Variant report

Variant	rs183057253
Chromosome Location	chr11:57417975-57417976
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:29)
CpG islands
(count:122)
Chromatin interactive
region (count:3)
LncRNA
region (count:5)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:29 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	NRF1	chr11:57417471-57418095	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr11:57415752-57418166	H1-neurons	neurons:	n/a	n/a
3	POLR2A	chr11:57416150-57418100	H1-neurons	neurons:	n/a	n/a
4	POLR2A	chr11:57411937-57420676	H1-hESC	embryonic stem cell:	n/a	n/a
5	POLR2A	chr11:57410796-57421100	H1-hESC	embryonic stem cell:	n/a	n/a
6	ATF2	chr11:57417296-57418126	H1-hESC	embryonic stem cell:	n/a	n/a
7	PBX3	chr11:57414093-57418151	SK-N-SH	brain:	n/a	chr11:57415576-57415585
8	POLR2A	chr11:57412052-57419760	MCF10A-Er-Src	breast:	n/a	n/a
9	POLR2A	chr11:57404829-57418710	PFSK-1	brain:	n/a	n/a
10	POLR2A	chr11:57410821-57420904	H1-hESC	embryonic stem cell:	n/a	n/a
11	REST	chr11:57415812-57418215	H1-neurons	neurons:	n/a	chr11:57416867-57416880 chr11:57416879-57416892 chr11:57415863-57415871 chr11:57417025-57417038 chr11:57416863-57416883
12	ATF2	chr11:57417297-57418086	H1-hESC	embryonic stem cell:	n/a	n/a
13	POLR2A	chr11:57417265-57420354	H1-hESC	embryonic stem cell:	n/a	n/a
14	POLR2A	chr11:57417279-57417992	SK-N-SH	brain:	n/a	n/a
15	POLR2A	chr11:57411922-57418069	SK-N-SH	brain:	n/a	n/a
16	MAZ	chr11:57416322-57418147	IMR90	lung:	n/a	chr11:57417022-57417032
17	POLR2A	chr11:57417075-57418089	U87	brain:	n/a	n/a
18	CHD2	chr11:57413968-57418190	H1-hESC	embryonic stem cell:	n/a	n/a
19	POLR2A	chr11:57412961-57418210	MCF10A-Er-Src	breast:	n/a	n/a
20	POLR2A	chr11:57412201-57418679	ECC-1	luminal epithelium:	n/a	n/a
21	POLR2A	chr11:57417400-57418213	SK-N-MC	brain:	n/a	n/a
22	POLR2A	chr11:57414193-57418271	A549	lung:	n/a	n/a
23	POLR2A	chr11:57417273-57418639	H1-hESC	embryonic stem cell:	n/a	n/a
24	PBX3	chr11:57417269-57418116	A549	lung:	n/a	n/a
25	BCL3	chr11:57414037-57418152	A549	lung:	n/a	chr11:57415102-57415111 chr11:57416249-57416262 chr11:57417016-57417025
26	POLR2A	chr11:57412861-57418587	ECC-1	luminal epithelium:	n/a	n/a
27	POLR2A	chr11:57409804-57420281	PFSK-1	brain:	n/a	n/a
28	POLR2A	chr11:57415000-57418123	IMR90	lung:	n/a	n/a
29	JUN	chr11:57414838-57418082	K562	blood:	n/a	chr11:57415577-57415586 chr11:57417418-57417427 chr11:57415245-57415254 chr11:57417417-57417427 chr11:57417419-57417426 chr11:57417416-57417428 chr11:57417417-57417426 chr11:57417414-57417425

