Variant report

Variant	rs531178
Chromosome Location	chr11:64852421-64852422
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:17)
CpG islands
(count:0)
Chromatin interactive
region (count:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:17 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:64850144-64853317	K562	blood:	n/a	n/a
2	POLR2A	chr11:64851286-64853495	IMR90	lung:	n/a	n/a
3	POLR2A	chr11:64850932-64852438	K562	blood:	n/a	n/a
4	POLR2A	chr11:64851289-64852752	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:64852188-64854183	GM12878	blood:	n/a	n/a
6	MXI1	chr11:64850643-64852454	IMR90	lung:	n/a	n/a
7	E2F4	chr11:64852281-64852440	MCF10A-Er-Src	breast:	n/a	n/a
8	POLR2A	chr11:64850832-64852462	H1-hESC	embryonic stem cell:	n/a	n/a
9	MXI1	chr11:64850510-64852620	SK-N-SH	brain:	n/a	n/a
10	POLR2A	chr11:64850807-64852688	HepG2	liver:	n/a	n/a
11	ESRRA	chr11:64850816-64852688	GM12878	blood:	n/a	chr11:64852024-64852037
12	POLR2A	chr11:64850751-64853626	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr11:64851937-64852429	GM12891	blood:	n/a	n/a
14	POLR2A	chr11:64851949-64852830	H1-hESC	embryonic stem cell:	n/a	n/a
15	MAZ	chr11:64851174-64853255	IMR90	lung:	n/a	chr11:64851946-64851956
16	POLR2A	chr11:64851167-64852905	GM12878	blood:	n/a	n/a
17	HCFC1	chr11:64850858-64852937	Hela-S3	cervix:	n/a	n/a

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:64849716..64853170-chr11:64935136..64939292,4	K562	blood:
2	chr11:64779637..64784611-chr11:64849890..64854060,9	K562	blood:
3	chr11:64781269..64783468-chr11:64850067..64853147,4	MCF-7	breast:
4	chr11:64851613..64854142-chr11:64888312..64890882,3	K562	blood:
5	chr11:64807090..64809871-chr11:64850334..64853304,4	MCF-7	breast:
6	chr11:64849359..64854600-chr11:64874292..64883144,16	MCF-7	breast:
7	chr11:64779668..64784219-chr11:64849890..64854919,7	K562	blood:
8	chr11:64807684..64812709-chr11:64850593..64853492,4	MCF-7	breast:
9	chr11:64849716..64856389-chr11:64935136..64940419,9	K562	blood:
10	chr11:64644760..64647431-chr11:64850066..64853139,4	K562	blood:
11	chr11:64804480..64810811-chr11:64850224..64856247,12	K562	blood:
12	chr11:64849686..64855071-chr11:64883547..64886732,9	MCF-7	breast:
13	chr11:64851522..64853980-chr11:65411333..65413797,2	K562	blood:
14	chr11:64849456..64854518-chr11:64877116..64882654,9	K562	blood:
15	chr11:64851366..64853197-chr11:65148381..65150307,2	MCF-7	breast:
16	chr11:64850072..64852972-chr11:65026497..65029318,2	K562	blood:
17	chr11:64806537..64808623-chr11:64852176..64854982,2	K562	blood:
18	chr11:64609760..64612747-chr11:64851502..64854675,3	MCF-7	breast:
19	chr11:64793383..64797474-chr11:64849331..64856424,6	K562	blood:
20	chr11:64850973..64853282-chr11:65265136..65266781,2	K562	blood:
21	chr11:64832671..64835759-chr11:64851097..64853512,3	MCF-7	breast:

