:66886573-66887061	K562	blood:	n/a	chr11:66886754-66886762 chr11:66886748-66886767 chr11:66886743-66886765 chr11:66886755-66886765 chr11:66886747-66886767 chr11:66886753-66886765 chr11:66886755-66886765
2	CHD2	chr11:66886031-66886946	GM12878	blood:	n/a	chr11:66886392-66886402
3	SIN3AK20	chr11:66886509-66886859	PFSK-1	brain:	n/a	n/a
4	PML	chr11:66886577-66887013	MCF-7	breast:	n/a	n/a
5	POLR2A	chr11:66886650-66887441	GM12892	blood:	n/a	n/a
6	TBP	chr11:66886612-66886937	HepG2	liver:	n/a	n/a
7	HA-E2F1	chr11:66886325-66887381	Hela-S3	cervix:	n/a	chr11:66886354-66886368 chr11:66886699-66886708 chr11:66886761-66886771 chr11:66886552-66886561 chr11:66887262-66887271 chr11:66886387-66886396
8	TCF12	chr11:66886516-66887085	ECC-1	luminal epithelium:	n/a	n/a
9	MXI1	chr11:66886414-66886938	GM12878	blood:	n/a	n/a
10	EGR1	chr11:66886185-66886993	ECC-1	luminal epithelium:	n/a	chr11:66886553-66886562 chr11:66886655-66886668 chr11:66886275-66886288 chr11:66886552-66886561 chr11:66886595-66886604 chr11:66886596-66886605 chr11:66886439-66886453 chr11:66886654-66886669 chr11:66886699-66886708 chr11:66886387-66886396 chr11:66886355-66886365
11	RELA	chr11:66886461-66887799	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:66886638-66886914	HCT-116	colon:	n/a	n/a
13	FOXA2	chr11:66886271-66886869	A549	lung:	n/a	n/a
14	YY1	chr11:66886566-66886988	NT2-D1	testis:	n/a	chr11:66886754-66886762 chr11:66886748-66886767 chr11:66886743-66886765 chr11:66886755-66886765 chr11:66886747-66886767 chr11:66886753-66886765 chr11:66886755-66886765
15	MAZ	chr11:66886215-66886798	HepG2	liver:	n/a	n/a
16	CHD2	chr11:66886093-66886960	Hela-S3	cervix:	n/a	chr11:66886392-66886402
17	YY1	chr11:66886441-66887082	ECC-1	luminal epithelium:	n/a	chr11:66886754-66886762 chr11:66886748-66886767 chr11:66886743-66886765 chr11:66886755-66886765 chr11:66886747-66886767 chr11:66886753-66886765 chr11:66886755-66886765
18	CREB1	chr11:66886172-66886870	H1-hESC	embryonic stem cell:	n/a	n/a
19	YY1	chr11:66886554-66887031	GM12892	blood:	n/a	chr11:66886754-66886762 chr11:66886748-66886767 chr11:66886743-66886765 chr11:66886755-66886765 chr11:66886747-66886767 chr11:66886753-66886765 chr11:66886755-66886765
20	TAF1	chr11:66886550-66887018	PFSK-1	brain:	n/a	n/a
21	MAX	chr11:66886012-66886862	MCF-7	breast:	n/a	chr11:66886120-66886129
22	REST	chr11:66886589-66887014	A549	lung:	n/a	chr11:66886843-66886851 chr11:66886613-66886626
23	POLR2A	chr11:66886471-66886991	K562	blood:	n/a	n/a
24	YY1	chr11:66886287-66887488	GM12878	blood:	n/a	chr11:66886754-66886762 chr11:66887265-66887274 chr11:66886748-66886767 chr11:66886743-66886765 chr11:66886755-66886765 chr11:66886747-66886767 chr11:66886753-66886765 chr11:66886755-66886765
25	TBP	chr11:66886509-66886907	H1-hESC	embryonic stem cell:	n/a	n/a
26	RCOR1	chr11:66886457-66886935	GM12878	blood:	n/a	n/a
27	MAZ	chr11:66886245-66887735	Hela-S3	cervix:	n/a	chr11:66887263-66887273
28	YY1	chr11:66886265-66887420	K562	blood:	n/a	chr11:66886754-66886762 chr11:66887265-66887274 chr11:66886748-66886767 chr11:66886743-66886765 chr11:66886755-66886765 chr11:66886747-66886767 chr11:66886753-66886765 chr11:66886755-66886765
29	JUND	chr11:66886342-66886867	K562	blood:	n/a	n/a