(count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:57417974-57418024	HCT-116	colon:	n/a
2	chr11:57417974-57418024	HRE	kidney:	n/a
3	chr11:57417974-57418024	HPAEpiC	pulmonary alveolar:	n/a
4	chr11:57417949-57417999	SAEC	small airway:	n/a
5	chr11:57417949-57417999	PFSK-1	brain:	n/a
6	chr11:57417949-57417999	NB4	blood:	n/a
7	chr11:57417974-57418024	MCF-7	breast:	n/a
8	chr11:57417974-57418024	MCF10A-Er-Src	breast:	n/a
9	chr11:57417949-57417999	GM06990	blood:	n/a
10	chr11:57417949-57417999	HPAEpiC	pulmonary alveolar:	n/a
11	chr11:57417949-57417999	MCF-7	breast:	n/a
12	chr11:57417949-57417999	AG09319	gingival:	n/a
13	chr11:57417949-57417999	Hela-S3	cervix:	n/a
14	chr11:57417949-57417999	Caco-2	colon:	n/a
15	chr11:57417949-57417999	NT2-D1	testis:	n/a
16	chr11:57417974-57418024	A549	lung:	n/a
17	chr11:57417974-57418024	CMK	blood:	n/a
18	chr11:57417949-57417999	HCM	heart:	n/a
19	chr11:57417974-57418024	Caco-2	colon:	n/a
20	chr11:57417949-57417999	HRCEpiC	kidney:	n/a
21	chr11:57417949-57417999	AG09309	skin:	n/a
22	chr11:57417974-57418024	HIPEpiC	eye:	n/a
23	chr11:57417974-57418024	HRPEpiC	eye:	n/a
24	chr11:57417949-57417999	HRPEpiC	eye:	n/a
25	chr11:57417974-57418024	U87	brain:	n/a
26	chr11:57417974-57418024	HNPCEpiC	eye:	n/a
27	chr11:57417974-57418024	Jurkat	blood:	n/a
28	chr11:57417949-57417999	HL-60	blood:	n/a
29	chr11:57417974-57418024	SK-N-MC	brain:	n/a
30	chr11:57417974-57418024	NHDF-neo	bronchial:	n/a
31	chr11:57417949-57417999	HMEC	breast:	n/a
32	chr11:57417949-57417999	NHBE	bronchial:	n/a
33	chr11:57417974-57418024	HCM	heart:	n/a
34	chr11:57417949-57417999	AG10803	skin:	n/a
35	chr11:57417949-57417999	SKMC	muscle:	n/a
36	chr11:57417949-57417999	U87	brain:	n/a
37	chr11:57417949-57417999	SK-N-MC	brain:	n/a
38	chr11:57417974-57418024	AG09319	gingival:	n/a
39	chr11:57417949-57417999	HUVEC	blood vessel:	n/a
40	chr11:57417974-57418024	HAEpiC	amniotic membrane:	n/a
41	chr11:57417974-57418024	SAEC	small airway:	n/a
42	chr11:57417974-57418024	HCPEpiC	choroid plexus:	n/a
43	chr11:57417949-57417999	MCF10A-Er-Src	breast:	n/a
44	chr11:57417949-57417999	Jurkat	blood:	n/a
45	chr11:57417949-57417999	GM19239	blood:	n/a
46	chr11:57417949-57417999	ECC-1	luminal epithelium:	n/a
47	chr11:57417974-57418024	BE2_C	brain:	n/a
48	chr11:57417949-57417999	HCF	heart:	n/a
49	chr11:57417949-57417999	IMR90	lung:	fetal
50	chr11:57417974-57418024	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type
1	chr11:57416509..57419295-chr11:57509568..57512318,2	K562	blood:
2	chr11:57414343..57418921-chr11:57423216..57427343,7	K562	blood:
3	chr11:57417074..57418991-chr11:57424889..57426673,2	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-ZDHHC5-1	chr11:57417771-57418205	ENSG00000254602.1
2	lnc-ZDHHC5-1	chr11:57417771-57418182	ENSG00000254602.1
3	lnc-ZDHHC5-1	chr11:57417771-57420263	ENSG00000254602.1
4	lnc-ZDHHC5-1	chr11:57417771-57418248	ENSG00000254602.1
5	lnc-ZDHHC5-1	chr11:57417771-57418286	ENSG00000254602.1

