Variant report

Variant	rs10734538
Chromosome Location	chr11:5707554-5707555
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5707544-5707594	HNPCEpiC	eye:	n/a
2	chr11:5707544-5707594	BE2_C	brain:	n/a
3	chr11:5707544-5707594	GM12878	blood:	n/a
4	chr11:5707544-5707594	Jurkat	blood:	n/a
5	chr11:5707544-5707594	MCF10A-Er-Src	breast:	n/a
6	chr11:5707544-5707594	SK-N-SH_RA	brain:	n/a
7	chr11:5707544-5707594	CMK	blood:	n/a
8	chr11:5707544-5707594	HepG2	liver:	n/a
9	chr11:5707544-5707594	HEEpiC	esophagus:	n/a
10	chr11:5707544-5707594	HRE	kidney:	n/a
11	chr11:5707544-5707594	T-47D	breast:	n/a
12	chr11:5707544-5707594	NHBE	bronchial:	n/a
13	chr11:5707544-5707594	GM19239	blood:	n/a
14	chr11:5707544-5707594	PFSK-1	brain:	n/a
15	chr11:5707544-5707594	GM12892	blood:	n/a
16	chr11:5707544-5707594	HRPEpiC	eye:	n/a
17	chr11:5707544-5707594	U87	brain:	n/a
18	chr11:5707544-5707594	HRCEpiC	kidney:	n/a
19	chr11:5707544-5707594	PANC-1	pancreas:	n/a
20	chr11:5707544-5707594	IMR90	lung:	fetal
21	chr11:5707544-5707594	NH-A	brain:	n/a
22	chr11:5707544-5707594	Hela-S3	cervix:	n/a
23	chr11:5707544-5707594	HEK293	kidney:	embryo
24	chr11:5707544-5707594	HIPEpiC	eye:	n/a
25	chr11:5707544-5707594	AG10803	skin:	n/a
26	chr11:5707544-5707594	SKMC	muscle:	n/a
27	chr11:5707544-5707594	Hepatocyte	liver:	n/a
28	chr11:5707544-5707594	HMEC	breast:	n/a
29	chr11:5707544-5707594	AG09309	skin:	n/a
30	chr11:5707544-5707594	ovcar-3	ovarian:	n/a
31	chr11:5707544-5707594	AG09319	gingival:	n/a
32	chr11:5707544-5707594	Caco-2	colon:	n/a
33	chr11:5707544-5707594	RPTEC	kidney:	n/a
34	chr11:5707544-5707594	AoSMC	blood vessel:	n/a
35	chr11:5707544-5707594	BJ	skin:	n/a
36	chr11:5707544-5707594	AG04449	skin:	fetal
37	chr11:5707544-5707594	ProgFib	skin:	n/a
38	chr11:5707544-5707594	K562	blood:	n/a
39	chr11:5707544-5707594	HCPEpiC	choroid plexus:	n/a
40	chr11:5707544-5707594	MCF-7	breast:	n/a
41	chr11:5707544-5707594	NHDF-neo	bronchial:	n/a
42	chr11:5707544-5707594	NB4	blood:	n/a
43	chr11:5707544-5707594	HL-60	blood:	n/a
44	chr11:5707544-5707594	SK-N-SH	brain:	n/a
45	chr11:5707544-5707594	GM06990	blood:	n/a
46	chr11:5707544-5707594	PrEC	prostate:	n/a
47	chr11:5707544-5707594	GM12891	blood:	n/a
48	chr11:5707544-5707594	NT2-D1	testis:	n/a
49	chr11:5707544-5707594	A549	lung:	n/a
50	chr11:5707544-5707594	LNCaP	prostate:	n/a

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

No.	Distal block	Cell Line	Cell type
1	11:4988858-5002113..11:5707362-5712027	Hela-S3	cervix:
2	chr11:5523660..5528079-chr11:5704615..5707879,4	K562	blood:
3	chr11:5706176..5707758-chr11:5710825..5713115,2	K562	blood:

