Variant report

Variant	rs4262190
Chromosome Location	chr6:56567202-56567203
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	chr6:56565438..56567877-chr6:56572534..56575262,2	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10498811	0.91[EUR][1000 genomes]
rs13191164	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13192037	0.91[EUR][1000 genomes]
rs13196211	0.89[EUR][1000 genomes]
rs13205013	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs13206849	0.91[EUR][1000 genomes]
rs16888118	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16888124	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs16888126	0.88[EUR][1000 genomes]
rs16888128	0.80[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs16888130	0.92[EUR][1000 genomes]
rs16888133	0.91[EUR][1000 genomes]
rs17684511	0.91[EUR][1000 genomes]
rs17684553	0.92[EUR][1000 genomes]
rs17684571	0.92[EUR][1000 genomes]
rs17751682	0.91[EUR][1000 genomes]
rs17751695	0.91[EUR][1000 genomes]
rs34138864	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs34576803	0.89[EUR][1000 genomes]
rs34724718	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35206656	0.92[EUR][1000 genomes]
rs35408048	0.91[EUR][1000 genomes]
rs35619924	0.91[EUR][1000 genomes]
rs35637749	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs35668437	0.91[EUR][1000 genomes]
rs35687635	0.92[EUR][1000 genomes]
rs4072271	0.92[EUR][1000 genomes]
rs4073960	0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs4074101	0.91[EUR][1000 genomes]
rs4074102	0.91[EUR][1000 genomes]
rs4074103	0.88[EUR][1000 genomes]
rs5024547	0.91[EUR][1000 genomes]
rs55742092	0.91[EUR][1000 genomes]
rs56101897	0.91[EUR][1000 genomes]
rs62412526	0.91[EUR][1000 genomes]
rs62412528	0.91[EUR][1000 genomes]
rs62412531	0.91[EUR][1000 genomes]
rs62412532	0.91[EUR][1000 genomes]
rs6901176	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6924375	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs71564848	0.89[EUR][1000 genomes]
rs71564849	0.92[EUR][1000 genomes]
rs7767128	0.88[AMR][1000 genomes];0.91[EUR][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	nsv491933	chr6:56177722-57171010	Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv934026	chr6:56382056-57184218	Flanking Bivalent TSS/Enh Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv533050	chr6:56504480-57297586	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:56549600-56573600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
2	chr6:56549800-56578000	Weak transcription	Gastric	stomach
3	chr6:56554000-56574600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr6:56555400-56574600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr6:56555800-56573600	Weak transcription	HUES48 Cell Line	embryonic stem cell
6	chr6:56556000-56568400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr6:56556200-56573600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
8	chr6:56556200-56574400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr6:56556400-56568000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr6:56558200-56569800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr6:56558200-56573400	Weak transcription	Stomach Mucosa	stomach
12	chr6:56558200-56578200	Weak transcription	Aorta	Aorta
13	chr6:56558400-56571600	Weak transcription	Fetal Stomach	stomach
14	chr6:56558400-56573200	Weak transcription	Adipose Nuclei	Adipose
15	chr6:56558400-56577800	Weak transcription	Ovary	ovary
16	chr6:56558400-56579400	Weak transcription	Right Ventricle	heart
17	chr6:56558600-56577800	Weak transcription	Fetal Heart	heart
18	chr6:56559600-56572600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
19	chr6:56559600-56573000	Weak transcription	NH-A	brain
20	chr6:56559800-56577800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr6:56560200-56579800	Weak transcription	Fetal Muscle Leg	muscle
22	chr6:56560400-56569800	Weak transcription	Brain Anterior Caudate	brain
23	chr6:56560400-56577200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr6:56560600-56572200	Weak transcription	NHDF-Ad	bronchial
25	chr6:56560600-56572400	Weak transcription	HMEC	breast
26	chr6:56561200-56568400	Weak transcription	HUVEC	blood vessel
27	chr6:56561200-56571800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr6:56561400-56573200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr6:56562000-56569800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr6:56562000-56569800	Weak transcription	Left Ventricle	heart
31	chr6:56562000-56573200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr6:56562200-56567600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr6:56562200-56571600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr6:56562400-56569800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr6:56562600-56572400	Weak transcription	NHLF	lung
36	chr6:56562600-56574400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
37	chr6:56562800-56569800	Weak transcription	Brain Inferior Temporal Lobe	brain
38	chr6:56563000-56567600	Weak transcription	HSMMtube	muscle
39	chr6:56563000-56568200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr6:56563000-56569800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr6:56563000-56571800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr6:56563000-56578000	Weak transcription	Psoas Muscle	Psoas
43	chr6:56563600-56567600	Weak transcription	Muscle Satellite Cultured Cells	--
44	chr6:56563600-56573400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr6:56563800-56569400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr6:56564000-56567600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr6:56564000-56567800	Weak transcription	Brain Angular Gyrus	brain
48	chr6:56564000-56568400	Weak transcription	Brain Substantia Nigra	brain
49	chr6:56564000-56569800	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr6:56564000-56573200	Weak transcription	Liver	Liver

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