Variant report

Variant	rs72711231
Chromosome Location	chr8:124658203-124658204
allele	C/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	chr8:124644904..124649137-chr8:124652807..124658443,6	MCF-7	breast:
3	chr8:124651607..124653869-chr8:124656583..124659283,2	MCF-7	breast:
4	chr8:124656327..124658581-chr8:124667209..124669646,2	MCF-7	breast:
5	chr8:124651070..124655154-chr8:124655316..124659808,4	MCF-7	breast:
6	chr8:124645881..124648835-chr8:124656930..124658613,2	K562	blood:

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]
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]
rs9642868	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124655000-124660000	Enhancers	Ovary	ovary
2	chr8:124655600-124658800	Enhancers	Right Ventricle	heart
3	chr8:124655800-124659000	Enhancers	Stomach Smooth Muscle	stomach
4	chr8:124656400-124658400	Enhancers	Fetal Muscle Leg	muscle
5	chr8:124656400-124660800	Enhancers	Fetal Heart	heart
6	chr8:124656600-124659800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
7	chr8:124656600-124660400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr8:124656800-124658400	Weak transcription	Rectal Smooth Muscle	rectum
9	chr8:124656800-124660400	Weak transcription	Fetal Intestine Large	intestine
10	chr8:124656800-124660400	Weak transcription	A549	lung
11	chr8:124656800-124660600	Weak transcription	HSMMtube	muscle
12	chr8:124656800-124660800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr8:124656800-124666000	Weak transcription	HSMM	muscle
14	chr8:124656800-124666800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr8:124657000-124658800	Weak transcription	Colon Smooth Muscle	Colon
16	chr8:124657000-124658800	Weak transcription	Fetal Stomach	stomach
17	chr8:124657000-124660400	Weak transcription	Fetal Intestine Small	intestine
18	chr8:124657000-124664200	Weak transcription	Placenta	Placenta
19	chr8:124657000-124665600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:124657200-124660400	Weak transcription	NH-A	brain
21	chr8:124657400-124660400	Weak transcription	Osteobl	bone
22	chr8:124657800-124658400	Genic enhancers	Left Ventricle	heart
23	chr8:124657800-124658400	Enhancers	Right Atrium	heart
24	chr8:124657800-124658600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:124657800-124658600	Strong transcription	Aorta	Aorta
26	chr8:124657800-124659000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr8:124657800-124659200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr8:124658000-124658400	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr8:124658000-124658800	Genic enhancers	Fetal Muscle Trunk	muscle
30	chr8:124658000-124659200	Enhancers	Psoas Muscle	Psoas
31	chr8:124658000-124659400	Enhancers	Duodenum Smooth Muscle	Duodenum
32	chr8:124658200-124658400	Enhancers	Rectal Mucosa Donor 29	rectum
33	chr8:124658200-124658600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr8:124658200-124658600	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle

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