Variant report

Variant	rs73487823
Chromosome Location	chr11:62601393-62601394
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:18)
CpG islands
(count:0)
Chromatin interactive
region (count:6)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:18 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62598343-62603571	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:62600935-62603534	GM12892	blood:	n/a	n/a
3	POLR2A	chr11:62601029-62601429	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr11:62601169-62601573	K562	blood:	n/a	n/a
5	POLR2A	chr11:62600892-62601838	K562	blood:	n/a	n/a
6	POLR2A	chr11:62600963-62601804	SK-N-MC	brain:	n/a	n/a
7	POLR2A	chr11:62598759-62603923	PFSK-1	brain:	n/a	n/a
8	POLR2A	chr11:62601267-62601435	GM12878	blood:	n/a	n/a
9	POLR2A	chr11:62600953-62601447	GM12878	blood:	n/a	n/a
10	POLR2A	chr11:62600952-62601463	GM12891	blood:	n/a	n/a
11	POLR2A	chr11:62600778-62601450	GM12891	blood:	n/a	n/a
12	POLR2A	chr11:62600951-62601540	K562	blood:	n/a	n/a
13	POLR2A	chr11:62600848-62601550	GM12892	blood:	n/a	n/a
14	POLR2A	chr11:62600792-62603639	GM12878	blood:	n/a	n/a
15	POLR2A	chr11:62601159-62601866	K562	blood:	n/a	n/a
16	POLR2A	chr11:62600873-62601513	GM12891	blood:	n/a	n/a
17	POLR2A	chr11:62600968-62601451	H1-hESC	embryonic stem cell:	n/a	n/a
18	POLR2A	chr11:62601295-62601519	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62529679..62531629-chr11:62598537..62601462,2	K562	blood:
2	chr11:62537653..62539497-chr11:62601200..62602977,3	MCF-7	breast:
3	chr11:62597102..62625754-chr11:62640222..62672995,305	MCF-7	breast:
4	chr11:62596557..62612020-chr11:62639561..62665043,131	K562	blood:
5	chr11:62491904..62497981-chr11:62597734..62601812,7	MCF-7	breast:
6	chr11:62493726..62495633-chr11:62601289..62603673,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SLC3A2-1	chr11:62601035-62601515	ENSG00000256690.1

