Variant report

Variant	rs34527992
Chromosome Location	chr17:46659561-46659562
allele	A/C
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	chr17:46659164-46660059	HUVEC	blood vessel:	n/a	n/a
2	MAX	chr17:46659280-46660435	K562	blood:	n/a	chr17:46659797-46659805
3	POLR2A	chr17:46659217-46660110	K562	blood:	n/a	n/a
4	POLR2A	chr17:46659284-46659703	GM12892	blood:	n/a	n/a
5	UBTF	chr17:46659294-46659955	K562	blood:	n/a	n/a
6	HEY1	chr17:46659133-46660036	K562	blood:	n/a	chr17:46659586-46659601 chr17:46659197-46659212 chr17:46659594-46659609
7	POLR2A	chr17:46658660-46659907	ECC-1	luminal epithelium:	n/a	n/a
8	TAF1	chr17:46659307-46660023	K562	blood:	n/a	n/a
9	BHLHE40	chr17:46659408-46660100	K562	blood:	n/a	chr17:46659590-46659606
10	SUZ12	chr17:46657913-46660550	H1-hESC	embryonic stem cell:	n/a	n/a
11	CTCF	chr17:46659520-46659670	GM12878	blood:	n/a	n/a
12	MAZ	chr17:46659321-46660142	K562	blood:	n/a	chr17:46659797-46659805
13	ZBTB7A	chr17:46659388-46659838	K562	blood:	n/a	chr17:46659629-46659638
14	ZBTB7A	chr17:46659325-46659784	K562	blood:	n/a	chr17:46659629-46659638
15	REST	chr17:46659129-46659821	PANC-1	pancreas:	n/a	chr17:46659202-46659215
16	CHD2	chr17:46659363-46660064	GM12878	blood:	n/a	n/a
17	E2F6	chr17:46659386-46659832	K562	blood:	n/a	chr17:46659594-46659604 chr17:46659597-46659607 chr17:46659630-46659639 chr17:46659602-46659611
18	POLR2A	chr17:46658373-46660633	K562	blood:	n/a	n/a
19	CTCF	chr17:46659560-46659710	HUVEC	blood vessel:	n/a	n/a
20	POLR2A	chr17:46658932-46660085	HUVEC	blood vessel:	n/a	n/a
21	CTBP2	chr17:46658907-46659900	H1-hESC	embryonic stem cell:	n/a	n/a
22	MAX	chr17:46659296-46660164	K562	blood:	n/a	chr17:46659797-46659805
23	CTCF	chr17:46659520-46659670	AG04449	skin:	n/a	n/a
24	POLR2A	chr17:46658970-46660480	IMR90	lung:	n/a	n/a
25	UBTF	chr17:46658772-46660316	K562	blood:	n/a	n/a
26	POLR2A	chr17:46659153-46659802	GM12878	blood:	n/a	n/a
27	POLR2A	chr17:46659235-46659675	HUVEC	blood vessel:	n/a	n/a
28	SUZ12	chr17:46653107-46661081	NT2-D1	testis:	n/a	n/a
29	POLR2A	chr17:46658948-46659737	K562	blood:	n/a	n/a
30	CTCF	chr17:46659520-46659670	GM12873	blood:	n/a	n/a
31	YY1	chr17:46659485-46660119	K562	blood:	n/a	chr17:46659596-46659605 chr17:46659756-46659765 chr17:46659750-46659764 chr17:46659599-46659608 chr17:46659759-46659773 chr17:46659596-46659610 chr17:46659597-46659608 chr17:46659602-46659611
32	CCNT2	chr17:46658928-46659979	K562	blood:	n/a	n/a
33	TBP	chr17:46659552-46660129	K562	blood:	n/a	n/a
34	POLR2A	chr17:46655911-46684927	PANC-1	pancreas:	n/a	n/a
35	CTCF	chr17:46659520-46659670	GM12866	blood:	n/a	n/a
36	POLR2A	chr17:46659454-46659814	HUVEC	blood vessel:	n/a	n/a
37	HMGN3	chr17:46658725-46659797	K562	blood:	n/a	n/a
38	CTCF	chr17:46659520-46659670	GM12869	blood:	n/a	n/a
39	CTCF	chr17:46659556-46659627	GM12891	blood:	n/a	n/a
40	BHLHE40	chr17:46659350-46660233	GM12878	blood:	n/a	chr17:46659590-46659606
41	SIN3AK20	chr17:46658652-46660393	PANC-1	pancreas:	n/a	n/a
42	MAZ	chr17:46659329-46660140	GM12878	blood:	n/a	chr17:46659797-46659805
43	TCF7L2	chr17:46658895-46659979	PANC-1	pancreas:	n/a	n/a
44	ELF1	chr17:46659041-46659950	GM12878	blood:	n/a	chr17:46659599-46659608 chr17:46659594-46659606 chr17:46659596-46659605 chr17:46659756-46659765
45	CHD1	chr17:46655927-46662288	IMR90	lung:	n/a	chr17:46657663-46657673 chr17:46660648-46660658
46	TAF1	chr17:46659380-46660153	K562	blood:	n/a	n/a
47	MXI1	chr17:46659379-46660021	GM12878	blood:	n/a	n/a
48	CTCF	chr17:46659528-46659660	GM10266	blood:	n/a	n/a
49	CTCF	chr17:46659500-46659650	GM12867	blood:	n/a	n/a
50	POLR2A	chr17:46659449-46660154	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr17:46459433..46462163-chr17:46658202..46660838,2	K562	blood:
2	chr17:46525263..46527446-chr17:46657806..46659592,2	K562	blood:
3	chr17:46652243..46654179-chr17:46657727..46659805,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-HOXB4-1	chr17:46656992-46659621	ENSG00000257178.1

