Variant report

Variant	rs6997897
Chromosome Location	chr8:121052887-121052888
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:121048344..121050825-chr8:121050887..121053593,2	MCF-7	breast:

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs16893456	0.81[AFR][1000 genomes]
rs56855054	1.00[AMR][1000 genomes]
rs6998857	1.00[AMR][1000 genomes]
rs73704207	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv891418	chr8:120600965-121301474	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv1027974	chr8:120885478-121079658	Weak transcription Flanking Active TSS Enhancers Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
3	nsv539739	chr8:120885478-121079658	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
4	esv3348294	chr8:121000288-121250984	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:121017000-121067000	Weak transcription	Brain Anterior Caudate	brain
2	chr8:121022400-121065400	Weak transcription	Left Ventricle	heart
3	chr8:121022800-121053000	Weak transcription	Rectal Mucosa Donor 29	rectum
4	chr8:121032000-121058000	Weak transcription	Pancreas	Pancrea
5	chr8:121036000-121063800	Weak transcription	Primary hematopoietic stem cells	blood
6	chr8:121038400-121061800	Weak transcription	Adipose Nuclei	Adipose
7	chr8:121042000-121063400	Weak transcription	Spleen	Spleen
8	chr8:121045000-121056600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr8:121045200-121053400	Weak transcription	Liver	Liver
10	chr8:121046200-121053000	Weak transcription	Duodenum Mucosa	Duodenum
11	chr8:121046200-121053200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
12	chr8:121046200-121065200	Weak transcription	Psoas Muscle	Psoas
13	chr8:121046400-121056600	Weak transcription	Gastric	stomach
14	chr8:121048400-121057800	Weak transcription	Fetal Intestine Small	intestine
15	chr8:121048600-121061800	Weak transcription	Fetal Intestine Large	intestine
16	chr8:121048600-121061800	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr8:121048800-121053000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr8:121048800-121053000	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr8:121048800-121053000	Weak transcription	Stomach Mucosa	stomach
20	chr8:121048800-121053400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr8:121048800-121053600	Weak transcription	Fetal Muscle Leg	muscle
22	chr8:121048800-121063600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr8:121048800-121063600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr8:121049000-121053000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr8:121049000-121053000	Weak transcription	Brain Angular Gyrus	brain
26	chr8:121049000-121053000	Weak transcription	Brain Hippocampus Middle	brain
27	chr8:121049000-121054000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr8:121049200-121062200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr8:121049200-121072800	Weak transcription	Fetal Lung	lung
30	chr8:121049200-121072800	Weak transcription	Stomach Smooth Muscle	stomach
31	chr8:121049400-121053400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr8:121049800-121059000	Weak transcription	Fetal Stomach	stomach
33	chr8:121050000-121053000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr8:121050000-121053600	Weak transcription	Ovary	ovary
35	chr8:121050200-121060200	Weak transcription	Fetal Kidney	kidney
36	chr8:121051200-121054800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr8:121051600-121056600	Weak transcription	HUES48 Cell Line	embryonic stem cell
38	chr8:121051600-121056600	Weak transcription	Osteobl	bone
39	chr8:121052400-121053800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr8:121052600-121053000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
41	chr8:121052800-121053000	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr8:121052800-121053600	Enhancers	Brain Substantia Nigra	brain
43	chr8:121052800-121053800	Enhancers	Small Intestine	intestine
44	chr8:121052800-121054200	Enhancers	Colon Smooth Muscle	Colon
45	chr8:121052800-121054600	Enhancers	Brain Inferior Temporal Lobe	brain
46	chr8:121052800-121060000	Weak transcription	Fetal Muscle Trunk	muscle

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