Variant report

Variant	rs7332381
Chromosome Location	chr13:52768200-52768201
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr13:52701771..52705558-chr13:52767896..52769871,3	MCF-7	breast:
2	chr13:52768173..52768983-chr13:53191222..53192131,3	NB4	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NEK3-1	chr13:52766939-52768570	NONHSAT033977

Variant related genes	Relation type
ENSG00000139675	Chromatin interaction
ENSG00000197168	Chromatin interaction
ENSG00000250299	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1000892	0.85[AMR][1000 genomes]
rs17404248	0.85[AMR][1000 genomes]
rs17482550	0.85[AMR][1000 genomes]
rs17482660	0.85[AMR][1000 genomes]
rs17536694	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1886540	0.85[AMR][1000 genomes]
rs1886541	0.85[AMR][1000 genomes]
rs4480685	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4943065	1.00[AMR][1000 genomes]
rs55696957	0.86[AMR][1000 genomes]
rs55969405	0.85[AMR][1000 genomes]
rs57604069	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59763550	1.00[AMR][1000 genomes]
rs59924615	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61247071	0.96[AMR][1000 genomes]
rs7317742	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7325357	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73500202	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73502304	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73502323	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7400215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530718	chr13:52291802-52832752	Enhancers ZNF genes & repeats Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
2	nsv934070	chr13:52362588-53174923	Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Active TSS Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases
3	nsv1040931	chr13:52564792-53350914	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv541773	chr13:52564792-53350914	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
5	nsv1037567	chr13:52643647-52802799	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
6	nsv428288	chr13:52728370-53068132	Weak transcription Active TSS Enhancers Strong transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
7	nsv976116	chr13:52741751-52768674	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:138 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:52743400-52768200	Weak transcription	Small Intestine	intestine
2	chr13:52765800-52768200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr13:52766400-52770000	Active TSS	Right Atrium	heart
4	chr13:52767200-52768200	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
5	chr13:52767200-52768200	Flanking Active TSS	Liver	Liver
6	chr13:52767200-52768400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:52767200-52769000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr13:52767200-52769200	Active TSS	H9 Cell Line	embryonic stem cell
9	chr13:52767200-52769200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr13:52767200-52770000	Active TSS	ES-I3 Cell Line	embryonic stem cell
11	chr13:52767200-52770000	Active TSS	Psoas Muscle	Psoas
12	chr13:52767200-52770200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr13:52767400-52768400	Flanking Active TSS	Adipose Nuclei	Adipose
14	chr13:52767400-52769000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr13:52767400-52769000	Active TSS	iPS-18 Cell Line	embryonic stem cell
16	chr13:52767400-52769200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr13:52767400-52769200	Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr13:52767400-52769200	Active TSS	HUES64 Cell Line	embryonic stem cell
19	chr13:52767400-52769200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr13:52767400-52769400	Active TSS	Right Ventricle	heart
21	chr13:52767400-52769600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr13:52767400-52769600	Active TSS	GM12878-XiMat	blood
23	chr13:52767400-52769800	Active TSS	Muscle Satellite Cultured Cells	--
24	chr13:52767400-52769800	Active TSS	NHDF-Ad	bronchial
25	chr13:52767400-52770000	Active TSS	H1 Cell Line	embryonic stem cell
26	chr13:52767400-52770000	Active TSS	HUES6 Cell Line	embryonic stem cell
27	chr13:52767400-52770000	Active TSS	iPS-15b Cell Line	embryonic stem cell
28	chr13:52767400-52770000	Active TSS	Brain Cingulate Gyrus	brain
29	chr13:52767400-52770000	Active TSS	Colonic Mucosa	Colon
30	chr13:52767400-52770000	Active TSS	Left Ventricle	heart
31	chr13:52767400-52770000	Active TSS	NHLF	lung
32	chr13:52767600-52768200	Flanking Active TSS	Primary T cells from cord blood	blood
33	chr13:52767600-52768200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr13:52767600-52768200	Active TSS	Fetal Brain Female	brain
35	chr13:52767600-52768400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr13:52767600-52768800	Active TSS	Fetal Muscle Trunk	muscle
37	chr13:52767600-52769000	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr13:52767600-52769000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
39	chr13:52767600-52769000	Active TSS	Fetal Thymus	thymus
40	chr13:52767600-52769200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr13:52767600-52769200	Active TSS	Fetal Muscle Leg	muscle
42	chr13:52767600-52769200	Active TSS	Placenta	Placenta
43	chr13:52767600-52769400	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr13:52767600-52769400	Active TSS	A549	lung
45	chr13:52767600-52769400	Active TSS	K562	blood
46	chr13:52767600-52769600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr13:52767600-52769600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr13:52767600-52769600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr13:52767600-52769600	Active TSS	Stomach Smooth Muscle	stomach
50	chr13:52767600-52769800	Active TSS	Duodenum Mucosa	Duodenum

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