No data

Variant related genes	Relation type
STX5	TF binding region
WDR74	TF binding region
ENSG00000162227	Chromatin interaction
ENSG00000267811	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000168002	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000234857	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs11231220	1.00[AMR][1000 genomes]
rs11231261	0.86[AFR][1000 genomes]
rs12270342	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288417	1.00[AMR][1000 genomes]
rs12290152	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292281	1.00[AMR][1000 genomes]
rs12295052	1.00[AMR][1000 genomes]
rs12295516	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28400288	1.00[AMR][1000 genomes]
rs56994557	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58003814	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58505493	1.00[AMR][1000 genomes]
rs58792209	1.00[AMR][1000 genomes]
rs59143369	1.00[AMR][1000 genomes]
rs61088491	1.00[AMR][1000 genomes]
rs73483955	1.00[AMR][1000 genomes]
rs73483965	1.00[AMR][1000 genomes]
rs73483978	1.00[AMR][1000 genomes]
rs73485621	1.00[AMR][1000 genomes]
rs73485634	1.00[AMR][1000 genomes]
rs73485689	1.00[AMR][1000 genomes]
rs73487820	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487824	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487852	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487868	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73502144	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915636	chr11:62016992-62713565	Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1441 gene(s)	inside rSNPs	diseases
2	nsv532283	chr11:62201358-62863475	Enhancers Flanking Active TSS Genic enhancers Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1433 gene(s)	inside rSNPs	diseases
3	nsv532284	chr11:62220043-62630253	Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Active TSS Strong transcription 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	1401 gene(s)	inside rSNPs	diseases
4	nsv497903	chr11:62330308-62608042	Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	489 gene(s)	inside rSNPs	diseases
5	nsv897623	chr11:62438819-62603916	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	215 gene(s)	inside rSNPs	diseases
6	nsv508636	chr11:62547114-62644458	Transcr. at gene 5' and 3' Enhancers Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	1195 gene(s)	inside rSNPs	diseases
7	nsv1051308	chr11:62564713-62673136	Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases
8	nsv541058	chr11:62564713-62673136	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	1199 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62599200-62604200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr11:62600000-62601600	Transcr. at gene 5' and 3'	Dnd41	blood
3	chr11:62600200-62601400	Enhancers	Fetal Brain Male	brain
4	chr11:62600200-62601400	Enhancers	Fetal Heart	heart
5	chr11:62600400-62601400	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
6	chr11:62600400-62601400	Genic enhancers	Primary T cells fromperipheralblood	blood
7	chr11:62600400-62601400	Enhancers	Primary T killer memory cells from peripheral blood	blood
8	chr11:62600400-62601400	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr11:62600400-62601400	Enhancers	Stomach Mucosa	stomach
10	chr11:62600400-62601400	Transcr. at gene 5' and 3'	GM12878-XiMat	blood
11	chr11:62600400-62601400	Transcr. at gene 5' and 3'	Hela-S3	cervix
12	chr11:62600400-62602000	Weak transcription	Aorta	Aorta
13	chr11:62600400-62606200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr11:62600400-62606200	Weak transcription	Fetal Kidney	kidney
15	chr11:62600600-62601400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
16	chr11:62600600-62601400	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
17	chr11:62600600-62601400	Genic enhancers	Fetal Intestine Large	intestine
18	chr11:62600600-62601400	Genic enhancers	Fetal Muscle Trunk	muscle
19	chr11:62600600-62601400	Genic enhancers	Fetal Muscle Leg	muscle
20	chr11:62600600-62601400	Genic enhancers	HUVEC	blood vessel
21	chr11:62600600-62601600	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr11:62600600-62601600	Genic enhancers	Primary T helper 17 cells PMA-I stimulated	--
23	chr11:62600600-62601600	Genic enhancers	Cortex derived primary cultured neurospheres	brain
24	chr11:62600600-62601600	Genic enhancers	Lung	lung
25	chr11:62600600-62601600	Genic enhancers	Skeletal Muscle Male	skeletal muscle
26	chr11:62600600-62601800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr11:62600600-62602000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr11:62600600-62602000	Weak transcription	Rectal Smooth Muscle	rectum
29	chr11:62600600-62602200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr11:62600600-62602200	Genic enhancers	ES-UCSF4 Cell Line	embryonic stem cell
31	chr11:62600600-62602400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr11:62600600-62602800	Weak transcription	Psoas Muscle	Psoas
33	chr11:62600600-62603200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:62600600-62605400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr11:62600600-62606400	Weak transcription	Small Intestine	intestine
36	chr11:62600800-62601400	Genic enhancers	Primary monocytes fromperipheralblood	blood
37	chr11:62600800-62601400	Genic enhancers	Primary hematopoietic stem cells	blood
38	chr11:62600800-62601400	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
39	chr11:62600800-62601400	Genic enhancers	Primary mononuclear cells fromperipheralblood	Blood
40	chr11:62600800-62601400	Genic enhancers	NHDF-Ad	bronchial
41	chr11:62600800-62601600	Genic enhancers	HMEC	breast
42	chr11:62600800-62601600	Genic enhancers	NHEK	skin
43	chr11:62600800-62601800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr11:62600800-62601800	Genic enhancers	Primary T helper cells fromperipheralblood	blood
45	chr11:62600800-62601800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
46	chr11:62600800-62601800	Genic enhancers	Sigmoid Colon	Sigmoid Colon
47	chr11:62600800-62601800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
48	chr11:62600800-62601800	Genic enhancers	HepG2	liver
49	chr11:62600800-62603600	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr11:62600800-62604200	Genic enhancers	Liver	Liver

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