Variant report

Variant	rs377537062
Chromosome Location	chr11:57243898-57243899
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr11:57243749..57245778-chr11:57264332..57267920,3	MCF-7	breast:
2	chr11:57243051..57244044-chr3:51976563..51977136,2	Hela-S3	cervix:
3	chr11:57243815..57244541-chr7:30543821..30544802,2	Hela-S3	cervix:
4	chr11:57243885..57244747-chr17:16284279..16284941,2	Hela-S3	cervix:
5	chr11:57241042..57244897-chr11:57245318..57249265,7	K562	blood:
6	chr11:57243239..57245827-chr11:57433789..57436480,2	K562	blood:
7	chr11:57238280..57240844-chr11:57241461..57244057,2	K562	blood:
8	chr11:57243206..57244051-chr15:66796884..66797509,2	Hela-S3	cervix:
9	chr11:57227567..57231399-chr11:57243101..57246842,4	MCF-7	breast:
10	chr11:57242576..57245304-chr11:57423792..57425526,2	MCF-7	breast:
11	chr11:57227974..57230199-chr11:57243067..57246052,3	MCF-7	breast:
12	chr11:57243633..57244208-chrX:40944240..40944913,2	Hela-S3	cervix:
13	chr11:57243872..57244499-chr19:18392024..18392697,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000156599	Chromatin interaction
ENSG00000172409	Chromatin interaction
ENSG00000174444	Chromatin interaction
ENSG00000006625	Chromatin interaction
ENSG00000124486	Chromatin interaction
ENSG00000130522	Chromatin interaction
ENSG00000186907	Chromatin interaction
ENSG00000170315	Chromatin interaction
ENSG00000149150	Chromatin interaction
ENSG00000041880	Chromatin interaction
ENSG00000174442	Chromatin interaction

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

Variant overlapped rSNPs/rCNVs (count:4 , 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	esv3404360	chr11:57242601-57245149	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Weak transcription Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:57240400-57244000	Enhancers	Primary monocytes fromperipheralblood	blood
2	chr11:57242000-57244400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:57242000-57244800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
4	chr11:57242200-57244400	Bivalent Enhancer	Fetal Brain Male	brain
5	chr11:57242200-57246400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr11:57242400-57244200	Bivalent Enhancer	Fetal Thymus	thymus
7	chr11:57242600-57244600	Flanking Active TSS	GM12878-XiMat	blood
8	chr11:57242800-57245200	Weak transcription	HepG2	liver
9	chr11:57242800-57247600	Weak transcription	K562	blood
10	chr11:57243200-57244600	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr11:57243200-57244600	Bivalent Enhancer	Fetal Heart	heart
12	chr11:57243200-57244600	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
13	chr11:57243200-57244800	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr11:57243200-57244800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
15	chr11:57243400-57244000	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
16	chr11:57243400-57244000	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
17	chr11:57243400-57244000	Enhancers	Spleen	Spleen
18	chr11:57243400-57244000	Weak transcription	A549	lung
19	chr11:57243400-57244000	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
20	chr11:57243400-57244200	Bivalent Enhancer	Fetal Intestine Large	intestine
21	chr11:57243400-57244400	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
22	chr11:57243400-57244400	Bivalent Enhancer	Fetal Lung	lung
23	chr11:57243400-57244400	Bivalent Enhancer	Placenta	Placenta
24	chr11:57243400-57244600	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr11:57243400-57244600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr11:57243400-57244600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr11:57243400-57244600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
28	chr11:57243400-57244600	Flanking Active TSS	Right Ventricle	heart
29	chr11:57243400-57244600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
30	chr11:57243400-57244800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr11:57243400-57244800	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr11:57243400-57244800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr11:57243600-57244000	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr11:57243600-57244000	Flanking Active TSS	Brain Angular Gyrus	brain
35	chr11:57243600-57244000	Flanking Bivalent TSS/Enh	Colonic Mucosa	Colon
36	chr11:57243600-57244000	Flanking Active TSS	Ovary	ovary
37	chr11:57243600-57244000	Flanking Active TSS	Psoas Muscle	Psoas
38	chr11:57243600-57244000	Flanking Bivalent TSS/Enh	HMEC	breast
39	chr11:57243600-57244000	Flanking Bivalent TSS/Enh	NHLF	lung
40	chr11:57243600-57244200	Bivalent/Poised TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr11:57243600-57244200	Bivalent/Poised TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr11:57243600-57244200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr11:57243600-57244200	Flanking Bivalent TSS/Enh	NHEK	skin
44	chr11:57243600-57244400	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr11:57243600-57244400	Active TSS	Breast Myoepithelial Primary Cells	Breast
46	chr11:57243600-57244400	Flanking Bivalent TSS/Enh	Primary neutrophils fromperipheralblood	blood
47	chr11:57243600-57244400	Flanking Bivalent TSS/Enh	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr11:57243600-57244400	Active TSS	Aorta	Aorta
49	chr11:57243600-57244400	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:57243600-57244400	Bivalent/Poised TSS	Fetal Brain Female	brain

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