Variant report

Variant	rs7004851
Chromosome Location	chr8:124667952-124667953
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	chr8:124661695..124666565-chr8:124667806..124672490,5	MCF-7	breast:
2	chr8:124656327..124658581-chr8:124667209..124669646,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000175946	Chromatin interaction

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs4871406	0.80[CEU][hapmap]
rs7388119	0.83[CHB][hapmap]

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	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:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124661200-124670000	Weak transcription	Duodenum Mucosa	Duodenum
2	chr8:124664000-124668000	Flanking Active TSS	Stomach Smooth Muscle	stomach
3	chr8:124664200-124668200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr8:124664200-124668400	Enhancers	Ovary	ovary
5	chr8:124664200-124669000	Enhancers	Fetal Stomach	stomach
6	chr8:124665000-124669400	Enhancers	Breast Myoepithelial Primary Cells	Breast
7	chr8:124665400-124668000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr8:124665400-124668200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr8:124665400-124668400	Enhancers	Fetal Intestine Large	intestine
10	chr8:124666200-124668000	Flanking Active TSS	Rectal Smooth Muscle	rectum
11	chr8:124666200-124668200	Flanking Active TSS	Skeletal Muscle Male	skeletal muscle
12	chr8:124666200-124669400	Weak transcription	HMEC	breast
13	chr8:124666200-124669600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
14	chr8:124666200-124674000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:124666400-124668000	Enhancers	Right Ventricle	heart
16	chr8:124666400-124669200	Weak transcription	NHEK	skin
17	chr8:124666400-124669600	Weak transcription	NH-A	brain
18	chr8:124666400-124669800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr8:124666400-124671200	Enhancers	Fetal Muscle Leg	muscle
20	chr8:124666600-124668200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
21	chr8:124666600-124668400	Enhancers	Left Ventricle	heart
22	chr8:124666600-124668800	Enhancers	Psoas Muscle	Psoas
23	chr8:124666600-124669800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr8:124666800-124668000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
25	chr8:124666800-124668200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
26	chr8:124666800-124670000	Weak transcription	HSMM	muscle
27	chr8:124666800-124678600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
28	chr8:124667000-124668000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr8:124667000-124668200	Enhancers	Lung	lung
30	chr8:124667000-124668800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr8:124667000-124670000	Weak transcription	NHLF	lung
32	chr8:124667000-124670200	Weak transcription	Brain Anterior Caudate	brain
33	chr8:124667400-124668000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr8:124667400-124668000	Enhancers	Brain Inferior Temporal Lobe	brain
35	chr8:124667400-124668200	Enhancers	Pancreas	Pancrea
36	chr8:124667400-124668400	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr8:124667400-124669400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr8:124667400-124671400	Enhancers	Colon Smooth Muscle	Colon
39	chr8:124667600-124668000	Weak transcription	Esophagus	oesophagus
40	chr8:124667600-124668000	Enhancers	Skeletal Muscle Female	skeletal muscle
41	chr8:124667600-124668400	Enhancers	Fetal Heart	heart
42	chr8:124667600-124669600	Weak transcription	Fetal Intestine Small	intestine
43	chr8:124667600-124669600	Weak transcription	Right Atrium	heart
44	chr8:124667600-124670000	Weak transcription	HSMMtube	muscle
45	chr8:124667600-124670200	Weak transcription	Brain Angular Gyrus	brain
46	chr8:124667600-124670200	Weak transcription	Brain Cingulate Gyrus	brain
47	chr8:124667600-124670200	Weak transcription	Fetal Brain Male	brain
48	chr8:124667600-124670800	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr8:124667800-124668200	Enhancers	Osteobl	bone
50	chr8:124667800-124669600	Weak transcription	Aorta	Aorta

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