Variant report

Variant	rs9642868
Chromosome Location	chr8:124660342-124660343
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124654411..124657402-chr8:124657666..124660616,2	K562	blood:
2	chr8:124655670..124657756-chr8:124660016..124662293,2	K562	blood:
3	chr8:124658981..124661322-chr8:124661767..124666757,5	MCF-7	breast:
4	chr8:124640064..124642206-chr8:124659228..124661300,2	MCF-7	breast:
5	chr8:124659242..124661407-chr8:124671915..124673705,2	MCF-7	breast:
6	chr8:124658511..124660585-chr8:124661818..124664986,4	MCF-7	breast:
7	chr8:124656144..124657737-chr8:124658420..124660682,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175946	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs10505438	0.95[ASN][1000 genomes]
rs10505439	0.94[ASN][1000 genomes]
rs10956143	0.80[ASN][1000 genomes]
rs12056317	0.89[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs16898668	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs16898685	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16898686	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16898687	0.90[ASN][1000 genomes]
rs16898689	0.91[ASN][1000 genomes]
rs16898691	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4367519	0.88[ASN][1000 genomes]
rs56737136	0.80[ASN][1000 genomes]
rs58763139	0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61264957	0.80[ASN][1000 genomes]
rs62518569	0.91[ASN][1000 genomes]
rs66970129	0.95[ASN][1000 genomes]
rs72711231	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72711243	0.86[ASN][1000 genomes]
rs72711245	0.86[ASN][1000 genomes]
rs72711246	0.86[ASN][1000 genomes]
rs72711249	0.85[ASN][1000 genomes]
rs72713110	0.85[ASN][1000 genomes]
rs72713116	0.80[ASN][1000 genomes]
rs9643183	0.86[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	nsv831450	chr8:124471741-124661359	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv612140	chr8:124604759-124738618	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv1032155	chr8:124609702-124739559	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv1844966	chr8:124654332-124660447	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Strong transcription Active TSS	Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:30 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124656400-124660800	Enhancers	Fetal Heart	heart
2	chr8:124656600-124660400	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr8:124656800-124660400	Weak transcription	Fetal Intestine Large	intestine
4	chr8:124656800-124660400	Weak transcription	A549	lung
5	chr8:124656800-124660600	Weak transcription	HSMMtube	muscle
6	chr8:124656800-124660800	Weak transcription	Duodenum Mucosa	Duodenum
7	chr8:124656800-124666000	Weak transcription	HSMM	muscle
8	chr8:124656800-124666800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
9	chr8:124657000-124660400	Weak transcription	Fetal Intestine Small	intestine
10	chr8:124657000-124664200	Weak transcription	Placenta	Placenta
11	chr8:124657000-124665600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr8:124657200-124660400	Weak transcription	NH-A	brain
13	chr8:124657400-124660400	Weak transcription	Osteobl	bone
14	chr8:124658400-124660400	Weak transcription	Left Ventricle	heart
15	chr8:124658400-124661000	Weak transcription	Fetal Muscle Leg	muscle
16	chr8:124658600-124660400	Weak transcription	Aorta	Aorta
17	chr8:124658600-124660600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr8:124658600-124660600	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr8:124658800-124661400	Weak transcription	Fetal Muscle Trunk	muscle
20	chr8:124658800-124661600	Weak transcription	Right Ventricle	heart
21	chr8:124659000-124661800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr8:124659200-124661400	Weak transcription	Psoas Muscle	Psoas
23	chr8:124659400-124660400	Weak transcription	Rectal Smooth Muscle	rectum
24	chr8:124659400-124660400	Active TSS	Stomach Smooth Muscle	stomach
25	chr8:124659400-124667000	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr8:124659800-124664200	Weak transcription	Fetal Stomach	stomach
27	chr8:124660000-124660800	Weak transcription	Ovary	ovary
28	chr8:124660000-124660800	Active TSS	Skeletal Muscle Female	skeletal muscle
29	chr8:124660000-124662400	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:124660200-124665200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle

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