Variant report

Variant	rs72930739
Chromosome Location	chr11:67018632-67018633
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:24)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:24 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:67017085-67025116	GM12892	blood:	n/a	n/a
2	POLR2A	chr11:67017775-67018964	GM12891	blood:	n/a	n/a
3	POLR2A	chr11:67018541-67018730	GM12891	blood:	n/a	n/a
4	USF1	chr11:67018464-67018718	K562	blood:	n/a	n/a
5	POLR2A	chr11:67018144-67022040	K562	blood:	n/a	n/a
6	POLR2A	chr11:67018591-67018639	K562	blood:	n/a	n/a
7	POLR2A	chr11:67018321-67018951	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:67018023-67018851	GM12892	blood:	n/a	n/a
9	POLR2A	chr11:67018558-67019123	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr11:67018066-67020796	K562	blood:	n/a	n/a
11	POLR2A	chr11:67018519-67018632	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:67018083-67018648	Hela-S3	cervix:	n/a	n/a
13	POLR2A	chr11:67017855-67019287	GM12891	blood:	n/a	n/a
14	POLR2A	chr11:67017816-67018809	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:67017781-67018905	GM12892	blood:	n/a	n/a
16	CCNT2	chr11:67018540-67018854	K562	blood:	n/a	n/a
17	POLR2A	chr11:67015292-67025062	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:67017727-67021962	K562	blood:	n/a	n/a
19	POLR2A	chr11:67018425-67018715	K562	blood:	n/a	n/a
20	POLR2A	chr11:67017988-67018750	PANC-1	pancreas:	n/a	n/a
21	POLR2A	chr11:67017701-67022317	HepG2	liver:	n/a	n/a
22	POLR2A	chr11:67017379-67025096	GM12878	blood:	n/a	n/a
23	POLR2A	chr11:67017360-67026939	GM12892	blood:	n/a	n/a
24	USF2	chr11:67018595-67018730	Hela-S3	cervix:	n/a	n/a

No data

(count:4 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67017470..67019588-chr11:67232411..67235092,2	MCF-7	breast:
2	chr11:67014012..67018797-chr11:67139535..67143686,6	MCF-7	breast:
3	chr11:66821593..66825355-chr11:67016030..67019325,8	MCF-7	breast:
4	chr11:66795244..66797194-chr11:67017395..67019736,2	MCF-7	breast:

No data

Variant related genes	Relation type
KDM2A	TF binding region
ENSG00000256514	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000173156	Chromatin interaction
ENSG00000175505	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs72930778	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72932715	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs72932799	1.00[AFR][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:127 , 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	chr11:67010200-67018800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
7	chr11:67010200-67024400	Strong transcription	H9 Cell Line	embryonic stem cell
8	chr11:67010200-67024600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr11:67010200-67025000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:67010200-67025000	Strong transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:67010200-67025000	Strong transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:67010200-67025000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:67010200-67025400	Strong transcription	H1 Cell Line	embryonic stem cell
14	chr11:67010200-67025400	Strong transcription	HUES48 Cell Line	embryonic stem cell
15	chr11:67010200-67025800	Strong transcription	Fetal Muscle Trunk	muscle
16	chr11:67010200-67026600	Strong transcription	Fetal Stomach	stomach
17	chr11:67010400-67019000	Strong transcription	Primary hematopoietic stem cells	blood
18	chr11:67010400-67020200	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr11:67010400-67024600	Strong transcription	HUVEC	blood vessel
20	chr11:67010400-67025000	Strong transcription	Fetal Brain Female	brain
21	chr11:67010400-67025000	Strong transcription	Sigmoid Colon	Sigmoid Colon
22	chr11:67010400-67025000	Strong transcription	Thymus	Thymus
23	chr11:67010400-67025000	Strong transcription	NH-A	brain
24	chr11:67010400-67026200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr11:67010600-67019600	Strong transcription	Primary T cells from cord blood	blood
26	chr11:67010600-67020000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
27	chr11:67010600-67020000	Strong transcription	Duodenum Mucosa	Duodenum
28	chr11:67010600-67020200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
29	chr11:67010600-67020400	Strong transcription	Fetal Intestine Small	intestine
30	chr11:67010600-67024400	Strong transcription	Psoas Muscle	Psoas
31	chr11:67010600-67024800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr11:67010600-67025000	Strong transcription	iPS-15b Cell Line	embryonic stem cell
33	chr11:67010600-67025000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr11:67010600-67025000	Strong transcription	Cortex derived primary cultured neurospheres	brain
35	chr11:67010600-67026400	Strong transcription	Fetal Muscle Leg	muscle
36	chr11:67010600-67026600	Strong transcription	Fetal Intestine Large	intestine
37	chr11:67010800-67018800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
38	chr11:67010800-67018800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr11:67010800-67019600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:67010800-67020200	Strong transcription	Rectal Mucosa Donor 31	rectum
41	chr11:67010800-67020400	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr11:67010800-67024400	Strong transcription	Colon Smooth Muscle	Colon
43	chr11:67010800-67024600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr11:67010800-67025000	Strong transcription	Stomach Smooth Muscle	stomach
45	chr11:67010800-67025000	Strong transcription	Dnd41	blood
46	chr11:67011000-67018800	Strong transcription	Gastric	stomach
47	chr11:67011000-67020200	Strong transcription	Brain Inferior Temporal Lobe	brain
48	chr11:67011000-67025000	Strong transcription	Rectal Smooth Muscle	rectum
49	chr11:67011200-67020800	Strong transcription	Colonic Mucosa	Colon
50	chr11:67011400-67024600	Strong transcription	Brain Hippocampus Middle	brain

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