Variant report

Variant	rs60405249
Chromosome Location	chr11:72392987-72392988
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:55)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:55 , 50 per page) page: 1 2

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:72392068-72393000	HUVEC	blood vessel:	n/a	n/a
2	POLR2A	chr11:72391847-72394107	GM12878	blood:	n/a	n/a
3	POLR2A	chr11:72391821-72393449	K562	blood:	n/a	n/a
4	POLR2A	chr11:72392308-72393196	HepG2	liver:	n/a	n/a
5	POLR2A	chr11:72391783-72393564	HepG2	liver:	n/a	n/a
6	POLR2A	chr11:72392821-72392990	A549	lung:	n/a	n/a
7	POLR2A	chr11:72391117-72393510	HUVEC	blood vessel:	n/a	n/a
8	POLR2A	chr11:72392039-72393799	HepG2	liver:	n/a	n/a
9	POLR2A	chr11:72391448-72393491	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:72392302-72393106	Hela-S3	cervix:	n/a	n/a
11	POLR2A	chr11:72391352-72393760	PANC-1	pancreas:	n/a	n/a
12	POLR2A	chr11:72390342-72394284	K562	blood:	n/a	n/a
13	POLR2A	chr11:72388985-72396153	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:72392218-72393281	GM15510	blood:	n/a	n/a
15	POLR2A	chr11:72392010-72393976	GM12892	blood:	n/a	n/a
16	POLR2A	chr11:72391518-72393353	GM19193	blood:	n/a	n/a
17	POLR2A	chr11:72391409-72395319	GM12891	blood:	n/a	n/a
18	POLR2A	chr11:72392365-72393551	PANC-1	pancreas:	n/a	n/a
19	STAT5A	chr11:72391893-72393093	GM12878	blood:	n/a	chr11:72392157-72392169
20	POLR2A	chr11:72391686-72393171	Hela-S3	cervix:	n/a	n/a
21	POLR2A	chr11:72392666-72393272	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:72391380-72396040	HL-60	blood:	n/a	n/a
23	POLR2A	chr11:72391567-72393280	GM18951	blood:	n/a	n/a
24	POLR2A	chr11:72391537-72394167	GM12891	blood:	n/a	n/a
25	POLR2A	chr11:72388899-72396049	K562	blood:	n/a	n/a
26	POLR2A	chr11:72392214-72392995	HCT-116	colon:	n/a	n/a
27	POLR2A	chr11:72392455-72393586	Hela-S3	cervix:	n/a	n/a
28	POLR2A	chr11:72389086-72395911	GM12892	blood:	n/a	n/a
29	POLR2A	chr11:72390901-72394355	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:72388792-72395937	GM12891	blood:	n/a	n/a
31	POLR2A	chr11:72388800-72396117	GM12878	blood:	n/a	n/a
32	MTA3	chr11:72391339-72393948	GM12878	blood:	n/a	n/a
33	POLR2A	chr11:72391446-72393479	GM12878	blood:	n/a	n/a
34	POLR2A	chr11:72389501-72394403	GM12892	blood:	n/a	n/a
35	POLR2A	chr11:72391252-72395172	SK-N-MC	brain:	n/a	n/a
36	POLR2A	chr11:72390577-72393836	GM12891	blood:	n/a	n/a
37	POLR2A	chr11:72388894-72394108	A549	lung:	n/a	n/a
38	POLR2A	chr11:72392543-72393153	H1-hESC	embryonic stem cell:	n/a	n/a
39	POLR2A	chr11:72391514-72393269	H1-hESC	embryonic stem cell:	n/a	n/a
40	FOSL2	chr11:72391460-72393904	HepG2	liver:	n/a	chr11:72393853-72393862
41	POLR2A	chr11:72392114-72393251	HUVEC	blood vessel:	n/a	n/a
42	POLR2A	chr11:72392898-72393005	MCF-7	breast:	n/a	n/a
43	POLR2A	chr11:72389164-72395995	GM12878	blood:	n/a	n/a
44	POLR2A	chr11:72391820-72393471	ECC-1	luminal epithelium:	n/a	n/a
45	ZNF263	chr11:72391668-72393050	HEK293-T-REx	kidney:	n/a	chr11:72392466-72392475 chr11:72392563-72392584 chr11:72392299-72392308
46	POLR2A	chr11:72390538-72394038	HepG2	liver:	n/a	n/a
47	POLR2A	chr11:72389226-72393187	PFSK-1	brain:	n/a	n/a
48	POLR2A	chr11:72392292-72393520	H1-hESC	embryonic stem cell:	n/a	n/a
49	NFATC1	chr11:72391413-72393966	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:72390971-72394260	HL-60	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:72300586..72302823-chr11:72392503..72395440,2	MCF-7	breast:
2	chr11:72390946..72393095-chr11:72530175..72532739,2	K562	blood:
3	chr11:72390674..72393188-chr11:72394273..72396002,3	MCF-7	breast:
4	chr11:72390061..72391638-chr11:72391998..72394239,2	MCF-7	breast:
5	chr11:72392980..72396012-chr11:72397929..72401582,3	K562	blood:
6	chr11:72384189..72387111-chr11:72392506..72394977,2	MCF-7	breast:
7	chr11:72383575..72386768-chr11:72389731..72393141,4	K562	blood:

No data

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

Extended variants
information (count: 7 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs58196942	0.86[AFR][1000 genomes]
rs59308438	0.86[AFR][1000 genomes]
rs60057195	0.82[AFR][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:109 , 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	chr11:72390800-72393200	Enhancers	Brain Inferior Temporal Lobe	brain
20	chr11:72390800-72395000	Weak transcription	Fetal Brain Female	brain
21	chr11:72390800-72395000	Weak transcription	HSMMtube	muscle
22	chr11:72391000-72394200	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr11:72391000-72394400	Weak transcription	Duodenum Mucosa	Duodenum
24	chr11:72391000-72394600	Weak transcription	Fetal Thymus	thymus
25	chr11:72391200-72393000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr11:72391200-72393800	Weak transcription	Fetal Intestine Small	intestine
27	chr11:72391200-72394600	Weak transcription	Fetal Muscle Leg	muscle
28	chr11:72391200-72394600	Weak transcription	Dnd41	blood
29	chr11:72391200-72395000	Weak transcription	Adipose Nuclei	Adipose
30	chr11:72391200-72395000	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr11:72391200-72395200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr11:72391200-72395200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr11:72391200-72396400	Weak transcription	HUES48 Cell Line	embryonic stem cell
34	chr11:72391400-72393000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
35	chr11:72391400-72394000	Weak transcription	Fetal Intestine Large	intestine
36	chr11:72391400-72394600	Weak transcription	Primary T cells from cord blood	blood
37	chr11:72391400-72395800	Weak transcription	Primary hematopoietic stem cells	blood
38	chr11:72391400-72403800	Weak transcription	Small Intestine	intestine
39	chr11:72391600-72393200	Enhancers	Brain Angular Gyrus	brain
40	chr11:72391600-72394800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr11:72391800-72393000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr11:72391800-72393200	Enhancers	H1 Cell Line	embryonic stem cell
43	chr11:72391800-72393200	Enhancers	Breast Myoepithelial Primary Cells	Breast
44	chr11:72391800-72394200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:72391800-72398600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr11:72392000-72393000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr11:72392000-72393000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr11:72392000-72393000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
49	chr11:72392000-72393000	Enhancers	Placenta	Placenta
50	chr11:72392000-72393600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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