30	EGR1	chr11:66886140-66886950	MCF-7	breast:	n/a	chr11:66886553-66886562 chr11:66886655-66886668 chr11:66886275-66886288 chr11:66886552-66886561 chr11:66886595-66886604 chr11:66886596-66886605 chr11:66886439-66886453 chr11:66886654-66886669 chr11:66886699-66886708 chr11:66886387-66886396 chr11:66886355-66886365
31	REST	chr11:66886544-66887097	HL-60	blood:	n/a	chr11:66886843-66886851 chr11:66886613-66886626
32	YY1	chr11:66886450-66887304	GM12878	blood:	n/a	chr11:66886754-66886762 chr11:66887265-66887274 chr11:66886748-66886767 chr11:66886743-66886765 chr11:66886755-66886765 chr11:66886747-66886767 chr11:66886753-66886765 chr11:66886755-66886765
33	POLR2A	chr11:66886609-66886984	IMR90	lung:	n/a	n/a
34	TAF1	chr11:66886465-66886967	Hela-S3	cervix:	n/a	n/a
35	NRF1	chr11:66886187-66886898	GM12878	blood:	n/a	chr11:66886386-66886395 chr11:66886553-66886562 chr11:66886386-66886397 chr11:66886383-66886397 chr11:66886386-66886400 chr11:66886551-66886565 chr11:66886700-66886709 chr11:66886548-66886562 chr11:66886596-66886605 chr11:66886594-66886605 chr11:66886698-66886709 chr11:66886698-66886709 chr11:66886698-66886712 chr11:66886360-66886369 chr11:66886551-66886562
36	YY1	chr11:66886515-66887118	ECC-1	luminal epithelium:	n/a	chr11:66886754-66886762 chr11:66886748-66886767 chr11:66886743-66886765 chr11:66886755-66886765 chr11:66886747-66886767 chr11:66886753-66886765 chr11:66886755-66886765
37	MAZ	chr11:66885004-66887904	IMR90	lung:	n/a	chr11:66886120-66886129 chr11:66886002-66886011 chr11:66887263-66887273
38	TAF1	chr11:66886557-66887009	H1-neurons	neurons:	n/a	n/a
39	CHD1	chr11:66886631-66887341	GM12878	blood:	n/a	n/a
40	POLR2A	chr11:66886297-66887058	Gliobla	brain:	n/a	n/a
41	POLR2A	chr11:66886140-66887322	Raji	blood:	n/a	n/a
42	YY1	chr11:66886469-66887304	GM12891	blood:	n/a	chr11:66886754-66886762 chr11:66887265-66887274 chr11:66886748-66886767 chr11:66886743-66886765 chr11:66886755-66886765 chr11:66886747-66886767 chr11:66886753-66886765 chr11:66886755-66886765
43	ZKSCAN1	chr11:66886572-66886795	Hela-S3	cervix:	n/a	n/a
44	ELF1	chr11:66886290-66887057	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:66885239-66886986	GM18526	blood:	n/a	n/a
46	POLR2A	chr11:66886436-66887021	H1-hESC	embryonic stem cell:	n/a	n/a
47	CHD2	chr11:66886752-66886919	HepG2	liver:	n/a	n/a
48	RELA	chr11:66886422-66886979	GM15510	blood:	n/a	n/a
49	POLR2A	chr11:66886536-66886969	ECC-1	luminal epithelium:	n/a	n/a
50	BHLHE40	chr11:66886076-66886938	GM12878	blood:	n/a	chr11:66886386-66886402

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:66886765-66886815	PrEC	prostate:	n/a
2	chr11:66886765-66886815	T-47D	breast:	n/a
3	chr11:66886748-66886798	HEEpiC	esophagus:	n/a
4	chr11:66886748-66886798	SK-N-SH	brain:	n/a
5	chr11:66886765-66886815	HCM	heart:	n/a
6	chr11:66886765-66886815	NB4	blood:	n/a
7	chr11:66886748-66886798	NB4	blood:	n/a
8	chr11:66886748-66886798	NHDF-neo	bronchial:	n/a
9	chr11:66886748-66886798	A549	lung:	n/a
10	chr11:66886748-66886798	GM12878	blood:	n/a
11	chr11:66886765-66886815	U87	brain:	n/a
12	chr11:66886765-66886815	NT2-D1	testis:	n/a
13	chr11:66886748-66886798	PrEC	prostate:	n/a
14	chr11:66886748-66886798	HL-60	blood:	n/a
15	chr11:66886748-66886798	GM19239	blood:	n/a
16	chr11:66886765-66886815	GM12892	blood:	n/a
17	chr11:66886748-66886798	AG04449	skin:	fetal
