Variant report

Variant	rs41272442
Chromosome Location	chr8:61742846-61742847
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr8:61737808..61740044-chr8:61741202..61743942,2	K562	blood:
2	chr8:61739971..61742969-chr8:61743968..61746196,2	K562	blood:

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10098584	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10100774	1.00[EUR][1000 genomes]
rs10101023	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10107158	1.00[EUR][1000 genomes]
rs13261519	1.00[ASN][1000 genomes]
rs13269361	1.00[ASN][1000 genomes]
rs13438807	0.85[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16926379	1.00[ASN][1000 genomes]
rs16926398	1.00[ASN][1000 genomes]
rs16926440	1.00[ASN][1000 genomes]
rs16926444	1.00[ASN][1000 genomes]
rs16926456	1.00[ASN][1000 genomes]
rs16926528	1.00[ASN][1000 genomes]
rs28534585	0.86[EUR][1000 genomes]
rs28539174	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28539276	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28667506	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34833917	1.00[ASN][1000 genomes]
rs35777815	1.00[ASN][1000 genomes]
rs41312172	1.00[EUR][1000 genomes]
rs45461501	1.00[EUR][1000 genomes]
rs60899058	1.00[EUR][1000 genomes]
rs62524942	1.00[ASN][1000 genomes]
rs62524943	1.00[ASN][1000 genomes]
rs62524944	1.00[ASN][1000 genomes]
rs62524946	1.00[ASN][1000 genomes]
rs62524950	1.00[ASN][1000 genomes]
rs62524951	1.00[ASN][1000 genomes]
rs62524954	1.00[ASN][1000 genomes]
rs62524956	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62524957	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526484	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526485	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526486	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62526528	1.00[ASN][1000 genomes]
rs6471895	1.00[ASN][1000 genomes]
rs7013969	1.00[ASN][1000 genomes]
rs730084	1.00[ASN][1000 genomes]
rs73254571	1.00[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	nsv917756	chr8:60942299-61862796	Enhancers Weak transcription Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking 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	74 gene(s)	inside rSNPs	diseases
2	nsv526196	chr8:61593569-61877623	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
3	nsv1019330	chr8:61697104-61744335	Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv890946	chr8:61726879-61802076	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats 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	3 gene(s)	inside rSNPs	diseases
5	esv1795586	chr8:61733174-61863906	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Bivalent Enhancer Weak transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:61695000-61743000	Weak transcription	Placenta	Placenta
2	chr8:61704400-61745000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr8:61705600-61743000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr8:61705600-61743000	Weak transcription	Fetal Stomach	stomach
5	chr8:61705600-61743000	Weak transcription	Lung	lung
6	chr8:61705800-61755000	Weak transcription	Psoas Muscle	Psoas
7	chr8:61711800-61743800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr8:61718200-61749400	Weak transcription	Fetal Kidney	kidney
9	chr8:61718800-61781000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr8:61720800-61752600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr8:61726800-61749600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr8:61728200-61749000	Weak transcription	Colon Smooth Muscle	Colon
13	chr8:61728800-61749400	Weak transcription	Small Intestine	intestine
14	chr8:61729200-61751600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
15	chr8:61729800-61743000	Weak transcription	K562	blood
16	chr8:61730200-61743000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
17	chr8:61731800-61751400	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr8:61732000-61752000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
19	chr8:61733000-61743000	Weak transcription	H9 Cell Line	embryonic stem cell
20	chr8:61733200-61750800	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr8:61736400-61746200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
22	chr8:61736400-61746400	Strong transcription	Dnd41	blood
23	chr8:61736400-61752600	Strong transcription	HUES6 Cell Line	embryonic stem cell
24	chr8:61737400-61747400	Weak transcription	Fetal Brain Male	brain
25	chr8:61737800-61760800	Weak transcription	Stomach Mucosa	stomach
26	chr8:61738000-61743200	Weak transcription	Brain Germinal Matrix	brain
27	chr8:61738200-61744000	Strong transcription	Hela-S3	cervix
28	chr8:61738200-61746200	Strong transcription	HepG2	liver
29	chr8:61739000-61746200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr8:61739200-61743000	Weak transcription	Right Ventricle	heart
31	chr8:61739400-61755400	Weak transcription	Esophagus	oesophagus
32	chr8:61740000-61743000	Enhancers	Primary neutrophils fromperipheralblood	blood
33	chr8:61740000-61743400	Strong transcription	Fetal Lung	lung
34	chr8:61740200-61743000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr8:61740400-61780200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
36	chr8:61740600-61745600	Strong transcription	Fetal Muscle Leg	muscle
37	chr8:61740600-61765000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
38	chr8:61740800-61746400	Strong transcription	Primary B cells from cord blood	blood
39	chr8:61740800-61746400	Strong transcription	Rectal Mucosa Donor 31	rectum
40	chr8:61741000-61744600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr8:61741000-61745600	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr8:61741000-61745800	Strong transcription	Duodenum Mucosa	Duodenum
43	chr8:61741000-61746400	Strong transcription	Fetal Intestine Large	intestine
44	chr8:61741000-61748400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
45	chr8:61741000-61750800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr8:61741200-61743000	Weak transcription	HSMMtube	muscle
47	chr8:61741200-61743200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr8:61741200-61743600	Strong transcription	HMEC	breast
49	chr8:61741200-61745000	Strong transcription	Cortex derived primary cultured neurospheres	brain
50	chr8:61741200-61745600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived

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