No data

Variant related genes	Relation type
TRIM22	CpG island
TRIM5	CpG island
ENSG00000196565	Chromatin interaction
ENSG00000167355	Chromatin interaction
ENSG00000225003	Chromatin interaction
ENSG00000213931	Chromatin interaction
ENSG00000132274	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs11038536	1.00[CEU][hapmap]
rs11038541	1.00[CEU][hapmap]
rs11038574	1.00[CEU][hapmap]
rs12786517	0.85[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs16926648	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs1814720	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1814721	0.82[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs4329717	0.82[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4579958	0.82[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4910834	1.00[CEU][hapmap]
rs4910835	1.00[CHB][hapmap];0.85[JPT][hapmap];0.90[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs4992800	0.82[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4992803	0.86[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7124435	1.00[CEU][hapmap];0.82[CHB][hapmap];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs885002	1.00[CHB][hapmap];1.00[JPT][hapmap];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
6	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
7	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
8	nsv1036389	chr11:5695451-6177680	Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
9	nsv540943	chr11:5695451-6177680	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases
10	nsv896948	chr11:5701281-5719667	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:5706200-5710000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr11:5706200-5711000	Weak transcription	Gastric	stomach
3	chr11:5706400-5710000	Weak transcription	Aorta	Aorta
4	chr11:5706400-5710200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr11:5706400-5710200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
6	chr11:5706400-5711000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr11:5706400-5711000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr11:5706400-5711000	Weak transcription	Lung	lung
9	chr11:5706600-5707600	Enhancers	Primary T cells fromperipheralblood	blood
10	chr11:5706600-5709000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
11	chr11:5706600-5709400	Weak transcription	Small Intestine	intestine
12	chr11:5706600-5710000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr11:5706600-5710000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr11:5706600-5710000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr11:5706600-5710000	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr11:5706600-5710000	Weak transcription	Thymus	Thymus
17	chr11:5706600-5710200	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr11:5706600-5710200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr11:5706600-5710200	Weak transcription	Duodenum Mucosa	Duodenum
20	chr11:5706600-5710200	Weak transcription	Fetal Kidney	kidney
21	chr11:5706600-5710200	Weak transcription	Skeletal Muscle Female	skeletal muscle
22	chr11:5706600-5710200	Weak transcription	NHDF-Ad	bronchial
23	chr11:5706600-5710200	Weak transcription	NHLF	lung
24	chr11:5706600-5710400	Weak transcription	HUES48 Cell Line	embryonic stem cell
25	chr11:5706600-5710800	Weak transcription	Fetal Brain Male	brain
26	chr11:5706600-5710800	Weak transcription	Fetal Muscle Trunk	muscle
27	chr11:5706600-5711000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr11:5706600-5711000	Weak transcription	Brain Hippocampus Middle	brain
29	chr11:5706600-5711000	Weak transcription	Brain Substantia Nigra	brain
30	chr11:5706600-5711000	Weak transcription	Colonic Mucosa	Colon
31	chr11:5706600-5711000	Weak transcription	Fetal Heart	heart
32	chr11:5706800-5707600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr11:5706800-5708400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr11:5706800-5709000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
35	chr11:5706800-5709200	Weak transcription	Primary B cells from cord blood	blood
36	chr11:5706800-5709200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr11:5706800-5709600	Weak transcription	Primary T cells from cord blood	blood
38	chr11:5706800-5709600	Weak transcription	Primary hematopoietic stem cells	blood
39	chr11:5706800-5709600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
40	chr11:5706800-5709600	Weak transcription	GM12878-XiMat	blood
41	chr11:5706800-5709800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr11:5706800-5709800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
43	chr11:5706800-5710000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr11:5706800-5710000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
45	chr11:5706800-5710200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr11:5706800-5710200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr11:5706800-5710200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr11:5706800-5710200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr11:5706800-5710200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
50	chr11:5706800-5710200	Weak transcription	Adipose Nuclei	Adipose

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