18	chr11:66886748-66886798	HCPEpiC	choroid plexus:	n/a
19	chr11:66886765-66886815	HCPEpiC	choroid plexus:	n/a
20	chr11:66886765-66886815	BE2_C	brain:	n/a
21	chr11:66886748-66886798	ECC-1	luminal epithelium:	n/a
22	chr11:66886765-66886815	BJ	skin:	n/a
23	chr11:66886748-66886798	AG10803	skin:	n/a
24	chr11:66886748-66886798	GM06990	blood:	n/a
25	chr11:66886748-66886798	K562	blood:	n/a
26	chr11:66886748-66886798	HUVEC	blood vessel:	n/a
27	chr11:66886765-66886815	HepG2	liver:	n/a
28	chr11:66886748-66886798	AG09309	skin:	n/a
29	chr11:66886748-66886798	Hela-S3	cervix:	n/a
30	chr11:66886765-66886815	ECC-1	luminal epithelium:	n/a
31	chr11:66886748-66886798	AG09319	gingival:	n/a
32	chr11:66886748-66886798	SKMC	muscle:	n/a
33	chr11:66886765-66886815	HRCEpiC	kidney:	n/a
34	chr11:66886765-66886815	ovcar-3	ovarian:	n/a
35	chr11:66886748-66886798	RPTEC	kidney:	n/a
36	chr11:66886765-66886815	GM12878	blood:	n/a
37	chr11:66886748-66886798	T-47D	breast:	n/a
38	chr11:66886765-66886815	SKMC	muscle:	n/a
39	chr11:66886748-66886798	Hepatocyte	liver:	n/a
40	chr11:66886748-66886798	SK-N-SH_RA	brain:	n/a
41	chr11:66886765-66886815	MCF10A-Er-Src	breast:	n/a
42	chr11:66886748-66886798	AoSMC	blood vessel:	n/a
43	chr11:66886748-66886798	HRPEpiC	eye:	n/a
44	chr11:66886765-66886815	GM19239	blood:	n/a
45	chr11:66886748-66886798	Caco-2	colon:	n/a
46	chr11:66886748-66886798	PFSK-1	brain:	n/a
47	chr11:66886748-66886798	CMK	blood:	n/a
48	chr11:66886765-66886815	AoSMC	blood vessel:	n/a
49	chr11:66886765-66886815	PFSK-1	brain:	n/a
50	chr11:66886765-66886815	Jurkat	blood:	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66885940..66887950-chr11:67395860..67397869,2	K562	blood:
2	chr11:66885437..66888305-chr11:67055921..67058495,2	MCF-7	breast:
3	chr11:66821625..66825972-chr11:66885437..66888104,7	MCF-7	breast:
4	chr11:66885002..66889173-chr11:67005085..67009324,11	K562	blood:
5	chr11:66884916..66890908-chr11:67005112..67010354,8	MCF-7	breast:
6	chr11:66886604..66887153-chr17:19551576..19552186,2	NB4	blood:
7	chr11:66886660..66888352-chr11:67075399..67077454,2	K562	blood:
8	chr11:66821404..66826403-chr11:66884710..66889541,16	MCF-7	breast:
9	chr11:66883623..66889678-chr11:67005085..67009894,16	K562	blood:

Variant related genes	Relation type
KDM2A	TF binding region
KDM2A	CpG island
ENSG00000167799	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000072210	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000173120	Chromatin interaction
ENSG00000172932	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	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	esv3412807	chr11:66884326-66888124	Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	esv3397435	chr11:66884601-66887149	Active TSS Flanking Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
5	esv3400268	chr11:66884676-66888099	Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv3328460	chr11:66884901-66888249	Enhancers Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 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	chr11:66881000-66886800	Weak transcription	K562	blood
2	chr11:66884800-66888800	Active TSS	Rectal Mucosa Donor 29	rectum
3	chr11:66884800-66889200	Active TSS	Duodenum Smooth Muscle	Duodenum
