Variant report

Variant	rs73251887
Chromosome Location	chr8:67548667-67548668
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	chr8:67546609..67549013-chr8:67579854..67581990,2	K562	blood:

Variant related genes	Relation type
ENSG00000213865	Chromatin interaction

Extended variants
information (count: 88 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs10504393	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11986831	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11987253	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987254	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987271	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11987311	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11988213	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11990322	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11990331	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11992252	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11992295	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11993306	1.00[ASN][1000 genomes]
rs11993354	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11994827	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11995031	1.00[EUR][1000 genomes]
rs11995253	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11995291	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11997554	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11998194	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12114868	0.96[EUR][1000 genomes]
rs16932983	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932985	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16932996	0.81[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16933013	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16933026	0.96[EUR][1000 genomes]
rs16933032	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2357998	1.00[EUR][1000 genomes]
rs2358000	0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs28432871	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28572179	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28589429	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34301114	1.00[EUR][1000 genomes]
rs35078037	1.00[EUR][1000 genomes]
rs35353562	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs3808602	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs3824258	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4345540	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56682762	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56742359	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56810217	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56911449	0.96[EUR][1000 genomes]
rs57125106	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57351080	1.00[EUR][1000 genomes]
rs57858031	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58454063	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58806068	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59089124	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59410806	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59643912	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs60165103	0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60655524	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs60784079	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61469007	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982202	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6982407	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6986439	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6986940	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6988670	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6991992	1.00[EUR][1000 genomes]
rs6998505	0.96[EUR][1000 genomes]
rs6998718	1.00[EUR][1000 genomes]
rs7003548	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7008740	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248113	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248122	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248134	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73248138	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250233	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250238	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250241	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250244	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250249	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250250	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250252	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250262	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73253909	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73253915	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73253968	1.00[EUR][1000 genomes]
rs73261704	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261763	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73261767	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7828492	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7830436	0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7840192	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7844944	0.85[EUR][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	esv3446467	chr8:66749863-67667068	Enhancers Genic enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv831346	chr8:67486555-67675324	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
3	nsv972250	chr8:67542862-67555066	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:67526400-67558000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr8:67527000-67554000	Weak transcription	NHEK	skin
3	chr8:67539200-67551200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr8:67539400-67574000	Weak transcription	Spleen	Spleen
5	chr8:67542600-67551000	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr8:67543600-67550000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr8:67544400-67550800	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr8:67544600-67550600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr8:67545200-67555800	Weak transcription	Brain Cingulate Gyrus	brain
10	chr8:67545200-67562400	Weak transcription	Fetal Heart	heart
11	chr8:67545200-67575200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr8:67545400-67562400	Weak transcription	Fetal Kidney	kidney
13	chr8:67545400-67575000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr8:67545600-67549400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr8:67545600-67555600	Weak transcription	Brain Substantia Nigra	brain
16	chr8:67545600-67567000	Weak transcription	Small Intestine	intestine
17	chr8:67545600-67574400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr8:67546200-67576800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr8:67546600-67549600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
20	chr8:67546800-67550800	Strong transcription	Fetal Stomach	stomach
21	chr8:67547000-67549000	Weak transcription	Fetal Intestine Small	intestine
22	chr8:67547000-67550200	Weak transcription	Stomach Smooth Muscle	stomach
23	chr8:67547200-67555200	Weak transcription	Psoas Muscle	Psoas
24	chr8:67547200-67555600	Weak transcription	Brain Angular Gyrus	brain
25	chr8:67547200-67561000	Weak transcription	Fetal Lung	lung
26	chr8:67547200-67563800	Weak transcription	Placenta Amnion	Placenta Amnion
27	chr8:67547200-67574200	Weak transcription	Fetal Brain Male	brain
28	chr8:67547400-67550400	Weak transcription	Cortex derived primary cultured neurospheres	brain
29	chr8:67547400-67552600	Weak transcription	Right Ventricle	heart
30	chr8:67547400-67552800	Weak transcription	Brain Germinal Matrix	brain
31	chr8:67547400-67553000	Weak transcription	Lung	lung
32	chr8:67547400-67553200	Weak transcription	Pancreas	Pancrea
33	chr8:67547400-67553800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
34	chr8:67547400-67553800	Weak transcription	NHLF	lung
35	chr8:67547400-67554200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
36	chr8:67547400-67554200	Weak transcription	Brain Hippocampus Middle	brain
37	chr8:67547400-67555600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:67547400-67555600	Weak transcription	Brain Anterior Caudate	brain
39	chr8:67547400-67559800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
40	chr8:67547400-67561200	Weak transcription	Rectal Smooth Muscle	rectum
41	chr8:67547400-67561600	Weak transcription	A549	lung
42	chr8:67547400-67562000	Weak transcription	HMEC	breast
43	chr8:67547400-67562200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
44	chr8:67547400-67562400	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr8:67547400-67562400	Weak transcription	Duodenum Smooth Muscle	Duodenum
46	chr8:67547400-67574400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:67547400-67574400	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr8:67547400-67574600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
49	chr8:67547600-67549000	Weak transcription	Primary T helper cells fromperipheralblood	blood
50	chr8:67547600-67549000	Weak transcription	Rectal Mucosa Donor 29	rectum

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