Variant report

Variant	rs7112945
Chromosome Location	chr11:46941215-46941216
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

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

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RCOR1	chr11:46941081-46943128	IMR90	lung:	n/a	n/a
2	MXI1	chr11:46941160-46941912	SK-N-SH	brain:	n/a	n/a
3	CTCF	chr11:46941120-46941270	AG10803	skin:	n/a	n/a
4	CTCF	chr11:46941182-46942900	A549	lung:	n/a	n/a
5	CTCF	chr11:46941140-46941290	HCM	heart:	n/a	n/a
6	SMC3	chr11:46939620-46942004	SK-N-SH	brain:	n/a	n/a
7	RAD21	chr11:46941189-46941999	SK-N-SH	brain:	n/a	n/a
8	CTCF	chr11:46941106-46941903	SK-N-SH	brain:	n/a	n/a
9	SIN3A	chr11:46939223-46941795	H1-hESC	embryonic stem cell:	n/a	chr11:46939530-46939540 chr11:46939793-46939806

No data

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

No.	Distal block	Cell Line	Cell type
1	chr11:46936734..46939030-chr11:46940693..46942577,2	K562	blood:
2	chr11:46941127..46942012-chr11:47174363..47175170,3	MCF-7	breast:
3	chr11:46940215..46942455-chr11:47173269..47176322,3	MCF-7	breast:
4	chr11:46941180..46942052-chr11:47174287..47175251,5	K562	blood:
5	chr11:46846941..46849918-chr11:46939245..46941639,2	MCF-7	breast:
6	chr11:46941205..46942113-chr11:47182281..47183725,5	K562	blood:
7	chr11:46941107..46942004-chr11:47044229..47044846,2	K562	blood:

No data

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

Extended variants
information (count: 4 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs12274845	0.82[ASW][hapmap]
rs7117590	0.82[ASW][hapmap]
rs7935192	0.82[ASW][hapmap]

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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46939400-46941600	Enhancers	Fetal Brain Male	brain
2	chr11:46939600-46941400	Bivalent Enhancer	Primary B cells from peripheral blood	blood
3	chr11:46940000-46941400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
4	chr11:46940200-46941800	Enhancers	K562	blood
5	chr11:46940400-46941400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr11:46940400-46941600	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 2	blood
7	chr11:46940400-46941600	Bivalent Enhancer	Primary T helper cells PMA-I stimulated	--
8	chr11:46940400-46941600	Bivalent Enhancer	Primary T killer naive cells fromperipheralblood	blood
9	chr11:46940400-46941800	Enhancers	Fetal Kidney	kidney
10	chr11:46940400-46943000	Enhancers	Skeletal Muscle Female	skeletal muscle
11	chr11:46940600-46941400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr11:46940600-46941400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr11:46940600-46941400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
14	chr11:46940600-46941400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
15	chr11:46940600-46941400	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
16	chr11:46940600-46941400	Enhancers	Fetal Brain Female	brain
17	chr11:46940600-46941400	Enhancers	Rectal Mucosa Donor 29	rectum
18	chr11:46940600-46941600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr11:46940600-46941600	Enhancers	Brain Substantia Nigra	brain
20	chr11:46940600-46941600	Enhancers	Fetal Stomach	stomach
21	chr11:46940600-46941600	Weak transcription	HSMM	muscle
22	chr11:46940600-46941800	Enhancers	Brain Cingulate Gyrus	brain
23	chr11:46940600-46941800	Enhancers	Brain Hippocampus Middle	brain
24	chr11:46940600-46941800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr11:46940600-46941800	Enhancers	Duodenum Mucosa	Duodenum
26	chr11:46940600-46941800	Weak transcription	Psoas Muscle	Psoas
27	chr11:46940600-46941800	Enhancers	Stomach Mucosa	stomach
28	chr11:46940600-46941800	Flanking Active TSS	HepG2	liver
29	chr11:46940600-46942000	Weak transcription	Right Atrium	heart
30	chr11:46940600-46942200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr11:46940600-46942600	Enhancers	Brain Anterior Caudate	brain
32	chr11:46940600-46942800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr11:46940600-46942800	Enhancers	Fetal Muscle Leg	muscle
34	chr11:46940600-46942800	Enhancers	HMEC	breast
35	chr11:46940600-46943000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr11:46940600-46943000	Enhancers	Colon Smooth Muscle	Colon
37	chr11:46940600-46943000	Enhancers	Right Ventricle	heart
38	chr11:46940600-46943000	Enhancers	HUVEC	blood vessel
39	chr11:46940600-46943000	Enhancers	NHEK	skin
40	chr11:46940600-46943200	Enhancers	Muscle Satellite Cultured Cells	--
41	chr11:46940600-46943200	Enhancers	Cortex derived primary cultured neurospheres	brain
42	chr11:46940600-46943200	Enhancers	NHLF	lung
43	chr11:46940600-46943200	Enhancers	Osteobl	bone
44	chr11:46940600-46943400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:46940600-46943800	Enhancers	Fetal Lung	lung
46	chr11:46940600-46949600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr11:46940600-46951400	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr11:46940800-46941400	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
49	chr11:46940800-46941400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
50	chr11:46940800-46941400	Enhancers	Brain Germinal Matrix	brain

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