Variant report

Variant	rs28501510
Chromosome Location	chr17:46655948-46655949
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	HDAC2	chr17:46655774-46656126	K562	blood:	n/a	n/a
2	POLR2A	chr17:46653832-46656965	K562	blood:	n/a	n/a
3	POLR2A	chr17:46654099-46657776	K562	blood:	n/a	n/a
4	HEY1	chr17:46655912-46656773	K562	blood:	n/a	n/a
5	POLR2A	chr17:46655072-46656823	GM12878	blood:	n/a	n/a
6	YY1	chr17:46655613-46655997	GM12878	blood:	n/a	n/a
7	POLR2A	chr17:46655911-46656218	GM12878	blood:	n/a	n/a
8	MYC	chr17:46654977-46656443	K562	blood:	n/a	chr17:46655193-46655203
9	POU2F2	chr17:46655753-46656425	GM12878	blood:	n/a	chr17:46655903-46655915
10	GTF2B	chr17:46655688-46656510	K562	blood:	n/a	n/a
11	POLR2A	chr17:46652443-46656956	K562	blood:	n/a	n/a
12	CTCF	chr17:46655920-46656070	GM12873	blood:	n/a	n/a
13	IRF1	chr17:46655510-46656611	K562	blood:	n/a	n/a
14	POLR2A	chr17:46655480-46656959	K562	blood:	n/a	n/a
15	TAF1	chr17:46655917-46656464	K562	blood:	n/a	n/a
16	USF1	chr17:46655499-46656047	H1-hESC	embryonic stem cell:	n/a	n/a
17	BHLHE40	chr17:46655006-46656163	GM12878	blood:	n/a	n/a
18	POLR2A	chr17:46655426-46657178	K562	blood:	n/a	n/a
19	POLR2A	chr17:46655918-46656230	GM12878	blood:	n/a	n/a
20	USF1	chr17:46655517-46656006	ECC-1	luminal epithelium:	n/a	n/a
21	YY1	chr17:46654923-46656205	K562	blood:	n/a	n/a
22	USF1	chr17:46655489-46656103	HCT-116	colon:	n/a	n/a
23	GATA1	chr17:46655552-46656232	PBDE	blood:	n/a	n/a
24	POLR2A	chr17:46655045-46656784	GM15510	blood:	n/a	n/a
25	ELF1	chr17:46654971-46656582	GM12878	blood:	n/a	chr17:46655738-46655749 chr17:46655885-46655896
26	POLR2A	chr17:46655414-46656310	GM10847	blood:	n/a	n/a
27	TEAD4	chr17:46654008-46656463	K562	blood:	n/a	n/a
28	ELF1	chr17:46655473-46656005	K562	blood:	n/a	chr17:46655738-46655749 chr17:46655885-46655896
29	POLR2A	chr17:46655499-46656209	GM12878	blood:	n/a	n/a
30	ZBTB7A	chr17:46655738-46656426	K562	blood:	n/a	chr17:46656174-46656183
31	POLR2A	chr17:46655321-46656529	GM12878	blood:	n/a	n/a
32	NFYB	chr17:46655627-46655965	K562	blood:	n/a	chr17:46655870-46655880
33	USF2	chr17:46655629-46655962	Hela-S3	cervix:	n/a	chr17:46655791-46655802
34	BHLHE40	chr17:46655024-46656184	K562	blood:	n/a	n/a
35	RCOR1	chr17:46655640-46656329	K562	blood:	n/a	n/a
36	NFIC	chr17:46655903-46656327	GM12878	blood:	n/a	n/a
37	UBTF	chr17:46654046-46658362	K562	blood:	n/a	n/a
38	POLR2A	chr17:46654987-46656530	Raji	blood:	n/a	n/a
39	POLR2A	chr17:46655457-46656338	GM12892	blood:	n/a	n/a
40	CHD2	chr17:46655560-46656230	GM12878	blood:	n/a	n/a
41	MAZ	chr17:46655523-46656668	GM12878	blood:	n/a	n/a
42	USF1	chr17:46655451-46656046	HCT-116	colon:	n/a	n/a
43	TAF1	chr17:46655918-46656112	GM12891	blood:	n/a	n/a
44	TBP	chr17:46654816-46656625	K562	blood:	n/a	n/a
45	POLR2A	chr17:46654102-46656926	K562	blood:	n/a	n/a
46	POLR2A	chr17:46654998-46656953	GM19099	blood:	n/a	n/a
47	POLR2A	chr17:46654919-46656704	K562	blood:	n/a	n/a
48	POLR2A	chr17:46655912-46657002	HUVEC	blood vessel:	n/a	n/a
49	POLR2A	chr17:46655901-46656657	ECC-1	luminal epithelium:	n/a	n/a
50	ZBTB7A	chr17:46655481-46656391	K562	blood:	n/a	chr17:46656174-46656183

