Variant report

Variant	rs73502144
Chromosome Location	chr11:62457206-62457207
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:62439396..62442145-chr11:62455963..62458544,3	K562	blood:
2	chr11:62431770..62434861-chr11:62453553..62457533,3	MCF-7	breast:
3	chr11:62455396..62457482-chr11:62538733..62540373,2	K562	blood:
4	chr11:62419108..62423185-chr11:62455731..62458906,3	MCF-7	breast:
5	chr11:62431325..62435861-chr11:62454068..62458882,6	K562	blood:
6	chr11:62457105..62459885-chr11:62607398..62609201,2	MCF-7	breast:
7	chr11:62455274..62458168-chr11:62458687..62460201,2	K562	blood:
8	chr11:62439105..62440946-chr11:62454404..62457345,2	MCF-7	breast:
9	chr11:62454251..62459827-chr11:62470958..62475427,7	MCF-7	breast:
10	chr11:62444275..62448625-chr11:62455839..62459957,10	MCF-7	breast:
11	chr11:62431406..62436223-chr11:62454992..62459535,6	MCF-7	breast:
12	chr11:62455845..62461275-chr11:62472394..62475433,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162227	Chromatin interaction
ENSG00000162191	Chromatin interaction
ENSG00000206597	Chromatin interaction
ENSG00000162188	Chromatin interaction
ENSG00000162194	Chromatin interaction
ENSG00000185085	Chromatin interaction
ENSG00000267811	Chromatin interaction
ENSG00000214756	Chromatin interaction
ENSG00000255432	Chromatin interaction
ENSG00000168000	Chromatin interaction
ENSG00000204922	Chromatin interaction
ENSG00000133316	Chromatin interaction

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:25)

rs_ID	r²[population]
rs11231220	1.00[AMR][1000 genomes]
rs12270342	1.00[AMR][1000 genomes]
rs12288417	1.00[AMR][1000 genomes]
rs12290152	1.00[AMR][1000 genomes]
rs12292281	1.00[AMR][1000 genomes]
rs12295052	1.00[AMR][1000 genomes]
rs12295516	1.00[AMR][1000 genomes]
rs28400288	1.00[AMR][1000 genomes]
rs56994557	1.00[AMR][1000 genomes]
rs58003814	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[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73483965	1.00[AMR][1000 genomes];1.00[EUR][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[AMR][1000 genomes]
rs73487823	1.00[AMR][1000 genomes]
rs73487824	1.00[AMR][1000 genomes]
rs73487852	1.00[AMR][1000 genomes]
rs73487868	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	nsv832182	chr11:62295575-62462848	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic 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	245 gene(s)	inside rSNPs	diseases
5	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
6	nsv555174	chr11:62334096-62496519	Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	243 gene(s)	inside rSNPs	diseases
7	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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:62447000-62457400	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:62447000-62457600	Weak transcription	HUES48 Cell Line	embryonic stem cell
3	chr11:62447000-62457800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
4	chr11:62447000-62458000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr11:62447000-62472400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr11:62447200-62457600	Weak transcription	HUES64 Cell Line	embryonic stem cell
7	chr11:62447200-62457600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr11:62447200-62458400	Weak transcription	HMEC	breast
9	chr11:62448600-62458600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr11:62448800-62457600	Weak transcription	Dnd41	blood
11	chr11:62448800-62458800	Weak transcription	GM12878-XiMat	blood
12	chr11:62449000-62457800	Weak transcription	HepG2	liver
13	chr11:62453600-62462000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr11:62454600-62457600	Active TSS	Colon Smooth Muscle	Colon
15	chr11:62454800-62457400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr11:62455000-62457400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr11:62455000-62457400	Active TSS	Rectal Smooth Muscle	rectum
18	chr11:62455000-62458200	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr11:62455400-62457400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr11:62455400-62457800	Enhancers	Fetal Heart	heart
21	chr11:62455800-62457600	Weak transcription	Spleen	Spleen
22	chr11:62455800-62457800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr11:62455800-62457800	Weak transcription	Left Ventricle	heart
24	chr11:62456000-62457400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr11:62456000-62457400	Active TSS	Duodenum Smooth Muscle	Duodenum
26	chr11:62456000-62457400	Weak transcription	Lung	lung
27	chr11:62456000-62457400	Weak transcription	Pancreas	Pancrea
28	chr11:62456000-62457600	Weak transcription	Placenta Amnion	Placenta Amnion
29	chr11:62456000-62457800	Enhancers	NH-A	brain
30	chr11:62456000-62458000	Enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr11:62456000-62461800	Weak transcription	Psoas Muscle	Psoas
32	chr11:62456000-62472800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr11:62456000-62472800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
34	chr11:62456000-62472800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
35	chr11:62456200-62457400	Weak transcription	Primary T helper cells fromperipheralblood	blood
36	chr11:62456200-62457400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
37	chr11:62456200-62457400	Weak transcription	Brain Anterior Caudate	brain
38	chr11:62456200-62457400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr11:62456200-62457800	Weak transcription	Brain Hippocampus Middle	brain
40	chr11:62456200-62457800	Weak transcription	Brain Substantia Nigra	brain
41	chr11:62456200-62458200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr11:62456200-62458200	Weak transcription	HUVEC	blood vessel
43	chr11:62456200-62458400	Weak transcription	Primary B cells from peripheral blood	blood
44	chr11:62456200-62458600	Weak transcription	Stomach Mucosa	stomach
45	chr11:62456400-62457600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr11:62456400-62457600	Enhancers	Fetal Kidney	kidney
47	chr11:62456400-62458000	Weak transcription	Primary hematopoietic stem cells	blood
48	chr11:62456400-62458200	Weak transcription	Fetal Lung	lung
49	chr11:62456600-62457400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr11:62456600-62457600	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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