Variant report

Variant	rs10919296
Chromosome Location	chr1:170043463-170043464
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:170042562..170044134-chr1:170053938..170056849,2	K562	blood:

Variant related genes	Relation type
ENSG00000075945	Chromatin interaction

Extended variants
information (count: 45 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10158922	1.00[AMR][1000 genomes]
rs10218486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10919276	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919288	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919294	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919295	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10919300	1.00[EUR][1000 genomes]
rs10919308	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12025296	1.00[EUR][1000 genomes]
rs12061373	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12061500	1.00[AMR][1000 genomes]
rs12061626	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12066551	1.00[EUR][1000 genomes]
rs12071325	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12073288	1.00[EUR][1000 genomes]
rs12075569	1.00[EUR][1000 genomes]
rs12076018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077685	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12077708	1.00[EUR][1000 genomes]
rs12079608	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12084420	1.00[AMR][1000 genomes]
rs12087450	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12088186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12090220	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12091389	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12095784	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862886	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16862978	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2103641	1.00[EUR][1000 genomes]
rs2272912	1.00[EUR][1000 genomes]
rs2901261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4279900	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57038529	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73023529	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73023593	1.00[EUR][1000 genomes]
rs73041148	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73041149	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122312	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122421	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122422	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74122452	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7531947	1.00[EUR][1000 genomes]
rs989054	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1014033	chr1:169968488-170453021	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
2	nsv535200	chr1:169968488-170453021	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer 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	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:170041000-170044200	Active TSS	GM12878-XiMat	blood
2	chr1:170041400-170044200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr1:170042000-170044200	Active TSS	HMEC	breast
4	chr1:170042000-170044200	Active TSS	K562	blood
5	chr1:170042000-170044400	Active TSS	NHLF	lung
6	chr1:170042000-170044600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr1:170042200-170044000	Active TSS	Brain Angular Gyrus	brain
8	chr1:170042400-170044200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:170042400-170044200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
10	chr1:170042400-170044200	Active TSS	Fetal Lung	lung
11	chr1:170042400-170044200	Active TSS	NHDF-Ad	bronchial
12	chr1:170042400-170044600	Active TSS	Brain Inferior Temporal Lobe	brain
13	chr1:170042600-170043600	Flanking Active TSS	Primary T cells from cord blood	blood
14	chr1:170042600-170043600	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
15	chr1:170042600-170043600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:170042600-170043600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr1:170042600-170043600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:170042600-170043600	Flanking Active TSS	Adipose Nuclei	Adipose
19	chr1:170042600-170044200	Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr1:170042600-170044200	Active TSS	Brain Germinal Matrix	brain
21	chr1:170042600-170044200	Active TSS	Stomach Smooth Muscle	stomach
22	chr1:170042600-170044400	Active TSS	Aorta	Aorta
23	chr1:170042600-170044400	Active TSS	Brain Substantia Nigra	brain
24	chr1:170042600-170044400	Active TSS	Fetal Brain Male	brain
25	chr1:170042600-170044400	Active TSS	Fetal Brain Female	brain
26	chr1:170042600-170044400	Active TSS	Fetal Intestine Large	intestine
27	chr1:170042600-170044400	Active TSS	Ovary	ovary
28	chr1:170042600-170044400	Active TSS	Psoas Muscle	Psoas
29	chr1:170042600-170044400	Active TSS	Stomach Mucosa	stomach
30	chr1:170042600-170044400	Active TSS	A549	lung
31	chr1:170042600-170044600	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr1:170042600-170044600	Active TSS	Right Ventricle	heart
33	chr1:170042800-170043600	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
34	chr1:170042800-170043600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
35	chr1:170042800-170044200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:170042800-170044200	Active TSS	Duodenum Smooth Muscle	Duodenum
37	chr1:170042800-170044200	Active TSS	Fetal Stomach	stomach
38	chr1:170042800-170044200	Active TSS	NH-A	brain
39	chr1:170042800-170044400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr1:170042800-170044400	Active TSS	HUES48 Cell Line	embryonic stem cell
41	chr1:170042800-170044400	Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr1:170042800-170044400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
43	chr1:170042800-170044400	Active TSS	Brain Anterior Caudate	brain
44	chr1:170042800-170044400	Active TSS	Brain Cingulate Gyrus	brain
45	chr1:170042800-170044600	Active TSS	iPS-20b Cell Line	embryonic stem cell
46	chr1:170042800-170044600	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr1:170042800-170044600	Active TSS	Pancreatic Islets	Pancreatic Islet
48	chr1:170042800-170044600	Active TSS	Right Atrium	heart
49	chr1:170043000-170043600	Flanking Active TSS	Primary B cells from cord blood	blood
50	chr1:170043000-170043600	Flanking Active TSS	Primary B cells from peripheral blood	blood

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