Variant report

Variant	rs55652831
Chromosome Location	chr11:46313644-46313645
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr11:46313399-46313672	IMR90	lung:	n/a	n/a
2	POLR2A	chr11:46312104-46313717	U87	brain:	n/a	n/a
3	MAZ	chr11:46311450-46313877	IMR90	lung:	n/a	chr11:46311713-46311722
4	TEAD4	chr11:46313404-46313718	H1-hESC	embryonic stem cell:	n/a	n/a
5	CTCF	chr11:46313500-46313650	BJ	skin:	n/a	n/a
6	TEAD4	chr11:46313335-46313743	H1-hESC	embryonic stem cell:	n/a	n/a
7	TCF12	chr11:46311783-46313793	SK-N-SH	brain:	n/a	chr11:46313557-46313567 chr11:46313558-46313565 chr11:46312419-46312426 chr11:46313239-46313246 chr11:46312418-46312428
8	NFIC	chr11:46311606-46313816	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr11:46264754..46267699-chr11:46310847..46314197,3	K562	blood:
2	chr11:46302896..46305879-chr11:46311547..46314983,4	MCF-7	breast:
3	chr11:46312288..46315333-chr11:46315909..46318764,4	MCF-7	breast:
4	chr11:46257763..46260368-chr11:46312557..46314741,2	K562	blood:
5	chr11:46293083..46308698-chr11:46310742..46320666,35	K562	blood:
6	chr11:46264430..46267699-chr11:46311283..46314197,3	K562	blood:

Variant related genes	Relation type
CREB3L1	TF binding region
ENSG00000157613	Chromatin interaction
ENSG00000255007	Chromatin interaction
ENSG00000254639	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55798544	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56372998	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs60602051	0.89[ASN][1000 genomes]

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	nsv554201	chr11:46281835-46422686	Active TSS Genic enhancers Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv825867	chr11:46303184-46425613	Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:46307200-46317000	Weak transcription	Small Intestine	intestine
2	chr11:46309000-46316800	Weak transcription	GM12878-XiMat	blood
3	chr11:46310000-46316400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr11:46310000-46316800	Enhancers	Placenta Amnion	Placenta Amnion
5	chr11:46310200-46313800	Enhancers	Gastric	stomach
6	chr11:46310200-46316200	Genic enhancers	Fetal Stomach	stomach
7	chr11:46310800-46314000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr11:46310800-46314400	Enhancers	Fetal Lung	lung
9	chr11:46311000-46313800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr11:46311000-46314000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr11:46311000-46314000	Genic enhancers	Fetal Intestine Small	intestine
12	chr11:46311000-46314000	Enhancers	Fetal Kidney	kidney
13	chr11:46311000-46314400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr11:46311200-46313800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr11:46311200-46313800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr11:46311200-46314000	Enhancers	Ovary	ovary
17	chr11:46311200-46316200	Enhancers	Fetal Muscle Leg	muscle
18	chr11:46311400-46313800	Enhancers	Stomach Smooth Muscle	stomach
19	chr11:46311400-46314000	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr11:46311400-46314000	Enhancers	Adipose Nuclei	Adipose
21	chr11:46311400-46314000	Enhancers	Colon Smooth Muscle	Colon
22	chr11:46311400-46314000	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr11:46311400-46314200	Enhancers	ES-I3 Cell Line	embryonic stem cell
24	chr11:46311400-46314200	Enhancers	H1 Cell Line	embryonic stem cell
25	chr11:46311400-46314200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr11:46311400-46314200	Enhancers	Rectal Smooth Muscle	rectum
27	chr11:46311600-46313800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
28	chr11:46311600-46313800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr11:46311600-46313800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr11:46311600-46313800	Enhancers	Cortex derived primary cultured neurospheres	brain
31	chr11:46311600-46314200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
32	chr11:46311600-46314400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr11:46311800-46314000	Enhancers	A549	lung
34	chr11:46312000-46313800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
35	chr11:46312000-46314000	Flanking Active TSS	Muscle Satellite Cultured Cells	--
36	chr11:46312000-46314800	Enhancers	Fetal Muscle Trunk	muscle
37	chr11:46312200-46314200	Enhancers	Colonic Mucosa	Colon
38	chr11:46312200-46314800	Weak transcription	Sigmoid Colon	Sigmoid Colon
39	chr11:46312200-46315400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr11:46312200-46316400	Weak transcription	Left Ventricle	heart
41	chr11:46312200-46316600	Weak transcription	Right Atrium	heart
42	chr11:46312200-46316600	Weak transcription	Spleen	Spleen
43	chr11:46312400-46313800	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr11:46312400-46314000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr11:46312400-46314000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr11:46312600-46314000	Enhancers	HUES6 Cell Line	embryonic stem cell
47	chr11:46312600-46314000	Flanking Active TSS	Osteobl	bone
48	chr11:46312600-46316200	Weak transcription	Lung	lung
49	chr11:46312800-46313800	Enhancers	HUES48 Cell Line	embryonic stem cell
50	chr11:46312800-46313800	Enhancers	iPS-20b Cell Line	embryonic stem cell

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