Variant report

Variant	rs534266295
Chromosome Location	chr11:67186579-67186580
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:14)
CpG islands
(count:61)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:14 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MAFK	chr11:67186481-67186647	HepG2	liver:	n/a	n/a
2	EBF1	chr11:67186558-67186742	GM12878	blood:	n/a	n/a
3	SPI1	chr11:67186546-67186766	GM12878	blood:	n/a	n/a
4	SPI1	chr11:67186192-67187132	GM12878	blood:	n/a	n/a
5	SPI1	chr11:67186525-67186769	K562	blood:	n/a	n/a
6	SPI1	chr11:67186451-67186870	GM12891	blood:	n/a	n/a
7	SPI1	chr11:67186536-67186882	HL-60	blood:	n/a	n/a
8	EBF1	chr11:67186479-67186776	GM12878	blood:	n/a	n/a
9	ELF1	chr11:67186474-67187147	GM12878	blood:	n/a	n/a
10	NFIC	chr11:67186250-67186755	ECC-1	luminal epithelium:	n/a	n/a
11	SPI1	chr11:67186523-67186799	GM12891	blood:	n/a	n/a
12	SPI1	chr11:67186451-67186851	GM12878	blood:	n/a	n/a
13	EBF1	chr11:67186431-67187028	GM12878	blood:	n/a	n/a
14	SPI1	chr11:67186303-67187019	HL-60	blood:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67186575-67186625	GM12878	blood:	n/a
2	chr11:67186575-67186625	ECC-1	luminal epithelium:	n/a
3	chr11:67186575-67186625	Hela-S3	cervix:	n/a
4	chr11:67186575-67186625	H1-hESC	embryonic stem cell:	embryo
5	chr11:67186575-67186625	A549	lung:	n/a
6	chr11:67186575-67186625	MCF10A-Er-Src	breast:	n/a
7	chr11:67186575-67186625	IMR90	lung:	fetal
8	chr11:67186575-67186625	SK-N-SH_RA	brain:	n/a
9	chr11:67186575-67186625	HIPEpiC	eye:	n/a
10	chr11:67186575-67186625	GM06990	blood:	n/a
11	chr11:67186575-67186625	HRE	kidney:	n/a
12	chr11:67186575-67186625	HCT-116	colon:	n/a
13	chr11:67186575-67186625	RPTEC	kidney:	n/a
14	chr11:67186575-67186625	HL-60	blood:	n/a
15	chr11:67186575-67186625	HepG2	liver:	n/a
16	chr11:67186575-67186625	GM12891	blood:	n/a
17	chr11:67186575-67186625	GM12892	blood:	n/a
18	chr11:67186575-67186625	HMEC	breast:	n/a
19	chr11:67186575-67186625	AG10803	skin:	n/a
20	chr11:67186575-67186625	HCF	heart:	n/a
21	chr11:67186575-67186625	HRCEpiC	kidney:	n/a
22	chr11:67186575-67186625	HCPEpiC	choroid plexus:	n/a
23	chr11:67186575-67186625	AG09319	gingival:	n/a
24	chr11:67186575-67186625	BE2_C	brain:	n/a
25	chr11:67186575-67186625	HEEpiC	esophagus:	n/a
26	chr11:67186575-67186625	PFSK-1	brain:	n/a
27	chr11:67186575-67186625	MCF-7	breast:	n/a
28	chr11:67186575-67186625	Hepatocyte	liver:	n/a
29	chr11:67186575-67186625	ovcar-3	ovarian:	n/a
30	chr11:67186575-67186625	NT2-D1	testis:	n/a
31	chr11:67186575-67186625	NH-A	brain:	n/a
32	chr11:67186575-67186625	HRPEpiC	eye:	n/a
33	chr11:67186575-67186625	SK-N-SH	brain:	n/a
34	chr11:67186575-67186625	NHDF-neo	bronchial:	n/a
35	chr11:67186575-67186625	PrEC	prostate:	n/a
36	chr11:67186575-67186625	GM19239	blood:	n/a
37	chr11:67186575-67186625	HUVEC	blood vessel:	n/a
38	chr11:67186575-67186625	HAEpiC	amniotic membrane:	n/a
39	chr11:67186575-67186625	BJ	skin:	n/a
40	chr11:67186575-67186625	LNCaP	prostate:	n/a
41	chr11:67186575-67186625	SAEC	small airway:	n/a
42	chr11:67186575-67186625	SK-N-MC	brain:	n/a
43	chr11:67186575-67186625	Caco-2	colon:	n/a
44	chr11:67186575-67186625	HNPCEpiC	eye:	n/a
45	chr11:67186575-67186625	U87	brain:	n/a
46	chr11:67186575-67186625	SKMC	muscle:	n/a
47	chr11:67186575-67186625	T-47D	breast:	n/a
48	chr11:67186575-67186625	HCM	heart:	n/a
49	chr11:67186575-67186625	Jurkat	blood:	n/a
50	chr11:67186575-67186625	NHBE	bronchial:	n/a

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:67185175..67187264-chr11:67247117..67248962,2	K562	blood:
2	chr11:67185700..67187766-chr11:67250423..67251941,2	K562	blood:
3	chr11:67184903..67187466-chr11:67255096..67257240,2	K562	blood:
4	chr11:67182567..67190511-chr11:67270739..67276166,13	MCF-7	breast:
5	chr11:67185544..67187965-chr11:67270918..67273442,2	MCF-7	breast:
6	chr11:67185549..67189385-chr11:67208691..67212904,6	K562	blood:
7	chr11:67119033..67122416-chr11:67186034..67189246,4	K562	blood:
8	chr11:67184311..67187046-chr11:67307232..67309565,2	K562	blood:
9	chr11:67123845..67125865-chr11:67186294..67189193,2	K562	blood:
10	chr11:67186236..67188568-chr11:67242107..67244785,2	MCF-7	breast:

No data

Variant related genes	Relation type
CARNS1	TF binding region
CARNS1	CpG island
ENSG00000172725	Chromatin interaction
ENSG00000110697	Chromatin interaction
ENSG00000175482	Chromatin interaction
ENSG00000244152	Chromatin interaction
ENSG00000167797	Chromatin interaction
ENSG00000110711	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:27 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531397	chr11:66653381-67465721	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
2	nsv897797	chr11:67023040-67293234	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	206 gene(s)	inside rSNPs	diseases
3	nsv1043037	chr11:67027193-67357425	Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	213 gene(s)	inside rSNPs	diseases
4	nsv897801	chr11:67033076-67432479	Bivalent Enhancer Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
5	nsv1048230	chr11:67058231-67252397	Active TSS Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
6	nsv897804	chr11:67090571-67224278	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv1039205	chr11:67135246-67252397	Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Weak transcription 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	122 gene(s)	inside rSNPs	diseases
8	esv1818769	chr11:67138811-67300457	Flanking Active TSS Active TSS Genic enhancers Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
9	esv1798859	chr11:67139954-67272983	Active TSS Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer 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	154 gene(s)	inside rSNPs	diseases
10	nsv897805	chr11:67155210-67283891	ZNF genes & repeats Flanking Active TSS Genic enhancers Enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
11	nsv897806	chr11:67155210-67294308	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Genic enhancers Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
12	nsv897807	chr11:67155210-67414492	Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
13	nsv897808	chr11:67155210-67419855	Flanking Active TSS Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
14	nsv897809	chr11:67156875-67276235	Active TSS Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
15	nsv555254	chr11:67164495-67288594	Weak transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	146 gene(s)	inside rSNPs	diseases
16	nsv534229	chr11:67164667-67411909	Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	175 gene(s)	inside rSNPs	diseases
17	nsv897810	chr11:67166310-67196237	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases
18	nsv897811	chr11:67166984-67218909	Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
19	nsv897812	chr11:67174597-67198887	Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
20	nsv897813	chr11:67175692-67283891	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
21	nsv521723	chr11:67175692-67311258	Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
22	nsv555255	chr11:67177797-67191449	Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
23	esv1847460	chr11:67182600-67219337	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
24	nsv524096	chr11:67186000-67224988	Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
25	nsv468604	chr11:67186000-67283891	Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Genic enhancers Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
26	nsv555256	chr11:67186000-67283891	Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
27	esv1811233	chr11:67186271-67193108	Flanking Active TSS Genic enhancers Weak transcription Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:95 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67182400-67187200	Enhancers	Pancreas	Pancrea
2	chr11:67182600-67187600	Enhancers	Rectal Mucosa Donor 29	rectum
3	chr11:67182600-67188000	Enhancers	Spleen	Spleen
4	chr11:67183000-67186600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr11:67183000-67186800	Weak transcription	Rectal Smooth Muscle	rectum
6	chr11:67183000-67187600	Enhancers	Fetal Thymus	thymus
7	chr11:67183000-67187600	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr11:67183000-67187600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr11:67183000-67187800	Enhancers	Primary hematopoietic stem cells	blood
10	chr11:67183000-67188000	Enhancers	Esophagus	oesophagus
11	chr11:67183000-67188000	Enhancers	Fetal Lung	lung
12	chr11:67183200-67187600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr11:67183200-67188000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr11:67183400-67187800	Enhancers	Right Ventricle	heart
15	chr11:67183400-67188000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr11:67183400-67188000	Enhancers	Left Ventricle	heart
17	chr11:67183400-67188200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
18	chr11:67183400-67188200	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
19	chr11:67183600-67186600	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr11:67183600-67187600	Weak transcription	Osteobl	bone
21	chr11:67183600-67187800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
22	chr11:67183600-67188000	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr11:67183600-67188000	Enhancers	Right Atrium	heart
24	chr11:67183600-67188200	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
25	chr11:67183800-67187800	Weak transcription	NHDF-Ad	bronchial
26	chr11:67183800-67188000	Enhancers	Gastric	stomach
27	chr11:67184000-67187800	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr11:67184200-67187400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr11:67184200-67187600	Weak transcription	Aorta	Aorta
30	chr11:67184200-67188200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
31	chr11:67184200-67188800	Enhancers	Placenta	Placenta
32	chr11:67184400-67187600	Weak transcription	Colon Smooth Muscle	Colon
33	chr11:67184400-67187800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr11:67184400-67188000	Enhancers	Psoas Muscle	Psoas
35	chr11:67184600-67187400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr11:67184600-67187600	Enhancers	Primary B cells from cord blood	blood
37	chr11:67184600-67187600	Weak transcription	Fetal Kidney	kidney
38	chr11:67184600-67187800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr11:67184600-67187800	Enhancers	Brain Angular Gyrus	brain
40	chr11:67184800-67187200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr11:67184800-67187200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
42	chr11:67184800-67187600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
43	chr11:67184800-67187800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr11:67184800-67188000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr11:67184800-67188200	Flanking Active TSS	Primary T cells from cord blood	blood
46	chr11:67185000-67186600	Weak transcription	Stomach Mucosa	stomach
47	chr11:67185000-67186800	Weak transcription	Hela-S3	cervix
48	chr11:67185000-67187000	Enhancers	Brain Cingulate Gyrus	brain
49	chr11:67185000-67187600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr11:67185000-67187800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood

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