Variant report

Variant	rs34163689
Chromosome Location	chr11:32460676-32460677
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:13)
CpG islands
(count:61)
Chromatin interactive
region (count:1)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:13 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr11:32458391-32461056	H1-neurons	neurons:	n/a	n/a
2	SUZ12	chr11:32453725-32461544	NT2-D1	testis:	n/a	n/a
3	GATA3	chr11:32460585-32460815	T-47D	breast:	n/a	n/a
4	REST	chr11:32460425-32460733	SK-N-SH	brain:	n/a	n/a
5	POLR2A	chr11:32460322-32460877	K562	blood:	n/a	n/a
6	FOXA1	chr11:32460508-32460899	T-47D	breast:	n/a	n/a
7	POLR2A	chr11:32458208-32461069	H1-neurons	neurons:	n/a	n/a
8	FOXA1	chr11:32460550-32460817	T-47D	breast:	n/a	n/a
9	SUZ12	chr11:32459091-32461237	H1-hESC	embryonic stem cell:	n/a	n/a
10	FOXA2	chr11:32460622-32460761	HepG2	liver:	n/a	n/a
11	TCF7L2	chr11:32460616-32460708	Hela-S3	cervix:	n/a	n/a
12	POLR2A	chr11:32459318-32464847	K562	blood:	n/a	n/a
13	CTBP2	chr11:32459296-32460879	H1-hESC	embryonic stem cell:	n/a	n/a

(count:61 , 50 per page) page: 1 2

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:32460656-32460706	NH-A	brain:	n/a
2	chr11:32460656-32460706	GM12892	blood:	n/a
3	chr11:32460656-32460706	MCF-7	breast:	n/a
4	chr11:32460656-32460706	HRCEpiC	kidney:	n/a
5	chr11:32460656-32460706	LNCaP	prostate:	n/a
6	chr11:32460656-32460706	HCM	heart:	n/a
7	chr11:32460656-32460706	ovcar-3	ovarian:	n/a
8	chr11:32460656-32460706	HAEpiC	amniotic membrane:	n/a
9	chr11:32460656-32460706	Jurkat	blood:	n/a
10	chr11:32460656-32460706	AG04449	skin:	fetal
11	chr11:32460656-32460706	GM12878	blood:	n/a
12	chr11:32460656-32460706	HCPEpiC	choroid plexus:	n/a
13	chr11:32460656-32460706	HPAEpiC	pulmonary alveolar:	n/a
14	chr11:32460656-32460706	HEEpiC	esophagus:	n/a
15	chr11:32460656-32460706	A549	lung:	n/a
16	chr11:32460656-32460706	K562	blood:	n/a
17	chr11:32460656-32460706	NHDF-neo	bronchial:	n/a
18	chr11:32460656-32460706	GM12891	blood:	n/a
19	chr11:32460656-32460706	H1-hESC	embryonic stem cell:	embryo
20	chr11:32460656-32460706	RPTEC	kidney:	n/a
21	chr11:32460656-32460706	HCT-116	colon:	n/a
22	chr11:32460656-32460706	BJ	skin:	n/a
23	chr11:32460656-32460706	PFSK-1	brain:	n/a
24	chr11:32460656-32460706	AoSMC	blood vessel:	n/a
25	chr11:32460656-32460706	HNPCEpiC	eye:	n/a
26	chr11:32460656-32460706	IMR90	lung:	fetal
27	chr11:32460656-32460706	T-47D	breast:	n/a
28	chr11:32460656-32460706	HepG2	liver:	n/a
29	chr11:32460656-32460706	HRPEpiC	eye:	n/a
30	chr11:32460656-32460706	ProgFib	skin:	n/a
31	chr11:32460656-32460706	Hela-S3	cervix:	n/a
32	chr11:32460656-32460706	HIPEpiC	eye:	n/a
33	chr11:32460656-32460706	NHBE	bronchial:	n/a
34	chr11:32460656-32460706	PANC-1	pancreas:	n/a
35	chr11:32460656-32460706	SK-N-MC	brain:	n/a
36	chr11:32460656-32460706	HRE	kidney:	n/a
37	chr11:32460656-32460706	HMEC	breast:	n/a
38	chr11:32460656-32460706	HUVEC	blood vessel:	n/a
39	chr11:32460656-32460706	AG09309	skin:	n/a
40	chr11:32460656-32460706	HL-60	blood:	n/a
41	chr11:32460656-32460706	CMK	blood:	n/a
42	chr11:32460656-32460706	Caco-2	colon:	n/a
43	chr11:32460656-32460706	U87	brain:	n/a
44	chr11:32460656-32460706	MCF10A-Er-Src	breast:	n/a
45	chr11:32460656-32460706	HEK293	kidney:	embryo
46	chr11:32460656-32460706	NT2-D1	testis:	n/a
47	chr11:32460656-32460706	PrEC	prostate:	n/a
48	chr11:32460656-32460706	AG09319	gingival:	n/a
49	chr11:32460656-32460706	SK-N-SH	brain:	n/a
50	chr11:32460656-32460706	AG10803	skin:	n/a

