Variant report

Variant	rs575190141
Chromosome Location	chr11:46400596-46400597
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:46)
CpG islands
(count:0)
Chromatin interactive
region (count:4)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:46 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:46400510-46400654	MCF-7	breast:	n/a	n/a
2	POLR2A	chr11:46399537-46406317	K562	blood:	n/a	n/a
3	POLR2A	chr11:46398695-46401456	HL-60	blood:	n/a	n/a
4	POLR2A	chr11:46399739-46401596	SK-N-MC	brain:	n/a	n/a
5	POLR2A	chr11:46400100-46401317	GM12892	blood:	n/a	n/a
6	MYC	chr11:46400439-46400657	MCF-7	breast:	n/a	n/a
7	POLR2A	chr11:46399801-46400732	GM12892	blood:	n/a	n/a
8	POLR2A	chr11:46399744-46401543	NB4	blood:	n/a	n/a
9	POLR2A	chr11:46400453-46400656	GM12878	blood:	n/a	n/a
10	MTA3	chr11:46400125-46401161	GM12878	blood:	n/a	n/a
11	POLR2A	chr11:46399047-46401518	K562	blood:	n/a	n/a
12	POLR2A	chr11:46400225-46401837	PANC-1	pancreas:	n/a	n/a
13	POLR2A	chr11:46399545-46401444	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:46400113-46400746	GM12891	blood:	n/a	n/a
15	POLR2A	chr11:46399869-46402753	PANC-1	pancreas:	n/a	n/a
16	POLR2A	chr11:46400596-46401013	K562	blood:	n/a	n/a
17	POLR2A	chr11:46400451-46400729	A549	lung:	n/a	n/a
18	POLR2A	chr11:46400025-46401449	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:46400451-46400712	A549	lung:	n/a	n/a
20	POLR2A	chr11:46400177-46400676	H1-hESC	embryonic stem cell:	n/a	n/a
21	POLR2A	chr11:46399557-46401491	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:46400021-46401858	H1-hESC	embryonic stem cell:	n/a	n/a
23	POLR2A	chr11:46400255-46401637	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:46400358-46400804	H1-hESC	embryonic stem cell:	n/a	n/a
25	POLR2A	chr11:46400215-46400835	GM12878	blood:	n/a	n/a
26	POLR2A	chr11:46400089-46403104	PFSK-1	brain:	n/a	n/a
27	POLR2A	chr11:46400455-46400726	HUVEC	blood vessel:	n/a	n/a
28	POLR2A	chr11:46400553-46400776	HUVEC	blood vessel:	n/a	n/a
29	RUNX3	chr11:46400577-46400943	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:46399748-46401308	GM12878	blood:	n/a	n/a
31	POLR2A	chr11:46400348-46400739	GM12891	blood:	n/a	n/a
32	POLR2A	chr11:46398742-46401481	HL-60	blood:	n/a	n/a
33	POLR2A	chr11:46400386-46400714	Hela-S3	cervix:	n/a	n/a
34	POLR2A	chr11:46398748-46401609	K562	blood:	n/a	n/a
35	POLR2A	chr11:46400320-46400743	A549	lung:	n/a	n/a
36	POLR2A	chr11:46399194-46401040	K562	blood:	n/a	n/a
37	POLR2A	chr11:46400135-46401075	GM12891	blood:	n/a	n/a
38	POLR2A	chr11:46400508-46400755	MCF-7	breast:	n/a	n/a
39	POLR2A	chr11:46400402-46400704	GM12892	blood:	n/a	n/a
40	POLR2A	chr11:46400084-46400998	K562	blood:	n/a	n/a
41	POLR2A	chr11:46400337-46400716	MCF-7	breast:	n/a	n/a
42	POLR2A	chr11:46399748-46401612	PFSK-1	brain:	n/a	n/a
43	POLR2A	chr11:46400358-46400735	H1-hESC	embryonic stem cell:	n/a	n/a
44	CCNT2	chr11:46400579-46401151	K562	blood:	n/a	chr11:46400838-46400847
45	POLR2A	chr11:46400228-46401380	Hela-S3	cervix:	n/a	n/a
46	POLR2A	chr11:46400391-46405212	HepG2	liver:	n/a	n/a

