Variant report

Variant	rs4391820
Chromosome Location	chr11:63441372-63441373
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:7)
CpG islands
(count:61)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:7 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	FOS	chr11:63440589-63441478	MCF10A-Er-Src	breast:	n/a	chr11:63441241-63441249 chr11:63441241-63441248 chr11:63440751-63440760 chr11:63440843-63440855 chr11:63441241-63441249
2	POLR2A	chr11:63441065-63441493	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr11:63441340-63441490	AG10803	skin:	n/a	n/a
4	MAFK	chr11:63440947-63441436	IMR90	lung:	n/a	chr11:63441129-63441143 chr11:63441131-63441142 chr11:63441126-63441141 chr11:63441094-63441105 chr11:63441130-63441141
5	FOS	chr11:63441028-63441389	MCF10A-Er-Src	breast:	n/a	chr11:63441241-63441249 chr11:63441241-63441248 chr11:63441241-63441249
6	STAT3	chr11:63441075-63441483	MCF10A-Er-Src	breast:	n/a	n/a
7	MEF2A	chr11:63440903-63441624	SK-N-SH	brain:	n/a	chr11:63441241-63441249 chr11:63441200-63441214

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:63441346-63441396	A549	lung:	n/a
2	chr11:63441346-63441396	HCPEpiC	choroid plexus:	n/a
3	chr11:63441346-63441396	GM12878	blood:	n/a
4	chr11:63441346-63441396	HEK293	kidney:	embryo
5	chr11:63441346-63441396	MCF-7	breast:	n/a
6	chr11:63441346-63441396	HAEpiC	amniotic membrane:	n/a
7	chr11:63441346-63441396	SK-N-SH	brain:	n/a
8	chr11:63441346-63441396	SK-N-MC	brain:	n/a
9	chr11:63441346-63441396	PrEC	prostate:	n/a
10	chr11:63441346-63441396	NT2-D1	testis:	n/a
11	chr11:63441346-63441396	HRPEpiC	eye:	n/a
12	chr11:63441346-63441396	AG04450	lung:	fetal
13	chr11:63441346-63441396	GM06990	blood:	n/a
14	chr11:63441346-63441396	K562	blood:	n/a
15	chr11:63441346-63441396	HCT-116	colon:	n/a
16	chr11:63441346-63441396	AG04449	skin:	fetal
17	chr11:63441346-63441396	LNCaP	prostate:	n/a
18	chr11:63441346-63441396	Caco-2	colon:	n/a
19	chr11:63441346-63441396	Hepatocyte	liver:	n/a
20	chr11:63441346-63441396	CMK	blood:	n/a
21	chr11:63441346-63441396	RPTEC	kidney:	n/a
22	chr11:63441346-63441396	GM12892	blood:	n/a
23	chr11:63441346-63441396	BJ	skin:	n/a
24	chr11:63441346-63441396	NHBE	bronchial:	n/a
25	chr11:63441346-63441396	HIPEpiC	eye:	n/a
26	chr11:63441346-63441396	ProgFib	skin:	n/a
27	chr11:63441346-63441396	SAEC	small airway:	n/a
28	chr11:63441346-63441396	HUVEC	blood vessel:	n/a
29	chr11:63441346-63441396	MCF10A-Er-Src	breast:	n/a
30	chr11:63441346-63441396	HMEC	breast:	n/a
31	chr11:63441346-63441396	SKMC	muscle:	n/a
32	chr11:63441346-63441396	H1-hESC	embryonic stem cell:	embryo
33	chr11:63441346-63441396	AG09309	skin:	n/a
34	chr11:63441346-63441396	NH-A	brain:	n/a
35	chr11:63441346-63441396	HPAEpiC	pulmonary alveolar:	n/a
36	chr11:63441346-63441396	HL-60	blood:	n/a
37	chr11:63441346-63441396	SK-N-SH_RA	brain:	n/a
38	chr11:63441346-63441396	HNPCEpiC	eye:	n/a
39	chr11:63441346-63441396	IMR90	lung:	fetal
40	chr11:63441346-63441396	AoSMC	blood vessel:	n/a
41	chr11:63441346-63441396	NHDF-neo	bronchial:	n/a
42	chr11:63441346-63441396	HepG2	liver:	n/a
43	chr11:63441346-63441396	HRE	kidney:	n/a
44	chr11:63441346-63441396	PANC-1	pancreas:	n/a
45	chr11:63441346-63441396	GM12891	blood:	n/a
46	chr11:63441346-63441396	T-47D	breast:	n/a
47	chr11:63441346-63441396	NB4	blood:	n/a
48	chr11:63441346-63441396	HCM	heart:	n/a
49	chr11:63441346-63441396	HRCEpiC	kidney:	n/a
50	chr11:63441346-63441396	U87	brain:	n/a

