Variant report

Variant	rs17782372
Chromosome Location	chr2:100262282-100262283
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:100256848..100259824-chr2:100260990..100263145,2	K562	blood:
2	chr2:100256848..100260746-chr2:100260857..100263366,4	K562	blood:

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10514778	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17765792	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17782408	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17782756	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58345533	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs58378377	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs59396573	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs60357076	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs60695941	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs61379087	0.85[EUR][1000 genomes]
rs62154468	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154470	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154476	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs62154482	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs62154484	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62154485	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs62154487	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62154492	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs62154519	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62154521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62154522	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62154524	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62154526	0.89[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62154528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62154529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62154530	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62154533	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62154535	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs62154536	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62154538	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62154540	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs62154559	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[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	nsv431424	chr2:99652682-100494682	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv962113	chr2:100022168-100317461	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
3	nsv1003343	chr2:100241560-100848900	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
4	nsv535843	chr2:100241560-100848900	Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:100252400-100263800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr2:100253200-100308800	Weak transcription	Gastric	stomach
3	chr2:100254000-100265000	Weak transcription	Spleen	Spleen
4	chr2:100255400-100268600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr2:100255400-100285400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr2:100255400-100285400	Weak transcription	Dnd41	blood
7	chr2:100256600-100267400	Weak transcription	Fetal Thymus	thymus
8	chr2:100257600-100265000	Weak transcription	Left Ventricle	heart
9	chr2:100257600-100308600	Weak transcription	Thymus	Thymus
10	chr2:100259400-100274600	Weak transcription	Primary T cells from cord blood	blood
11	chr2:100260200-100262600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:100260200-100283600	Strong transcription	Primary B cells from peripheral blood	blood
13	chr2:100260400-100263200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr2:100260600-100265000	Weak transcription	Fetal Muscle Trunk	muscle
15	chr2:100260800-100262400	Weak transcription	Primary B cells from cord blood	blood
16	chr2:100260800-100274400	Weak transcription	Right Atrium	heart
17	chr2:100261200-100264200	Weak transcription	Fetal Heart	heart
18	chr2:100261200-100264600	Weak transcription	Duodenum Smooth Muscle	Duodenum
19	chr2:100261200-100265000	Weak transcription	Brain Anterior Caudate	brain
20	chr2:100261400-100263800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:100261400-100263800	Weak transcription	Fetal Lung	lung
22	chr2:100261400-100264000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:100261400-100264200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr2:100261400-100264400	Weak transcription	NHDF-Ad	bronchial
25	chr2:100261400-100264600	Weak transcription	Brain Angular Gyrus	brain
26	chr2:100261400-100264600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr2:100261400-100264800	Weak transcription	Colon Smooth Muscle	Colon
28	chr2:100261400-100264800	Weak transcription	Fetal Muscle Leg	muscle
29	chr2:100261400-100264800	Weak transcription	Fetal Stomach	stomach
30	chr2:100261400-100264800	Weak transcription	Pancreas	Pancrea
31	chr2:100261400-100265000	Weak transcription	Brain Germinal Matrix	brain
32	chr2:100261400-100265000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr2:100261400-100265000	Weak transcription	Rectal Smooth Muscle	rectum
34	chr2:100261400-100266800	Enhancers	Fetal Brain Male	brain
35	chr2:100261400-100268400	Weak transcription	NH-A	brain
36	chr2:100261400-100279000	Weak transcription	Fetal Kidney	kidney
37	chr2:100261600-100264000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr2:100261600-100264400	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr2:100261600-100265000	Weak transcription	Adipose Nuclei	Adipose
40	chr2:100261600-100265000	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr2:100261800-100265000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr2:100262200-100262800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr2:100262200-100264200	Weak transcription	Fetal Brain Female	brain

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