Variant report

Variant	rs528367654
Chromosome Location	chr11:64110361-64110362
allele	A/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	TCF12	chr11:64109723-64110364	A549	lung:	n/a	n/a
2	PBX3	chr11:64109852-64110368	A549	lung:	n/a	n/a
3	CTCF	chr11:64109642-64110410	K562	blood:	n/a	chr11:64110186-64110199 chr11:64110321-64110334 chr11:64109679-64109688
4	MAX	chr11:64109531-64110422	A549	lung:	n/a	chr11:64110190-64110200
5	RFX5	chr11:64109905-64110403	Hela-S3	cervix:	n/a	n/a
6	RAD21	chr11:64109787-64110389	A549	lung:	n/a	n/a
7	MAZ	chr11:64109230-64111125	IMR90	lung:	n/a	chr11:64110190-64110200
8	SP4	chr11:64109727-64110380	H1-hESC	embryonic stem cell:	n/a	chr11:64110153-64110164
9	MAZ	chr11:64109851-64110564	K562	blood:	n/a	chr11:64110190-64110200
10	CTCF	chr11:64109537-64110485	A549	lung:	n/a	chr11:64110186-64110199 chr11:64110321-64110334 chr11:64109679-64109688
11	HDAC2	chr11:64109821-64110423	MCF-7	breast:	n/a	n/a
12	POLR2A	chr11:64109768-64110374	Hela-S3	cervix:	n/a	n/a
13	MAX	chr11:64109715-64110385	ECC-1	luminal epithelium:	n/a	chr11:64110190-64110200
14	HCFC1	chr11:64109630-64110615	Hela-S3	cervix:	n/a	n/a
15	MAZ	chr11:64110018-64110399	GM12878	blood:	n/a	chr11:64110190-64110200
16	FOXM1	chr11:64109854-64110372	GM12878	blood:	n/a	n/a
17	POLR2A	chr11:64109646-64110382	H1-hESC	embryonic stem cell:	n/a	n/a
18	IRF1	chr11:64109942-64110605	K562	blood:	n/a	chr11:64110172-64110186
19	POLR2A	chr11:64109495-64110395	K562	blood:	n/a	n/a
20	MAX	chr11:64109723-64110405	MCF-7	breast:	n/a	chr11:64110190-64110200
21	POLR2A	chr11:64109822-64110369	SK-N-MC	brain:	n/a	n/a
22	SP1	chr11:64109845-64110403	H1-hESC	embryonic stem cell:	n/a	chr11:64110192-64110201 chr11:64110172-64110184 chr11:64110172-64110184 chr11:64110174-64110183 chr11:64110193-64110202 chr11:64110174-64110183 chr11:64110153-64110164 chr11:64110173-64110182
23	MAX	chr11:64109636-64110394	A549	lung:	n/a	chr11:64110190-64110200
24	SP4	chr11:64109777-64110519	H1-hESC	embryonic stem cell:	n/a	chr11:64110153-64110164
25	SP1	chr11:64109759-64110463	A549	lung:	n/a	chr11:64110192-64110201 chr11:64110172-64110184 chr11:64110172-64110184 chr11:64110174-64110183 chr11:64110193-64110202 chr11:64110174-64110183 chr11:64110153-64110164 chr11:64110173-64110182
26	TCF12	chr11:64109712-64110398	ECC-1	luminal epithelium:	n/a	n/a
27	MAZ	chr11:64109834-64110424	Hela-S3	cervix:	n/a	chr11:64110190-64110200
28	TAF1	chr11:64109831-64110374	A549	lung:	n/a	n/a
29	SP1	chr11:64109781-64110468	A549	lung:	n/a	chr11:64110192-64110201 chr11:64110172-64110184 chr11:64110172-64110184 chr11:64110174-64110183 chr11:64110193-64110202 chr11:64110174-64110183 chr11:64110153-64110164 chr11:64110173-64110182

No.	Distal block	Cell Line	Cell type
1	chr11:64109881..64111855-chr11:64133926..64136409,2	K562	blood:
2	chr11:64001193..64003368-chr11:64108712..64111498,2	MCF-7	breast:
3	chr11:64108003..64110489-chr11:64126101..64127976,2	MCF-7	breast:
4	chr11:64008607..64011562-chr11:64108610..64113296,4	MCF-7	breast:
5	chr10:74450774..74453542-chr11:64109200..64111337,2	MCF-7	breast:
6	chr11:64078839..64083408-chr11:64108257..64111409,4	MCF-7	breast:
7	chr11:63951267..63954594-chr11:64105049..64110612,5	MCF-7	breast:
8	chr11:64083618..64086276-chr11:64108878..64111761,4	K562	blood:
9	chr11:64109881..64112376-chr11:64133926..64136409,3	K562	blood:
10	chr11:64072715..64075742-chr11:64108562..64111155,5	MCF-7	breast:
11	chr11:64035871..64037932-chr11:64108620..64111379,2	K562	blood:
12	chr11:64109644..64110611-chr6:2999990..3000529,2	Hela-S3	cervix:
13	chr11:63972230..63976425-chr11:64106710..64112651,7	K562	blood:
14	chr11:64036423..64038929-chr11:64108620..64112959,5	K562	blood:
15	chr11:64109671..64110552-chr11:64122307..64123186,2	K562	blood:
