Variant report

Variant	rs7920048
Chromosome Location	chr10:6475845-6475846
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	chr10:6470360..6472017-chr10:6474938..6476663,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10906569	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11258608	0.83[EUR][1000 genomes]
rs11258610	0.83[EUR][1000 genomes]
rs11258759	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11258762	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11258959	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs11258960	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs12146312	0.85[EUR][1000 genomes]
rs2453	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4750434	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4750439	0.92[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4750457	0.87[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4750461	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4750495	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs586457	0.82[EUR][1000 genomes]
rs594841	0.80[EUR][1000 genomes]
rs6602699	0.82[ASN][1000 genomes]
rs670804	0.83[EUR][1000 genomes]
rs673964	0.83[EUR][1000 genomes]
rs677986	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs681803	0.82[EUR][1000 genomes]
rs7076533	0.91[AFR][1000 genomes];0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7091849	0.82[EUR][1000 genomes]
rs7099451	0.87[EUR][1000 genomes]
rs72781706	0.82[EUR][1000 genomes]
rs943456	0.87[EUR][1000 genomes]
rs944712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs944713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs944715	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	nsv1042286	chr10:5795129-6578445	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1054044	chr10:6155144-6487217	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv430125	chr10:6322167-6477267	Enhancers Flanking Active TSS Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv1053440	chr10:6354798-6669469	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:6452600-6478600	Weak transcription	Brain Anterior Caudate	brain
2	chr10:6452600-6481400	Weak transcription	Brain Substantia Nigra	brain
3	chr10:6456200-6496600	Weak transcription	Pancreas	Pancrea
4	chr10:6460600-6481200	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr10:6464200-6487200	Strong transcription	Fetal Thymus	thymus
6	chr10:6464400-6485800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr10:6464600-6490600	Strong transcription	Primary T cells from cord blood	blood
8	chr10:6464800-6487400	Strong transcription	Thymus	Thymus
9	chr10:6465800-6481000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr10:6465800-6486600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr10:6465800-6496200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr10:6465800-6496600	Weak transcription	Psoas Muscle	Psoas
13	chr10:6465800-6501400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr10:6466000-6486600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
15	chr10:6466400-6487800	Weak transcription	Fetal Stomach	stomach
16	chr10:6467000-6487200	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr10:6467400-6496200	Weak transcription	Lung	lung
18	chr10:6467600-6481000	Weak transcription	Fetal Intestine Small	intestine
19	chr10:6467600-6487600	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr10:6467800-6486000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr10:6467800-6487000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr10:6467800-6487400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr10:6467800-6487600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr10:6468000-6483800	Weak transcription	K562	blood
25	chr10:6468000-6487600	Strong transcription	Primary T helper cells PMA-I stimulated	--
26	chr10:6468000-6487800	Weak transcription	Brain Angular Gyrus	brain
27	chr10:6468200-6496800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr10:6468400-6477600	Weak transcription	Duodenum Mucosa	Duodenum
29	chr10:6468400-6478800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr10:6468400-6484600	Weak transcription	Spleen	Spleen
31	chr10:6469200-6477400	Strong transcription	Primary T helper naive cells from peripheral blood	blood
32	chr10:6469200-6479400	Strong transcription	Dnd41	blood
33	chr10:6469800-6484000	Weak transcription	Sigmoid Colon	Sigmoid Colon
34	chr10:6470200-6480600	Weak transcription	Fetal Muscle Trunk	muscle
35	chr10:6470200-6483400	Weak transcription	Brain Cingulate Gyrus	brain
36	chr10:6471200-6490200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr10:6473000-6480600	Weak transcription	Fetal Muscle Leg	muscle
38	chr10:6473200-6477000	Weak transcription	Adipose Nuclei	Adipose
39	chr10:6473400-6478600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr10:6473600-6476800	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr10:6473600-6477200	Weak transcription	Primary hematopoietic stem cells	blood
42	chr10:6473600-6478400	Weak transcription	Aorta	Aorta
43	chr10:6473600-6478400	Weak transcription	Brain Hippocampus Middle	brain
44	chr10:6473600-6480600	Weak transcription	HUES6 Cell Line	embryonic stem cell
45	chr10:6473600-6483600	Weak transcription	H9 Cell Line	embryonic stem cell
46	chr10:6473600-6487800	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr10:6474200-6490400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
48	chr10:6474400-6487400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr10:6474600-6479600	Strong transcription	Skeletal Muscle Male	skeletal muscle
50	chr10:6475400-6476200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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