Variant report

Variant	rs66466718
Chromosome Location	chr11:67019641-67019642
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:36)
CpG islands
(count:0)
Chromatin interactive
region (count:2)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:36 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67019394-67023793	GM12891	blood:	n/a	n/a
2	POLR2A	chr11:67019562-67020853	A549	lung:	n/a	n/a
3	POLR2A	chr11:67019507-67021502	GM12891	blood:	n/a	n/a
4	POLR2A	chr11:67017085-67025116	GM12892	blood:	n/a	n/a
5	POLR2A	chr11:67019349-67021546	SK-N-MC	brain:	n/a	n/a
6	POLR2A	chr11:67019244-67021613	PANC-1	pancreas:	n/a	n/a
7	POLR2A	chr11:67019268-67019877	K562	blood:	n/a	n/a
8	POLR2A	chr11:67018144-67022040	K562	blood:	n/a	n/a
9	PML	chr11:67019489-67019968	K562	blood:	n/a	n/a
10	CTCF	chr11:67019593-67020701	SK-N-SH	brain:	n/a	chr11:67020414-67020435
11	POLR2A	chr11:67019306-67019987	H1-hESC	embryonic stem cell:	n/a	n/a
12	POLR2A	chr11:67019473-67020564	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:67019259-67020631	PFSK-1	brain:	n/a	n/a
14	POLR2A	chr11:67019011-67025029	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:67019302-67019835	K562	blood:	n/a	n/a
16	POLR2A	chr11:67019529-67019783	HepG2	liver:	n/a	n/a
17	POLR2A	chr11:67018066-67020796	K562	blood:	n/a	n/a
18	POLR2A	chr11:67019514-67021009	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:67018972-67025005	GM12892	blood:	n/a	n/a
20	POLR2A	chr11:67019015-67023818	GM12891	blood:	n/a	n/a
21	POLR2A	chr11:67019387-67021154	K562	blood:	n/a	n/a
22	POLR2A	chr11:67019316-67020221	HepG2	liver:	n/a	n/a
23	POLR2A	chr11:67019557-67019729	HepG2	liver:	n/a	n/a
24	POLR2A	chr11:67015292-67025062	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:67019558-67019826	H1-hESC	embryonic stem cell:	n/a	n/a
26	POLR2A	chr11:67017727-67021962	K562	blood:	n/a	n/a
27	POLR2A	chr11:67019467-67019913	GM12878	blood:	n/a	n/a
28	POLR2A	chr11:67019495-67020275	GM12891	blood:	n/a	n/a
29	POLR2A	chr11:67019273-67019783	Hela-S3	cervix:	n/a	n/a
30	POLR2A	chr11:67019638-67019653	Hela-S3	cervix:	n/a	n/a
31	POLR2A	chr11:67017701-67022317	HepG2	liver:	n/a	n/a
32	POLR2A	chr11:67019527-67019748	H1-hESC	embryonic stem cell:	n/a	n/a
33	POLR2A	chr11:67019492-67019774	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:67017379-67025096	GM12878	blood:	n/a	n/a
35	POLR2A	chr11:67019359-67022506	GM12892	blood:	n/a	n/a
36	POLR2A	chr11:67017360-67026939	GM12892	blood:	n/a	n/a

No data

(count:2 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:67019300..67021347-chr11:67159445..67161762,2	K562	blood:
2	chr11:66795244..66797194-chr11:67017395..67019736,2	MCF-7	breast:

No data

Variant related genes	Relation type
KDM2A	TF binding region
ENSG00000172613	Chromatin interaction

