Variant report

Variant	rs7829543
Chromosome Location	chr8:48428488-48428489
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:48425055..48429090-chr8:48432986..48438786,8	MCF-7	breast:
2	chr8:48417772..48429044-chr8:48646094..48652486,42	MCF-7	breast:
3	chr8:48425858..48428805-chr8:48433583..48436429,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000221869	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10107926	0.91[EUR][1000 genomes]
rs10481296	0.91[EUR][1000 genomes]
rs12216833	0.96[EUR][1000 genomes]
rs1552667	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16927307	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55841214	0.96[EUR][1000 genomes]
rs55918561	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56107210	0.98[EUR][1000 genomes]
rs56391539	0.96[EUR][1000 genomes]
rs58828084	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs6472453	0.83[EUR][1000 genomes]
rs6989958	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs6992139	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7011833	0.87[EUR][1000 genomes]
rs72644585	0.88[EUR][1000 genomes]
rs72644587	0.83[EUR][1000 genomes]
rs72644597	0.96[EUR][1000 genomes]
rs72644602	0.94[EUR][1000 genomes]
rs72646317	0.88[EUR][1000 genomes]
rs72646321	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72646324	0.85[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs72646330	0.89[EUR][1000 genomes]
rs72646348	1.00[EUR][1000 genomes]
rs72646350	1.00[EUR][1000 genomes]
rs7822371	0.91[EUR][1000 genomes]
rs7834901	0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7839055	0.91[EUR][1000 genomes]
rs9643810	0.84[EUR][1000 genomes]
rs9650144	0.96[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3693377	chr8:47824261-48582964	Genic enhancers Weak transcription ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	31 gene(s)	inside rSNPs	diseases
2	nsv491863	chr8:48053825-48586176	Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
3	nsv1025674	chr8:48306843-48548862	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
4	nsv1023409	chr8:48320442-48454089	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
5	nsv539595	chr8:48320442-48454089	Weak transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
6	nsv890848	chr8:48405007-48535622	Flanking Active TSS Weak transcription Enhancers Genic enhancers ZNF genes & repeats Strong transcription Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv470211	chr8:48405007-48545961	Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:48418400-48436000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr8:48421800-48435200	Weak transcription	Primary B cells from cord blood	blood
3	chr8:48422000-48434800	Weak transcription	Fetal Thymus	thymus
4	chr8:48423800-48436000	Weak transcription	Gastric	stomach
5	chr8:48423800-48436800	Weak transcription	Thymus	Thymus
6	chr8:48424400-48438800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
7	chr8:48424800-48432000	Weak transcription	Ovary	ovary
8	chr8:48424800-48435000	Weak transcription	Spleen	Spleen
9	chr8:48425000-48428800	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr8:48425000-48429000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr8:48425000-48429600	Enhancers	Monocytes-CD14+_RO01746	blood
12	chr8:48425600-48429200	Enhancers	Rectal Mucosa Donor 29	rectum
13	chr8:48425800-48429600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
14	chr8:48426200-48428600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
15	chr8:48426200-48428600	Enhancers	Sigmoid Colon	Sigmoid Colon
16	chr8:48426200-48428600	Enhancers	NHLF	lung
17	chr8:48426400-48428800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
18	chr8:48426400-48435000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr8:48426600-48434800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr8:48426800-48428600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr8:48426800-48428600	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr8:48426800-48432800	Weak transcription	Brain Substantia Nigra	brain
23	chr8:48426800-48434800	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr8:48426800-48436400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:48427000-48432800	Weak transcription	Primary T cells from cord blood	blood
26	chr8:48427000-48434800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
27	chr8:48427200-48431800	Weak transcription	Lung	lung
28	chr8:48427200-48435000	Weak transcription	Fetal Intestine Small	intestine
29	chr8:48427200-48436000	Weak transcription	Aorta	Aorta
30	chr8:48427600-48428600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr8:48427600-48433000	Weak transcription	Liver	Liver
32	chr8:48427800-48433200	Weak transcription	Right Atrium	heart
33	chr8:48427800-48433400	Weak transcription	Pancreas	Pancrea
34	chr8:48427800-48433400	Weak transcription	Psoas Muscle	Psoas
35	chr8:48427800-48434800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr8:48427800-48434800	Weak transcription	HSMM	muscle
37	chr8:48427800-48435000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr8:48427800-48435800	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr8:48427800-48437000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr8:48428000-48433000	Weak transcription	Stomach Smooth Muscle	stomach
41	chr8:48428000-48433400	Weak transcription	Duodenum Smooth Muscle	Duodenum
42	chr8:48428000-48434600	Weak transcription	Rectal Mucosa Donor 31	rectum
43	chr8:48428000-48435000	Weak transcription	Fetal Kidney	kidney
44	chr8:48428000-48435800	Weak transcription	HSMMtube	muscle
45	chr8:48428200-48429000	Weak transcription	A549	lung
46	chr8:48428200-48431800	Weak transcription	Esophagus	oesophagus
47	chr8:48428200-48432000	Weak transcription	Colon Smooth Muscle	Colon
48	chr8:48428200-48432600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr8:48428200-48432600	Weak transcription	Adipose Nuclei	Adipose
50	chr8:48428200-48432600	Weak transcription	Brain Anterior Caudate	brain

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