4	chr11:66885000-66886800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr11:66885000-66887200	Weak transcription	Fetal Brain Male	brain
6	chr11:66885000-66888600	Active TSS	Brain Substantia Nigra	brain
7	chr11:66885000-66888800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr11:66885000-66888800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
9	chr11:66885000-66889000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:66885000-66889000	Active TSS	Lung	lung
11	chr11:66885000-66889000	Active TSS	Osteobl	bone
12	chr11:66885000-66889200	Active TSS	ES-I3 Cell Line	embryonic stem cell
13	chr11:66885000-66889600	Active TSS	Psoas Muscle	Psoas
14	chr11:66885000-66889800	Active TSS	Fetal Brain Female	brain
15	chr11:66885000-66889800	Active TSS	Pancreatic Islets	Pancreatic Islet
16	chr11:66885200-66886800	Weak transcription	Fetal Kidney	kidney
17	chr11:66885200-66887400	Weak transcription	Fetal Heart	heart
18	chr11:66885200-66887600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:66885200-66887800	Active TSS	Spleen	Spleen
20	chr11:66885200-66888000	Active TSS	Primary T cells from cord blood	blood
21	chr11:66885200-66888400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr11:66885200-66888400	Active TSS	Brain Cingulate Gyrus	brain
23	chr11:66885200-66888400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr11:66885200-66888600	Active TSS	Duodenum Mucosa	Duodenum
25	chr11:66885200-66888600	Active TSS	Rectal Mucosa Donor 31	rectum
26	chr11:66885200-66888800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr11:66885200-66888800	Active TSS	Esophagus	oesophagus
28	chr11:66885200-66888800	Active TSS	Gastric	stomach
29	chr11:66885200-66889000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
30	chr11:66885200-66889000	Active TSS	H9 Cell Line	embryonic stem cell
31	chr11:66885200-66889000	Active TSS	Brain Angular Gyrus	brain
32	chr11:66885200-66889000	Active TSS	Colon Smooth Muscle	Colon
33	chr11:66885200-66889000	Active TSS	Placenta Amnion	Placenta Amnion
34	chr11:66885200-66889200	Active TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:66885200-66889200	Active TSS	iPS-20b Cell Line	embryonic stem cell
36	chr11:66885200-66889200	Active TSS	Skeletal Muscle Male	skeletal muscle
37	chr11:66885200-66889400	Active TSS	HUES48 Cell Line	embryonic stem cell
38	chr11:66885200-66889400	Active TSS	Primary T helper naive cells from peripheral blood	blood
39	chr11:66885200-66889400	Active TSS	Brain Hippocampus Middle	brain
40	chr11:66885200-66889600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
41	chr11:66885200-66889600	Active TSS	Ovary	ovary
42	chr11:66885200-66889800	Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr11:66885200-66889800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr11:66885200-66890000	Active TSS	HUES6 Cell Line	embryonic stem cell
45	chr11:66885200-66890000	Active TSS	HSMM	muscle
46	chr11:66885200-66890400	Active TSS	Brain Germinal Matrix	brain
47	chr11:66885200-66890600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr11:66885400-66886800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr11:66885400-66886800	Active TSS	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:66885400-66886800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin

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