Variant report

Variant	rs2271803
Chromosome Location	chr17:45400908-45400909
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:277)
CpG islands
(count:0)
Chromatin interactive
region (count:7)
LncRNA
region (count:3)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:277 , 50 per page) page: 1 2 3 4 5 6

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CREB1	chr17:45400695-45401811	HepG2	liver:	n/a	n/a
2	ZBTB7A	chr17:45400618-45401619	K562	blood:	n/a	n/a
3	MAX	chr17:45400728-45402386	A549	lung:	n/a	n/a
4	JUND	chr17:45400812-45401795	A549	lung:	n/a	n/a
5	TEAD4	chr17:45400690-45401520	ECC-1	luminal epithelium:	n/a	n/a
6	POLR2A	chr17:45400836-45402132	IMR90	lung:	n/a	n/a
7	E2F4	chr17:45400687-45401746	MCF10A-Er-Src	breast:	n/a	n/a
8	ELF1	chr17:45400794-45401880	GM12878	blood:	n/a	n/a
9	SIN3AK20	chr17:45400775-45401661	PANC-1	pancreas:	n/a	n/a
10	POLR2A	chr17:45400796-45401741	SK-N-MC	brain:	n/a	n/a
11	MBD4	chr17:45400715-45401772	HepG2	liver:	n/a	n/a
12	MAX	chr17:45400621-45401904	HepG2	liver:	n/a	n/a
13	SETDB1	chr17:45400772-45401848	K562	blood:	n/a	n/a
14	MXI1	chr17:45400898-45401685	HepG2	liver:	n/a	n/a
15	RUNX3	chr17:45400741-45402563	GM12878	blood:	n/a	n/a
16	POLR2A	chr17:45400709-45401762	K562	blood:	n/a	n/a
17	POLR2A	chr17:45400792-45401911	A549	lung:	n/a	n/a
18	MAX	chr17:45400614-45402098	H1-hESC	embryonic stem cell:	n/a	n/a
19	PBX3	chr17:45400790-45402129	A549	lung:	n/a	n/a
20	POLR2A	chr17:45400465-45402245	HUVEC	blood vessel:	n/a	n/a
21	POLR2A	chr17:45400858-45402457	GM12892	blood:	n/a	n/a
22	NFIC	chr17:45400672-45402561	GM12878	blood:	n/a	n/a
23	MYC	chr17:45400601-45401700	K562	blood:	n/a	n/a
24	USF1	chr17:45400615-45401849	ECC-1	luminal epithelium:	n/a	chr17:45401293-45401304
25	NR2F2	chr17:45400860-45401261	K562	blood:	n/a	n/a
26	POLR2A	chr17:45400857-45401914	A549	lung:	n/a	n/a
27	CHD2	chr17:45400846-45401729	K562	blood:	n/a	n/a
28	RCOR1	chr17:45400712-45401747	K562	blood:	n/a	n/a
29	MXI1	chr17:45400566-45402311	GM12878	blood:	n/a	n/a
30	CHD2	chr17:45400833-45401545	Hela-S3	cervix:	n/a	n/a
31	MAX	chr17:45400671-45402245	ECC-1	luminal epithelium:	n/a	n/a
32	YY1	chr17:45400688-45402455	GM12878	blood:	n/a	n/a
33	SIX5	chr17:45400717-45402397	A549	lung:	n/a	n/a
34	TEAD4	chr17:45400605-45401894	K562	blood:	n/a	n/a
35	POLR2A	chr17:45400739-45402032	PANC-1	pancreas:	n/a	n/a
36	TCF7L2	chr17:45400717-45401533	Hela-S3	cervix:	n/a	n/a
37	MXI1	chr17:45400811-45401082	K562	blood:	n/a	n/a
38	HEY1	chr17:45400822-45401630	K562	blood:	n/a	n/a
39	CTCF	chr17:45400894-45401586	K562	blood:	n/a	n/a
40	POLR2A	chr17:45400783-45402166	PANC-1	pancreas:	n/a	n/a
41	HCFC1	chr17:45400496-45402276	Hela-S3	cervix:	n/a	n/a
42	MYBL2	chr17:45400691-45401865	HepG2	liver:	n/a	n/a
43	SIN3A	chr17:45400737-45401951	H1-hESC	embryonic stem cell:	n/a	n/a
44	POLR2A	chr17:45400795-45401963	Hela-S3	cervix:	n/a	n/a
45	POLR2A	chr17:45400905-45402395	GM12878	blood:	n/a	n/a
46	NFIC	chr17:45400840-45401668	ECC-1	luminal epithelium:	n/a	n/a
47	POLR2A	chr17:45400785-45401905	Hela-S3	cervix:	n/a	n/a
48	MXI1	chr17:45400637-45401594	Hela-S3	cervix:	n/a	n/a
49	TEAD4	chr17:45400671-45401278	H1-hESC	embryonic stem cell:	n/a	n/a
50	RAD21	chr17:45400884-45401600	H1-hESC	embryonic stem cell:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr17:45334238..45336850-chr17:45399681..45401766,2	K562	blood:
2	chr17:45234199..45236994-chr17:45399820..45401734,2	MCF-7	breast:
3	chr17:45399600..45403116-chr17:45404916..45409576,7	K562	blood:
4	chr17:45143352..45144907-chr17:45399301..45401186,2	K562	blood:
5	chr17:45400573..45401426-chr9:116172200..116173194,2	Hela-S3	cervix:
6	chr17:45382065..45383991-chr17:45399117..45400961,2	K562	blood:
7	chr17:45143352..45146051-chr17:45399301..45401762,3	K562	blood:

(count:3 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC040934.1-2	chr17:45400564-45401497	ENSG00000247683
2	lnc-AC040934.1-2	chr17:45400903-45400979	ENSG00000263293.1
3	lnc-AC040934.1-2	chr17:45400724-45401156	NONHSAT054295

No data

Variant related genes	Relation type
EFCAB13	TF binding region
ENSG00000238419	Chromatin interaction
ENSG00000262879	Chromatin interaction
ENSG00000004897	Chromatin interaction
ENSG00000263293	Chromatin interaction
ENSG00000148229	Chromatin interaction
ENSG00000178852	Chromatin interaction
ENSG00000157653	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs11079772	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11650072	0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs11658426	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12600865	0.93[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12948299	0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs1969267	0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs2317677	0.82[EUR][1000 genomes]
rs34589418	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35161461	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.94[LWK][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];0.91[YRI][hapmap];0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs35435669	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35983484	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3760372	1.00[ASW][hapmap];0.91[CEU][hapmap];0.93[CHB][hapmap];0.95[CHD][hapmap];0.91[GIH][hapmap];0.94[JPT][hapmap];0.89[LWK][hapmap];1.00[MKK][hapmap];0.90[TSI][hapmap];0.95[YRI][hapmap];0.91[AFR][1000 genomes];0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3809865	1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968314	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4968316	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6504833	0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs6504836	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7214993	0.86[ASW][hapmap];0.81[CEU][hapmap];0.84[MKK][hapmap];0.95[YRI][hapmap];0.83[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs7216112	0.94[JPT][hapmap];0.82[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs7218813	1.00[ASW][hapmap];1.00[CEU][hapmap];0.93[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.95[YRI][hapmap];0.99[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7221232	0.93[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7224753	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7225700	0.85[TSI][hapmap];0.82[EUR][1000 genomes]
rs8075410	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9303534	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9893410	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9894860	0.82[EUR][1000 genomes]
rs9899121	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062983	chr17:45030095-45789543	Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
2	nsv962445	chr17:45397004-45428018	Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs2271803	TBKBP1	cis	lung	GTEx
rs2271803	KPNB1	Cis_1M	lymphoblastoid	RTeQTL
rs2271803	MRPL45P2	cis	lymphoblastoid	seeQTL
rs2271803	TBKBP1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:45400000-45402400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr17:45400200-45401000	Flanking Active TSS	HepG2	liver
3	chr17:45400200-45401000	Flanking Active TSS	HUVEC	blood vessel
4	chr17:45400200-45401600	Active TSS	K562	blood
5	chr17:45400400-45401000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr17:45400400-45401400	Active TSS	Adipose Nuclei	Adipose
7	chr17:45400400-45401400	Active TSS	GM12878-XiMat	blood
8	chr17:45400400-45402400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
9	chr17:45400400-45402400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr17:45400400-45402400	Active TSS	Breast Myoepithelial Primary Cells	Breast
11	chr17:45400400-45402400	Active TSS	Duodenum Smooth Muscle	Duodenum
12	chr17:45400400-45402400	Active TSS	NHLF	lung
13	chr17:45400400-45402600	Active TSS	A549	lung
14	chr17:45400600-45401000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr17:45400600-45401000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
16	chr17:45400600-45401000	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
17	chr17:45400600-45401000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr17:45400600-45401000	Flanking Active TSS	Primary B cells from peripheral blood	blood
19	chr17:45400600-45401000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr17:45400600-45401000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
21	chr17:45400600-45401000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr17:45400600-45401000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
23	chr17:45400600-45401000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
24	chr17:45400600-45401000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
25	chr17:45400600-45401000	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr17:45400600-45401000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
27	chr17:45400600-45401000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr17:45400600-45401000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
29	chr17:45400600-45401000	Active TSS	Fetal Brain Male	brain
30	chr17:45400600-45401000	Flanking Active TSS	Fetal Muscle Leg	muscle
31	chr17:45400600-45401000	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
32	chr17:45400600-45401000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr17:45400600-45401000	Flanking Active TSS	Rectal Smooth Muscle	rectum
34	chr17:45400600-45401000	Flanking Bivalent TSS/Enh	Thymus	Thymus
35	chr17:45400600-45401000	Flanking Active TSS	Hela-S3	cervix
36	chr17:45400600-45401000	Flanking Active TSS	HSMMtube	muscle
37	chr17:45400600-45401000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
38	chr17:45400600-45401000	Flanking Active TSS	Osteobl	bone
39	chr17:45400600-45401200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
40	chr17:45400600-45401200	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
41	chr17:45400600-45401200	Flanking Active TSS	Dnd41	blood
42	chr17:45400600-45401400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr17:45400600-45401400	Active TSS	Cortex derived primary cultured neurospheres	brain
44	chr17:45400600-45401400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
45	chr17:45400600-45401400	Active TSS	Brain Hippocampus Middle	brain
46	chr17:45400600-45401400	Active TSS	Fetal Brain Female	brain
47	chr17:45400600-45401400	Active TSS	Placenta	Placenta
48	chr17:45400600-45401600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
49	chr17:45400600-45401600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr17:45400600-45401600	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell

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