Variant report

Variant	rs2512026
Chromosome Location	chr8:98955243-98955244
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:98949816..98952906-chr8:98954866..98958097,3	K562	blood:
2	chr8:98954024..98956725-chr8:98958749..98960500,2	K562	blood:
3	chr8:98954807..98957086-chr8:98962023..98964271,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs2444879	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2512034	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2512035	1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2513845	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2513846	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2513847	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 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
3	nsv1028055	chr8:98780445-98977746	Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
4	nsv891214	chr8:98849303-98990399	Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
5	nsv891215	chr8:98910287-98980663	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:98938200-98956200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr8:98938200-98969200	Weak transcription	Colonic Mucosa	Colon
3	chr8:98941000-98968000	Weak transcription	Esophagus	oesophagus
4	chr8:98942400-98956200	Weak transcription	NHLF	lung
5	chr8:98944600-98957800	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr8:98944800-98956200	Weak transcription	Duodenum Smooth Muscle	Duodenum
7	chr8:98945000-98955400	Weak transcription	Left Ventricle	heart
8	chr8:98945600-98955800	Weak transcription	Gastric	stomach
9	chr8:98945600-98970200	Weak transcription	Spleen	Spleen
10	chr8:98946200-98956000	Weak transcription	NH-A	brain
11	chr8:98946600-98955800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr8:98947200-98956000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr8:98949600-98955800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
14	chr8:98949800-98955800	Weak transcription	Osteobl	bone
15	chr8:98950400-98955400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
16	chr8:98950400-98955800	Weak transcription	Rectal Smooth Muscle	rectum
17	chr8:98950400-98956200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
18	chr8:98950400-98956400	Weak transcription	Right Ventricle	heart
19	chr8:98950400-98964600	Weak transcription	Pancreas	Pancrea
20	chr8:98950600-98955800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr8:98950600-98955800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr8:98950600-98956200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
23	chr8:98950600-98956200	Weak transcription	Fetal Heart	heart
24	chr8:98950800-98955600	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr8:98950800-98955800	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr8:98950800-98955800	Weak transcription	Right Atrium	heart
27	chr8:98950800-98956000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr8:98950800-98956000	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr8:98950800-98956000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr8:98950800-98956000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr8:98950800-98956200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr8:98950800-98956200	Weak transcription	Brain Substantia Nigra	brain
33	chr8:98950800-98956400	Weak transcription	Brain Anterior Caudate	brain
34	chr8:98951400-98956400	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr8:98951800-98956200	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr8:98952000-98956400	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:98952000-98956400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr8:98952200-98962200	Weak transcription	Brain Cingulate Gyrus	brain
39	chr8:98953800-98955600	Enhancers	Fetal Kidney	kidney
40	chr8:98953800-98955800	Strong transcription	Fetal Muscle Trunk	muscle
41	chr8:98953800-98956200	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr8:98954000-98955400	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr8:98954000-98955600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr8:98954000-98955600	Genic enhancers	Ovary	ovary
45	chr8:98954000-98955800	Weak transcription	Stomach Smooth Muscle	stomach
46	chr8:98954000-98956600	Weak transcription	Brain Angular Gyrus	brain
47	chr8:98954000-98956600	Strong transcription	Duodenum Mucosa	Duodenum
48	chr8:98954000-98957200	Genic enhancers	Fetal Muscle Leg	muscle
49	chr8:98954200-98955600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr8:98954200-98956200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin

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