No data

Variant related genes	Relation type
YPEL4	TF binding region
YPEL4	CpG island
ENSG00000254732	Chromatin interaction
ENSG00000172409	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044030	chr11:57073395-58035564	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS 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	136 gene(s)	inside rSNPs	diseases
2	nsv541047	chr11:57073395-58035564	Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
3	nsv530621	chr11:57139699-57703639	Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Genic enhancers Bivalent/Poised TSS 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	109 gene(s)	inside rSNPs	diseases
4	nsv832163	chr11:57299354-57481050	Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh 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	80 gene(s)	inside rSNPs	diseases
5	nsv1040913	chr11:57315006-57696122	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
6	nsv832164	chr11:57407617-57578825	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
7	esv992553	chr11:57408294-57419351	Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	37 gene(s)	inside rSNPs	diseases
8	esv3425337	chr11:57416201-57418749	Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
9	esv3417959	chr11:57416576-57418524	Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57413600-57418200	Enhancers	HMEC	breast
2	chr11:57415200-57418200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr11:57415400-57418000	Enhancers	Gastric	stomach
4	chr11:57416200-57418400	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr11:57416600-57418000	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
6	chr11:57416600-57418200	Bivalent Enhancer	Fetal Heart	heart
7	chr11:57417200-57418000	Enhancers	Primary T helper naive cells from peripheral blood	blood
8	chr11:57417200-57418000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
9	chr11:57417200-57418000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
10	chr11:57417200-57418000	Bivalent Enhancer	Duodenum Mucosa	Duodenum
11	chr11:57417200-57418000	Bivalent Enhancer	Fetal Intestine Small	intestine
12	chr11:57417200-57418000	Enhancers	Placenta Amnion	Placenta Amnion
13	chr11:57417200-57418000	Bivalent Enhancer	HUVEC	blood vessel
14	chr11:57417200-57418200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr11:57417200-57418200	Bivalent Enhancer	Fetal Thymus	thymus
16	chr11:57417200-57418600	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr11:57417200-57418600	Bivalent Enhancer	Fetal Muscle Leg	muscle
18	chr11:57417200-57418600	Enhancers	K562	blood
19	chr11:57417400-57418000	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr11:57417400-57418000	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr11:57417400-57418000	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
22	chr11:57417400-57418000	Bivalent Enhancer	Fetal Intestine Large	intestine
23	chr11:57417400-57418200	Flanking Active TSS	Brain Germinal Matrix	brain
24	chr11:57417400-57418400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr11:57417400-57418800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr11:57417600-57418000	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr11:57417600-57418000	Flanking Active TSS	H9 Cell Line	embryonic stem cell
28	chr11:57417600-57418000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
29	chr11:57417600-57418000	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
30	chr11:57417600-57418000	Flanking Bivalent TSS/Enh	iPS-20b Cell Line	embryonic stem cell
31	chr11:57417600-57418000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr11:57417600-57418000	Flanking Active TSS	Primary hematopoietic stem cells	blood
33	chr11:57417600-57418000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr11:57417600-57418000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr11:57417600-57418000	Flanking Active TSS	Brain Anterior Caudate	brain
36	chr11:57417600-57418000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr11:57417600-57418000	Flanking Active TSS	Fetal Brain Male	brain
38	chr11:57417600-57418000	Flanking Active TSS	Fetal Brain Female	brain
39	chr11:57417600-57418000	Flanking Bivalent TSS/Enh	Fetal Kidney	kidney
40	chr11:57417600-57418000	Flanking Bivalent TSS/Enh	Rectal Smooth Muscle	rectum
41	chr11:57417600-57418000	Bivalent Enhancer	Sigmoid Colon	Sigmoid Colon
42	chr11:57417600-57418000	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
43	chr11:57417600-57418000	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
44	chr11:57417600-57418000	Flanking Active TSS	A549	lung
45	chr11:57417600-57418000	Enhancers	HSMM	muscle
46	chr11:57417600-57418000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
47	chr11:57417600-57418000	Bivalent Enhancer	NHEK	skin
48	chr11:57417600-57418200	Flanking Active TSS	H1 Cell Line	embryonic stem cell
49	chr11:57417600-57418200	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
50	chr11:57417600-57418200	Bivalent Enhancer	Colon Smooth Muscle	Colon

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