Variant report

Variant	rs532039802
Chromosome Location	chr11:66887403-66887404
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	POLR2A	chr11:66886650-66887441	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:66887329-66888912	GM12891	blood:	n/a	n/a
3	RELA	chr11:66886461-66887799	GM12891	blood:	n/a	n/a
4	MTA3	chr11:66887229-66887906	GM12878	blood:	n/a	n/a
5	MAFK	chr11:66887342-66888830	Hela-S3	cervix:	n/a	chr11:66887356-66887365
6	MYC	chr11:66887084-66887739	K562	blood:	n/a	chr11:66887263-66887273
7	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
8	MAZ	chr11:66886245-66887735	Hela-S3	cervix:	n/a	chr11:66887263-66887273
9	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
10	MAZ	chr11:66885004-66887904	IMR90	lung:	n/a	chr11:66886120-66886129 chr11:66886002-66886011 chr11:66887263-66887273
11	RCOR1	chr11:66887122-66887692	K562	blood:	n/a	n/a
12	SIN3AK20	chr11:66887339-66887820	PANC-1	pancreas:	n/a	n/a
13	TBL1XR1	chr11:66887222-66887489	K562	blood:	n/a	n/a
14	ZBTB7A	chr11:66886026-66887546	ECC-1	luminal epithelium:	n/a	chr11:66887292-66887301 chr11:66887025-66887033
15	CHD2	chr11:66887253-66887728	Hela-S3	cervix:	n/a	chr11:66887530-66887540
16	TBL1XR1	chr11:66887357-66888002	K562	blood:	n/a	n/a
17	SIN3AK20	chr11:66886404-66887511	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr11:66886308-66887669	K562	blood:	n/a	n/a
19	TBP	chr11:66887348-66888943	Hela-S3	cervix:	n/a	n/a
20	POLR2A	chr11:66887268-66887932	SK-N-MC	brain:	n/a	n/a
21	ZBTB7A	chr11:66885950-66887409	K562	blood:	n/a	chr11:66887292-66887301 chr11:66887025-66887033 chr11:66886008-66886015
22	MAX	chr11:66887211-66888685	Hela-S3	cervix:	n/a	chr11:66887263-66887273
23	EGR1	chr11:66887065-66887418	K562	blood:	n/a	chr11:66887262-66887272 chr11:66887263-66887276
24	GATA1	chr11:66887164-66888816	PBDE	blood:	n/a	chr11:66888142-66888151
25	CHD1	chr11:66887244-66888120	H1-hESC	embryonic stem cell:	n/a	chr11:66887530-66887540
26	SIN3A	chr11:66885690-66887976	H1-hESC	embryonic stem cell:	n/a	chr11:66886856-66886867 chr11:66886721-66886729
27	UBTF	chr11:66886735-66888333	K562	blood:	n/a	n/a
28	PML	chr11:66887371-66888924	GM12878	blood:	n/a	chr11:66888588-66888596
29	ZKSCAN1	chr11:66887265-66887646	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr11:66887219-66887481	GM12878	blood:	n/a	n/a
31	MAX	chr11:66887051-66887414	K562	blood:	n/a	chr11:66887263-66887273
32	SIN3AK20	chr11:66886284-66888959	MCF-7	breast:	n/a	n/a
33	MAZ	chr11:66887385-66887725	GM12878	blood:	n/a	n/a
34	UBTF	chr11:66886478-66888872	K562	blood:	n/a	n/a
35	MXI1	chr11:66886462-66888303	IMR90	lung:	n/a	n/a
36	ZBTB7A	chr11:66886701-66887785	ECC-1	luminal epithelium:	n/a	chr11:66887292-66887301 chr11:66887025-66887033
37	POLR2A	chr11:66885923-66887424	MCF-7	breast:	n/a	n/a
38	CCNT2	chr11:66886279-66887780	K562	blood:	n/a	chr11:66886684-66886693 chr11:66886310-66886319 chr11:66886652-66886661 chr11:66887530-66887539
39	POLR2A	chr11:66887393-66887446	Hela-S3	cervix:	n/a	n/a
40	YY1	chr11:66886262-66887458	HepG2	liver:	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
41	SIN3AK20	chr11:66886273-66888004	PANC-1	pancreas:	n/a	n/a
42	TAF1	chr11:66887369-66887757	SK-N-SH	brain:	n/a	n/a
43	RCOR1	chr11:66887348-66888108	Hela-S3	cervix:	n/a	n/a
44	MAZ	chr11:66886187-66887845	K562	blood:	n/a	chr11:66887263-66887273
45	SMARCB1	chr11:66886469-66887849	Hela-S3	cervix:	n/a	n/a
46	BCLAF1	chr11:66886934-66887719	GM12878	blood:	n/a	chr11:66887150-66887163
47	POLR2A	chr11:66886457-66887423	K562	blood:	n/a	n/a
48	MAX	chr11:66887391-66887972	A549	lung:	n/a	n/a
49	YY1	chr11:66886271-66887434	GM12892	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
50	SIN3AK20	chr11:66886616-66887888	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:66885940..66887950-chr11:67395860..67397869,2	K562	blood:
2	chr11:66886805..66888356-chr20:52209357..52211197,2	MCF-7	breast:
3	chr11:66885437..66888305-chr11:67055921..67058495,2	MCF-7	breast:
4	chr11:66821625..66825972-chr11:66885437..66888104,7	MCF-7	breast:
5	chr11:66885002..66889173-chr11:67005085..67009324,11	K562	blood:
6	chr11:66884916..66890908-chr11:67005112..67010354,8	MCF-7	breast:
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:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-RHOD-4	chr11:66887362-66887520	NONHSAT022378

