Variant report

Variant	rs11038710
Chromosome Location	chr11:5706822-5706823
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:61)
Chromatin interactive
region (count:6)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	GATA1	chr11:5705710-5706836	PBDE	blood:	n/a	chr11:5706018-5706025
2	POLR2A	chr11:5704924-5706864	GM15510	blood:	n/a	n/a
3	CTCF	chr11:5705321-5706844	A549	lung:	n/a	chr11:5705994-5706007
4	POLR2A	chr11:5703536-5706824	IMR90	lung:	n/a	n/a
5	POLR2A	chr11:5704925-5706866	GM12891	blood:	n/a	n/a
6	FOSL1	chr11:5705770-5706836	HCT-116	colon:	n/a	chr11:5706370-5706378
7	JUND	chr11:5705612-5706892	SK-N-SH	brain:	n/a	chr11:5706370-5706378
8	POLR2A	chr11:5704925-5706840	GM12878	blood:	n/a	n/a
9	CEBPB	chr11:5705506-5706822	GM12878	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:5706778-5706828	NB4	blood:	n/a
2	chr11:5706778-5706828	NT2-D1	testis:	n/a
3	chr11:5706778-5706828	AG10803	skin:	n/a
4	chr11:5706778-5706828	NH-A	brain:	n/a
5	chr11:5706778-5706828	HepG2	liver:	n/a
6	chr11:5706778-5706828	HEK293	kidney:	embryo
7	chr11:5706778-5706828	GM19239	blood:	n/a
8	chr11:5706778-5706828	HL-60	blood:	n/a
9	chr11:5706778-5706828	HAEpiC	amniotic membrane:	n/a
10	chr11:5706778-5706828	AG09319	gingival:	n/a
11	chr11:5706778-5706828	PrEC	prostate:	n/a
12	chr11:5706778-5706828	MCF10A-Er-Src	breast:	n/a
13	chr11:5706778-5706828	ProgFib	skin:	n/a
14	chr11:5706778-5706828	T-47D	breast:	n/a
15	chr11:5706778-5706828	HIPEpiC	eye:	n/a
16	chr11:5706778-5706828	HCM	heart:	n/a
17	chr11:5706778-5706828	A549	lung:	n/a
18	chr11:5706778-5706828	AoSMC	blood vessel:	n/a
19	chr11:5706778-5706828	SK-N-SH_RA	brain:	n/a
20	chr11:5706778-5706828	IMR90	lung:	fetal
21	chr11:5706778-5706828	Hepatocyte	liver:	n/a
22	chr11:5706778-5706828	HRCEpiC	kidney:	n/a
23	chr11:5706778-5706828	HUVEC	blood vessel:	n/a
24	chr11:5706778-5706828	LNCaP	prostate:	n/a
25	chr11:5706778-5706828	H1-hESC	embryonic stem cell:	embryo
26	chr11:5706778-5706828	GM12878	blood:	n/a
27	chr11:5706778-5706828	PANC-1	pancreas:	n/a
28	chr11:5706778-5706828	HRE	kidney:	n/a
29	chr11:5706778-5706828	BE2_C	brain:	n/a
30	chr11:5706778-5706828	HCF	heart:	n/a
31	chr11:5706778-5706828	SK-N-SH	brain:	n/a
32	chr11:5706778-5706828	Jurkat	blood:	n/a
33	chr11:5706778-5706828	Hela-S3	cervix:	n/a
34	chr11:5706778-5706828	HMEC	breast:	n/a
35	chr11:5706778-5706828	MCF-7	breast:	n/a
36	chr11:5706778-5706828	HRPEpiC	eye:	n/a
37	chr11:5706778-5706828	U87	brain:	n/a
38	chr11:5706778-5706828	AG04450	lung:	fetal
39	chr11:5706778-5706828	ovcar-3	ovarian:	n/a
40	chr11:5706778-5706828	HCT-116	colon:	n/a
41	chr11:5706778-5706828	CMK	blood:	n/a
42	chr11:5706778-5706828	NHDF-neo	bronchial:	n/a
43	chr11:5706778-5706828	RPTEC	kidney:	n/a
44	chr11:5706778-5706828	SK-N-MC	brain:	n/a
45	chr11:5706778-5706828	HCPEpiC	choroid plexus:	n/a
46	chr11:5706778-5706828	GM12892	blood:	n/a
47	chr11:5706778-5706828	NHBE	bronchial:	n/a
48	chr11:5706778-5706828	GM12891	blood:	n/a
49	chr11:5706778-5706828	Caco-2	colon:	n/a
50	chr11:5706778-5706828	AG04449	skin:	fetal