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

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:32460248..32463699-chr11:32486018..32490383,4	K562	blood:

(count:5 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-EIF3M-2	chr11:32459475-32461618	ENSG00000183242
2	lnc-EIF3M-2	chr11:32460418-32460678	ENSG00000183242
3	lnc-EIF3M-2	chr11:32459391-32462950	ENSG00000183242
4	lnc-EIF3M-2	chr11:32459391-32461618	NONHSAT018663
5	lnc-EIF3M-2	chr11:32459391-32461620	NR_023920

No data

Variant related genes	Relation type
WT1	TF binding region
WT1	CpG island

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs10835913	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10835914	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10835915	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10835921	0.88[EUR][1000 genomes]
rs11031778	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11031787	0.83[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11031788	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11031790	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs12222697	0.90[EUR][1000 genomes]
rs12224136	0.90[EUR][1000 genomes]
rs12575247	0.95[AMR][1000 genomes];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1799925	0.95[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2234585	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2418912	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2900753	0.95[EUR][1000 genomes]
rs3858449	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3858451	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs5030141	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs5030171	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs5030193	0.80[AMR][1000 genomes]
rs59518979	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61889251	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs61889255	0.83[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs61889256	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs61891673	0.90[EUR][1000 genomes]
rs61891675	0.82[EUR][1000 genomes]
rs61891678	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832108	chr11:32395937-32560583	Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Weak transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv1044547	chr11:32435753-32465233	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	esv2753303	chr11:32447324-32494924	Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Weak transcription Enhancers 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	7 gene(s)	inside rSNPs	diseases
4	nsv1051559	chr11:32447347-32465233	Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Weak transcription Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:73 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:32457000-32462600	Bivalent/Poised TSS	Fetal Kidney	kidney
2	chr11:32457200-32461000	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
3	chr11:32457600-32460800	Bivalent Enhancer	Fetal Muscle Trunk	muscle
4	chr11:32458600-32461200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
5	chr11:32458600-32461200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
6	chr11:32459200-32460800	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
7	chr11:32459200-32461000	Bivalent Enhancer	Primary B cells from peripheral blood	blood
8	chr11:32459200-32461200	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
9	chr11:32459400-32460800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
10	chr11:32459400-32461000	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
11	chr11:32459400-32461000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
12	chr11:32459600-32461000	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr11:32459600-32461000	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
14	chr11:32459600-32461000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
15	chr11:32459600-32461000	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
16	chr11:32459600-32461000	Bivalent Enhancer	Brain Dorsolateral Prefrontal Cortex	brain
17	chr11:32459600-32461000	Enhancers	Gastric	stomach
18	chr11:32459600-32461000	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
19	chr11:32459600-32461200	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr11:32459600-32461200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
21	chr11:32459600-32461200	Bivalent Enhancer	Adipose Nuclei	Adipose
22	chr11:32459800-32461000	Bivalent Enhancer	Fetal Heart	heart
23	chr11:32459800-32461400	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
24	chr11:32460000-32460800	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
25	chr11:32460000-32460800	Bivalent Enhancer	Brain Anterior Caudate	brain
26	chr11:32460000-32460800	Bivalent Enhancer	Thymus	Thymus
27	chr11:32460000-32461000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
28	chr11:32460000-32461000	Bivalent Enhancer	Primary B cells from cord blood	blood
29	chr11:32460200-32460800	Bivalent Enhancer	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr11:32460200-32461000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr11:32460200-32461000	Bivalent Enhancer	Liver	Liver
32	chr11:32460200-32461200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
33	chr11:32460200-32461600	Active TSS	Ovary	ovary
34	chr11:32460400-32460800	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
35	chr11:32460400-32460800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
36	chr11:32460400-32461000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
37	chr11:32460400-32461000	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
38	chr11:32460400-32461000	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
39	chr11:32460400-32461000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:32460400-32461000	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
41	chr11:32460400-32461000	Enhancers	Pancreas	Pancrea
42	chr11:32460400-32461200	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr11:32460600-32460800	Bivalent Enhancer	HUES48 Cell Line	embryonic stem cell
44	chr11:32460600-32460800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:32460600-32460800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:32460600-32460800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr11:32460600-32460800	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr11:32460600-32460800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
49	chr11:32460600-32460800	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
50	chr11:32460600-32460800	Flanking Bivalent TSS/Enh	Colon Smooth Muscle	Colon

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