16	chr11:64109688..64110714-chr11:64122196..64123136,4	MCF-7	breast:
17	chr11:64109106..64114264-chr11:64115033..64120054,6	MCF-7	breast:
18	chr11:64070411..64072227-chr11:64108642..64111595,2	MCF-7	breast:
19	chr11:64068655..64075946-chr11:64105786..64111623,11	K562	blood:
20	chr11:64085064..64087232-chr11:64106469..64111767,5	MCF-7	breast:
21	chr11:64108620..64111741-chr11:64119418..64122798,4	MCF-7	breast:

Variant related genes	Relation type
CCDC88B	TF binding region
ENSG00000221273	Chromatin interaction
ENSG00000173486	Chromatin interaction
ENSG00000162302	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000168439	Chromatin interaction
ENSG00000256116	Chromatin interaction
ENSG00000219435	Chromatin interaction
ENSG00000173113	Chromatin interaction
ENSG00000156026	Chromatin interaction
ENSG00000124588	Chromatin interaction
ENSG00000173511	Chromatin interaction
ENSG00000173264	Chromatin interaction
ENSG00000168071	Chromatin interaction
ENSG00000126432	Chromatin interaction
ENSG00000173153	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897631	chr11:63664882-64129722	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	254 gene(s)	inside rSNPs	diseases
2	esv1802079	chr11:63746066-64151373	Bivalent Enhancer Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	247 gene(s)	inside rSNPs	diseases
3	nsv897646	chr11:63754986-64150370	Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1035875	chr11:63800238-64132030	Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	234 gene(s)	inside rSNPs	diseases
5	nsv897660	chr11:63860826-64125142	Weak transcription Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	231 gene(s)	inside rSNPs	diseases
6	nsv897661	chr11:63863405-64129722	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	233 gene(s)	inside rSNPs	diseases
7	nsv897662	chr11:63889749-64150370	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
8	nsv897664	chr11:63919742-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	237 gene(s)	inside rSNPs	diseases
9	nsv869944	chr11:63932152-64123062	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
10	nsv897671	chr11:63964657-64150370	Active TSS Flanking Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	179 gene(s)	inside rSNPs	diseases
11	nsv832186	chr11:63972260-64170059	Active TSS Genic enhancers Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	180 gene(s)	inside rSNPs	diseases
12	esv1802320	chr11:63987425-64154633	Active TSS Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Strong transcription 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	178 gene(s)	inside rSNPs	diseases
13	nsv897679	chr11:63994692-64150370	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	169 gene(s)	inside rSNPs	diseases
14	nsv897682	chr11:63999529-64170500	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	164 gene(s)	inside rSNPs	diseases
15	nsv1043277	chr11:64002997-64132030	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
16	nsv897685	chr11:64048912-64150370	Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
17	nsv555192	chr11:64097233-64111928	Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	n/a
18	nsv818840	chr11:64097233-64125142	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	33 gene(s)	inside rSNPs	diseases
19	nsv818841	chr11:64097233-64129722	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
20	nsv555193	chr11:64107143-64120574	Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	22 gene(s)	inside rSNPs	diseases
21	nsv897688	chr11:64107735-64150370	Weak transcription Strong transcription Flanking Active TSS Enhancers Bivalent/Poised TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
22	esv3371829	chr11:64108901-64111749	Genic enhancers Flanking Active TSS Weak transcription Enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA	19 gene(s)	inside rSNPs	n/a
