Variant report

Variant	rs5644
Chromosome Location	chr17:37826728-37826729
allele	C/T
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:37820269..37822636-chr17:37824547..37827418,2	MCF-7	breast:
2	chr17:37775807..37781695-chr17:37822673..37828377,10	K562	blood:
3	chr17:37824914..37826916-chr17:37844097..37845761,2	K562	blood:
4	chr17:37825246..37828511-chr17:37865302..37868982,3	K562	blood:
5	chr17:37775807..37779827-chr17:37826059..37828358,3	K562	blood:
6	chr17:37791520..37796368-chr17:37822308..37826994,8	K562	blood:
7	chr17:37826293..37828141-chr17:37893095..37895694,2	K562	blood:
8	chr17:37772115..37773801-chr17:37825160..37827936,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000141738	Chromatin interaction
ENSG00000141736	Chromatin interaction
ENSG00000173991	Chromatin interaction
ENSG00000214546	Chromatin interaction
ENSG00000161395	Chromatin interaction
ENSG00000131748	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs12945567	1.00[AMR][1000 genomes]
rs12952222	1.00[AMR][1000 genomes]
rs34145888	1.00[AMR][1000 genomes]
rs34406947	1.00[AMR][1000 genomes]
rs34715089	1.00[AMR][1000 genomes]
rs34869948	1.00[AMR][1000 genomes]
rs34872040	1.00[AMR][1000 genomes]
rs34894549	1.00[AMR][1000 genomes]
rs35226954	1.00[AMR][1000 genomes]
rs35708591	1.00[AMR][1000 genomes]
rs35802901	1.00[AMR][1000 genomes]
rs35932672	1.00[AMR][1000 genomes]
rs57074971	1.00[AMR][1000 genomes]
rs58627150	1.00[AMR][1000 genomes]
rs59016861	1.00[AMR][1000 genomes]
rs59294054	1.00[AMR][1000 genomes]
rs66639406	1.00[AMR][1000 genomes]
rs66788250	1.00[AMR][1000 genomes]
rs67599922	1.00[AMR][1000 genomes]
rs67919571	1.00[AMR][1000 genomes]
rs73294102	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302113	1.00[AMR][1000 genomes]
rs73302117	1.00[AMR][1000 genomes]
rs73308310	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308323	1.00[AMR][1000 genomes]
rs73308329	1.00[AMR][1000 genomes]
rs73308333	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv932024	chr17:37192290-37850932	Weak transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	92 gene(s)	inside rSNPs	diseases
2	esv1825702	chr17:37487168-37876767	Genic enhancers Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
3	nsv833442	chr17:37692880-37861291	Active TSS Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
4	nsv908205	chr17:37709422-37830900	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
5	nsv908206	chr17:37709422-37866005	Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
6	nsv908207	chr17:37709422-37922259	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
7	nsv833443	chr17:37725640-37882864	Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
8	nsv457738	chr17:37770005-37831035	Active TSS Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
9	nsv574991	chr17:37770005-37831035	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
10	nsv516757	chr17:37781849-37834541	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	16 gene(s)	inside rSNPs	diseases
11	esv1792029	chr17:37797757-37886460	Active TSS Bivalent Enhancer Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
12	nsv908213	chr17:37807698-37839493	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
13	nsv528093	chr17:37814080-37866005	Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
14	nsv908214	chr17:37814224-37861833	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv908215	chr17:37818561-37834541	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37824600-37831000	Weak transcription	Gastric	stomach
2	chr17:37824800-37833200	Enhancers	Fetal Heart	heart
3	chr17:37825000-37827000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr17:37825000-37828000	Weak transcription	Ovary	ovary
5	chr17:37825200-37827200	Weak transcription	Brain Anterior Caudate	brain
6	chr17:37825200-37827600	Weak transcription	Fetal Brain Female	brain
7	chr17:37825200-37828000	Weak transcription	Liver	Liver
8	chr17:37825200-37828000	Weak transcription	Pancreas	Pancrea
9	chr17:37825200-37828200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr17:37825200-37828200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
11	chr17:37825200-37828200	Weak transcription	Lung	lung
12	chr17:37825200-37828800	Weak transcription	Primary B cells from cord blood	blood
13	chr17:37825200-37831200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr17:37825200-37832600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr17:37825200-37833000	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr17:37825400-37827200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
17	chr17:37825600-37827800	Bivalent Enhancer	HepG2	liver
18	chr17:37825800-37827200	Genic enhancers	Skeletal Muscle Male	skeletal muscle
19	chr17:37825800-37827400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
20	chr17:37825800-37833000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr17:37826000-37827400	Bivalent Enhancer	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr17:37826000-37828200	Weak transcription	K562	blood
23	chr17:37826200-37826800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr17:37826200-37827000	Genic enhancers	Right Ventricle	heart
25	chr17:37826400-37827600	Weak transcription	Fetal Brain Male	brain
26	chr17:37826400-37827600	Strong transcription	Placenta Amnion	Placenta Amnion
27	chr17:37826400-37828200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr17:37826400-37829000	Enhancers	Left Ventricle	heart
29	chr17:37826400-37833000	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr17:37826600-37826800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr17:37826600-37828200	Weak transcription	Right Atrium	heart

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