Variant related genes	Relation type
MIR10A	TF binding region
HOXB3	TF binding region
HOXB4	TF binding region
ENSG00000200538	Chromatin interaction
ENSG00000120093	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 6 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1062037	0.82[EUR][1000 genomes]
rs1123630	0.80[EUR][1000 genomes]
rs34490194	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs34822124	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35624684	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs35825473	0.83[EUR][1000 genomes]
rs4793589	0.80[EUR][1000 genomes]
rs4793938	0.80[EUR][1000 genomes]
rs4793939	0.80[EUR][1000 genomes]
rs4793943	0.80[EUR][1000 genomes]
rs66459980	0.80[EUR][1000 genomes]
rs872760	0.80[EUR][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

mRNA abundance (count:6)

SNP	Gene	Cis/trans	Tissue	Source
rs34527992	HOXB2	cis	lung	GTEx
rs34527992	HOXB-AS1	cis	Whole Blood	GTEx
rs34527992	HOXB-AS1	cis	lung	GTEx
rs34527992	HOXB2	cis	Thyroid	GTEx
rs34527992	HOXB2	cis	Adipose Subcutaneous	GTEx
rs34527992	HOXB2	cis	Whole Blood	GTEx

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:46653400-46660400	Bivalent/Poised TSS	Duodenum Smooth Muscle	Duodenum
2	chr17:46653600-46660200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr17:46656000-46660600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr17:46656000-46661200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr17:46657800-46659600	Flanking Active TSS	Adipose Nuclei	Adipose
6	chr17:46657800-46660200	Flanking Active TSS	Primary hematopoietic stem cells	blood
7	chr17:46658000-46659800	Bivalent/Poised TSS	Lung	lung
8	chr17:46658000-46661000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr17:46658200-46660000	Bivalent/Poised TSS	Duodenum Mucosa	Duodenum
10	chr17:46658200-46660000	Weak transcription	A549	lung
11	chr17:46658400-46661800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
12	chr17:46658600-46659600	Bivalent/Poised TSS	NHEK	skin
13	chr17:46658600-46659800	Bivalent/Poised TSS	Pancreatic Islets	Pancreatic Islet
14	chr17:46658600-46659800	Active TSS	HSMM	muscle
15	chr17:46658600-46660000	Bivalent/Poised TSS	Psoas Muscle	Psoas
16	chr17:46658600-46660200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
17	chr17:46658800-46659600	Bivalent Enhancer	ES-WA7 Cell Line	embryonic stem cell
18	chr17:46658800-46659600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
19	chr17:46658800-46659600	Bivalent Enhancer	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr17:46658800-46659600	Bivalent Enhancer	iPS-18 Cell Line	embryonic stem cell
21	chr17:46658800-46659600	Flanking Bivalent TSS/Enh	Skeletal Muscle Male	skeletal muscle
22	chr17:46658800-46659600	Active TSS	Stomach Smooth Muscle	stomach
23	chr17:46658800-46659800	Active TSS	Aorta	Aorta
24	chr17:46658800-46659800	Active TSS	Esophagus	oesophagus
25	chr17:46658800-46659800	Active TSS	K562	blood
26	chr17:46658800-46660000	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
27	chr17:46658800-46660000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
28	chr17:46658800-46660000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
29	chr17:46658800-46660000	Bivalent/Poised TSS	Fetal Intestine Small	intestine
30	chr17:46658800-46660000	Bivalent Enhancer	Fetal Thymus	thymus
31	chr17:46658800-46660200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr17:46658800-46660200	Active TSS	Colon Smooth Muscle	Colon
33	chr17:46658800-46660200	Transcr. at gene 5' and 3'	NHLF	lung
34	chr17:46658800-46660400	Active TSS	NHDF-Ad	bronchial
35	chr17:46658800-46660600	Active TSS	Fetal Kidney	kidney
36	chr17:46658800-46665800	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr17:46659000-46659600	Flanking Bivalent TSS/Enh	Primary T helper naive cells fromperipheralblood	blood
38	chr17:46659000-46659600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
39	chr17:46659000-46659600	Active TSS	Spleen	Spleen
40	chr17:46659000-46659800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr17:46659000-46659800	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
42	chr17:46659000-46659800	Flanking Active TSS	Placenta Amnion	Placenta Amnion
43	chr17:46659000-46659800	Active TSS	Sigmoid Colon	Sigmoid Colon
44	chr17:46659000-46660000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr17:46659000-46660000	Flanking Bivalent TSS/Enh	Primary T helper cells PMA-I stimulated	--
46	chr17:46659000-46660000	Active TSS	Muscle Satellite Cultured Cells	--
47	chr17:46659000-46660000	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
48	chr17:46659000-46660000	Bivalent/Poised TSS	Fetal Intestine Large	intestine
49	chr17:46659000-46660000	Bivalent/Poised TSS	Fetal Lung	lung
50	chr17:46659000-46660000	Flanking Bivalent TSS/Enh	Fetal Muscle Trunk	muscle

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