Variant report

Variant	rs6578667
Chromosome Location	chr11:5645659-5645660
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	POLR2A	chr11:5645447-5646558	GM12891	blood:	n/a	n/a
2	STAT2	chr11:5645346-5646501	K562	blood:	n/a	chr11:5646145-5646156 chr11:5646142-5646157
3	TAF1	chr11:5645487-5646525	GM12878	blood:	n/a	n/a
4	POLR2A	chr11:5645105-5647495	GM15510	blood:	n/a	n/a
5	POLR2A	chr11:5644785-5647499	GM12878	blood:	n/a	n/a
6	EP300	chr11:5645605-5646470	GM12878	blood:	n/a	chr11:5646141-5646155
7	STAT1	chr11:5645617-5646235	GM12878	blood:	n/a	chr11:5646145-5646156
8	NFIC	chr11:5645491-5646488	GM12878	blood:	n/a	n/a
9	PML	chr11:5645465-5646918	GM12878	blood:	n/a	chr11:5646196-5646204
10	POLR2A	chr11:5644901-5647851	GM12891	blood:	n/a	n/a
11	WRNIP1	chr11:5645118-5646519	GM12878	blood:	n/a	n/a
12	POLR2A	chr11:5645552-5646486	GM12878	blood:	n/a	n/a
13	POLR2A	chr11:5645501-5647049	GM12891	blood:	n/a	n/a
14	POLR2A	chr11:5644947-5647605	GM12878	blood:	n/a	n/a
15	CUX1	chr11:5645516-5646534	GM12878	blood:	n/a	n/a
16	POLR2A	chr11:5645530-5646451	K562	blood:	n/a	n/a
17	POU2F2	chr11:5645460-5646543	GM12878	blood:	n/a	chr11:5645713-5645735
18	IRF1	chr11:5645639-5646382	K562	blood:	n/a	chr11:5646139-5646153 chr11:5646139-5646152 chr11:5646144-5646155 chr11:5646139-5646152 chr11:5646102-5646123 chr11:5646142-5646156 chr11:5646140-5646154 chr11:5646138-5646158 chr11:5646134-5646155 chr11:5646139-5646152 chr11:5646140-5646150
19	POLR2A	chr11:5645161-5647009	GM12892	blood:	n/a	n/a
20	POLR2A	chr11:5645106-5647425	GM18505	blood:	n/a	n/a
21	POLR2A	chr11:5644986-5647143	GM12878	blood:	n/a	n/a
22	POLR2A	chr11:5645506-5646545	GM12878	blood:	n/a	n/a
23	TBP	chr11:5645452-5646606	GM12878	blood:	n/a	n/a
24	POLR2A	chr11:5645480-5646590	GM12891	blood:	n/a	n/a
25	STAT1	chr11:5645632-5646485	K562	blood:	n/a	chr11:5646145-5646156
26	POLR2A	chr11:5645042-5647444	GM12892	blood:	n/a	n/a
27	BHLHE40	chr11:5645643-5646434	K562	blood:	n/a	n/a
28	POLR2A	chr11:5645162-5647605	GM18951	blood:	n/a	n/a
29	POLR2A	chr11:5645459-5646515	GM12878	blood:	n/a	n/a
30	POLR2A	chr11:5645468-5646469	GM12891	blood:	n/a	n/a
31	POLR2A	chr11:5645184-5646511	GM12878	blood:	n/a	n/a
32	MXI1	chr11:5645522-5647013	GM12878	blood:	n/a	chr11:5646805-5646820
33	POLR2A	chr11:5645399-5646547	MCF10A-Er-Src	breast:	n/a	n/a
34	ZNF384	chr11:5645592-5646520	GM12878	blood:	n/a	n/a
35	IRF1	chr11:5645609-5646463	K562	blood:	n/a	chr11:5646139-5646153 chr11:5646139-5646152 chr11:5646144-5646155 chr11:5646139-5646152 chr11:5646102-5646123 chr11:5646142-5646156 chr11:5646140-5646154 chr11:5646138-5646158 chr11:5646134-5646155 chr11:5646139-5646152 chr11:5646140-5646150
36	RELA	chr11:5645639-5646449	GM19099	blood:	n/a	n/a
37	RFX5	chr11:5645591-5646487	Hela-S3	cervix:	n/a	n/a
38	POLR2A	chr11:5645174-5647386	GM18526	blood:	n/a	n/a
39	POLR2A	chr11:5644777-5647546	GM12878	blood:	n/a	n/a
40	MTA3	chr11:5644962-5646788	GM12878	blood:	n/a	n/a
41	MAX	chr11:5645646-5646541	GM12878	blood:	n/a	n/a
42	CHD1	chr11:5645626-5646380	GM12878	blood:	n/a	n/a
43	POLR2A	chr11:5644930-5647213	GM19193	blood:	n/a	n/a
44	RCOR1	chr11:5645642-5646721	GM12878	blood:	n/a	n/a
45	POLR2A	chr11:5644975-5647097	GM12892	blood:	n/a	n/a
46	RELA	chr11:5644916-5646920	GM12891	blood:	n/a	n/a
47	NFATC1	chr11:5645614-5646517	GM12878	blood:	n/a	n/a
48	MTA3	chr11:5645487-5646426	GM12878	blood:	n/a	n/a
49	SIN3A	chr11:5645548-5646470	GM12878	blood:	n/a	n/a
50	POLR2A	chr11:5644969-5647147	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5638568..5642695-chr11:5644713..5649067,4	K562	blood:

Variant related genes	Relation type
TRIM34	TF binding region
ENSG00000258659	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs11037733	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs11037778	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs16930835	1.00[CEU][hapmap]
rs16930849	1.00[CEU][hapmap]
rs16931067	1.00[TSI][hapmap]
rs16933760	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3751005	1.00[TSI][hapmap]
rs7110703	1.00[EUR][1000 genomes]
rs7123423	1.00[EUR][1000 genomes]
rs7124421	0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7124516	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7124885	0.86[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7125403	1.00[CEU][hapmap]
rs7932400	1.00[EUR][1000 genomes]
rs7934944	1.00[EUR][1000 genomes]
rs7939149	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs7945308	1.00[TSI][hapmap]
rs7947715	1.00[CEU][hapmap]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1046068	chr11:5335943-6063742	Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	89 gene(s)	inside rSNPs	diseases
2	nsv896939	chr11:5497799-5809548	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	nsv553241	chr11:5506034-6203685	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	74 gene(s)	inside rSNPs	diseases
4	nsv1041568	chr11:5585716-5765688	Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	nsv1048455	chr11:5609783-5655393	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv1053414	chr11:5612989-6030212	Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
7	nsv530216	chr11:5614439-6468232	Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
8	nsv896947	chr11:5631972-5659680	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv553273	chr11:5639873-5871831	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6578667	UBQLNL	cis	lymphoblastoid	seeQTL

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5640600-5651600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:5641800-5645800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr11:5642200-5645800	Weak transcription	Fetal Heart	heart
4	chr11:5642400-5645800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
5	chr11:5642800-5645800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr11:5642800-5645800	Weak transcription	HSMMtube	muscle
7	chr11:5642800-5646200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr11:5643000-5645800	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr11:5643000-5646000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr11:5643200-5645800	Weak transcription	HUES6 Cell Line	embryonic stem cell
11	chr11:5643200-5645800	Weak transcription	HUES64 Cell Line	embryonic stem cell
12	chr11:5643200-5645800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
13	chr11:5643200-5646000	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr11:5643400-5645800	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr11:5645000-5646000	Flanking Active TSS	Dnd41	blood
16	chr11:5645000-5647600	Active TSS	Rectal Mucosa Donor 29	rectum
17	chr11:5645200-5645800	Flanking Active TSS	Liver	Liver
18	chr11:5645200-5645800	Flanking Active TSS	A549	lung
19	chr11:5645200-5646000	Flanking Active TSS	Primary T cells from cord blood	blood
20	chr11:5645200-5646000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
21	chr11:5645200-5646400	Active TSS	Primary T helper cells PMA-I stimulated	--
22	chr11:5645400-5645800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr11:5645400-5645800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr11:5645400-5645800	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
25	chr11:5645400-5645800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
26	chr11:5645400-5645800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
27	chr11:5645400-5645800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
28	chr11:5645400-5646000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr11:5645400-5646000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr11:5645400-5646000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
31	chr11:5645400-5646000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
32	chr11:5645400-5646000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
33	chr11:5645400-5646000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr11:5645400-5646000	Enhancers	Placenta Amnion	Placenta Amnion
35	chr11:5645400-5646000	Flanking Active TSS	Hela-S3	cervix
36	chr11:5645400-5646000	Flanking Active TSS	HMEC	breast
37	chr11:5645400-5646000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr11:5645400-5646000	Flanking Active TSS	NHEK	skin
39	chr11:5645400-5646600	Active TSS	Duodenum Smooth Muscle	Duodenum
40	chr11:5645400-5646600	Active TSS	Rectal Smooth Muscle	rectum
41	chr11:5645400-5646800	Active TSS	NHLF	lung
42	chr11:5645400-5647000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
43	chr11:5645400-5647000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr11:5645400-5647400	Flanking Active TSS	Primary B cells from cord blood	blood
45	chr11:5645600-5645800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr11:5645600-5645800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
47	chr11:5645600-5645800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
48	chr11:5645600-5645800	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
49	chr11:5645600-5645800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr11:5645600-5645800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood

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