Extended variants
information (count: 50 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10736657	0.85[AMR][1000 genomes]
rs10896166	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11819783	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12288048	0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12788405	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12790040	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs12791853	0.89[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12805811	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs1419861	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1638569	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17878756	0.86[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17883741	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1790731	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1790735	0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1790737	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1790738	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1790739	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1790762	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1894112	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1944096	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2286619	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2298815	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2429459	0.93[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2429463	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2511057	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2514257	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2532605	0.96[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2852875	0.83[ASN][1000 genomes]
rs34087937	0.89[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs35176549	0.89[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35247976	0.89[AFR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35821109	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35876769	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35992831	0.86[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs36085596	0.80[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3737460	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4244822	0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59551907	0.85[AFR][1000 genomes];0.88[ASN][1000 genomes]
rs61734600	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6591241	0.89[AMR][1000 genomes]
rs66603590	0.87[ASN][1000 genomes]
rs71457775	0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7394531	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs7934433	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs867193	1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs9326373	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs9734588	1.00[EUR][1000 genomes];0.87[ASN][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	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv532287	chr11:66784014-67023899	Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' 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	48 gene(s)	inside rSNPs	diseases
3	nsv933183	chr11:67008447-67160993	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 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	chr11:67009200-67028800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:67009600-67025400	Strong transcription	Fetal Thymus	thymus
3	chr11:67010000-67020200	Strong transcription	Primary monocytes fromperipheralblood	blood
4	chr11:67010000-67025000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr11:67010000-67026600	Strong transcription	Primary neutrophils fromperipheralblood	blood
6	chr11:67010200-67024400	Strong transcription	H9 Cell Line	embryonic stem cell
7	chr11:67010200-67024600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr11:67010200-67025000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr11:67010200-67025000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr11:67010200-67025000	Strong transcription	HUES64 Cell Line	embryonic stem cell
11	chr11:67010200-67025000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
12	chr11:67010200-67025400	Strong transcription	H1 Cell Line	embryonic stem cell
13	chr11:67010200-67025400	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr11:67010200-67025800	Strong transcription	Fetal Muscle Trunk	muscle
15	chr11:67010200-67026600	Strong transcription	Fetal Stomach	stomach
16	chr11:67010400-67020200	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr11:67010400-67024600	Strong transcription	HUVEC	blood vessel
18	chr11:67010400-67025000	Strong transcription	Fetal Brain Female	brain
19	chr11:67010400-67025000	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr11:67010400-67025000	Strong transcription	Thymus	Thymus
21	chr11:67010400-67025000	Strong transcription	NH-A	brain
22	chr11:67010400-67026200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:67010600-67020000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr11:67010600-67020000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr11:67010600-67020200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:67010600-67020400	Strong transcription	Fetal Intestine Small	intestine
27	chr11:67010600-67024400	Strong transcription	Psoas Muscle	Psoas
28	chr11:67010600-67024800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
29	chr11:67010600-67025000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
30	chr11:67010600-67025000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
31	chr11:67010600-67025000	Strong transcription	Cortex derived primary cultured neurospheres	brain
32	chr11:67010600-67026400	Strong transcription	Fetal Muscle Leg	muscle
33	chr11:67010600-67026600	Strong transcription	Fetal Intestine Large	intestine
34	chr11:67010800-67020200	Strong transcription	Rectal Mucosa Donor 31	rectum
35	chr11:67010800-67020400	Strong transcription	Rectal Mucosa Donor 29	rectum
36	chr11:67010800-67024400	Strong transcription	Colon Smooth Muscle	Colon
37	chr11:67010800-67024600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr11:67010800-67025000	Strong transcription	Stomach Smooth Muscle	stomach
39	chr11:67010800-67025000	Strong transcription	Dnd41	blood
40	chr11:67011000-67020200	Strong transcription	Brain Inferior Temporal Lobe	brain
41	chr11:67011000-67025000	Strong transcription	Rectal Smooth Muscle	rectum
42	chr11:67011200-67020800	Strong transcription	Colonic Mucosa	Colon
43	chr11:67011400-67024600	Strong transcription	Brain Hippocampus Middle	brain
44	chr11:67011400-67024800	Strong transcription	Primary B cells from cord blood	blood
45	chr11:67011600-67020200	Strong transcription	Brain Angular Gyrus	brain
46	chr11:67011600-67020200	Strong transcription	Brain Cingulate Gyrus	brain
47	chr11:67011600-67021400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr11:67011600-67025800	Strong transcription	Brain Germinal Matrix	brain
49	chr11:67011800-67020400	Strong transcription	Brain Anterior Caudate	brain
50	chr11:67011800-67023200	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood

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