Variant report

Variant	rs7813635
Chromosome Location	chr8:124720203-124720204
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124717663..124720298-chr8:124732166..124733821,2	MCF-7	breast:
2	chr8:124717634..124720266-chr8:124720485..124724921,3	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10505441	1.00[EUR][1000 genomes]
rs11992243	0.89[YRI][hapmap];1.00[AMR][1000 genomes]
rs11996113	1.00[EUR][1000 genomes]
rs11997211	1.00[EUR][1000 genomes]
rs16898743	1.00[EUR][1000 genomes]
rs16898756	1.00[EUR][1000 genomes]
rs16898765	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16898849	1.00[EUR][1000 genomes]
rs1975114	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2018224	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34792899	1.00[EUR][1000 genomes]
rs4513954	1.00[EUR][1000 genomes]
rs57418226	1.00[EUR][1000 genomes]
rs58056715	1.00[EUR][1000 genomes]
rs58826471	1.00[EUR][1000 genomes]
rs58870794	1.00[EUR][1000 genomes]
rs6981655	1.00[EUR][1000 genomes]
rs6986577	1.00[EUR][1000 genomes]
rs6986749	1.00[EUR][1000 genomes]
rs6986773	1.00[EUR][1000 genomes]
rs7004529	1.00[EUR][1000 genomes]
rs7004798	1.00[EUR][1000 genomes]
rs7008452	1.00[EUR][1000 genomes]
rs73324246	1.00[EUR][1000 genomes]
rs7819852	1.00[EUR][1000 genomes]
rs7820119	1.00[EUR][1000 genomes]
rs7833145	1.00[EUR][1000 genomes]
rs7833197	1.00[EUR][1000 genomes]
rs7840250	1.00[EUR][1000 genomes]
rs9694473	1.00[EUR][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	nsv831451	chr8:124710946-124885148	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124704600-124725400	Weak transcription	Rectal Mucosa Donor 31	rectum
2	chr8:124707000-124727000	Strong transcription	Fetal Intestine Large	intestine
3	chr8:124710200-124720600	Weak transcription	HSMMtube	muscle
4	chr8:124711000-124720600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr8:124718200-124724000	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr8:124718400-124721000	Weak transcription	Fetal Heart	heart
7	chr8:124718600-124722000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr8:124718600-124725800	Strong transcription	Duodenum Mucosa	Duodenum
9	chr8:124718800-124720600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr8:124718800-124720800	Genic enhancers	Fetal Intestine Small	intestine
11	chr8:124718800-124720800	Weak transcription	Left Ventricle	heart
12	chr8:124718800-124731800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr8:124719000-124724600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr8:124719400-124720400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr8:124719400-124720600	Weak transcription	Esophagus	oesophagus
16	chr8:124720000-124720400	Enhancers	HUVEC	blood vessel
17	chr8:124720000-124721600	Enhancers	Breast Myoepithelial Primary Cells	Breast
18	chr8:124720000-124721800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr8:124720200-124720400	Enhancers	HMEC	breast
20	chr8:124720200-124720600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:124720200-124720600	Enhancers	Fetal Lung	lung
22	chr8:124720200-124720600	Enhancers	NH-A	brain
23	chr8:124720200-124720800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr8:124720200-124720800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:124720200-124721000	Enhancers	Aorta	Aorta
26	chr8:124720200-124721000	Flanking Active TSS	HepG2	liver
27	chr8:124720200-124721200	Enhancers	Primary hematopoietic stem cells short term culture	blood
28	chr8:124720200-124721200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr8:124720200-124721200	Enhancers	Fetal Muscle Leg	muscle
30	chr8:124720200-124721200	Enhancers	Fetal Stomach	stomach
31	chr8:124720200-124721200	Flanking Active TSS	Osteobl	bone
32	chr8:124720200-124721400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr8:124720200-124721400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr8:124720200-124721600	Enhancers	NHEK	skin
35	chr8:124720200-124722000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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