Variant report

Variant	rs533000994
Chromosome Location	chr17:46638955-46638956
allele	G/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	POLR2A	chr17:46638777-46639092	K562	blood:	n/a	n/a
2	POLR2A	chr17:46629941-46645329	PANC-1	pancreas:	n/a	n/a
3	SUZ12	chr17:46638882-46639378	H1-hESC	embryonic stem cell:	n/a	n/a
4	POLR2A	chr17:46638488-46641575	PANC-1	pancreas:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46629536..46631319-chr17:46636769..46639268,2	MCF-7	breast:

Variant related genes	Relation type
HOXB3	TF binding region
ENSG00000120093	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:22 , 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
16	nsv457822	chr17:46620402-46698710	Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	334 gene(s)	inside rSNPs	diseases
17	nsv575481	chr17:46620402-46698710	Bivalent/Poised TSS Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh 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	334 gene(s)	inside rSNPs	diseases
18	nsv457823	chr17:46620402-46704536	Enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh 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	342 gene(s)	inside rSNPs	diseases
19	nsv575482	chr17:46620402-46704536	Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	342 gene(s)	inside rSNPs	diseases
20	nsv457824	chr17:46625519-46693491	Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers Bivalent/Poised 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	332 gene(s)	inside rSNPs	diseases
21	nsv575483	chr17:46625519-46693491	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	332 gene(s)	inside rSNPs	diseases
22	esv1007307	chr17:46638901-46653131	Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46633400-46641000	Enhancers	Rectal Mucosa Donor 31	rectum
2	chr17:46634800-46639000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
3	chr17:46635000-46639400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr17:46635000-46654600	Weak transcription	Hela-S3	cervix
5	chr17:46636200-46639800	Genic enhancers	Fetal Stomach	stomach
6	chr17:46636200-46640600	Bivalent Enhancer	Duodenum Mucosa	Duodenum
7	chr17:46636400-46639600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr17:46636400-46639800	Enhancers	A549	lung
9	chr17:46636400-46640600	Enhancers	Adipose Nuclei	Adipose
10	chr17:46636400-46641000	Bivalent Enhancer	Fetal Intestine Small	intestine
11	chr17:46636600-46641000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
12	chr17:46636800-46640000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr17:46636800-46641200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr17:46637200-46639800	Enhancers	Rectal Mucosa Donor 29	rectum
15	chr17:46637400-46639200	Enhancers	Rectal Smooth Muscle	rectum
16	chr17:46637400-46639400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr17:46637400-46641400	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr17:46637600-46639000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr17:46637600-46639000	Weak transcription	Spleen	Spleen
20	chr17:46637600-46639200	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr17:46637600-46640200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr17:46637600-46640200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
23	chr17:46637600-46640400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:46637800-46641400	Weak transcription	Aorta	Aorta
25	chr17:46638000-46639000	Genic enhancers	Fetal Kidney	kidney
26	chr17:46638000-46643800	Enhancers	Primary hematopoietic stem cells	blood
27	chr17:46638200-46639000	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr17:46638200-46639400	Bivalent Enhancer	Stomach Mucosa	stomach
29	chr17:46638200-46639600	Weak transcription	Esophagus	oesophagus
30	chr17:46638200-46640000	Enhancers	Primary T cells fromperipheralblood	blood
31	chr17:46638400-46639000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr17:46638400-46639000	Enhancers	Colon Smooth Muscle	Colon
33	chr17:46638400-46639600	Weak transcription	Fetal Muscle Trunk	muscle
34	chr17:46638400-46640800	Enhancers	Colonic Mucosa	Colon
35	chr17:46638600-46639000	Bivalent Enhancer	NH-A	brain
36	chr17:46638600-46639200	Enhancers	Fetal Thymus	thymus
37	chr17:46638600-46639200	Enhancers	HSMMtube	muscle
38	chr17:46638600-46639800	Strong transcription	K562	blood
39	chr17:46638600-46640000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
40	chr17:46638600-46640000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr17:46638600-46641000	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr17:46638600-46641000	Bivalent Enhancer	Fetal Muscle Leg	muscle
43	chr17:46638600-46641600	Flanking Active TSS	Stomach Smooth Muscle	stomach
44	chr17:46638800-46639000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr17:46638800-46639200	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr17:46638800-46639200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
47	chr17:46638800-46639400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr17:46638800-46639400	Enhancers	Primary T cells from cord blood	blood
49	chr17:46638800-46639400	Enhancers	HUVEC	blood vessel
50	chr17:46638800-46639600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood

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