Variant report

Variant	rs55773945
Chromosome Location	chr7:100042413-100042414
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:100036201..100037741-chr7:100039968..100042634,2	MCF-7	breast:
2	chr7:100042220..100044270-chr7:100080413..100082601,2	K562	blood:
3	chr7:100029587..100032466-chr7:100040702..100044115,3	MCF-7	breast:
4	chr7:100040519..100042655-chr7:100075718..100078104,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000166924	Chromatin interaction
ENSG00000266372	Chromatin interaction
ENSG00000166925	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs5015756	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3350965	chr7:99747460-100146105	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
2	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
3	nsv831071	chr7:99918025-100113413	Weak transcription Enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	287 gene(s)	inside rSNPs	diseases
4	nsv527107	chr7:100014711-100064719	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	269 gene(s)	inside rSNPs	diseases
5	nsv888776	chr7:100014711-100198386	Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	297 gene(s)	inside rSNPs	diseases
6	nsv888777	chr7:100014711-100221867	Transcr. at gene 5' and 3' Genic enhancers Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	304 gene(s)	inside rSNPs	diseases
7	nsv888778	chr7:100014711-100236593	Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	310 gene(s)	inside rSNPs	diseases
8	nsv888779	chr7:100014711-100313420	Genic enhancers Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	321 gene(s)	inside rSNPs	diseases
9	nsv888780	chr7:100032665-100198386	Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	81 gene(s)	inside rSNPs	diseases
10	nsv984550	chr7:100034415-100080060	Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs55773945	PILRB	Cis_1M	lymphoblastoid	RTeQTL
rs55773945	PILRB	cis	brain	BrainEAC

Chromatin state (count:94 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100034600-100043800	Weak transcription	NHEK	skin
2	chr7:100034600-100047800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:100034600-100047800	Weak transcription	Brain Angular Gyrus	brain
4	chr7:100034600-100047800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr7:100034600-100047800	Weak transcription	Esophagus	oesophagus
6	chr7:100034600-100047800	Weak transcription	Fetal Brain Female	brain
7	chr7:100034600-100047800	Weak transcription	Rectal Smooth Muscle	rectum
8	chr7:100035000-100042600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr7:100035000-100047800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr7:100035200-100047800	Weak transcription	Thymus	Thymus
11	chr7:100036600-100044200	Enhancers	Placenta	Placenta
12	chr7:100037000-100047800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:100039400-100044400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
14	chr7:100040000-100044600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
15	chr7:100040400-100044400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr7:100040600-100043400	Enhancers	Adipose Nuclei	Adipose
17	chr7:100040600-100044200	Enhancers	Fetal Intestine Large	intestine
18	chr7:100040800-100043400	Enhancers	Fetal Intestine Small	intestine
19	chr7:100041400-100042800	Enhancers	Right Ventricle	heart
20	chr7:100041400-100043000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
21	chr7:100041400-100043600	Enhancers	Fetal Muscle Trunk	muscle
22	chr7:100041400-100043600	Enhancers	Fetal Muscle Leg	muscle
23	chr7:100041400-100044400	Enhancers	Primary hematopoietic stem cells	blood
24	chr7:100041400-100044400	Enhancers	Muscle Satellite Cultured Cells	--
25	chr7:100041400-100044400	Enhancers	NHDF-Ad	bronchial
26	chr7:100041600-100043000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr7:100041600-100043200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr7:100041600-100043200	Enhancers	Osteobl	bone
29	chr7:100041600-100044200	Enhancers	Primary monocytes fromperipheralblood	blood
30	chr7:100041600-100044400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
31	chr7:100041800-100042600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
32	chr7:100041800-100043000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr7:100041800-100043000	Enhancers	Liver	Liver
34	chr7:100041800-100043000	Flanking Active TSS	HepG2	liver
35	chr7:100042000-100042600	Enhancers	iPS-20b Cell Line	embryonic stem cell
36	chr7:100042000-100042600	Enhancers	NH-A	brain
37	chr7:100042000-100042800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
38	chr7:100042000-100042800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr7:100042000-100042800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr7:100042000-100042800	Enhancers	HUES6 Cell Line	embryonic stem cell
41	chr7:100042000-100042800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
42	chr7:100042000-100042800	Enhancers	Brain Hippocampus Middle	brain
43	chr7:100042000-100042800	Enhancers	Colonic Mucosa	Colon
44	chr7:100042000-100042800	Enhancers	Fetal Heart	heart
45	chr7:100042000-100042800	Enhancers	Left Ventricle	heart
46	chr7:100042000-100042800	Enhancers	Pancreas	Pancrea
47	chr7:100042000-100042800	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr7:100042000-100042800	Flanking Active TSS	Hela-S3	cervix
49	chr7:100042000-100042800	Enhancers	HSMM	muscle
50	chr7:100042000-100042800	Flanking Active TSS	K562	blood

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