Variant report

Variant	rs73985857
Chromosome Location	chr17:46620203-46620204
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	TAF1	chr17:46620173-46622395	K562	blood:	n/a	n/a
2	POLR2A	chr17:46620117-46628421	PANC-1	pancreas:	n/a	n/a
3	POLR2A	chr17:46618007-46622747	K562	blood:	n/a	n/a
4	POLR2A	chr17:46616545-46629919	PANC-1	pancreas:	n/a	n/a
5	POLR2A	chr17:46616973-46622292	K562	blood:	n/a	n/a
6	UBTF	chr17:46618433-46622294	K562	blood:	n/a	n/a
7	UBTF	chr17:46618409-46622293	K562	blood:	n/a	n/a
8	POLR2A	chr17:46620079-46622806	U87	brain:	n/a	n/a
9	POLR2A	chr17:46618296-46623366	K562	blood:	n/a	n/a
10	CHD1	chr17:46619679-46622065	GM12878	blood:	n/a	chr17:46619790-46619800
11	TCF12	chr17:46620133-46621209	A549	lung:	n/a	n/a
12	POLR2A	chr17:46618339-46622203	GM12891	blood:	n/a	n/a
13	POLR2A	chr17:46618230-46622806	U87	brain:	n/a	n/a
14	POLR2A	chr17:46620174-46622368	K562	blood:	n/a	n/a
15	CHD1	chr17:46618264-46622953	IMR90	lung:	n/a	chr17:46619790-46619800
16	IRF1	chr17:46618327-46620357	K562	blood:	n/a	chr17:46619788-46619802 chr17:46619090-46619104

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46618868..46624573-chr17:46700689..46705978,10	K562	blood:

Variant related genes	Relation type
HOXB-AS1	TF binding region
ENSG00000170689	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs2229303	1.00[AMR][1000 genomes]
rs73985853	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	nsv833469	chr17:46491849-46709406	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
2	esv3420538	chr17:46504944-46861553	Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	369 gene(s)	inside rSNPs	diseases
3	nsv908577	chr17:46584900-46704536	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	343 gene(s)	inside rSNPs	diseases
4	nsv908578	chr17:46592413-46698710	Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
5	nsv908579	chr17:46592413-46727289	Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
6	nsv532113	chr17:46598247-47588570	Genic enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Flanking Active TSS Enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	453 gene(s)	inside rSNPs	diseases
7	esv2758459	chr17:46602673-46836837	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
8	esv2758694	chr17:46602673-46836837	Active TSS Bivalent Enhancer Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	364 gene(s)	inside rSNPs	diseases
9	nsv908580	chr17:46609103-46698710	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	335 gene(s)	inside rSNPs	diseases
10	nsv908581	chr17:46610646-46735520	Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	349 gene(s)	inside rSNPs	diseases
11	nsv575480	chr17:46617019-46684929	Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	322 gene(s)	inside rSNPs	diseases
12	nsv908582	chr17:46617019-46698710	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Weak transcription Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
13	nsv908583	chr17:46617019-46704536	Bivalent Enhancer Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
14	nsv833471	chr17:46617787-46783345	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	356 gene(s)	inside rSNPs	diseases
15	nsv908584	chr17:46618926-46735520	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	348 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46618200-46622400	Active TSS	Rectal Smooth Muscle	rectum
2	chr17:46618400-46620400	Bivalent/Poised TSS	Fetal Intestine Small	intestine
3	chr17:46618400-46620600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
4	chr17:46618400-46620600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
5	chr17:46618400-46620600	Bivalent/Poised TSS	Colonic Mucosa	Colon
6	chr17:46618400-46621000	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
7	chr17:46618400-46621600	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr17:46618400-46622000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
9	chr17:46618400-46622400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
10	chr17:46618400-46622400	Bivalent/Poised TSS	Thymus	Thymus
11	chr17:46618400-46622600	Active TSS	Right Atrium	heart
12	chr17:46618400-46622600	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
13	chr17:46618600-46620800	Active TSS	Lung	lung
14	chr17:46618600-46620800	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
15	chr17:46618600-46621200	Transcr. at gene 5' and 3'	NHLF	lung
16	chr17:46618600-46621400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr17:46618600-46621400	Active TSS	Primary T helper naive cells from peripheral blood	blood
18	chr17:46618600-46622200	Active TSS	Esophagus	oesophagus
19	chr17:46618600-46622200	Bivalent/Poised TSS	GM12878-XiMat	blood
20	chr17:46618600-46622400	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
21	chr17:46618600-46622400	Active TSS	Aorta	Aorta
22	chr17:46618600-46622400	Active TSS	Placenta Amnion	Placenta Amnion
23	chr17:46618600-46622600	Bivalent/Poised TSS	ES-WA7 Cell Line	embryonic stem cell
24	chr17:46618600-46622600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr17:46618600-46622600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr17:46618600-46622600	Bivalent/Poised TSS	Fetal Lung	lung
27	chr17:46618800-46620400	Bivalent/Poised TSS	Breast Myoepithelial Primary Cells	Breast
28	chr17:46618800-46620400	Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr17:46618800-46620400	Active TSS	Pancreas	Pancrea
30	chr17:46618800-46620600	Bivalent/Poised TSS	Right Ventricle	heart
31	chr17:46618800-46620800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr17:46618800-46621200	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
33	chr17:46618800-46621400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
34	chr17:46618800-46621600	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
35	chr17:46618800-46621800	Bivalent/Poised TSS	Left Ventricle	heart
36	chr17:46618800-46622000	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
37	chr17:46618800-46622200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
38	chr17:46618800-46622600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
39	chr17:46618800-46622600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
40	chr17:46618800-46622600	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
41	chr17:46618800-46622600	Active TSS	Fetal Kidney	kidney
42	chr17:46618800-46622600	Active TSS	K562	blood
43	chr17:46618800-46622600	Active TSS	NHDF-Ad	bronchial
44	chr17:46618800-46623000	Bivalent/Poised TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr17:46618800-46625600	Bivalent/Poised TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr17:46619000-46620400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
47	chr17:46619000-46620600	Bivalent/Poised TSS	NH-A	brain
48	chr17:46619000-46621200	Active TSS	Gastric	stomach
49	chr17:46619000-46622000	Active TSS	Sigmoid Colon	Sigmoid Colon
50	chr17:46619000-46622400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast

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