Variant report

Variant	rs2513814
Chromosome Location	chr8:99061675-99061676
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr8:99061588-99061694	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr8:98879599..98882619-chr8:99058852..99062253,4	MCF-7	breast:
2	chr8:99053215..99055370-chr8:99061297..99063461,2	K562	blood:
3	chr8:99056634..99059248-chr8:99059651..99063296,8	MCF-7	breast:
4	chr8:99056304..99059597-chr8:99060333..99064411,5	K562	blood:

Variant related genes	Relation type
RPL30	TF binding region
ENSG00000132561	Chromatin interaction
ENSG00000156482	Chromatin interaction
ENSG00000245970	Chromatin interaction
ENSG00000207067	Chromatin interaction

Extended variants
information (count: 3 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs2444873	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032904	chr8:98756076-99476925	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases
2	nsv539687	chr8:98756076-99476925	Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	72 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:44 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:99059000-99063400	Weak transcription	Brain Angular Gyrus	brain
2	chr8:99059200-99061800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr8:99059200-99061800	Weak transcription	Brain Substantia Nigra	brain
4	chr8:99059200-99061800	Weak transcription	Duodenum Mucosa	Duodenum
5	chr8:99059200-99061800	Weak transcription	Fetal Stomach	stomach
6	chr8:99059200-99061800	Weak transcription	NHDF-Ad	bronchial
7	chr8:99059200-99061800	Weak transcription	Osteobl	bone
8	chr8:99059200-99062000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
9	chr8:99059200-99062000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr8:99059200-99062000	Weak transcription	Right Ventricle	heart
11	chr8:99059200-99062000	Weak transcription	HSMM	muscle
12	chr8:99059200-99062200	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr8:99059200-99062400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
14	chr8:99059200-99062600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr8:99059200-99062800	Weak transcription	HUES64 Cell Line	embryonic stem cell
16	chr8:99059200-99063000	Weak transcription	GM12878-XiMat	blood
17	chr8:99059200-99063200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
18	chr8:99059200-99063200	Weak transcription	Fetal Kidney	kidney
19	chr8:99059200-99063400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr8:99059200-99063400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
21	chr8:99059200-99064000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
22	chr8:99059200-99064200	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr8:99059200-99065000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
24	chr8:99059200-99066200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr8:99059200-99070800	Weak transcription	A549	lung
26	chr8:99059200-99071000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr8:99059400-99061800	Weak transcription	Left Ventricle	heart
28	chr8:99059400-99061800	Weak transcription	Stomach Smooth Muscle	stomach
29	chr8:99059400-99062000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr8:99059400-99062000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr8:99059400-99062200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr8:99059400-99062800	Weak transcription	Pancreas	Pancrea
33	chr8:99059400-99063200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr8:99059400-99063200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr8:99059400-99063600	Weak transcription	Fetal Intestine Large	intestine
36	chr8:99059400-99063600	Weak transcription	Fetal Muscle Trunk	muscle
37	chr8:99059400-99064600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr8:99059400-99076200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
39	chr8:99059600-99064400	Weak transcription	Primary T cells fromperipheralblood	blood
40	chr8:99060000-99064200	Weak transcription	Fetal Intestine Small	intestine
41	chr8:99060800-99064600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
42	chr8:99060800-99065000	Weak transcription	Liver	Liver
43	chr8:99061200-99063000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr8:99061400-99062800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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