Variant report

Variant	rs16898172
Chromosome Location	chr8:124243453-124243454
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:124242969..124246444-chr8:124250871..124254572,7	K562	blood:

Variant related genes	Relation type
ENSG00000189376	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs11985857	0.81[AFR][1000 genomes]
rs11991144	0.83[AMR][1000 genomes]
rs11992098	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs11992167	0.83[AMR][1000 genomes]
rs11996182	1.00[YRI][hapmap]
rs16898144	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs16898261	1.00[YRI][hapmap]
rs5001348	1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs73703770	0.83[AMR][1000 genomes]
rs73703771	0.83[AMR][1000 genomes]
rs7817491	0.83[AMR][1000 genomes]
rs7825266	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	nsv1032827	chr8:123668081-124270400	Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv529364	chr8:123763846-124373809	Enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv1015249	chr8:124103504-124373949	Strong transcription Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv539741	chr8:124103504-124373949	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:124219200-124245800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
2	chr8:124220200-124252800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr8:124227800-124244200	Weak transcription	Fetal Brain Male	brain
4	chr8:124229000-124244400	Strong transcription	Fetal Muscle Leg	muscle
5	chr8:124229000-124252200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr8:124229200-124251400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr8:124229400-124251200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
8	chr8:124229400-124252000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr8:124230200-124247800	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr8:124230200-124251200	Weak transcription	Stomach Mucosa	stomach
11	chr8:124233400-124250200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr8:124233600-124251200	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr8:124234400-124251200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr8:124234600-124248000	Strong transcription	HUES64 Cell Line	embryonic stem cell
15	chr8:124234600-124252400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr8:124235200-124243600	Strong transcription	HSMM	muscle
17	chr8:124235200-124252400	Weak transcription	Psoas Muscle	Psoas
18	chr8:124235800-124245200	Strong transcription	Primary B cells from cord blood	blood
19	chr8:124235800-124248800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
20	chr8:124235800-124249800	Strong transcription	Primary T cells from cord blood	blood
21	chr8:124235800-124250600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr8:124236000-124247600	Strong transcription	Rectal Mucosa Donor 31	rectum
23	chr8:124236000-124250600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr8:124236200-124245200	Strong transcription	Primary B cells from peripheral blood	blood
25	chr8:124236200-124245600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr8:124236400-124245200	Strong transcription	Primary hematopoietic stem cells	blood
27	chr8:124236400-124248000	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr8:124236400-124249000	Strong transcription	Dnd41	blood
29	chr8:124236400-124250200	Strong transcription	Fetal Muscle Trunk	muscle
30	chr8:124236400-124250600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr8:124236400-124250600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr8:124236600-124243600	Strong transcription	Fetal Intestine Small	intestine
33	chr8:124236600-124243800	Strong transcription	Cortex derived primary cultured neurospheres	brain
34	chr8:124236600-124244600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr8:124236600-124245000	Strong transcription	Duodenum Smooth Muscle	Duodenum
36	chr8:124236600-124247600	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr8:124236600-124247800	Strong transcription	Rectal Mucosa Donor 29	rectum
38	chr8:124236600-124250600	Strong transcription	Fetal Stomach	stomach
39	chr8:124236600-124251000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr8:124236600-124251000	Strong transcription	Placenta	Placenta
41	chr8:124236600-124251200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr8:124236600-124251200	Strong transcription	K562	blood
43	chr8:124236800-124244000	Strong transcription	Osteobl	bone
44	chr8:124236800-124248400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr8:124237000-124244000	Strong transcription	HSMMtube	muscle
46	chr8:124237000-124245600	Strong transcription	Fetal Lung	lung
47	chr8:124237200-124247800	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr8:124237400-124243600	Strong transcription	Stomach Smooth Muscle	stomach
49	chr8:124237400-124249400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr8:124237600-124243800	Strong transcription	Colon Smooth Muscle	Colon

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