Variant report

Variant	rs697976
Chromosome Location	chr5:96068767-96068768
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	KAP1	chr5:96068590-96069048	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr5:96067837..96070454-chr5:96104057..96106955,2	K562	blood:
2	chr5:96068554..96071240-chr5:96073251..96075210,2	K562	blood:
3	chr5:96064043..96066190-chr5:96068496..96071178,2	MCF-7	breast:

Variant related genes	Relation type
CAST	TF binding region
ENSG00000153113	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs149313	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151828	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs151829	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs151830	0.80[EUR][1000 genomes]
rs26506	0.81[ASN][1000 genomes]
rs26515	0.82[ASN][1000 genomes]
rs27852	0.86[ASN][1000 genomes]
rs9314177	0.80[ASN][1000 genomes]

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	nsv1015173	chr5:95987366-96153392	Genic enhancers Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	41 gene(s)	inside rSNPs	diseases
2	nsv432755	chr5:95987984-96657483	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	66 gene(s)	inside rSNPs	diseases
3	nsv830411	chr5:96045168-96187817	Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv598962	chr5:96057891-96893164	Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs697976	ARTS-1	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:96042800-96076200	Weak transcription	GM12878-XiMat	blood
2	chr5:96051000-96073600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr5:96051200-96076800	Weak transcription	Primary hematopoietic stem cells	blood
4	chr5:96053000-96069600	Weak transcription	HUES48 Cell Line	embryonic stem cell
5	chr5:96054800-96069600	Weak transcription	Stomach Mucosa	stomach
6	chr5:96054800-96069600	Weak transcription	K562	blood
7	chr5:96054800-96077200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr5:96057800-96075200	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr5:96057800-96076000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
10	chr5:96057800-96098600	Weak transcription	Fetal Brain Male	brain
11	chr5:96058000-96077200	Weak transcription	Small Intestine	intestine
12	chr5:96058000-96078200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr5:96058400-96069800	Weak transcription	HUES6 Cell Line	embryonic stem cell
14	chr5:96061200-96069600	Weak transcription	Right Atrium	heart
15	chr5:96061200-96069800	Weak transcription	Right Ventricle	heart
16	chr5:96061200-96069800	Weak transcription	NHLF	lung
17	chr5:96062200-96070800	Weak transcription	Fetal Lung	lung
18	chr5:96062800-96081400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr5:96063000-96126200	Weak transcription	Brain Germinal Matrix	brain
20	chr5:96064200-96069600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr5:96064600-96092600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:96065400-96073200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr5:96065800-96069800	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr5:96065800-96073600	Weak transcription	HepG2	liver
25	chr5:96066400-96069600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
26	chr5:96066400-96069800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr5:96066400-96072600	Weak transcription	Pancreas	Pancrea
28	chr5:96066400-96073200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr5:96066400-96074400	Weak transcription	Colonic Mucosa	Colon
30	chr5:96066600-96069200	Weak transcription	Rectal Smooth Muscle	rectum
31	chr5:96066600-96069600	Weak transcription	Fetal Intestine Small	intestine
32	chr5:96066600-96069600	Weak transcription	Left Ventricle	heart
33	chr5:96066600-96069800	Weak transcription	Esophagus	oesophagus
34	chr5:96066600-96069800	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr5:96066600-96072200	Weak transcription	HUVEC	blood vessel
36	chr5:96066600-96073200	Weak transcription	Brain Hippocampus Middle	brain
37	chr5:96066600-96073200	Weak transcription	HSMMtube	muscle
38	chr5:96066600-96073600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
39	chr5:96066600-96073800	Weak transcription	Fetal Stomach	stomach
40	chr5:96066600-96076000	Weak transcription	Aorta	Aorta
41	chr5:96066600-96076000	Weak transcription	Gastric	stomach
42	chr5:96066600-96076000	Weak transcription	Spleen	Spleen
43	chr5:96066600-96076800	Weak transcription	Fetal Thymus	thymus
44	chr5:96066800-96069600	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr5:96066800-96069600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr5:96066800-96070200	Weak transcription	Lung	lung
47	chr5:96066800-96071800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr5:96066800-96072800	Weak transcription	Brain Anterior Caudate	brain
49	chr5:96066800-96073600	Weak transcription	Brain Angular Gyrus	brain
50	chr5:96066800-96077200	Weak transcription	Brain Cingulate Gyrus	brain

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