Variant report

Variant	rs72829860
Chromosome Location	chr17:46650282-46650283
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46648452..46650597-chr17:46655694..46657382,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000257178	Chromatin interaction
ENSG00000120093	Chromatin interaction

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs55682497	1.00[AFR][1000 genomes]
rs55786154	1.00[AFR][1000 genomes]
rs56314407	1.00[AFR][1000 genomes]
rs72827889	1.00[AFR][1000 genomes]
rs72829847	1.00[AFR][1000 genomes]
rs72829852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72829861	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72829862	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72829863	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs72829868	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs72829881	0.80[EUR][1000 genomes]
rs72829895	1.00[AFR][1000 genomes]
rs72831805	1.00[AFR][1000 genomes]
rs72831816	1.00[AFR][1000 genomes]
rs72831824	1.00[AFR][1000 genomes]
rs72831829	1.00[AFR][1000 genomes]
rs72831830	1.00[AFR][1000 genomes]

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	chr17:46635000-46654600	Weak transcription	Hela-S3	cervix
2	chr17:46644600-46652200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr17:46644600-46654200	Weak transcription	Spleen	Spleen
4	chr17:46645800-46652200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr17:46646400-46652000	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
6	chr17:46646400-46654800	Transcr. at gene 5' and 3'	Fetal Stomach	stomach
7	chr17:46647400-46653600	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
8	chr17:46648000-46651000	Transcr. at gene 5' and 3'	NHLF	lung
9	chr17:46648200-46650400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr17:46648400-46651000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
11	chr17:46648400-46652400	Weak transcription	HSMMtube	muscle
12	chr17:46648600-46650800	Flanking Active TSS	Stomach Smooth Muscle	stomach
13	chr17:46648600-46650800	Bivalent Enhancer	NH-A	brain
14	chr17:46648600-46651200	Flanking Active TSS	Rectal Smooth Muscle	rectum
15	chr17:46648600-46651600	Bivalent Enhancer	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr17:46648600-46652800	Weak transcription	Primary hematopoietic stem cells	blood
17	chr17:46648800-46650600	Weak transcription	Lung	lung
18	chr17:46648800-46651000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
19	chr17:46648800-46651000	Flanking Active TSS	NHDF-Ad	bronchial
20	chr17:46648800-46651200	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr17:46648800-46654200	Weak transcription	Primary T cells from cord blood	blood
22	chr17:46648800-46654800	Weak transcription	Gastric	stomach
23	chr17:46649000-46650600	Enhancers	Muscle Satellite Cultured Cells	--
24	chr17:46649000-46651000	Flanking Active TSS	Colon Smooth Muscle	Colon
25	chr17:46649000-46651600	Weak transcription	Aorta	Aorta
26	chr17:46649000-46652800	Weak transcription	HSMM	muscle
27	chr17:46649200-46650400	Genic enhancers	K562	blood
28	chr17:46649200-46650800	Enhancers	Adipose Nuclei	Adipose
29	chr17:46649400-46650600	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr17:46649400-46650600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
31	chr17:46649400-46650600	Genic enhancers	Fetal Kidney	kidney
32	chr17:46649600-46650600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr17:46649600-46650600	Enhancers	HUVEC	blood vessel
34	chr17:46649600-46651000	Genic enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr17:46649600-46653000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr17:46649600-46653600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr17:46649800-46650400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr17:46649800-46650600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
39	chr17:46649800-46650600	Bivalent Enhancer	Fetal Intestine Large	intestine
40	chr17:46649800-46651200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
41	chr17:46650000-46650400	Flanking Bivalent TSS/Enh	Fetal Intestine Small	intestine
42	chr17:46650000-46650800	Bivalent Enhancer	Duodenum Mucosa	Duodenum
43	chr17:46650000-46650800	Transcr. at gene 5' and 3'	Rectal Mucosa Donor 29	rectum
44	chr17:46650000-46651000	Genic enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr17:46650000-46653200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
46	chr17:46650200-46650400	Enhancers	Esophagus	oesophagus
47	chr17:46650200-46650400	Bivalent Enhancer	Right Atrium	heart
48	chr17:46650200-46650400	Strong transcription	Sigmoid Colon	Sigmoid Colon
49	chr17:46650200-46650600	Enhancers	Colonic Mucosa	Colon
50	chr17:46650200-46650600	Enhancers	A549	lung

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