Variant report

Variant	rs11784192
Chromosome Location	chr8:124664167-124664168
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124658511..124660585-chr8:124661818..124664986,4	MCF-7	breast:
2	chr8:124662099..124664193-chr8:124664462..124666029,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175946	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11780509	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs11786734	0.89[ASN][1000 genomes]
rs11991744	0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs11994199	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs13252050	1.00[CHB][hapmap];0.85[JPT][hapmap];0.89[ASN][1000 genomes]
rs13270650	0.94[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs4374971	1.00[CHB][hapmap];0.97[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs4496951	0.94[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs4871402	0.94[CHB][hapmap];1.00[CHD][hapmap];0.90[GIH][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs4871403	0.94[CHB][hapmap];0.87[JPT][hapmap];0.88[ASN][1000 genomes]
rs6470169	0.94[ASN][1000 genomes]
rs6470170	0.94[CHB][hapmap];0.94[CHD][hapmap];0.93[GIH][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs7387544	0.86[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7387855	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[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7463896	0.86[ASW][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];0.92[GIH][hapmap];1.00[JPT][hapmap];0.95[LWK][hapmap];0.98[MKK][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7464171	0.89[ASN][1000 genomes]
rs7464207	0.94[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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
3	esv3420486	chr8:124661471-124665669	Flanking Active TSS Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
4	esv1841310	chr8:124664130-124666429	Flanking Active TSS Enhancers Active TSS Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	esv1841904	chr8:124664130-124676037	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:32 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124656800-124666000	Weak transcription	HSMM	muscle
2	chr8:124656800-124666800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr8:124657000-124664200	Weak transcription	Placenta	Placenta
4	chr8:124657000-124665600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr8:124659400-124667000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:124659800-124664200	Weak transcription	Fetal Stomach	stomach
7	chr8:124660200-124665200	Transcr. at gene 5' and 3'	Skeletal Muscle Male	skeletal muscle
8	chr8:124660800-124665400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr8:124661000-124666000	Active TSS	Right Atrium	heart
10	chr8:124661200-124664200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr8:124661200-124665600	Weak transcription	Osteobl	bone
12	chr8:124661200-124665800	Weak transcription	HSMMtube	muscle
13	chr8:124661200-124665800	Weak transcription	NH-A	brain
14	chr8:124661200-124666000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr8:124661200-124666400	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr8:124661200-124670000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr8:124661400-124666200	Active TSS	Fetal Muscle Trunk	muscle
18	chr8:124661600-124664400	Active TSS	Right Ventricle	heart
19	chr8:124661800-124664200	Weak transcription	Ovary	ovary
20	chr8:124661800-124664600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr8:124661800-124665000	Weak transcription	Fetal Intestine Small	intestine
22	chr8:124662800-124664200	Weak transcription	Aorta	Aorta
23	chr8:124663000-124665400	Weak transcription	Fetal Intestine Large	intestine
24	chr8:124663200-124664800	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle
25	chr8:124663400-124664200	Enhancers	Rectal Smooth Muscle	rectum
26	chr8:124663600-124664400	Transcr. at gene 5' and 3'	Left Ventricle	heart
27	chr8:124663800-124664200	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr8:124663800-124664400	Flanking Active TSS	Psoas Muscle	Psoas
29	chr8:124663800-124665000	Weak transcription	Colon Smooth Muscle	Colon
30	chr8:124663800-124665600	Flanking Active TSS	Fetal Heart	heart
31	chr8:124664000-124666200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr8:124664000-124668000	Flanking Active TSS	Stomach Smooth Muscle	stomach

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