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:46389075..46389843-chr11:46400385..46401154,2	K562	blood:
2	chr11:46399063..46400618-chr11:46400770..46402809,2	MCF-7	breast:
3	chr11:46256874..46260563-chr11:46399060..46405748,9	K562	blood:
4	chr11:46391583..46394850-chr11:46399666..46402869,4	MCF-7	breast:

No data

Variant related genes	Relation type
MDK	TF binding region
ENSG00000149091	Chromatin interaction
ENSG00000110492	Chromatin interaction
ENSG00000254639	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	esv1797501	chr11:46315437-46402521	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
4	esv1811345	chr11:46317062-46438072	Enhancers Bivalent Enhancer Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	nsv554202	chr11:46334239-46469900	Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv897316	chr11:46349631-46417815	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
7	nsv897317	chr11:46363411-46417815	Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
8	nsv897318	chr11:46388220-46417815	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	16 gene(s)	inside rSNPs	diseases
9	nsv897319	chr11:46396479-46417815	Genic enhancers Bivalent/Poised TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	15 gene(s)	inside rSNPs	diseases
10	nsv554203	chr11:46399538-46406497	Genic enhancers Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
11	nsv309	chr11:46399678-46440503	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv897320	chr11:46399901-46417815	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Active TSS Strong transcription Genic enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46383600-46402000	Weak transcription	Fetal Brain Male	brain
2	chr11:46385200-46400600	Strong transcription	Thymus	Thymus
3	chr11:46385400-46401200	Strong transcription	Dnd41	blood
4	chr11:46386000-46402200	Weak transcription	NHDF-Ad	bronchial
5	chr11:46388800-46400600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
6	chr11:46389000-46402000	Weak transcription	Right Atrium	heart
7	chr11:46389400-46401400	Strong transcription	Primary T cells from cord blood	blood
8	chr11:46389600-46401200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr11:46389600-46401800	Weak transcription	Stomach Mucosa	stomach
10	chr11:46389800-46400600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
11	chr11:46389800-46401000	Strong transcription	Fetal Thymus	thymus
12	chr11:46390200-46401200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr11:46391000-46402000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr11:46391400-46400600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:46391400-46402200	Weak transcription	NH-A	brain
16	chr11:46391600-46400600	Weak transcription	Hela-S3	cervix
17	chr11:46391600-46400800	Weak transcription	K562	blood
18	chr11:46391800-46400600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
19	chr11:46391800-46400600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
20	chr11:46391800-46400600	Strong transcription	Placenta	Placenta
21	chr11:46391800-46402200	Weak transcription	HSMM	muscle
22	chr11:46392000-46401400	Strong transcription	Cortex derived primary cultured neurospheres	brain
23	chr11:46394400-46401200	Strong transcription	Fetal Intestine Small	intestine
24	chr11:46394600-46400800	Strong transcription	Fetal Stomach	stomach
25	chr11:46394800-46400600	Strong transcription	Brain Anterior Caudate	brain
26	chr11:46396000-46400600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr11:46396800-46401800	Weak transcription	Osteobl	bone
28	chr11:46397000-46401800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
29	chr11:46397000-46402200	Weak transcription	HSMMtube	muscle
30	chr11:46397200-46400600	Strong transcription	Spleen	Spleen
31	chr11:46397800-46402000	Weak transcription	Aorta	Aorta
32	chr11:46397800-46402000	Weak transcription	HUVEC	blood vessel
33	chr11:46398000-46402000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr11:46398000-46402000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
35	chr11:46398200-46400800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr11:46398200-46401000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr11:46398200-46401200	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr11:46398200-46402000	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr11:46398400-46400800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
40	chr11:46398400-46401000	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr11:46398400-46401800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr11:46398400-46402000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:46398400-46402000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr11:46398400-46402000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:46398400-46402000	Weak transcription	Fetal Lung	lung
46	chr11:46398400-46402000	Weak transcription	GM12878-XiMat	blood
47	chr11:46398400-46402200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr11:46398400-46402200	Weak transcription	Brain Substantia Nigra	brain
49	chr11:46398600-46400600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr11:46398600-46400600	Weak transcription	Primary B cells from cord blood	blood

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