Variant report

Variant	rs17880800
Chromosome Location	chr11:64950331-64950332
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:0)
Chromatin interactive
region (count:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 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	POLR2A	chr11:64949160-64950349	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr11:64949151-64950383	ECC-1	luminal epithelium:	n/a	n/a
4	ZNF263	chr11:64949176-64950431	HEK293-T-REx	kidney:	n/a	n/a
5	SIN3AK20	chr11:64948257-64950383	MCF-7	breast:	n/a	n/a
6	POLR2A	chr11:64948045-64950989	K562	blood:	n/a	n/a
7	CTCF	chr11:64950320-64950470	HEEpiC	esophagus:	n/a	n/a
8	ZBTB7A	chr11:64948110-64951299	ECC-1	luminal epithelium:	n/a	chr11:64949459-64949470
9	POLR2A	chr11:64946681-64957644	K562	blood:	n/a	n/a
10	REST	chr11:64948286-64950459	H1-neurons	neurons:	n/a	chr11:64949062-64949075 chr11:64948940-64948953 chr11:64949849-64949867 chr11:64949229-64949242
11	ZBTB7A	chr11:64948160-64950721	ECC-1	luminal epithelium:	n/a	chr11:64949459-64949470
12	ELF1	chr11:64948173-64950439	GM12878	blood:	n/a	chr11:64949399-64949412 chr11:64948376-64948388 chr11:64948742-64948754
13	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:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64897351..64905868-chr11:64946257..64954528,24	K562	blood:
2	chr11:64948280..64951360-chr11:64970311..64973843,4	MCF-7	breast:
3	chr11:64894025..64897642-chr11:64945042..64952225,7	MCF-7	breast:
4	chr11:64943825..64947169-chr11:64947454..64950649,5	K562	blood:
5	chr11:64877702..64891058-chr11:64944203..64957091,32	K562	blood:
6	chr11:64862263..64865019-chr11:64949588..64952291,3	MCF-7	breast:
7	chr11:64806998..64808499-chr11:64948414..64950755,2	MCF-7	breast:
8	chr11:64948264..64950913-chr11:64951274..64954036,3	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	chr11:64949731..64952366-chr11:64986911..64988700,2	K562	blood:
13	chr11:64949318..64950980-chr11:65546666..65549109,2	MCF-7	breast:
14	chr11:64900106..64905064-chr11:64945207..64950571,10	K562	blood:
15	chr11:64912371..64919818-chr11:64945990..64951836,8	MCF-7	breast:
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	chr11:64646646..64648212-chr11:64949732..64952705,2	MCF-7	breast:
24	chr11:64948574..64950369-chr11:65028562..65030445,2	MCF-7	breast:
25	chr11:64946026..64951451-chr11:65265686..65269219,7	MCF-7	breast:
26	chr11:64878011..64879555-chr11:64948753..64950744,2	K562	blood:

No data

Variant related genes	Relation type
CAPN1	TF binding region
ENSG00000254614	TF binding region
ENSG00000149823	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000222477	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000254470	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000110047	Chromatin interaction
ENSG00000254455	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000014216	Chromatin interaction
ENSG00000175827	Chromatin interaction
ENSG00000162298	Chromatin interaction
ENSG00000197847	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000255200	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs17880328	1.00[EUR][1000 genomes]
rs17881673	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17883372	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs17885718	0.81[MKK][hapmap];1.00[TSI][hapmap];0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs58874511	1.00[EUR][1000 genomes]
rs59600966	1.00[EUR][1000 genomes]
rs7933743	1.00[EUR][1000 genomes]

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:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:64947600-64950400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr11:64947600-64950600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:64947600-64950800	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr11:64947600-64951000	Active TSS	iPS-15b Cell Line	embryonic stem cell
5	chr11:64947800-64950400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr11:64947800-64950600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr11:64947800-64952200	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr11:64948000-64950400	Active TSS	Brain Angular Gyrus	brain
9	chr11:64948000-64950400	Active TSS	Fetal Kidney	kidney
10	chr11:64948000-64950400	Active TSS	Right Atrium	heart
11	chr11:64948000-64950400	Active TSS	Small Intestine	intestine
12	chr11:64948000-64950600	Active TSS	NHDF-Ad	bronchial
13	chr11:64948000-64950800	Active TSS	HSMM	muscle
14	chr11:64948000-64951000	Active TSS	ES-I3 Cell Line	embryonic stem cell
15	chr11:64948000-64951000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr11:64948000-64951000	Active TSS	Pancreatic Islets	Pancreatic Islet
17	chr11:64948000-64952000	Active TSS	H9 Cell Line	embryonic stem cell
18	chr11:64948200-64950400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr11:64948200-64950400	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr11:64948200-64950400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr11:64948200-64950400	Active TSS	GM12878-XiMat	blood
22	chr11:64948200-64950800	Active TSS	Gastric	stomach
23	chr11:64948200-64951000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr11:64948200-64951400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
25	chr11:64948200-64951600	Enhancers	Fetal Brain Male	brain
26	chr11:64948400-64950400	Active TSS	NHEK	skin
27	chr11:64948400-64950800	Active TSS	HMEC	breast
28	chr11:64948600-64950400	Active TSS	Brain Substantia Nigra	brain
29	chr11:64949400-64950400	Flanking Active TSS	Primary hematopoietic stem cells	blood
30	chr11:64949400-64950400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr11:64949400-64951000	Flanking Active TSS	Brain Germinal Matrix	brain
32	chr11:64949400-64952400	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
33	chr11:64949600-64950400	Flanking Active TSS	Primary T cells fromperipheralblood	blood
34	chr11:64949600-64950400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
35	chr11:64949600-64950400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
36	chr11:64949600-64950400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
37	chr11:64949600-64950400	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:64949600-64950400	Flanking Active TSS	Fetal Muscle Trunk	muscle
39	chr11:64949600-64950400	Flanking Active TSS	Fetal Muscle Leg	muscle
40	chr11:64949600-64950400	Flanking Active TSS	Fetal Thymus	thymus
41	chr11:64949600-64950600	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr11:64949600-64950600	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
43	chr11:64949600-64950600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
44	chr11:64949600-64950600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr11:64949600-64950600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:64949600-64950600	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr11:64949600-64950600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr11:64949600-64950600	Flanking Active TSS	HUVEC	blood vessel
49	chr11:64949600-64950800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
50	chr11:64949600-64950800	Flanking Active TSS	Colonic Mucosa	Colon

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