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr17:46582924..46585539-chr17:46653556..46656243,2	MCF-7	breast:
2	chr17:46517956..46520413-chr17:46654283..46656139,2	K562	blood:

Variant related genes	Relation type
HOXB3	TF binding region

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2288280	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2740755	0.98[ASN][1000 genomes]
rs3744776	0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46652800-46656000	Bivalent/Poised TSS	NH-A	brain
2	chr17:46653000-46657200	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr17:46653200-46656400	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
4	chr17:46653400-46660400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
5	chr17:46653600-46656400	Active TSS	Lung	lung
6	chr17:46653600-46656400	Active TSS	HSMM	muscle
7	chr17:46653600-46656800	Active TSS	Esophagus	oesophagus
8	chr17:46653600-46657600	Active TSS	Right Atrium	heart
9	chr17:46653600-46660200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr17:46653800-46656200	Active TSS	NHLF	lung
11	chr17:46653800-46656400	Active TSS	K562	blood
12	chr17:46653800-46656600	Active TSS	Fetal Kidney	kidney
13	chr17:46653800-46658000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr17:46653800-46658000	Active TSS	Colon Smooth Muscle	Colon
15	chr17:46653800-46658400	Active TSS	NHDF-Ad	bronchial
16	chr17:46654000-46656200	Active TSS	Aorta	Aorta
17	chr17:46654000-46656600	Bivalent/Poised TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr17:46654200-46656800	Flanking Active TSS	Colonic Mucosa	Colon
19	chr17:46654200-46657200	Active TSS	HSMMtube	muscle
20	chr17:46654400-46657400	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
21	chr17:46654600-46656200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr17:46654600-46656800	Active TSS	Hela-S3	cervix
23	chr17:46654800-46656000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
24	chr17:46654800-46656000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
25	chr17:46654800-46656000	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr17:46654800-46656000	Bivalent/Poised TSS	Fetal Muscle Trunk	muscle
27	chr17:46654800-46656000	Bivalent/Poised TSS	Skeletal Muscle Male	skeletal muscle
28	chr17:46654800-46656200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr17:46654800-46656200	Active TSS	Gastric	stomach
30	chr17:46654800-46656200	Active TSS	Placenta Amnion	Placenta Amnion
31	chr17:46654800-46656200	Active TSS	Small Intestine	intestine
32	chr17:46654800-46656400	Bivalent/Poised TSS	Fetal Stomach	stomach
33	chr17:46654800-46656600	Bivalent/Poised TSS	Osteobl	bone
34	chr17:46655000-46656000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
35	chr17:46655000-46656000	Active TSS	Right Ventricle	heart
36	chr17:46655000-46656000	Bivalent/Poised TSS	Skeletal Muscle Female	skeletal muscle
37	chr17:46655000-46656000	Active TSS	HUVEC	blood vessel
38	chr17:46655000-46656200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
39	chr17:46655000-46656200	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
40	chr17:46655000-46656200	Active TSS	Rectal Smooth Muscle	rectum
41	chr17:46655000-46656400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr17:46655000-46656400	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
43	chr17:46655000-46656600	Bivalent/Poised TSS	Fetal Lung	lung
44	chr17:46655000-46656600	Bivalent/Poised TSS	Left Ventricle	heart
45	chr17:46655000-46656800	Bivalent/Poised TSS	NHEK	skin
46	chr17:46655200-46656000	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr17:46655200-46656000	Active TSS	Primary B cells from cord blood	blood
48	chr17:46655200-46656000	Active TSS	Primary B cells from peripheral blood	blood
49	chr17:46655200-46656000	Active TSS	Primary T helper naive cells fromperipheralblood	blood
50	chr17:46655200-46656000	Active TSS	Primary T helper cells PMA-I stimulated	--

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