Variant report

Variant	rs576230114
Chromosome Location	chr11:46940652-46940653
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:0)
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	SMC3	chr11:46939620-46942004	SK-N-SH	brain:	n/a	n/a
2	TCF12	chr11:46940392-46940682	H1-hESC	embryonic stem cell:	n/a	n/a
3	SIN3A	chr11:46939223-46941795	H1-hESC	embryonic stem cell:	n/a	chr11:46939530-46939540 chr11:46939793-46939806

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

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr11:46940613-46940663	GM12891	blood:	n/a
2	chr11:46940613-46940663	NT2-D1	testis:	n/a
3	chr11:46940613-46940663	GM12878	blood:	n/a
4	chr11:46940613-46940663	NHBE	bronchial:	n/a
5	chr11:46940613-46940663	SAEC	small airway:	n/a
6	chr11:46940613-46940663	HCM	heart:	n/a
7	chr11:46940613-46940663	HCT-116	colon:	n/a
8	chr11:46940613-46940663	NH-A	brain:	n/a
9	chr11:46940613-46940663	ProgFib	skin:	n/a
10	chr11:46940613-46940663	HRCEpiC	kidney:	n/a
11	chr11:46940613-46940663	A549	lung:	n/a
12	chr11:46940613-46940663	HAEpiC	amniotic membrane:	n/a
13	chr11:46940613-46940663	U87	brain:	n/a
14	chr11:46940613-46940663	HL-60	blood:	n/a
15	chr11:46940613-46940663	H1-hESC	embryonic stem cell:	embryo
16	chr11:46940613-46940663	SK-N-SH	brain:	n/a
17	chr11:46940613-46940663	PANC-1	pancreas:	n/a
18	chr11:46940613-46940663	GM06990	blood:	n/a
19	chr11:46940613-46940663	NHDF-neo	bronchial:	n/a
20	chr11:46940613-46940663	BE2_C	brain:	n/a
21	chr11:46940613-46940663	Jurkat	blood:	n/a
22	chr11:46940613-46940663	ECC-1	luminal epithelium:	n/a
23	chr11:46940613-46940663	SK-N-MC	brain:	n/a
24	chr11:46940613-46940663	HRPEpiC	eye:	n/a
25	chr11:46940613-46940663	HMEC	breast:	n/a
26	chr11:46940613-46940663	HNPCEpiC	eye:	n/a
27	chr11:46940613-46940663	HPAEpiC	pulmonary alveolar:	n/a
28	chr11:46940613-46940663	PrEC	prostate:	n/a
29	chr11:46940613-46940663	NB4	blood:	n/a
30	chr11:46940613-46940663	CMK	blood:	n/a
31	chr11:46940613-46940663	HIPEpiC	eye:	n/a
32	chr11:46940613-46940663	PFSK-1	brain:	n/a
33	chr11:46940613-46940663	RPTEC	kidney:	n/a
34	chr11:46940613-46940663	HCF	heart:	n/a
35	chr11:46940613-46940663	AG10803	skin:	n/a
36	chr11:46940613-46940663	Hepatocyte	liver:	n/a
37	chr11:46940613-46940663	AG04450	lung:	fetal
38	chr11:46940613-46940663	AG09309	skin:	n/a
39	chr11:46940613-46940663	BJ	skin:	n/a
40	chr11:46940613-46940663	GM12892	blood:	n/a
41	chr11:46940613-46940663	MCF10A-Er-Src	breast:	n/a
42	chr11:46940613-46940663	SK-N-SH_RA	brain:	n/a
43	chr11:46940613-46940663	AoSMC	blood vessel:	n/a
44	chr11:46940613-46940663	AG04449	skin:	fetal
45	chr11:46940613-46940663	HEEpiC	esophagus:	n/a
46	chr11:46940613-46940663	ovcar-3	ovarian:	n/a
47	chr11:46940613-46940663	HRE	kidney:	n/a
48	chr11:46940613-46940663	Hela-S3	cervix:	n/a
49	chr11:46940613-46940663	K562	blood:	n/a
50	chr11:46940613-46940663	HEK293	kidney:	embryo

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

No.	Distal block	Cell Line	Cell type
1	chr11:46938691..46940925-chr17:56734920..56736797,2	MCF-7	breast:
2	chr11:46940215..46942455-chr11:47173269..47176322,3	MCF-7	breast:
3	chr11:46846941..46849918-chr11:46939245..46941639,2	MCF-7	breast:

No data

Variant related genes	Relation type
LRP4	TF binding region
LRP4	CpG island
ENSG00000202077	Chromatin interaction
ENSG00000149179	Chromatin interaction
ENSG00000175216	Chromatin interaction

Extended variants
information (count: 1 )
Associated
traits (count: 0)

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3354576	chr11:46938801-46941349	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46938000-46940800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr11:46938000-46940800	Active TSS	H9 Cell Line	embryonic stem cell
3	chr11:46938000-46941200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr11:46938200-46941000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
5	chr11:46939400-46941600	Enhancers	Fetal Brain Male	brain
6	chr11:46939600-46940800	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr11:46939600-46940800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr11:46939600-46941400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
9	chr11:46939800-46940800	Active TSS	Colonic Mucosa	Colon
10	chr11:46939800-46941000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr11:46940000-46940800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
12	chr11:46940000-46941400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
13	chr11:46940200-46940800	Bivalent Enhancer	GM12878-XiMat	blood
14	chr11:46940200-46941800	Enhancers	K562	blood
15	chr11:46940400-46940800	Active TSS	ES-I3 Cell Line	embryonic stem cell
16	chr11:46940400-46940800	Flanking Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr11:46940400-46940800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
18	chr11:46940400-46940800	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
19	chr11:46940400-46940800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells short term culture	blood
20	chr11:46940400-46940800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr11:46940400-46940800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr11:46940400-46940800	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr11:46940400-46940800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr11:46940400-46940800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr11:46940400-46940800	Flanking Active TSS	Brain Germinal Matrix	brain
26	chr11:46940400-46940800	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
27	chr11:46940400-46940800	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
28	chr11:46940400-46940800	Flanking Active TSS	A549	lung
29	chr11:46940400-46940800	Flanking Active TSS	Hela-S3	cervix
30	chr11:46940400-46940800	Flanking Active TSS	HSMMtube	muscle
31	chr11:46940400-46940800	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
32	chr11:46940400-46941000	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
33	chr11:46940400-46941000	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr11:46940400-46941000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr11:46940400-46941000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr11:46940400-46941000	Enhancers	Fetal Heart	heart
37	chr11:46940400-46941000	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
38	chr11:46940400-46941000	Flanking Active TSS	Rectal Smooth Muscle	rectum
39	chr11:46940400-46941000	Flanking Active TSS	Stomach Smooth Muscle	stomach
40	chr11:46940400-46941000	Flanking Active TSS	NH-A	brain
41	chr11:46940400-46941200	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr11:46940400-46941200	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr11:46940400-46941200	Bivalent Enhancer	Primary T helper naive cells from peripheral blood	blood
44	chr11:46940400-46941200	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr11:46940400-46941400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr11:46940400-46941600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
47	chr11:46940400-46941600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
48	chr11:46940400-46941600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
49	chr11:46940400-46941800	Enhancers	Fetal Kidney	kidney
50	chr11:46940400-46943000	Enhancers	Skeletal Muscle Female	skeletal muscle

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