Variant report

Variant	rs4421339
Chromosome Location	chr8:59542657-59542658
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr8:59541361..59543915-chr8:59561819..59563947,2	K562	blood:
2	chr8:59529012..59531542-chr8:59540953..59542706,2	K562	blood:
3	chr8:59542387..59544626-chr8:59555103..59557426,2	K562	blood:
4	chr8:59541868..59543623-chr8:59545903..59548145,2	K562	blood:

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10504257	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10504258	1.00[MEX][hapmap]
rs16923635	0.84[AMR][1000 genomes]
rs16923636	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55909077	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57773582	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59104727	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59269342	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7001188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7015870	1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240232	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73240235	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250333	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250335	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250339	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250343	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250347	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250349	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73250352	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7833097	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[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	nsv890938	chr8:59355053-59809785	Enhancers Strong transcription Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv890939	chr8:59471187-59544413	Weak transcription Enhancers Genic enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region miRNA target site	3 gene(s)	inside rSNPs	diseases
3	nsv831325	chr8:59492580-59694443	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr8:59467400-59559400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr8:59498600-59548400	Weak transcription	Stomach Mucosa	stomach
3	chr8:59503000-59545400	Weak transcription	Esophagus	oesophagus
4	chr8:59507400-59561200	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr8:59507600-59545400	Weak transcription	Gastric	stomach
6	chr8:59508000-59545400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr8:59509000-59543000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr8:59509000-59560400	Weak transcription	Brain Substantia Nigra	brain
9	chr8:59510200-59554800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr8:59510400-59551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr8:59510400-59570200	Weak transcription	Colonic Mucosa	Colon
12	chr8:59513000-59561200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr8:59520600-59554600	Weak transcription	HMEC	breast
14	chr8:59521000-59542800	Weak transcription	Hela-S3	cervix
15	chr8:59522000-59570200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr8:59522200-59542800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr8:59522200-59545200	Weak transcription	Spleen	Spleen
18	chr8:59524200-59554400	Weak transcription	NHEK	skin
19	chr8:59529400-59554600	Weak transcription	Primary neutrophils fromperipheralblood	blood
20	chr8:59529600-59543000	Weak transcription	HSMM	muscle
21	chr8:59532000-59543800	Strong transcription	Monocytes-CD14+_RO01746	blood
22	chr8:59532000-59545600	Weak transcription	NHDF-Ad	bronchial
23	chr8:59533800-59553000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
24	chr8:59535200-59543200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr8:59535800-59546800	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr8:59535800-59552400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr8:59535800-59561000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr8:59535800-59561000	Weak transcription	Small Intestine	intestine
29	chr8:59536200-59564000	Weak transcription	Fetal Brain Male	brain
30	chr8:59539000-59544600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr8:59539200-59543600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
32	chr8:59539600-59543000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr8:59539600-59550800	Weak transcription	A549	lung
34	chr8:59540600-59555600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
35	chr8:59541000-59543400	Strong transcription	Primary hematopoietic stem cells	blood
36	chr8:59541000-59544400	Weak transcription	K562	blood
37	chr8:59541200-59553000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr8:59541400-59542800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr8:59541400-59543400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr8:59541400-59543600	Strong transcription	Duodenum Mucosa	Duodenum
41	chr8:59541400-59543800	Strong transcription	Fetal Muscle Trunk	muscle
42	chr8:59541400-59544400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr8:59541400-59554600	Strong transcription	Fetal Thymus	thymus
44	chr8:59541400-59555200	Strong transcription	Dnd41	blood
45	chr8:59541600-59542800	Strong transcription	HUES48 Cell Line	embryonic stem cell
46	chr8:59541600-59543000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr8:59541600-59543200	Strong transcription	Fetal Kidney	kidney
48	chr8:59541600-59543400	Strong transcription	Brain Germinal Matrix	brain
49	chr8:59541600-59543400	Strong transcription	Fetal Lung	lung
50	chr8:59541600-59543400	Strong transcription	Left Ventricle	heart

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