(count:6 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr11:5523660..5528079-chr11:5704615..5707879,4	K562	blood:
2	chr11:5706176..5707758-chr11:5710825..5713115,2	K562	blood:
3	11:5033143-5038367..11:5700314-5707362	K562	blood:
4	11:4801044-4820112..11:5700314-5707362	H1-hESC	embryonic stem cell:	embryo
5	11:4988858-5002113..11:5700314-5707362	Hela-S3	cervix:
6	chr11:5524818..5527723-chr11:5704615..5707499,2	K562	blood:

No data

Variant related genes	Relation type
TRIM22	TF binding region
TRIM5	TF binding region
TRIM22	CpG island
TRIM5	CpG island
ENSG00000167355	Chromatin interaction
ENSG00000225003	Chromatin interaction
ENSG00000132274	Chromatin interaction
ENSG00000176951	Chromatin interaction
ENSG00000231070	Chromatin interaction
ENSG00000213931	Chromatin interaction
ENSG00000224300	Chromatin interaction
ENSG00000196565	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2133258	1.00[YRI][hapmap]

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	chr11:5705400-5707400	Active TSS	Primary T killer memory cells from peripheral blood	blood
2	chr11:5706200-5710000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr11:5706200-5711000	Weak transcription	Gastric	stomach
4	chr11:5706400-5707200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
5	chr11:5706400-5710000	Weak transcription	Aorta	Aorta
6	chr11:5706400-5710200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr11:5706400-5710200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr11:5706400-5711000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
9	chr11:5706400-5711000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr11:5706400-5711000	Weak transcription	Lung	lung
11	chr11:5706600-5707000	Enhancers	Primary monocytes fromperipheralblood	blood
12	chr11:5706600-5707000	Enhancers	Primary B cells from peripheral blood	blood
13	chr11:5706600-5707000	Enhancers	Primary T helper cells fromperipheralblood	blood
14	chr11:5706600-5707000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr11:5706600-5707400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
16	chr11:5706600-5707400	Enhancers	Fetal Muscle Leg	muscle
17	chr11:5706600-5707600	Enhancers	Primary T cells fromperipheralblood	blood
18	chr11:5706600-5709000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr11:5706600-5709400	Weak transcription	Small Intestine	intestine
20	chr11:5706600-5710000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr11:5706600-5710000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr11:5706600-5710000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr11:5706600-5710000	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr11:5706600-5710000	Weak transcription	Thymus	Thymus
25	chr11:5706600-5710200	Weak transcription	HUES64 Cell Line	embryonic stem cell
26	chr11:5706600-5710200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
27	chr11:5706600-5710200	Weak transcription	Duodenum Mucosa	Duodenum
28	chr11:5706600-5710200	Weak transcription	Fetal Kidney	kidney
29	chr11:5706600-5710200	Weak transcription	Skeletal Muscle Female	skeletal muscle
30	chr11:5706600-5710200	Weak transcription	NHDF-Ad	bronchial
31	chr11:5706600-5710200	Weak transcription	NHLF	lung
32	chr11:5706600-5710400	Weak transcription	HUES48 Cell Line	embryonic stem cell
33	chr11:5706600-5710800	Weak transcription	Fetal Brain Male	brain
34	chr11:5706600-5710800	Weak transcription	Fetal Muscle Trunk	muscle
35	chr11:5706600-5711000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
36	chr11:5706600-5711000	Weak transcription	Brain Hippocampus Middle	brain
37	chr11:5706600-5711000	Weak transcription	Brain Substantia Nigra	brain
38	chr11:5706600-5711000	Weak transcription	Colonic Mucosa	Colon
39	chr11:5706600-5711000	Weak transcription	Fetal Heart	heart
40	chr11:5706800-5707000	Enhancers	A549	lung
41	chr11:5706800-5707200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr11:5706800-5707200	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr11:5706800-5707200	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr11:5706800-5707400	Enhancers	Primary neutrophils fromperipheralblood	blood
45	chr11:5706800-5707400	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr11:5706800-5707400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:5706800-5707400	Enhancers	Dnd41	blood
48	chr11:5706800-5707400	Enhancers	Monocytes-CD14+_RO01746	blood
49	chr11:5706800-5707600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:5706800-5708400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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