Variant report

Variant	rs186547584
Chromosome Location	chr11:67182672-67182673
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:3)
CpG islands
(count:61)
Chromatin interactive
region (count:3)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TBP	chr11:67182598-67182850	H1-hESC	embryonic stem cell:	n/a	n/a
2	ZBTB7A	chr11:67182414-67182818	K562	blood:	n/a	n/a
3	POLR2A	chr11:67182658-67182900	HCT-116	colon:	n/a	n/a

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:67182672-67182722	Hepatocyte	liver:	n/a
2	chr11:67182672-67182722	SK-N-SH_RA	brain:	n/a
3	chr11:67182672-67182722	GM06990	blood:	n/a
4	chr11:67182672-67182722	GM12892	blood:	n/a
5	chr11:67182672-67182722	HNPCEpiC	eye:	n/a
6	chr11:67182672-67182722	AG10803	skin:	n/a
7	chr11:67182672-67182722	HEEpiC	esophagus:	n/a
8	chr11:67182672-67182722	ECC-1	luminal epithelium:	n/a
9	chr11:67182672-67182722	PFSK-1	brain:	n/a
10	chr11:67182672-67182722	ProgFib	skin:	n/a
11	chr11:67182672-67182722	HepG2	liver:	n/a
12	chr11:67182672-67182722	HRPEpiC	eye:	n/a
13	chr11:67182672-67182722	MCF-7	breast:	n/a
14	chr11:67182672-67182722	PrEC	prostate:	n/a
15	chr11:67182672-67182722	NHDF-neo	bronchial:	n/a
16	chr11:67182672-67182722	HAEpiC	amniotic membrane:	n/a
17	chr11:67182672-67182722	ovcar-3	ovarian:	n/a
18	chr11:67182672-67182722	HUVEC	blood vessel:	n/a
19	chr11:67182672-67182722	RPTEC	kidney:	n/a
20	chr11:67182672-67182722	AG09309	skin:	n/a
21	chr11:67182672-67182722	H1-hESC	embryonic stem cell:	embryo
22	chr11:67182672-67182722	GM12891	blood:	n/a
23	chr11:67182672-67182722	BJ	skin:	n/a
24	chr11:67182672-67182722	HCPEpiC	choroid plexus:	n/a
25	chr11:67182672-67182722	AG04450	lung:	fetal
26	chr11:67182672-67182722	U87	brain:	n/a
27	chr11:67182672-67182722	HIPEpiC	eye:	n/a
28	chr11:67182672-67182722	Hela-S3	cervix:	n/a
29	chr11:67182672-67182722	HMEC	breast:	n/a
30	chr11:67182672-67182722	HCT-116	colon:	n/a
31	chr11:67182672-67182722	IMR90	lung:	fetal
32	chr11:67182672-67182722	Jurkat	blood:	n/a
33	chr11:67182672-67182722	NB4	blood:	n/a
34	chr11:67182672-67182722	NHBE	bronchial:	n/a
35	chr11:67182672-67182722	GM12878	blood:	n/a
36	chr11:67182672-67182722	SK-N-MC	brain:	n/a
37	chr11:67182672-67182722	MCF10A-Er-Src	breast:	n/a
38	chr11:67182672-67182722	AoSMC	blood vessel:	n/a
39	chr11:67182672-67182722	GM19239	blood:	n/a
40	chr11:67182672-67182722	K562	blood:	n/a
41	chr11:67182672-67182722	HEK293	kidney:	embryo
42	chr11:67182672-67182722	HPAEpiC	pulmonary alveolar:	n/a
43	chr11:67182672-67182722	CMK	blood:	n/a
44	chr11:67182672-67182722	T-47D	breast:	n/a
45	chr11:67182672-67182722	HL-60	blood:	n/a
46	chr11:67182672-67182722	LNCaP	prostate:	n/a
47	chr11:67182672-67182722	HRE	kidney:	n/a
48	chr11:67182672-67182722	NT2-D1	testis:	n/a
49	chr11:67182672-67182722	SK-N-SH	brain:	n/a
50	chr11:67182672-67182722	A549	lung:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:67182567..67190511-chr11:67270739..67276166,13	MCF-7	breast:
2	chr11:67180570..67183103-chr11:67271029..67272927,2	K562	blood:
3	chr11:67181921..67184734-chr11:67234626..67236825,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CARNS1-2	chr11:67182439-67182687	NONHSAT022419

