Variant report

Variant	rs34532219
Chromosome Location	chr11:18549392-18549393
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	YY1	chr11:18549056-18549405	SK-N-SH_RA	brain:	n/a	n/a
2	MXI1	chr11:18547900-18549507	Hela-S3	cervix:	n/a	n/a
3	SMC3	chr11:18547765-18549516	Hela-S3	cervix:	n/a	chr11:18548287-18548297
4	POLR2A	chr11:18547452-18549568	HUVEC	blood vessel:	n/a	n/a
5	FOS	chr11:18549007-18549648	MCF10A-Er-Src	breast:	n/a	n/a
6	MYC	chr11:18549019-18549505	MCF10A-Er-Src	breast:	n/a	n/a
7	POLR2A	chr11:18549377-18549796	MCF-7	breast:	n/a	n/a
8	CEBPB	chr11:18547782-18549468	A549	lung:	n/a	chr11:18549188-18549199
9	POLR2A	chr11:18547906-18549610	K562	blood:	n/a	n/a
10	MYC	chr11:18549238-18549490	MCF10A-Er-Src	breast:	n/a	n/a
11	POLR2A	chr11:18547454-18549716	MCF10A-Er-Src	breast:	n/a	n/a
12	POLR2A	chr11:18547489-18549714	GM12891	blood:	n/a	n/a
13	POLR2A	chr11:18547491-18549640	Hela-S3	cervix:	n/a	n/a
14	GABPA	chr11:18547655-18549480	A549	lung:	n/a	chr11:18548495-18548502
15	POLR2A	chr11:18547292-18549433	MCF10A-Er-Src	breast:	n/a	n/a
16	USF2	chr11:18548698-18549431	Hela-S3	cervix:	n/a	n/a
17	PBX3	chr11:18548189-18549614	SK-N-SH	brain:	n/a	n/a
18	POLR2A	chr11:18547789-18549635	Hela-S3	cervix:	n/a	n/a
19	SIN3A	chr11:18547622-18549443	H1-hESC	embryonic stem cell:	n/a	chr11:18548060-18548071 chr11:18549112-18549121
20	POLR2A	chr11:18548101-18549419	HepG2	liver:	n/a	n/a
21	EP300	chr11:18548800-18549520	Hela-S3	cervix:	n/a	n/a
22	POLR2A	chr11:18547877-18549427	K562	blood:	n/a	n/a
23	POLR2A	chr11:18547838-18549469	GM18505	blood:	n/a	n/a
24	MXI1	chr11:18547434-18549791	IMR90	lung:	n/a	n/a
25	FOS	chr11:18549106-18549442	MCF10A-Er-Src	breast:	n/a	n/a
26	FOS	chr11:18549022-18549481	MCF10A-Er-Src	breast:	n/a	n/a
27	POLR2A	chr11:18547774-18549424	GM12892	blood:	n/a	n/a
28	POLR2A	chr11:18547890-18549648	GM12878	blood:	n/a	n/a
29	POLR2A	chr11:18547746-18549496	GM12892	blood:	n/a	n/a
30	POLR2A	chr11:18548978-18549483	SK-N-SH	brain:	n/a	n/a
31	ARID3A	chr11:18547537-18549440	HepG2	liver:	n/a	n/a
32	POLR2A	chr11:18547848-18549804	K562	blood:	n/a	n/a
33	FOS	chr11:18548050-18549684	HUVEC	blood vessel:	n/a	chr11:18548088-18548102
34	REST	chr11:18547590-18549464	H1-neurons	neurons:	n/a	n/a
35	CEBPB	chr11:18547770-18549490	Hela-S3	cervix:	n/a	chr11:18549188-18549199
36	POLR2A	chr11:18547705-18549580	IMR90	lung:	n/a	n/a
37	CUX1	chr11:18548206-18549514	K562	blood:	n/a	chr11:18548773-18548789
38	JUND	chr11:18548409-18549454	Hela-S3	cervix:	n/a	n/a
39	ZNF274	chr11:18548853-18549775	K562	blood:	n/a	n/a
40	POLR2A	chr11:18549000-18549484	Hela-S3	cervix:	n/a	n/a
41	TBP	chr11:18547788-18549465	Hela-S3	cervix:	n/a	n/a
42	POLR2A	chr11:18547882-18549414	ProgFib	skin:	n/a	n/a
43	POLR2A	chr11:18547752-18549464	PBDE	blood:	n/a	n/a
44	STAT3	chr11:18548881-18549454	MCF10A-Er-Src	breast:	n/a	chr11:18549237-18549245 chr11:18549235-18549246
45	POLR2A	chr11:18547602-18549446	HUVEC	blood vessel:	n/a	n/a
46	POLR2A	chr11:18547693-18549542	SK-N-MC	brain:	n/a	n/a
47	CEBPB	chr11:18549004-18549457	IMR90	lung:	n/a	chr11:18549188-18549199
48	STAT3	chr11:18549065-18549431	MCF10A-Er-Src	breast:	n/a	chr11:18549237-18549245 chr11:18549235-18549246
49	POLR2A	chr11:18547700-18549439	Hela-S3	cervix:	n/a	n/a
50	STAT3	chr11:18549046-18549501	Hela-S3	cervix:	n/a	chr11:18549237-18549245 chr11:18549235-18549246