23	nsv897689	chr11:64109118-64148420	Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
24	esv3322945	chr11:64110026-64111024	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64106800-64110400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
2	chr11:64108000-64110400	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:64108000-64110800	Enhancers	Lung	lung
4	chr11:64108200-64111200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr11:64108200-64111800	Enhancers	Placenta	Placenta
6	chr11:64108400-64110400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
7	chr11:64108600-64110800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
8	chr11:64108600-64110800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr11:64108600-64111000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr11:64108800-64111000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr11:64108800-64111600	Genic enhancers	Primary B cells from peripheral blood	blood
12	chr11:64108800-64111600	Genic enhancers	Spleen	Spleen
13	chr11:64109000-64110800	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr11:64109000-64110800	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr11:64109600-64110400	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:64109600-64110400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr11:64109600-64110400	Active TSS	iPS-20b Cell Line	embryonic stem cell
18	chr11:64109600-64110400	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr11:64109600-64110800	Bivalent Enhancer	Fetal Brain Male	brain
20	chr11:64109600-64111000	Enhancers	Liver	Liver
21	chr11:64109600-64111400	Enhancers	Gastric	stomach
22	chr11:64109800-64110400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr11:64109800-64110400	Active TSS	HUES48 Cell Line	embryonic stem cell
24	chr11:64109800-64110400	Active TSS	iPS-18 Cell Line	embryonic stem cell
25	chr11:64109800-64110400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
26	chr11:64109800-64110400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr11:64109800-64110400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr11:64109800-64110400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr11:64109800-64110400	Active TSS	Colon Smooth Muscle	Colon
30	chr11:64109800-64110400	Active TSS	Psoas Muscle	Psoas
31	chr11:64109800-64110400	Transcr. at gene 5' and 3'	Right Atrium	heart
32	chr11:64109800-64110600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr11:64109800-64110600	Active TSS	HUES6 Cell Line	embryonic stem cell
34	chr11:64109800-64110600	Active TSS	Ovary	ovary
35	chr11:64109800-64111000	Active TSS	iPS-15b Cell Line	embryonic stem cell
36	chr11:64110000-64110400	Active TSS	H1 Cell Line	embryonic stem cell
37	chr11:64110000-64110400	Active TSS	Primary T helper naive cells fromperipheralblood	blood
38	chr11:64110000-64110400	Active TSS	Muscle Satellite Cultured Cells	--
39	chr11:64110000-64110400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr11:64110000-64110400	Active TSS	Brain Anterior Caudate	brain
41	chr11:64110000-64110400	Active TSS	Brain Germinal Matrix	brain
42	chr11:64110000-64110400	Active TSS	Brain Inferior Temporal Lobe	brain
43	chr11:64110000-64110400	Active TSS	Duodenum Mucosa	Duodenum
44	chr11:64110000-64110400	Active TSS	Duodenum Smooth Muscle	Duodenum
45	chr11:64110000-64110400	Active TSS	Fetal Brain Female	brain
46	chr11:64110000-64110400	Active TSS	Fetal Intestine Small	intestine
47	chr11:64110000-64110400	Active TSS	Left Ventricle	heart
48	chr11:64110000-64110400	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr11:64110000-64110400	Active TSS	Rectal Smooth Muscle	rectum
50	chr11:64110000-64110400	Active TSS	Right Ventricle	heart

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