Variant report

Variant	rs1010930
Chromosome Location	chr10:52298995-52298996
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr10:52291946..52294684-chr10:52298483..52300716,2	K562	blood:
2	chr10:52298860..52301345-chr10:52384125..52385728,2	MCF-7	breast:
3	chr10:52289138..52291213-chr10:52296905..52299166,2	K562	blood:
4	chr10:52297940..52300313-chr10:52383188..52385616,2	K562	blood:

Variant related genes	Relation type
ENSG00000226200	Chromatin interaction
ENSG00000198964	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:47)

rs_ID	r²[population]
rs10763535	1.00[ASN][1000 genomes]
rs10763550	0.93[ASN][1000 genomes]
rs10763560	0.89[ASN][1000 genomes]
rs10763566	0.90[ASN][1000 genomes]
rs10826149	0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10826155	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10826159	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10826160	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10826161	1.00[ASN][1000 genomes]
rs10826163	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10826164	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10826165	0.94[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10826166	1.00[ASN][1000 genomes]
rs10826167	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10826170	0.94[ASN][1000 genomes]
rs10826228	0.90[ASN][1000 genomes]
rs11006084	0.98[ASN][1000 genomes]
rs11006114	1.00[ASN][1000 genomes]
rs11006118	1.00[ASN][1000 genomes]
rs11006141	0.92[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11006160	0.92[ASN][1000 genomes]
rs11006201	0.87[ASN][1000 genomes]
rs11006217	0.90[ASN][1000 genomes]
rs12415817	1.00[ASN][1000 genomes]
rs12415836	1.00[ASN][1000 genomes]
rs12572387	0.90[ASN][1000 genomes]
rs1884570	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2144861	0.94[ASN][1000 genomes]
rs2224249	0.83[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs3011777	0.88[ASN][1000 genomes]
rs34659292	1.00[ASN][1000 genomes]
rs36122110	1.00[ASN][1000 genomes]
rs4935173	1.00[ASN][1000 genomes]
rs4935174	0.99[ASN][1000 genomes]
rs4935733	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7074764	0.90[ASN][1000 genomes]
rs7078284	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7088141	0.90[ASN][1000 genomes]
rs7094143	1.00[ASN][1000 genomes]
rs7893884	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7900424	0.84[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs7902354	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs7907260	0.98[ASN][1000 genomes]
rs7915606	0.82[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7916397	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9299582	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9919413	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1054775	chr10:51595893-52392361	Enhancers ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
2	nsv1051087	chr10:51886486-52447295	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
3	nsv916214	chr10:51886486-52458983	Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv918212	chr10:51886486-52465482	Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv817412	chr10:51911034-52432990	Weak transcription Enhancers Genic enhancers Active TSS Strong transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv469522	chr10:52276564-52447589	Flanking Active TSS Enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
7	nsv482564	chr10:52276564-52447589	Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr10:52271600-52300600	Weak transcription	Aorta	Aorta
2	chr10:52272600-52302800	Weak transcription	Fetal Stomach	stomach
3	chr10:52273600-52299800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
4	chr10:52280200-52328000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr10:52282800-52301200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
6	chr10:52283000-52300400	Weak transcription	Psoas Muscle	Psoas
7	chr10:52286400-52304000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
8	chr10:52287800-52302800	Weak transcription	Primary hematopoietic stem cells	blood
9	chr10:52288600-52300000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr10:52289400-52300000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr10:52296600-52300600	Enhancers	Brain Anterior Caudate	brain
12	chr10:52296800-52302800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr10:52296800-52306000	Enhancers	Primary T helper cells PMA-I stimulated	--
14	chr10:52297000-52300400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr10:52297000-52300400	Weak transcription	Skeletal Muscle Female	skeletal muscle
16	chr10:52297000-52302800	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr10:52297000-52304400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
18	chr10:52297000-52304600	Weak transcription	HUES6 Cell Line	embryonic stem cell
19	chr10:52297200-52301400	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr10:52297400-52299400	Enhancers	Placenta	Placenta
21	chr10:52297400-52306000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr10:52297600-52299200	Enhancers	Stomach Mucosa	stomach
23	chr10:52297800-52302800	Weak transcription	Thymus	Thymus
24	chr10:52298200-52299000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr10:52298200-52299000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
26	chr10:52298200-52299000	Enhancers	Fetal Intestine Large	intestine
27	chr10:52298200-52299000	Enhancers	Left Ventricle	heart
28	chr10:52298200-52299200	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr10:52298200-52299200	Enhancers	Fetal Intestine Small	intestine
30	chr10:52298200-52299800	Enhancers	Brain Angular Gyrus	brain
31	chr10:52298200-52301600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr10:52298200-52301800	Enhancers	Fetal Heart	heart
33	chr10:52298200-52302200	Enhancers	Brain Cingulate Gyrus	brain
34	chr10:52298400-52299000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr10:52298400-52299000	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr10:52298400-52299000	Enhancers	Primary T cells fromperipheralblood	blood
37	chr10:52298400-52299000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
38	chr10:52298400-52299200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr10:52298400-52299200	Enhancers	Right Atrium	heart
40	chr10:52298400-52299200	Enhancers	Right Ventricle	heart
41	chr10:52298400-52299200	Enhancers	HUVEC	blood vessel
42	chr10:52298400-52299600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr10:52298400-52300600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr10:52298400-52301000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
45	chr10:52298400-52303400	Enhancers	Primary B cells from peripheral blood	blood
46	chr10:52298600-52299000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr10:52298600-52299000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr10:52298600-52299000	Flanking Active TSS	Brain Hippocampus Middle	brain
49	chr10:52298600-52299000	Flanking Active TSS	Brain Substantia Nigra	brain
50	chr10:52298600-52299000	Enhancers	Esophagus	oesophagus

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