No data

Variant related genes	Relation type
CDCA5	TF binding region
ZFPL1	TF binding region
VPS51	TF binding region
ENSG00000110047	Chromatin interaction
ENSG00000251562	Chromatin interaction
ENSG00000149809	Chromatin interaction
ENSG00000110025	Chromatin interaction
ENSG00000273003	Chromatin interaction
ENSG00000270117	Chromatin interaction
ENSG00000213465	Chromatin interaction
ENSG00000149806	Chromatin interaction
ENSG00000254501	Chromatin interaction
ENSG00000149823	Chromatin interaction
ENSG00000213445	Chromatin interaction
ENSG00000171219	Chromatin interaction
ENSG00000168061	Chromatin interaction
ENSG00000204710	Chromatin interaction
ENSG00000255173	Chromatin interaction
ENSG00000174276	Chromatin interaction
ENSG00000149792	Chromatin interaction
ENSG00000162241	Chromatin interaction
ENSG00000014138	Chromatin interaction
ENSG00000270775	Chromatin interaction
ENSG00000146670	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10088	1.00[CEU][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs1149569	1.00[CEU][hapmap];1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1149570	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1195975	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1195976	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1195977	0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1195978	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1196047	1.00[CEU][hapmap];1.00[JPT][hapmap];0.81[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1196049	1.00[JPT][hapmap];0.88[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1196051	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1209621	1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1211975	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1300836	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1546532	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2370165	0.92[ASN][1000 genomes]
rs3819049	1.00[CEU][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3850948	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3896078	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs491465	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4930699	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs508375	1.00[CEU][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs527039	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7939766	1.00[CEU][hapmap];1.00[JPT][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs907629	1.00[CEU][hapmap];1.00[JPT][hapmap];0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	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	nsv897709	chr11:64772545-64870779	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv897710	chr11:64772545-64885445	Flanking Active TSS Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
4	nsv897711	chr11:64772545-64900270	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 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	chr11:64850200-64852800	Active TSS	H9 Cell Line	embryonic stem cell
2	chr11:64850400-64852600	Active TSS	HUES6 Cell Line	embryonic stem cell
3	chr11:64850600-64852800	Active TSS	HUES64 Cell Line	embryonic stem cell
4	chr11:64850800-64852600	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:64850800-64852600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:64850800-64852600	Active TSS	HUES48 Cell Line	embryonic stem cell
7	chr11:64850800-64852800	Active TSS	iPS-15b Cell Line	embryonic stem cell
8	chr11:64850800-64853000	Active TSS	H1 Cell Line	embryonic stem cell
9	chr11:64850800-64853000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:64851000-64852600	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr11:64851000-64853000	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr11:64851200-64852600	Active TSS	Pancreatic Islets	Pancreatic Islet
13	chr11:64851200-64852600	Active TSS	Right Ventricle	heart
14	chr11:64851400-64853000	Enhancers	Fetal Brain Male	brain
15	chr11:64852000-64852600	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:64852000-64852600	Flanking Active TSS	Primary B cells from cord blood	blood
17	chr11:64852000-64852600	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr11:64852000-64852600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr11:64852000-64852600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
20	chr11:64852000-64852600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr11:64852000-64852600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr11:64852000-64852600	Flanking Active TSS	Cortex derived primary cultured neurospheres	brain
23	chr11:64852000-64852600	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr11:64852000-64852600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
25	chr11:64852000-64852600	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr11:64852000-64852600	Flanking Active TSS	Fetal Brain Female	brain
27	chr11:64852000-64852600	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
28	chr11:64852000-64852600	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
29	chr11:64852000-64852600	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
30	chr11:64852000-64852600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
31	chr11:64852000-64852600	Flanking Active TSS	Thymus	Thymus
32	chr11:64852000-64852600	Flanking Active TSS	Dnd41	blood
33	chr11:64852000-64852600	Flanking Active TSS	Hela-S3	cervix
34	chr11:64852000-64852800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
35	chr11:64852000-64852800	Flanking Active TSS	Primary T cells from cord blood	blood
36	chr11:64852000-64852800	Flanking Active TSS	Primary hematopoietic stem cells	blood
37	chr11:64852000-64852800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:64852000-64852800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:64852000-64852800	Flanking Active TSS	Adipose Nuclei	Adipose
40	chr11:64852000-64852800	Flanking Active TSS	Liver	Liver
41	chr11:64852000-64852800	Flanking Active TSS	Brain Angular Gyrus	brain
42	chr11:64852000-64852800	Flanking Active TSS	Stomach Smooth Muscle	stomach
43	chr11:64852000-64852800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr11:64852200-64852600	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr11:64852200-64852600	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr11:64852200-64852600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
47	chr11:64852200-64852600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:64852200-64852600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr11:64852200-64852600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:64852200-64852600	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin

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