Variant report

Variant	rs11994199
Chromosome Location	chr8:124663250-124663251
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:124658511..124660585-chr8:124661818..124664986,4	MCF-7	breast:
2	chr8:124662099..124664193-chr8:124664462..124666029,2	MCF-7	breast:
3	chr8:124653035..124654923-chr8:124661285..124663313,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175946	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11780509	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11784192	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]
rs11786734	0.89[ASN][1000 genomes]
rs11991744	0.94[CHB][hapmap];0.87[JPT][hapmap];0.89[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[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4496951	0.86[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4871402	0.94[CHB][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	0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6470170	1.00[CEU][hapmap];0.94[CHB][hapmap];0.94[JPT][hapmap];0.95[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7387544	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7387855	1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs7463896	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][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:3 , 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

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	chr8:124661000-124663600	Active TSS	Left Ventricle	heart
10	chr8:124661000-124666000	Active TSS	Right Atrium	heart
11	chr8:124661200-124663400	Weak transcription	Rectal Smooth Muscle	rectum
12	chr8:124661200-124664200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr8:124661200-124665600	Weak transcription	Osteobl	bone
14	chr8:124661200-124665800	Weak transcription	HSMMtube	muscle
15	chr8:124661200-124665800	Weak transcription	NH-A	brain
16	chr8:124661200-124666000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr8:124661200-124666400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr8:124661200-124670000	Weak transcription	Duodenum Mucosa	Duodenum
19	chr8:124661400-124663800	Active TSS	Fetal Muscle Leg	muscle
20	chr8:124661400-124666200	Active TSS	Fetal Muscle Trunk	muscle
21	chr8:124661600-124664400	Active TSS	Right Ventricle	heart
22	chr8:124661800-124664200	Weak transcription	Ovary	ovary
23	chr8:124661800-124664600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr8:124661800-124665000	Weak transcription	Fetal Intestine Small	intestine
25	chr8:124662200-124663400	Active TSS	Stomach Smooth Muscle	stomach
26	chr8:124662200-124663800	Active TSS	Psoas Muscle	Psoas
27	chr8:124662200-124664000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr8:124662400-124663800	Enhancers	Colon Smooth Muscle	Colon
29	chr8:124662800-124664200	Weak transcription	Aorta	Aorta
30	chr8:124663000-124665400	Weak transcription	Fetal Intestine Large	intestine
31	chr8:124663200-124663400	Flanking Active TSS	Fetal Heart	heart
32	chr8:124663200-124664800	Transcr. at gene 5' and 3'	Skeletal Muscle Female	skeletal muscle

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