Variant report

Variant	rs11991744
Chromosome Location	chr8:124659329-124659330
allele	A/C
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	chr8:124658981..124661322-chr8:124661767..124666757,5	MCF-7	breast:
3	chr8:124640064..124642206-chr8:124659228..124661300,2	MCF-7	breast:
4	chr8:124659242..124661407-chr8:124671915..124673705,2	MCF-7	breast:
5	chr8:124658511..124660585-chr8:124661818..124664986,4	MCF-7	breast:
6	chr8:124651070..124655154-chr8:124655316..124659808,4	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: 23 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10505438	1.00[YRI][hapmap]
rs11780509	0.94[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs11784192	0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs11786734	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs11994199	0.94[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs13252050	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13270650	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs4374971	0.94[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs4496951	0.89[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs4871402	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4871403	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs58763139	0.82[AFR][1000 genomes]
rs6470169	0.83[ASN][1000 genomes]
rs6470170	0.89[CHB][hapmap];0.94[CHD][hapmap];0.83[GIH][hapmap];0.81[JPT][hapmap];0.83[ASN][1000 genomes]
rs7387544	0.94[CHB][hapmap];1.00[CHD][hapmap];0.83[GIH][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs7387855	0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.90[MEX][hapmap];0.88[ASN][1000 genomes]
rs7463896	0.94[CHB][hapmap];0.97[CHD][hapmap];0.83[GIH][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs7464171	0.96[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs7464207	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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

Variant related diseases (count:1)

Disease	PMID	Source
Electrocardiographic traits	25055868	GWAS catalog

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124655000-124660000	Enhancers	Ovary	ovary
2	chr8:124656400-124660800	Enhancers	Fetal Heart	heart
3	chr8:124656600-124659800	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
4	chr8:124656600-124660400	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr8:124656800-124660400	Weak transcription	Fetal Intestine Large	intestine
6	chr8:124656800-124660400	Weak transcription	A549	lung
7	chr8:124656800-124660600	Weak transcription	HSMMtube	muscle
8	chr8:124656800-124660800	Weak transcription	Duodenum Mucosa	Duodenum
9	chr8:124656800-124666000	Weak transcription	HSMM	muscle
10	chr8:124656800-124666800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
11	chr8:124657000-124660400	Weak transcription	Fetal Intestine Small	intestine
12	chr8:124657000-124664200	Weak transcription	Placenta	Placenta
13	chr8:124657000-124665600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
14	chr8:124657200-124660400	Weak transcription	NH-A	brain
15	chr8:124657400-124660400	Weak transcription	Osteobl	bone
16	chr8:124658000-124659400	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr8:124658400-124659400	Enhancers	Rectal Smooth Muscle	rectum
18	chr8:124658400-124660400	Weak transcription	Left Ventricle	heart
19	chr8:124658400-124661000	Weak transcription	Fetal Muscle Leg	muscle
20	chr8:124658600-124660400	Weak transcription	Aorta	Aorta
21	chr8:124658600-124660600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr8:124658600-124660600	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr8:124658800-124659800	Enhancers	Fetal Stomach	stomach
24	chr8:124658800-124660000	Enhancers	Colon Smooth Muscle	Colon
25	chr8:124658800-124661400	Weak transcription	Fetal Muscle Trunk	muscle
26	chr8:124658800-124661600	Weak transcription	Right Ventricle	heart
27	chr8:124659000-124659400	Flanking Active TSS	Stomach Smooth Muscle	stomach
28	chr8:124659000-124661800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr8:124659200-124659800	Enhancers	Skeletal Muscle Female	skeletal muscle
30	chr8:124659200-124661400	Weak transcription	Psoas Muscle	Psoas

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