Variant report

Variant	rs35748558
Chromosome Location	chr11:72393754-72393755
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:37)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:37 , 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	chr11:72393636-72394212	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:72392039-72393799	HepG2	liver:	n/a	n/a
4	CTCF	chr11:72393740-72393890	GM12872	blood:	n/a	n/a
5	POLR2A	chr11:72393342-72393890	GM12878	blood:	n/a	n/a
6	POLR2A	chr11:72393716-72393790	H1-hESC	embryonic stem cell:	n/a	n/a
7	CTCF	chr11:72393680-72393830	HepG2	liver:	n/a	n/a
8	POLR2A	chr11:72391352-72393760	PANC-1	pancreas:	n/a	n/a
9	POLR2A	chr11:72390342-72394284	K562	blood:	n/a	n/a
10	POLR2A	chr11:72388985-72396153	GM12892	blood:	n/a	n/a
11	POLR2A	chr11:72392010-72393976	GM12892	blood:	n/a	n/a
12	POLR2A	chr11:72391409-72395319	GM12891	blood:	n/a	n/a
13	POLR2A	chr11:72393504-72395948	GM12878	blood:	n/a	n/a
14	POLR2A	chr11:72391380-72396040	HL-60	blood:	n/a	n/a
15	POLR2A	chr11:72391537-72394167	GM12891	blood:	n/a	n/a
16	POLR2A	chr11:72388899-72396049	K562	blood:	n/a	n/a
17	POLR2A	chr11:72393611-72394402	K562	blood:	n/a	n/a
18	PML	chr11:72393304-72393799	GM12878	blood:	n/a	n/a
19	POLR2A	chr11:72389086-72395911	GM12892	blood:	n/a	n/a
20	POLR2A	chr11:72390901-72394355	GM12878	blood:	n/a	n/a
21	POLR2A	chr11:72393706-72394168	K562	blood:	n/a	n/a
22	POLR2A	chr11:72388792-72395937	GM12891	blood:	n/a	n/a
23	POLR2A	chr11:72388800-72396117	GM12878	blood:	n/a	n/a
24	MTA3	chr11:72391339-72393948	GM12878	blood:	n/a	n/a
25	POLR2A	chr11:72389501-72394403	GM12892	blood:	n/a	n/a
26	POLR2A	chr11:72391252-72395172	SK-N-MC	brain:	n/a	n/a
27	POLR2A	chr11:72390577-72393836	GM12891	blood:	n/a	n/a
28	POLR2A	chr11:72388894-72394108	A549	lung:	n/a	n/a
29	POLR2A	chr11:72393237-72393809	PFSK-1	brain:	n/a	n/a
30	FOSL2	chr11:72391460-72393904	HepG2	liver:	n/a	chr11:72393853-72393862
31	POLR2A	chr11:72389164-72395995	GM12878	blood:	n/a	n/a
32	POLR2A	chr11:72390538-72394038	HepG2	liver:	n/a	n/a
33	NFATC1	chr11:72391413-72393966	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:72390971-72394260	HL-60	blood:	n/a	n/a
35	POLR2A	chr11:72392905-72393912	PFSK-1	brain:	n/a	n/a
36	POLR2A	chr11:72391601-72394173	GM18505	blood:	n/a	n/a
37	NFATC1	chr11:72391711-72393937	GM12878	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
ENSG00000186642	Chromatin interaction
ENSG00000186635	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10898866	0.86[AMR][1000 genomes]
rs11235557	0.86[ASN][1000 genomes]
rs11235558	0.86[ASN][1000 genomes]
rs11235559	0.86[ASN][1000 genomes]
rs11235575	0.85[AMR][1000 genomes]
rs12362256	0.84[ASN][1000 genomes]
rs12363065	0.86[ASN][1000 genomes]
rs12576046	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12576058	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12786302	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12787293	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12797368	0.86[ASN][1000 genomes]
rs12799451	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12802369	0.98[ASN][1000 genomes]
rs12804316	0.86[ASN][1000 genomes]
rs163694	0.93[ASN][1000 genomes]
rs168175	0.83[ASN][1000 genomes]
rs1872126	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs189332	0.86[ASN][1000 genomes]
rs2035467	0.84[ASN][1000 genomes]
rs2037030	0.86[ASN][1000 genomes]
rs2306607	0.86[AMR][1000 genomes]
rs2306609	0.93[ASN][1000 genomes]
rs341053	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs341060	0.88[ASN][1000 genomes]
rs341061	0.88[ASN][1000 genomes]
rs341062	0.87[ASN][1000 genomes]
rs34142547	1.00[ASN][1000 genomes]
rs342322	0.86[ASN][1000 genomes]
rs34285624	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34802028	1.00[ASN][1000 genomes]
rs3758934	0.91[ASN][1000 genomes]
rs3758935	0.93[ASN][1000 genomes]
rs3758936	0.93[ASN][1000 genomes]
rs3781913	0.86[ASN][1000 genomes]
rs3781916	0.86[ASN][1000 genomes]
rs7126790	0.92[ASN][1000 genomes]
rs900613	0.89[ASN][1000 genomes]
rs900614	0.91[ASN][1000 genomes]
rs900615	0.91[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:115 , 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	chr11:72391200-72393800	Weak transcription	Fetal Intestine Small	intestine
25	chr11:72391200-72394600	Weak transcription	Fetal Muscle Leg	muscle
26	chr11:72391200-72394600	Weak transcription	Dnd41	blood
27	chr11:72391200-72395000	Weak transcription	Adipose Nuclei	Adipose
28	chr11:72391200-72395000	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:72391200-72395200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
30	chr11:72391200-72395200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr11:72391200-72396400	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr11:72391400-72394000	Weak transcription	Fetal Intestine Large	intestine
33	chr11:72391400-72394600	Weak transcription	Primary T cells from cord blood	blood
34	chr11:72391400-72395800	Weak transcription	Primary hematopoietic stem cells	blood
35	chr11:72391400-72403800	Weak transcription	Small Intestine	intestine
36	chr11:72391600-72394800	Weak transcription	Primary T cells fromperipheralblood	blood
37	chr11:72391800-72394200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr11:72391800-72398600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr11:72392000-72395000	Weak transcription	Rectal Mucosa Donor 31	rectum
40	chr11:72392000-72395200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr11:72392200-72393800	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr11:72392200-72402600	Weak transcription	HUVEC	blood vessel
43	chr11:72392400-72393800	Weak transcription	Fetal Stomach	stomach
44	chr11:72392400-72394200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr11:72392400-72394200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr11:72392400-72394400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr11:72392400-72394400	Weak transcription	Osteobl	bone
48	chr11:72392400-72394600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr11:72392400-72394600	Weak transcription	NHLF	lung
50	chr11:72392400-72395400	Weak transcription	Brain Germinal Matrix	brain

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