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

No.	Distal block	Cell Line	Cell type
1	chr11:63436138..63441406-chr11:63446930..63451361,18	MCF-7	breast:
2	chr11:63437875..63444495-chr11:63445155..63450267,13	K562	blood:
3	chr11:63437131..63441413-chr11:63464952..63468959,4	MCF-7	breast:
4	chr11:63437471..63439910-chr11:63439925..63442077,2	MCF-7	breast:
5	chr11:63440777..63442348-chr11:63447399..63449336,3	MCF-7	breast:
6	chr11:63440853..63444495-chr11:63447183..63450382,6	K562	blood:
7	chr11:63439521..63442499-chr11:63443897..63446850,3	K562	blood:
8	chr11:63441225..63443391-chr11:63450750..63453707,2	K562	blood:
9	chr11:63435682..63438196-chr11:63440536..63442801,2	MCF-7	breast:

No data

Variant related genes	Relation type
ATL3	TF binding region
ATL3	CpG island
ENSG00000271100	Chromatin interaction
ENSG00000133318	Chromatin interaction
ENSG00000184743	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs11231539	1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[TSI][hapmap]
rs11551944	1.00[CHD][hapmap]
rs2957207	1.00[CHD][hapmap]
rs34577629	1.00[CHD][hapmap]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1051171	chr11:62987064-63835715	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer 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 target site	100 gene(s)	inside rSNPs	diseases
2	nsv832183	chr11:63416678-63564565	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:63439200-63445200	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr11:63439200-63448400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr11:63439200-63448400	Weak transcription	Aorta	Aorta
4	chr11:63439600-63441400	Enhancers	Primary neutrophils fromperipheralblood	blood
5	chr11:63439600-63441600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr11:63439600-63441600	Enhancers	Osteobl	bone
7	chr11:63439600-63441800	Enhancers	Muscle Satellite Cultured Cells	--
8	chr11:63439600-63441800	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr11:63439600-63442400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr11:63439600-63448200	Weak transcription	Brain Angular Gyrus	brain
11	chr11:63439600-63448200	Weak transcription	Rectal Smooth Muscle	rectum
12	chr11:63439600-63448400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr11:63439600-63448400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr11:63439600-63448400	Weak transcription	Liver	Liver
15	chr11:63439600-63448400	Weak transcription	Right Ventricle	heart
16	chr11:63439800-63441800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr11:63439800-63448000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr11:63439800-63448000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr11:63439800-63448200	Weak transcription	Fetal Intestine Large	intestine
20	chr11:63440400-63441400	Enhancers	Fetal Heart	heart
21	chr11:63440400-63441400	Enhancers	HepG2	liver
22	chr11:63440400-63441400	Enhancers	NHLF	lung
23	chr11:63440400-63441800	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr11:63440600-63441400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr11:63440600-63442000	Enhancers	HSMMtube	muscle
26	chr11:63440800-63441400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr11:63440800-63441400	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
28	chr11:63440800-63441400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr11:63440800-63441600	Enhancers	NH-A	brain
30	chr11:63440800-63441800	Enhancers	HSMM	muscle
31	chr11:63441000-63441600	Weak transcription	Psoas Muscle	Psoas
32	chr11:63441000-63442200	Weak transcription	Pancreas	Pancrea
33	chr11:63441000-63448200	Weak transcription	A549	lung
34	chr11:63441200-63441400	Enhancers	HMEC	breast
35	chr11:63441200-63441400	Flanking Active TSS	NHDF-Ad	bronchial
36	chr11:63441200-63441600	Enhancers	Adipose Nuclei	Adipose
37	chr11:63441200-63441600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
38	chr11:63441200-63448000	Weak transcription	K562	blood

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