Variant report

Variant	rs61203210
Chromosome Location	chr8:87551391-87551392
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	SPI1	chr8:87551391-87551669	GM12891	blood:	n/a	n/a
2	SPI1	chr8:87551391-87551614	GM12891	blood:	n/a	n/a
3	YY1	chr8:87551332-87551569	GM12892	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:87550268..87552381-chr8:87554713..87556319,2	MCF-7	breast:

Variant related genes	Relation type
CPNE3	TF binding region

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs10481198	0.90[AFR][1000 genomes]
rs41333046	0.87[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73265783	0.99[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][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	esv3349873	chr8:87185763-87603726	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1023510	chr8:87429001-87874948	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv933966	chr8:87454655-87591558	ZNF genes & repeats Flanking Active TSS Active TSS Strong transcription Weak transcription Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:87527400-87568400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr8:87527600-87562000	Weak transcription	Pancreas	Pancrea
3	chr8:87527600-87568200	Weak transcription	Gastric	stomach
4	chr8:87527600-87584000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
5	chr8:87527800-87560000	Weak transcription	HSMMtube	muscle
6	chr8:87528000-87551400	Weak transcription	Right Ventricle	heart
7	chr8:87528000-87563800	Weak transcription	Hela-S3	cervix
8	chr8:87528000-87573600	Weak transcription	Stomach Mucosa	stomach
9	chr8:87528200-87572000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr8:87528400-87560400	Weak transcription	Thymus	Thymus
11	chr8:87528600-87557200	Weak transcription	Small Intestine	intestine
12	chr8:87528600-87566000	Weak transcription	Spleen	Spleen
13	chr8:87536000-87559400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr8:87536600-87556600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr8:87539400-87551800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr8:87539400-87552000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr8:87539400-87554000	Strong transcription	Fetal Intestine Large	intestine
18	chr8:87539600-87560200	Weak transcription	Lung	lung
19	chr8:87540400-87554800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr8:87541200-87554800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr8:87541400-87554800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:87541600-87553000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr8:87541600-87563800	Strong transcription	Primary T cells fromperipheralblood	blood
24	chr8:87541600-87570600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr8:87542000-87558800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:87542400-87553000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
27	chr8:87542600-87554400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr8:87543000-87553600	Strong transcription	Skeletal Muscle Female	skeletal muscle
29	chr8:87543200-87555000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr8:87543200-87571200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr8:87543200-87572600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr8:87543400-87551400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:87543400-87551400	Strong transcription	HMEC	breast
34	chr8:87543400-87554800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr8:87543400-87568800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr8:87543600-87554600	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr8:87543800-87560000	Weak transcription	Esophagus	oesophagus
38	chr8:87544000-87557000	Weak transcription	Colonic Mucosa	Colon
39	chr8:87544200-87553400	Strong transcription	Stomach Smooth Muscle	stomach
40	chr8:87544200-87557000	Weak transcription	NHLF	lung
41	chr8:87544800-87555400	Weak transcription	GM12878-XiMat	blood
42	chr8:87545000-87554000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr8:87545000-87571400	Weak transcription	H9 Cell Line	embryonic stem cell
44	chr8:87545000-87576800	Strong transcription	Primary neutrophils fromperipheralblood	blood
45	chr8:87545200-87556800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr8:87546400-87569400	Strong transcription	NHDF-Ad	bronchial
47	chr8:87546600-87557200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr8:87546600-87557200	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr8:87546600-87570200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
50	chr8:87546600-87570800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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