Variant report

Variant	rs563503400
Chromosome Location	chr11:64947931-64947932
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:25)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HCFC1	chr11:64947881-64950489	Hela-S3	cervix:	n/a	n/a
2	MAZ	chr11:64947750-64950092	IMR90	lung:	n/a	chr11:64949232-64949242 chr11:64948375-64948385 chr11:64949219-64949229
3	MXI1	chr11:64947882-64949502	IMR90	lung:	n/a	n/a
4	CTCF	chr11:64947556-64949294	A549	lung:	n/a	chr11:64948480-64948501 chr11:64949016-64949029 chr11:64948487-64948500 chr11:64948485-64948503
5	RAD21	chr11:64947803-64949131	SK-N-SH	brain:	n/a	chr11:64948483-64948502 chr11:64948287-64948301 chr11:64948486-64948499
6	JUN	chr11:64947916-64949759	K562	blood:	n/a	n/a
7	POLR2A	chr11:64946681-64957644	K562	blood:	n/a	n/a
8	CTCF	chr11:64947800-64947950	GM12873	blood:	n/a	n/a
9	GATA1	chr11:64947631-64950412	K562	blood:	n/a	chr11:64949285-64949294 chr11:64949285-64949295 chr11:64949276-64949293 chr11:64949287-64949294 chr11:64949283-64949296

No data

(count:25 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64897351..64905868-chr11:64946257..64954528,24	K562	blood:
2	chr11:64947686..64949760-chr11:64975928..64978193,2	MCF-7	breast:
3	chr11:64763361..64766296-chr11:64947138..64948729,2	K562	blood:
4	chr11:64894025..64897642-chr11:64945042..64952225,7	MCF-7	breast:
5	chr11:64943825..64947169-chr11:64947454..64950649,5	K562	blood:
6	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
7	chr11:64570704..64572363-chr11:64947696..64949572,2	MCF-7	breast:
8	chr11:64936062..64938583-chr11:64945871..64949706,4	MCF-7	breast:
9	chr11:64875868..64888016-chr11:64945810..64953962,46	MCF-7	breast:
10	chr11:64946608..64950484-chr11:65027800..65030670,5	K562	blood:
11	chr11:64947644..64950610-chr11:65027945..65030670,5	K562	blood:
12	chr11:64900106..64905064-chr11:64945207..64950571,10	K562	blood:
13	chr11:64644475..64647391-chr11:64946794..64949864,4	K562	blood:
14	chr11:64912371..64919818-chr11:64945990..64951836,8	MCF-7	breast:
15	chr11:64882968..64888833-chr11:64945101..64949501,11	K562	blood:
16	chr11:64877522..64908330-chr11:64931619..64960265,171	MCF-7	breast:
17	chr11:64889010..64891240-chr11:64947236..64950448,4	K562	blood:
18	chr11:64888081..64892747-chr11:64946823..64951612,8	MCF-7	breast:
19	chr11:64947729..64951218-chr11:65027798..65031522,5	MCF-7	breast:
20	chr11:64778492..64782821-chr11:64947057..64951070,4	K562	blood:
21	chr11:64898025..64904360-chr11:64945543..64952640,32	MCF-7	breast:
22	chr11:64947252..64950708-chr11:65267391..65271454,4	K562	blood:
23	chr11:64947304..64949541-chr17:64959371..64962311,2	MCF-7	breast:
24	chr11:64849453..64851884-chr11:64947314..64948879,2	K562	blood:
25	chr11:64946026..64951451-chr11:65265686..65269219,7	MCF-7	breast:

No data

Variant related genes	Relation type
PGAM1P8	TF binding region
CAPN1	TF binding region
ENSG00000255200	TF binding region
ENSG00000251562	Chromatin interaction
ENSG00000254455	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000075461	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000222477	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000168067	Chromatin interaction
ENSG00000168062	Chromatin interaction
ENSG00000162300	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000255200	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000146670	Chromatin interaction
ENSG00000254501	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv526181	chr11:64638041-65257329	Flanking Active TSS Enhancers Strong transcription Active TSS Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1539 gene(s)	inside rSNPs	diseases
2	nsv897713	chr11:64915042-65000719	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	42 gene(s)	inside rSNPs	diseases
3	esv3339354	chr11:64947901-64950749	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	32 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:79 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64927400-64948400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr11:64933600-64948000	Weak transcription	Rectal Smooth Muscle	rectum
3	chr11:64933800-64948200	Weak transcription	Ovary	ovary
4	chr11:64937000-64948000	Weak transcription	Spleen	Spleen
5	chr11:64937000-64948000	Weak transcription	NHDF-Ad	bronchial
6	chr11:64937200-64948000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr11:64937600-64948000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr11:64937800-64948000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr11:64937800-64948200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr11:64940000-64948000	Weak transcription	Esophagus	oesophagus
11	chr11:64940800-64948000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
12	chr11:64941000-64948000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr11:64941000-64948000	Weak transcription	Stomach Smooth Muscle	stomach
14	chr11:64942400-64948000	Weak transcription	Placenta	Placenta
15	chr11:64942800-64948000	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr11:64945000-64948000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr11:64946600-64948000	Weak transcription	Stomach Mucosa	stomach
18	chr11:64947000-64948000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr11:64947400-64948000	Enhancers	Skeletal Muscle Male	skeletal muscle
20	chr11:64947400-64948000	Enhancers	HepG2	liver
21	chr11:64947600-64948000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr11:64947600-64948000	Enhancers	Breast Myoepithelial Primary Cells	Breast
23	chr11:64947600-64948000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:64947600-64948000	Enhancers	Primary B cells from cord blood	blood
25	chr11:64947600-64948000	Enhancers	Primary B cells from peripheral blood	blood
26	chr11:64947600-64948000	Enhancers	Muscle Satellite Cultured Cells	--
27	chr11:64947600-64948000	Enhancers	Liver	Liver
28	chr11:64947600-64948000	Enhancers	Duodenum Smooth Muscle	Duodenum
29	chr11:64947600-64948000	Enhancers	Fetal Heart	heart
30	chr11:64947600-64948000	Enhancers	Fetal Intestine Small	intestine
31	chr11:64947600-64948000	Enhancers	Fetal Lung	lung
32	chr11:64947600-64948000	Enhancers	Fetal Muscle Leg	muscle
33	chr11:64947600-64948000	Enhancers	Pancreas	Pancrea
34	chr11:64947600-64948000	Enhancers	Psoas Muscle	Psoas
35	chr11:64947600-64948000	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr11:64947600-64948000	Enhancers	Right Ventricle	heart
37	chr11:64947600-64948000	Enhancers	A549	lung
38	chr11:64947600-64948000	Enhancers	Hela-S3	cervix
39	chr11:64947600-64948000	Enhancers	NHLF	lung
40	chr11:64947600-64948200	Enhancers	Primary T cells fromperipheralblood	blood
41	chr11:64947600-64948200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
42	chr11:64947600-64948400	Flanking Active TSS	NHEK	skin
43	chr11:64947600-64948600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:64947600-64949800	Active TSS	Skeletal Muscle Female	skeletal muscle
45	chr11:64947600-64950400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:64947600-64950600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr11:64947600-64950800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr11:64947600-64951000	Active TSS	iPS-15b Cell Line	embryonic stem cell
49	chr11:64947800-64948000	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr11:64947800-64948000	Active TSS	H1 Cell Line	embryonic stem cell

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