No data

Variant related genes	Relation type
CARNS1	TF binding region
CARNS1	CpG island
ENSG00000110697	Chromatin interaction
ENSG00000172663	Chromatin interaction
ENSG00000167797	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:28 , 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	nsv897796	chr11:67021518-67186000	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv1047890	chr11:67058231-67184436	Flanking Active TSS Enhancers Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
7	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
8	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
9	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
10	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
11	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
12	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
13	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
14	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
15	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
16	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
17	nsv516453	chr11:67164495-67186000	Genic enhancers Active TSS Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
18	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
19	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
20	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
21	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
22	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
23	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
24	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
25	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
26	esv3396892	chr11:67182001-67184549	Bivalent Enhancer Active TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
27	esv3352884	chr11:67182326-67184374	Bivalent Enhancer Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
28	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

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:67170000-67182800	Weak transcription	Right Atrium	heart
2	chr11:67177800-67183400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr11:67178400-67184200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr11:67181200-67183400	Weak transcription	HSMMtube	muscle
5	chr11:67182200-67183600	Active TSS	Brain Angular Gyrus	brain
6	chr11:67182200-67183600	Active TSS	Brain Inferior Temporal Lobe	brain
7	chr11:67182200-67183600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
8	chr11:67182200-67183800	Active TSS	Brain Cingulate Gyrus	brain
9	chr11:67182200-67183800	Active TSS	Brain Substantia Nigra	brain
10	chr11:67182400-67182800	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:67182400-67182800	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr11:67182400-67182800	Bivalent Enhancer	Adipose Nuclei	Adipose
13	chr11:67182400-67182800	Enhancers	Aorta	Aorta
14	chr11:67182400-67182800	Enhancers	Liver	Liver
15	chr11:67182400-67182800	Enhancers	Esophagus	oesophagus
16	chr11:67182400-67182800	Bivalent Enhancer	Fetal Thymus	thymus
17	chr11:67182400-67182800	Enhancers	Gastric	stomach
18	chr11:67182400-67182800	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
19	chr11:67182400-67182800	Bivalent Enhancer	NHEK	skin
20	chr11:67182400-67183000	Bivalent Enhancer	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr11:67182400-67183000	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
22	chr11:67182400-67183000	Flanking Active TSS	Primary B cells from peripheral blood	blood
23	chr11:67182400-67183000	Flanking Active TSS	Primary T cells from cord blood	blood
24	chr11:67182400-67183000	Flanking Active TSS	Primary T cells fromperipheralblood	blood
25	chr11:67182400-67183000	Flanking Active TSS	Primary hematopoietic stem cells	blood
26	chr11:67182400-67183000	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr11:67182400-67183000	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
28	chr11:67182400-67183000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
29	chr11:67182400-67183000	Flanking Active TSS	Primary Natural Killer cells fromperipheralblood	blood
30	chr11:67182400-67183000	Flanking Active TSS	Brain Anterior Caudate	brain
31	chr11:67182400-67183000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
32	chr11:67182400-67183200	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
33	chr11:67182400-67183200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr11:67182400-67183600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
35	chr11:67182400-67183600	Bivalent Enhancer	Fetal Intestine Small	intestine
36	chr11:67182400-67183600	Flanking Active TSS	Thymus	Thymus
37	chr11:67182400-67183800	Active TSS	H9 Cell Line	embryonic stem cell
38	chr11:67182400-67184200	Bivalent Enhancer	Placenta	Placenta
39	chr11:67182400-67184800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr11:67182400-67185200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr11:67182400-67185400	Enhancers	Lung	lung
42	chr11:67182400-67187200	Enhancers	Pancreas	Pancrea
43	chr11:67182600-67182800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
44	chr11:67182600-67182800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
45	chr11:67182600-67182800	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
46	chr11:67182600-67182800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
47	chr11:67182600-67182800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr11:67182600-67182800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
49	chr11:67182600-67182800	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr11:67182600-67182800	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain

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