Variant report

Variant	rs12786302
Chromosome Location	chr11:72393987-72393988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:25)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:25 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:72391847-72394107	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:72393959-72394402	PFSK-1	brain:	n/a	n/a
3	POLR2A	chr11:72393636-72394212	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:72390342-72394284	K562	blood:	n/a	n/a
5	POLR2A	chr11:72388985-72396153	GM12892	blood:	n/a	n/a
6	POLR2A	chr11:72391409-72395319	GM12891	blood:	n/a	n/a
7	POLR2A	chr11:72393504-72395948	GM12878	blood:	n/a	n/a
8	POLR2A	chr11:72391380-72396040	HL-60	blood:	n/a	n/a
9	POLR2A	chr11:72391537-72394167	GM12891	blood:	n/a	n/a
10	POLR2A	chr11:72388899-72396049	K562	blood:	n/a	n/a
11	POLR2A	chr11:72393611-72394402	K562	blood:	n/a	n/a
12	MTA3	chr11:72393977-72394391	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:72389086-72395911	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:72390901-72394355	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:72393706-72394168	K562	blood:	n/a	n/a
16	POLR2A	chr11:72388792-72395937	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:72388800-72396117	GM12878	blood:	n/a	n/a
18	POLR2A	chr11:72389501-72394403	GM12892	blood:	n/a	n/a
19	POLR2A	chr11:72391252-72395172	SK-N-MC	brain:	n/a	n/a
20	POLR2A	chr11:72388894-72394108	A549	lung:	n/a	n/a
21	POLR2A	chr11:72389164-72395995	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:72390538-72394038	HepG2	liver:	n/a	n/a
23	POLR2A	chr11:72390971-72394260	HL-60	blood:	n/a	n/a
24	POLR2A	chr11:72393824-72394013	HUVEC	blood vessel:	n/a	n/a
25	POLR2A	chr11:72391601-72394173	GM18505	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72300586..72302823-chr11:72392503..72395440,2	MCF-7	breast:
2	chr11:72386808..72388323-chr11:72393446..72395639,2	K562	blood:
3	chr11:72390061..72391638-chr11:72391998..72394239,2	MCF-7	breast:
4	chr11:72392980..72396012-chr11:72397929..72401582,3	K562	blood:
5	chr11:72384189..72387111-chr11:72392506..72394977,2	MCF-7	breast:

No data

Variant related genes	Relation type
ARAP1-AS1	TF binding region
ENSG00000186635	Chromatin interaction
ENSG00000186642	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs11235557	0.84[ASN][1000 genomes]
rs11235558	0.84[ASN][1000 genomes]
rs11235559	0.84[ASN][1000 genomes]
rs12362256	0.82[ASN][1000 genomes]
rs12363065	0.84[ASN][1000 genomes]
rs12576046	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12576058	0.98[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12787293	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12797368	0.84[ASN][1000 genomes]
rs12799451	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12802369	0.97[ASN][1000 genomes]
rs12804316	0.84[ASN][1000 genomes]
rs163694	0.91[ASN][1000 genomes]
rs168175	0.81[ASN][1000 genomes]
rs1872126	0.97[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs189332	0.84[ASN][1000 genomes]
rs2035467	0.83[ASN][1000 genomes]
rs2037030	0.84[ASN][1000 genomes]
rs2306609	0.95[ASN][1000 genomes]
rs341053	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs341060	0.86[ASN][1000 genomes]
rs341061	0.86[ASN][1000 genomes]
rs341062	0.85[ASN][1000 genomes]
rs34142547	0.98[ASN][1000 genomes]
rs342322	0.84[ASN][1000 genomes]
rs34285624	0.89[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34802028	0.98[ASN][1000 genomes]
rs35748558	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3758934	0.90[ASN][1000 genomes]
rs3758935	0.91[ASN][1000 genomes]
rs3758936	0.91[ASN][1000 genomes]
rs3781913	0.84[ASN][1000 genomes]
rs3781916	0.84[ASN][1000 genomes]
rs7126790	0.91[ASN][1000 genomes]
rs900613	0.87[ASN][1000 genomes]
rs900614	0.89[ASN][1000 genomes]
rs900615	0.89[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	esv1806140	chr11:72268466-72546175	Enhancers Transcr. at gene 5' and 3' Strong transcription Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	77 gene(s)	inside rSNPs	diseases
2	nsv832207	chr11:72272750-72469122	Weak transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	31 gene(s)	inside rSNPs	diseases
3	nsv523601	chr11:72281884-72430935	Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	24 gene(s)	inside rSNPs	diseases
4	esv3394774	chr11:72320884-72694077	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:72380600-72395400	Weak transcription	Right Atrium	heart
2	chr11:72385400-72394600	Weak transcription	Gastric	stomach
3	chr11:72388000-72394400	Weak transcription	Brain Substantia Nigra	brain
4	chr11:72388000-72397200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr11:72388200-72396400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr11:72388600-72395000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr11:72388600-72396000	Weak transcription	Primary T helper cells fromperipheralblood	blood
8	chr11:72389600-72397800	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr11:72389800-72394000	Weak transcription	Thymus	Thymus
10	chr11:72390000-72394400	Weak transcription	GM12878-XiMat	blood
11	chr11:72390000-72394600	Weak transcription	Primary B cells from peripheral blood	blood
12	chr11:72390000-72395200	Weak transcription	Liver	Liver
13	chr11:72390000-72397000	Weak transcription	Primary B cells from cord blood	blood
14	chr11:72390200-72394200	Weak transcription	Primary neutrophils fromperipheralblood	blood
15	chr11:72390200-72394600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
16	chr11:72390200-72397800	Weak transcription	HepG2	liver
17	chr11:72390400-72395200	Weak transcription	A549	lung
18	chr11:72390600-72395400	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr11:72390800-72395000	Weak transcription	Fetal Brain Female	brain
20	chr11:72390800-72395000	Weak transcription	HSMMtube	muscle
21	chr11:72391000-72394200	Weak transcription	Primary monocytes fromperipheralblood	blood
22	chr11:72391000-72394400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr11:72391000-72394600	Weak transcription	Fetal Thymus	thymus
24	chr11:72391200-72394600	Weak transcription	Fetal Muscle Leg	muscle
25	chr11:72391200-72394600	Weak transcription	Dnd41	blood
26	chr11:72391200-72395000	Weak transcription	Adipose Nuclei	Adipose
27	chr11:72391200-72395000	Weak transcription	Placenta Amnion	Placenta Amnion
28	chr11:72391200-72395200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr11:72391200-72395200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr11:72391200-72396400	Weak transcription	HUES48 Cell Line	embryonic stem cell
31	chr11:72391400-72394000	Weak transcription	Fetal Intestine Large	intestine
32	chr11:72391400-72394600	Weak transcription	Primary T cells from cord blood	blood
33	chr11:72391400-72395800	Weak transcription	Primary hematopoietic stem cells	blood
34	chr11:72391400-72403800	Weak transcription	Small Intestine	intestine
35	chr11:72391600-72394800	Weak transcription	Primary T cells fromperipheralblood	blood
36	chr11:72391800-72394200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr11:72391800-72398600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr11:72392000-72395000	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr11:72392000-72395200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr11:72392200-72402600	Weak transcription	HUVEC	blood vessel
41	chr11:72392400-72394200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr11:72392400-72394200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr11:72392400-72394400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr11:72392400-72394400	Weak transcription	Osteobl	bone
45	chr11:72392400-72394600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr11:72392400-72394600	Weak transcription	NHLF	lung
47	chr11:72392400-72395400	Weak transcription	Brain Germinal Matrix	brain
48	chr11:72392600-72394400	Weak transcription	Fetal Muscle Trunk	muscle
49	chr11:72392600-72394600	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:72392600-72395000	Weak transcription	Sigmoid Colon	Sigmoid Colon

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