Variant report

Variant	rs72932293
Chromosome Location	chr11:63584293-63584294
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:11)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:11 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:63584033-63584458	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:63584085-63584444	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:63583278-63584403	GM12892	blood:	n/a	n/a
4	POLR2A	chr11:63584178-63584416	K562	blood:	n/a	n/a
5	POLR2A	chr11:63584067-63584406	H1-hESC	embryonic stem cell:	n/a	n/a
6	POLR2A	chr11:63583297-63584803	GM12878	blood:	n/a	n/a
7	POLR2A	chr11:63583524-63584447	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:63583731-63584338	K562	blood:	n/a	n/a
9	POLR2A	chr11:63583447-63584300	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr11:63584143-63584513	H1-hESC	embryonic stem cell:	n/a	n/a
11	POLR2A	chr11:63583234-63584587	HepG2	liver:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:63579552..63584409-chr11:63604789..63609677,6	K562	blood:
2	chr11:63582446..63585592-chr11:63592203..63594925,4	K562	blood:
3	chr11:63532131..63538052-chr11:63579345..63585604,10	K562	blood:
4	chr11:63583415..63585834-chr11:63596910..63599617,2	K562	blood:
5	chr11:63583208..63585692-chr11:63586410..63588060,2	MCF-7	breast:
6	chr11:63577221..63582686-chr11:63583021..63587487,9	MCF-7	breast:
7	chr11:63582237..63585723-chr11:63588277..63590938,5	MCF-7	breast:

No data

Variant related genes	Relation type
C11orf84	TF binding region
ENSG00000255651	Chromatin interaction
ENSG00000188070	Chromatin interaction
ENSG00000168005	Chromatin interaction
ENSG00000072518	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs3017733	0.93[ASN][1000 genomes]
rs72932287	0.97[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription 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 target site	100 gene(s)	inside rSNPs	diseases
2	nsv468589	chr11:63515752-63713239	Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv555180	chr11:63515752-63713239	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Active TSS 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 target site	39 gene(s)	inside rSNPs	diseases
4	esv33730	chr11:63581200-63586085	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent/Poised TSS 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	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63582000-63584400	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:63582000-63585400	Weak transcription	Aorta	Aorta
3	chr11:63582200-63584400	Enhancers	Monocytes-CD14+_RO01746	blood
4	chr11:63582200-63585000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr11:63582200-63585200	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr11:63582200-63585400	Weak transcription	Esophagus	oesophagus
7	chr11:63582200-63585400	Weak transcription	Pancreas	Pancrea
8	chr11:63582200-63587200	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:63582200-63604600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr11:63582400-63585000	Weak transcription	Skeletal Muscle Female	skeletal muscle
11	chr11:63582400-63585400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
12	chr11:63582400-63585600	Weak transcription	Primary B cells from peripheral blood	blood
13	chr11:63582400-63587200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr11:63582400-63588800	Weak transcription	Small Intestine	intestine
15	chr11:63582400-63604800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr11:63582600-63585000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr11:63582600-63585000	Weak transcription	HSMMtube	muscle
18	chr11:63582600-63585200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr11:63582600-63585400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
20	chr11:63582600-63585400	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr11:63582600-63587400	Weak transcription	Pancreatic Islets	Pancreatic Islet
22	chr11:63582600-63592200	Weak transcription	Stomach Mucosa	stomach
23	chr11:63582600-63604800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr11:63582600-63604800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
25	chr11:63582800-63584400	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr11:63582800-63585200	Weak transcription	Left Ventricle	heart
27	chr11:63582800-63586400	Strong transcription	ES-I3 Cell Line	embryonic stem cell
28	chr11:63582800-63588400	Weak transcription	Liver	Liver
29	chr11:63582800-63591800	Weak transcription	Primary B cells from cord blood	blood
30	chr11:63582800-63593600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
31	chr11:63582800-63595800	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr11:63582800-63596400	Strong transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:63583000-63584400	Genic enhancers	Brain Germinal Matrix	brain
34	chr11:63583000-63584400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
35	chr11:63583000-63584800	Weak transcription	Rectal Smooth Muscle	rectum
36	chr11:63583000-63585000	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr11:63583000-63585000	Weak transcription	Primary T helper cells fromperipheralblood	blood
38	chr11:63583000-63585000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr11:63583000-63585000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr11:63583000-63585200	Weak transcription	Primary T helper cells PMA-I stimulated	--
41	chr11:63583000-63585200	Weak transcription	Ovary	ovary
42	chr11:63583000-63585200	Weak transcription	Right Ventricle	heart
43	chr11:63583000-63588600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr11:63583000-63591000	Strong transcription	Primary hematopoietic stem cells	blood
45	chr11:63583000-63592600	Weak transcription	Psoas Muscle	Psoas
46	chr11:63583000-63594400	Strong transcription	HSMM	muscle
47	chr11:63583000-63594600	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr11:63583000-63595400	Strong transcription	Thymus	Thymus
49	chr11:63583000-63596200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr11:63583000-63596400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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