No.	Distal block	Cell Line	Cell type
1	chr11:18546372..18549758-chr11:18653531..18658575,7	K562	blood:
2	chr11:18546581..18551368-chr11:18654825..18657467,6	K562	blood:
3	chr11:18502477..18505271-chr11:18547847..18549412,2	K562	blood:
4	chr11:18432193..18433875-chr11:18547475..18550164,2	MCF-7	breast:
5	chr11:18547238..18549661-chr11:18600782..18603302,3	MCF-7	breast:
6	chr11:18414795..18417618-chr11:18546727..18549809,4	MCF-7	breast:
7	chr11:18343253..18347316-chr11:18546908..18550670,5	K562	blood:
8	chr11:18415765..18417941-chr11:18547561..18549649,2	K562	blood:
9	chr11:18479966..18482806-chr11:18549124..18551467,2	K562	blood:
10	chr11:18546489..18551340-chr11:18552893..18563258,14	MCF-7	breast:
11	chr11:18414231..18417142-chr11:18548434..18550099,2	K562	blood:
12	chr11:18415399..18418482-chr11:18547632..18550708,3	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-LDHAL6A-1	chr11:18548579-18550760	NONHSAT018294

Variant related genes	Relation type
TSG101	TF binding region
ENSG00000110768	Chromatin interaction
ENSG00000166796	Chromatin interaction
ENSG00000151116	Chromatin interaction
ENSG00000179119	Chromatin interaction
ENSG00000074319	Chromatin interaction
ENSG00000134333	Chromatin interaction
ENSG00000110756	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12792924	1.00[AMR][1000 genomes]
rs12795249	1.00[AMR][1000 genomes]
rs35887178	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949248	chr11:17791822-18692687	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
2	nsv553633	chr11:18311701-19058451	Weak transcription Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	144 gene(s)	inside rSNPs	diseases
3	nsv1038015	chr11:18435855-18558211	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
4	nsv1042155	chr11:18435855-18697576	Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
5	nsv1046886	chr11:18547568-18781448	Flanking Active TSS Weak transcription Strong transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
6	nsv540956	chr11:18547568-18781448	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:18547000-18549600	Active TSS	GM12878-XiMat	blood
2	chr11:18547200-18549400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr11:18547200-18549600	Active TSS	ES-I3 Cell Line	embryonic stem cell
4	chr11:18547200-18549600	Active TSS	H1 Cell Line	embryonic stem cell
5	chr11:18547200-18549600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr11:18547200-18549600	Active TSS	HUES6 Cell Line	embryonic stem cell
7	chr11:18547200-18549600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr11:18547200-18549600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr11:18547200-18549600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr11:18547200-18549600	Active TSS	Fetal Intestine Large	intestine
11	chr11:18547200-18549600	Active TSS	K562	blood
12	chr11:18547200-18549800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr11:18547200-18549800	Active TSS	Psoas Muscle	Psoas
14	chr11:18547200-18549800	Active TSS	Stomach Smooth Muscle	stomach
15	chr11:18547400-18549400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
16	chr11:18547400-18549400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr11:18547400-18549400	Active TSS	Breast Myoepithelial Primary Cells	Breast
18	chr11:18547400-18549400	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr11:18547400-18549400	Active TSS	Colonic Mucosa	Colon
20	chr11:18547400-18549400	Active TSS	Fetal Intestine Small	intestine
21	chr11:18547400-18549400	Active TSS	Fetal Muscle Trunk	muscle
22	chr11:18547400-18549400	Active TSS	Ovary	ovary
23	chr11:18547400-18549400	Active TSS	Right Atrium	heart
24	chr11:18547400-18549600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr11:18547400-18549600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
26	chr11:18547400-18549600	Active TSS	HUES48 Cell Line	embryonic stem cell
27	chr11:18547400-18549600	Active TSS	iPS-18 Cell Line	embryonic stem cell
28	chr11:18547400-18549600	Active TSS	iPS-20b Cell Line	embryonic stem cell
29	chr11:18547400-18549600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
30	chr11:18547400-18549600	Active TSS	HSMMtube	muscle
31	chr11:18547400-18549800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr11:18547400-18549800	Active TSS	Right Ventricle	heart
33	chr11:18547400-18549800	Active TSS	A549	lung
34	chr11:18547600-18549400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr11:18547600-18549400	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
36	chr11:18547600-18549400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
37	chr11:18547600-18549400	Active TSS	Aorta	Aorta
38	chr11:18547600-18549400	Active TSS	Duodenum Mucosa	Duodenum
39	chr11:18547600-18549400	Active TSS	Fetal Brain Male	brain
40	chr11:18547600-18549400	Active TSS	Stomach Mucosa	stomach
41	chr11:18547600-18549600	Active TSS	iPS-15b Cell Line	embryonic stem cell
42	chr11:18547600-18549600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr11:18547600-18549600	Active TSS	HSMM	muscle
44	chr11:18547600-18549600	Active TSS	NHDF-Ad	bronchial
45	chr11:18547800-18549400	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr11:18547800-18549400	Active TSS	Pancreas	Pancrea
47	chr11:18548200-18549400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr11:18548600-18549400	Flanking Active TSS	Primary hematopoietic stem cells	blood
49	chr11:18548600-18549400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
50	chr11:18548600-18549600	Flanking Active TSS	HUVEC	blood vessel

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