Variant report

Variant	rs59294054
Chromosome Location	chr17:37775771-37775772
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	HNF4A	chr17:37775750-37776350	HepG2	liver:	n/a	chr17:37776223-37776245 chr17:37775926-37775941
2	HNF4A	chr17:37775767-37776372	HepG2	liver:	n/a	chr17:37776223-37776245 chr17:37775926-37775941
3	HNF4A	chr17:37775741-37776359	HepG2	liver:	n/a	chr17:37776223-37776245 chr17:37775926-37775941
4	CTCF	chr17:37775660-37775810	GM12873	blood:	n/a	n/a
5	CEBPB	chr17:37775703-37776310	HepG2	liver:	n/a	n/a
6	HNF4G	chr17:37775714-37776360	HepG2	liver:	n/a	chr17:37776223-37776245
7	CTCF	chr17:37775640-37775790	GM12864	blood:	n/a	n/a
8	CTCF	chr17:37775720-37775870	GM12870	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:37774543..37777330-chr17:37885224..37887436,2	K562	blood:
2	chr17:37758356..37760181-chr17:37774194..37775834,2	MCF-7	breast:
3	chr17:37773896..37776239-chr17:37886682..37888820,2	MCF-7	breast:
4	chr17:37773259..37775797-chr17:37912370..37914095,2	MCF-7	breast:
5	chr17:37730305..37732141-chr17:37773715..37775844,2	MCF-7	breast:
6	chr17:37773404..37776321-chr17:37819728..37822241,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000214546	TF binding region
ENSG00000141741	Chromatin interaction
ENSG00000173991	Chromatin interaction

Extended variants
information (count: 45 )
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]
rs5644	1.00[AMR][1000 genomes]
rs57074971	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58627150	1.00[AMR][1000 genomes]
rs59016861	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	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73302113	1.00[AMR][1000 genomes]
rs73302117	1.00[AMR][1000 genomes]
rs73308310	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308323	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308329	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73308333	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 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	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
3	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
4	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
5	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
6	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
7	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
8	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
9	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
10	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
11	nsv908208	chr17:37749259-37781849	Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
12	nsv908209	chr17:37749259-37790340	Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
13	nsv908210	chr17:37761202-37781849	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
14	nsv908211	chr17:37765047-37782410	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
15	nsv908212	chr17:37765047-37790340	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
16	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
17	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
18	esv3391098	chr17:37773251-37775799	Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:37771800-37776200	Enhancers	Fetal Brain Male	brain
2	chr17:37774600-37776000	Flanking Bivalent TSS/Enh	HepG2	liver
3	chr17:37775000-37775800	Bivalent Enhancer	Fetal Intestine Large	intestine
4	chr17:37775000-37778400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
5	chr17:37775000-37778400	Weak transcription	Brain Substantia Nigra	brain
6	chr17:37775000-37779400	Weak transcription	Left Ventricle	heart
7	chr17:37775000-37782400	Weak transcription	Gastric	stomach
8	chr17:37775200-37775800	Enhancers	Brain Germinal Matrix	brain
9	chr17:37775200-37776000	Bivalent Enhancer	H9 Cell Line	embryonic stem cell
10	chr17:37775200-37776000	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr17:37775200-37776000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
12	chr17:37775200-37776200	Enhancers	Duodenum Mucosa	Duodenum
13	chr17:37775200-37776200	Enhancers	Rectal Mucosa Donor 29	rectum
14	chr17:37775200-37776200	Enhancers	Rectal Mucosa Donor 31	rectum
15	chr17:37775200-37777800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
16	chr17:37775200-37778000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr17:37775200-37778000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr17:37775200-37778000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr17:37775200-37778000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr17:37775200-37778400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
21	chr17:37775200-37778400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr17:37775200-37778400	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr17:37775200-37778400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:37775200-37778400	Weak transcription	Liver	Liver
25	chr17:37775200-37778400	Weak transcription	Brain Angular Gyrus	brain
26	chr17:37775200-37778400	Weak transcription	Brain Anterior Caudate	brain
27	chr17:37775200-37778400	Weak transcription	Brain Hippocampus Middle	brain
28	chr17:37775200-37778400	Weak transcription	Brain Inferior Temporal Lobe	brain
29	chr17:37775200-37778400	Weak transcription	Fetal Heart	heart
30	chr17:37775200-37778400	Weak transcription	Fetal Lung	lung
31	chr17:37775200-37778400	Weak transcription	Pancreas	Pancrea
32	chr17:37775200-37778400	Weak transcription	HUVEC	blood vessel
33	chr17:37775200-37779600	Weak transcription	Spleen	Spleen
34	chr17:37775200-37781200	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr17:37775200-37782600	Weak transcription	Lung	lung
36	chr17:37775200-37782800	Weak transcription	Right Atrium	heart
37	chr17:37775400-37775800	Enhancers	Stomach Mucosa	stomach
38	chr17:37775400-37776200	Enhancers	A549	lung
39	chr17:37775400-37777800	Weak transcription	Primary B cells from peripheral blood	blood
40	chr17:37775400-37778400	Weak transcription	Brain Cingulate Gyrus	brain
41	chr17:37775400-37779400	Weak transcription	HMEC	breast
42	chr17:37775400-37782800	Weak transcription	Right Ventricle	heart
43	chr17:37775600-37775800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr17:37775600-37776200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:37775600-37776400	Enhancers	Fetal Intestine Small	intestine
46	chr17:37775600-37776600	Enhancers	Fetal Brain Female	brain
47	chr17:37775600-37777800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr17:37775600-37778400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
49	chr17:37775600-37778400	Weak transcription	Hela-S3	cervix
50	chr17:37775600-37779400	Weak transcription	Colonic Mucosa	Colon

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