Variant related genes	Relation type
KDM2A	TF binding region
ENSG00000173120	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000172932	Chromatin interaction
ENSG00000172830	Chromatin interaction
ENSG00000171940	Chromatin interaction
ENSG00000167799	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	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	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
5	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	chr11:66884800-66888800	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr11:66884800-66889200	Active TSS	Duodenum Smooth Muscle	Duodenum
3	chr11:66885000-66888600	Active TSS	Brain Substantia Nigra	brain
4	chr11:66885000-66888800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:66885000-66888800	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr11:66885000-66889000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr11:66885000-66889000	Active TSS	Lung	lung
8	chr11:66885000-66889000	Active TSS	Osteobl	bone
9	chr11:66885000-66889200	Active TSS	ES-I3 Cell Line	embryonic stem cell
10	chr11:66885000-66889600	Active TSS	Psoas Muscle	Psoas
11	chr11:66885000-66889800	Active TSS	Fetal Brain Female	brain
12	chr11:66885000-66889800	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr11:66885200-66887600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr11:66885200-66887800	Active TSS	Spleen	Spleen
15	chr11:66885200-66888000	Active TSS	Primary T cells from cord blood	blood
16	chr11:66885200-66888400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr11:66885200-66888400	Active TSS	Brain Cingulate Gyrus	brain
18	chr11:66885200-66888400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
19	chr11:66885200-66888600	Active TSS	Duodenum Mucosa	Duodenum
20	chr11:66885200-66888600	Active TSS	Rectal Mucosa Donor 31	rectum
21	chr11:66885200-66888800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
22	chr11:66885200-66888800	Active TSS	Esophagus	oesophagus
23	chr11:66885200-66888800	Active TSS	Gastric	stomach
24	chr11:66885200-66889000	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:66885200-66889000	Active TSS	H9 Cell Line	embryonic stem cell
26	chr11:66885200-66889000	Active TSS	Brain Angular Gyrus	brain
27	chr11:66885200-66889000	Active TSS	Colon Smooth Muscle	Colon
28	chr11:66885200-66889000	Active TSS	Placenta Amnion	Placenta Amnion
29	chr11:66885200-66889200	Active TSS	iPS-18 Cell Line	embryonic stem cell
30	chr11:66885200-66889200	Active TSS	iPS-20b Cell Line	embryonic stem cell
31	chr11:66885200-66889200	Active TSS	Skeletal Muscle Male	skeletal muscle
32	chr11:66885200-66889400	Active TSS	HUES48 Cell Line	embryonic stem cell
33	chr11:66885200-66889400	Active TSS	Primary T helper naive cells from peripheral blood	blood
34	chr11:66885200-66889400	Active TSS	Brain Hippocampus Middle	brain
35	chr11:66885200-66889600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr11:66885200-66889600	Active TSS	Ovary	ovary
37	chr11:66885200-66889800	Active TSS	iPS-15b Cell Line	embryonic stem cell
38	chr11:66885200-66889800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr11:66885200-66890000	Active TSS	HUES6 Cell Line	embryonic stem cell
40	chr11:66885200-66890000	Active TSS	HSMM	muscle
41	chr11:66885200-66890400	Active TSS	Brain Germinal Matrix	brain
42	chr11:66885200-66890600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:66885400-66887600	Active TSS	Primary B cells from cord blood	blood
44	chr11:66885400-66887600	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
45	chr11:66885400-66887800	Active TSS	Primary B cells from peripheral blood	blood
46	chr11:66885400-66888000	Active TSS	Primary monocytes fromperipheralblood	blood
47	chr11:66885400-66888000	Active TSS	Primary neutrophils fromperipheralblood	blood
48	chr11:66885400-66888000	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr11:66885400-66888000	Active TSS	Primary T regulatory cells fromperipheralblood	blood
50	chr11:66885400-66888000	Active TSS	Adipose Nuclei	Adipose

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