Variant report

Variant	rs57059040
Chromosome Location	chr17:37731426-37731427
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:37709600..37711661-chr17:37728844..37731443,2	MCF-7	breast:
2	chr17:37703141..37705807-chr17:37729679..37731590,2	K562	blood:
3	chr17:37728481..37731764-chr17:37748218..37751803,3	MCF-7	breast:
4	chr17:37730305..37732141-chr17:37773715..37775844,2	MCF-7	breast:
5	chr17:37728614..37731530-chr17:37739206..37742056,2	MCF-7	breast:
6	chr17:37728576..37732593-chr17:37732827..37737352,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000167258	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:48)

rs_ID	r²[population]
rs12940881	1.00[EUR][1000 genomes]
rs12943456	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12944298	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12946275	1.00[AMR][1000 genomes]
rs12950784	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12953178	1.00[EUR][1000 genomes]
rs2132141	1.00[EUR][1000 genomes]
rs34079604	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34207136	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34458385	0.90[AFR][1000 genomes]
rs34518049	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34745517	0.82[AFR][1000 genomes]
rs34904106	1.00[EUR][1000 genomes]
rs34910003	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs35270682	0.94[AFR][1000 genomes]
rs35442489	0.94[AFR][1000 genomes]
rs35550184	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35598597	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs35701477	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35821333	1.00[EUR][1000 genomes]
rs35896550	1.00[EUR][1000 genomes]
rs35929798	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35986399	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36025330	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs36172452	0.93[AFR][1000 genomes]
rs4252626	1.00[EUR][1000 genomes]
rs4252646	1.00[EUR][1000 genomes]
rs4252647	1.00[EUR][1000 genomes]
rs4252652	1.00[EUR][1000 genomes]
rs4252660	1.00[EUR][1000 genomes]
rs4988981	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58452873	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60114874	1.00[AMR][1000 genomes]
rs71369760	1.00[EUR][1000 genomes]
rs71369763	1.00[EUR][1000 genomes]
rs71369765	1.00[EUR][1000 genomes]
rs71369773	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs71369774	0.94[AFR][1000 genomes]
rs71369775	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs71369777	1.00[AMR][1000 genomes]
rs7212530	1.00[EUR][1000 genomes]
rs7218668	1.00[EUR][1000 genomes]
rs7219611	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7219683	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7224847	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7226215	0.80[AFR][1000 genomes]
rs8081144	0.92[AFR][1000 genomes]
rs9747666	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 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	nsv1057655	chr17:37333956-37732451	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	72 gene(s)	inside rSNPs	diseases
3	nsv1066033	chr17:37333956-37795617	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
4	nsv543340	chr17:37333956-37795617	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	78 gene(s)	inside rSNPs	diseases
5	nsv1061951	chr17:37442228-37770903	Bivalent Enhancer Strong transcription Weak transcription Active TSS ZNF genes & repeats Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	44 gene(s)	inside rSNPs	diseases
6	nsv543341	chr17:37442228-37770903	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent Enhancer 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	44 gene(s)	inside rSNPs	diseases
7	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
8	nsv532712	chr17:37521822-37768345	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	43 gene(s)	inside rSNPs	diseases
9	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
10	nsv521294	chr17:37694709-37804858	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
11	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
12	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
13	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
14	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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37721400-37736200	Weak transcription	Fetal Heart	heart
2	chr17:37730400-37735400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr17:37730600-37731600	Enhancers	Duodenum Mucosa	Duodenum
4	chr17:37730600-37731600	Enhancers	Esophagus	oesophagus
5	chr17:37730600-37731600	Enhancers	Fetal Intestine Large	intestine
6	chr17:37730600-37731600	Enhancers	Placenta	Placenta
7	chr17:37730600-37731800	Enhancers	Fetal Intestine Small	intestine
8	chr17:37730600-37732000	Weak transcription	Brain Germinal Matrix	brain
9	chr17:37730600-37732400	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr17:37730600-37732400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr17:37730600-37732400	Weak transcription	Brain Anterior Caudate	brain
12	chr17:37730600-37732400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr17:37730600-37732600	Weak transcription	Brain Hippocampus Middle	brain
14	chr17:37730600-37733200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr17:37730600-37733400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
16	chr17:37730600-37733400	Enhancers	Fetal Brain Male	brain
17	chr17:37730600-37733400	Enhancers	Fetal Brain Female	brain
18	chr17:37730600-37734200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr17:37730600-37734200	Weak transcription	Liver	Liver
20	chr17:37730600-37734200	Weak transcription	Fetal Lung	lung
21	chr17:37730600-37734400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr17:37730600-37734600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr17:37730600-37734800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr17:37730600-37734800	Weak transcription	Lung	lung
25	chr17:37730600-37734800	Weak transcription	Pancreas	Pancrea
26	chr17:37730600-37741400	Weak transcription	Brain Cingulate Gyrus	brain
27	chr17:37730600-37741600	Weak transcription	Right Atrium	heart
28	chr17:37730600-37748000	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr17:37730800-37734800	Weak transcription	Left Ventricle	heart
30	chr17:37730800-37738600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr17:37731400-37731800	Bivalent Enhancer	HepG2	liver
32	chr17:37731400-37732400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr17:37731400-37734600	Weak transcription	HUES48 Cell Line	embryonic stem cell

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