Variant report

Variant	rs62521939
Chromosome Location	chr8:98951849-98951850
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:98942233..98946263-chr8:98950230..98954228,4	MCF-7	breast:
2	chr8:98949816..98952906-chr8:98954866..98958097,3	K562	blood:

Variant related genes	Relation type
ENSG00000132561	Chromatin interaction

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

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

rs_ID	r²[population]
rs55972155	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs62521959	0.87[EUR][1000 genomes]
rs9693435	0.87[EUR][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:56 , 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	chr8:98944000-98954000	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr8:98944600-98957800	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr8:98944800-98956200	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr8:98945000-98953800	Weak transcription	Psoas Muscle	Psoas
9	chr8:98945000-98955400	Weak transcription	Left Ventricle	heart
10	chr8:98945200-98953800	Weak transcription	Stomach Smooth Muscle	stomach
11	chr8:98945600-98955800	Weak transcription	Gastric	stomach
12	chr8:98945600-98970200	Weak transcription	Spleen	Spleen
13	chr8:98946200-98956000	Weak transcription	NH-A	brain
14	chr8:98946600-98952200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr8:98946600-98955800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr8:98947200-98956000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
17	chr8:98948400-98953800	Weak transcription	Brain Angular Gyrus	brain
18	chr8:98949600-98955000	Weak transcription	Colon Smooth Muscle	Colon
19	chr8:98949600-98955800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr8:98949800-98955800	Weak transcription	Osteobl	bone
21	chr8:98950400-98953800	Weak transcription	Fetal Muscle Trunk	muscle
22	chr8:98950400-98953800	Weak transcription	Fetal Stomach	stomach
23	chr8:98950400-98955000	Weak transcription	Adipose Nuclei	Adipose
24	chr8:98950400-98955400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr8:98950400-98955800	Weak transcription	Rectal Smooth Muscle	rectum
26	chr8:98950400-98956200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr8:98950400-98956400	Weak transcription	Right Ventricle	heart
28	chr8:98950400-98964600	Weak transcription	Pancreas	Pancrea
29	chr8:98950600-98954600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
30	chr8:98950600-98955800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr8:98950600-98955800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
32	chr8:98950600-98956200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
33	chr8:98950600-98956200	Weak transcription	Fetal Heart	heart
34	chr8:98950800-98952000	Weak transcription	Fetal Kidney	kidney
35	chr8:98950800-98952000	Strong transcription	Fetal Muscle Leg	muscle
36	chr8:98950800-98953800	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr8:98950800-98955600	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr8:98950800-98955800	Weak transcription	H1 Cell Line	embryonic stem cell
39	chr8:98950800-98955800	Weak transcription	Right Atrium	heart
40	chr8:98950800-98956000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr8:98950800-98956000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr8:98950800-98956000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr8:98950800-98956000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr8:98950800-98956200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
45	chr8:98950800-98956200	Weak transcription	Brain Substantia Nigra	brain
46	chr8:98950800-98956400	Weak transcription	Brain Anterior Caudate	brain
47	chr8:98951000-98954200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr8:98951000-98954800	Weak transcription	Fetal Lung	lung
49	chr8:98951200-98952400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
50	chr8:98951400-98952000	Strong transcription	Placenta Amnion	Placenta Amnion

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