Variant report

Variant	rs73487824
Chromosome Location	chr11:62605049-62605050
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:62604955-62605474	GM12878	blood:	n/a	n/a
2	POLR2A	chr11:62604935-62605584	K562	blood:	n/a	n/a
3	POLR2A	chr11:62604952-62605719	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:62604962-62605360	PFSK-1	brain:	n/a	n/a

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62597102..62625754-chr11:62640222..62672995,305	MCF-7	breast:
2	chr11:62473515..62476746-chr11:62603608..62610455,10	K562	blood:
3	chr11:62472166..62476448-chr11:62602967..62610801,11	MCF-7	breast:
4	chr11:62596557..62612020-chr11:62639561..62665043,131	K562	blood:
5	chr11:62603352..62605695-chr22:31741151..31743312,2	MCF-7	breast:
6	chr11:62605044..62611833-chr11:62683227..62691981,12	MCF-7	breast:
7	chr11:62499024..62507318-chr11:62604678..62610455,13	MCF-7	breast:
8	chr11:62604589..62606739-chr7:83195512..83197034,2	MCF-7	breast:
9	chr11:62487017..62500577-chr11:62602457..62611761,54	MCF-7	breast:
10	chr11:62339316..62344491-chr11:62604974..62610455,12	K562	blood:
11	chr11:62431590..62435621-chr11:62601486..62605086,5	MCF-7	breast:
12	chr11:62604590..62606491-chr11:63972141..63974369,2	K562	blood:
13	chr11:62535952..62541500-chr11:62604915..62611417,24	K562	blood:

No data

Variant related genes	Relation type
WDR74	TF binding region
ENSG00000213888	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000234857	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000168539	Chromatin interaction
ENSG00000267811	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000162222	Chromatin interaction
ENSG00000100105	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000149781	Chromatin interaction
ENSG00000254772	Chromatin interaction
ENSG00000255508	Chromatin interaction
ENSG00000214753	Chromatin interaction
ENSG00000168003	Chromatin interaction
ENSG00000162227	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11231220	1.00[AMR][1000 genomes]
rs11231261	0.89[AFR][1000 genomes]
rs12270342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12288417	1.00[AMR][1000 genomes]
rs12290152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12292281	1.00[AMR][1000 genomes]
rs12295052	1.00[AMR][1000 genomes]
rs12295516	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28400288	1.00[AMR][1000 genomes]
rs56994557	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58003814	0.89[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	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487823	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73487868	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73502144	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	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
6	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
7	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	chr11:62600400-62606200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:62600400-62606200	Weak transcription	Fetal Kidney	kidney
3	chr11:62600600-62605400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr11:62600600-62606400	Weak transcription	Small Intestine	intestine
5	chr11:62600800-62605400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr11:62601000-62605200	Strong transcription	Brain Anterior Caudate	brain
7	chr11:62601000-62605200	Strong transcription	Fetal Stomach	stomach
8	chr11:62601000-62606200	Weak transcription	Primary neutrophils fromperipheralblood	blood
9	chr11:62601200-62605200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr11:62601200-62605200	Strong transcription	Primary B cells from peripheral blood	blood
11	chr11:62601200-62605200	Strong transcription	Fetal Thymus	thymus
12	chr11:62601200-62605400	Strong transcription	HUES64 Cell Line	embryonic stem cell
13	chr11:62601200-62605400	Strong transcription	Rectal Mucosa Donor 29	rectum
14	chr11:62601200-62605600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr11:62601200-62605600	Strong transcription	H9 Cell Line	embryonic stem cell
16	chr11:62601200-62605600	Strong transcription	Osteobl	bone
17	chr11:62601200-62606200	Weak transcription	Right Atrium	heart
18	chr11:62601400-62605200	Strong transcription	H1 Cell Line	embryonic stem cell
19	chr11:62601400-62605200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr11:62601400-62605200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr11:62601400-62605200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr11:62601400-62605400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
23	chr11:62601400-62605400	Strong transcription	Fetal Intestine Large	intestine
24	chr11:62601400-62605400	Strong transcription	Fetal Muscle Leg	muscle
25	chr11:62601400-62605400	Strong transcription	A549	lung
26	chr11:62601400-62605400	Strong transcription	HSMM	muscle
27	chr11:62601400-62605600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:62601400-62605600	Strong transcription	HUES6 Cell Line	embryonic stem cell
29	chr11:62601400-62605600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
30	chr11:62601400-62605600	Weak transcription	Fetal Brain Male	brain
31	chr11:62601400-62605800	Strong transcription	Fetal Intestine Small	intestine
32	chr11:62601400-62606000	Weak transcription	Fetal Heart	heart
33	chr11:62601400-62606200	Weak transcription	Stomach Mucosa	stomach
34	chr11:62601600-62605200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr11:62601600-62605200	Strong transcription	Cortex derived primary cultured neurospheres	brain
36	chr11:62601600-62605400	Strong transcription	NHEK	skin
37	chr11:62601600-62605800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr11:62601800-62605200	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr11:62601800-62605400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr11:62601800-62605600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:62602200-62605800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
42	chr11:62602400-62605200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr11:62603000-62605200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
44	chr11:62603200-62605200	Weak transcription	Psoas Muscle	Psoas
45	chr11:62603200-62605600	Weak transcription	Pancreas	Pancrea
46	chr11:62603200-62606200	Weak transcription	HUVEC	blood vessel
47	chr11:62603400-62605400	Strong transcription	Fetal Muscle Trunk	muscle
48	chr11:62603400-62606000	Weak transcription	Right Ventricle	heart
49	chr11:62603400-62606200	Weak transcription	Brain Hippocampus Middle	brain
50	chr11:62603400-62606200	Weak transcription	Esophagus	oesophagus

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