Variant report

Variant	rs7599017
Chromosome Location	chr2:39617469-39617470
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:39609764..39613069-chr2:39616003..39618259,3	K562	blood:
2	chr2:39609687..39611705-chr2:39616277..39618886,3	K562	blood:

Extended variants
information (count: 70 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:66)

rs_ID	r²[population]
rs10199948	1.00[EUR][1000 genomes]
rs10490305	0.93[AFR][1000 genomes]
rs11886110	0.95[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs11886434	0.85[AFR][1000 genomes]
rs11888511	0.89[EUR][1000 genomes]
rs11895366	0.93[AFR][1000 genomes]
rs11898025	0.89[EUR][1000 genomes]
rs11898704	0.93[AFR][1000 genomes]
rs11902188	0.97[AFR][1000 genomes];0.92[ASN][1000 genomes]
rs17023405	0.89[EUR][1000 genomes]
rs17023552	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17023573	0.89[EUR][1000 genomes]
rs17023584	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17023620	0.82[AFR][1000 genomes]
rs17038958	0.92[ASN][1000 genomes]
rs2708227	0.84[EUR][1000 genomes]
rs3770661	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs55750780	0.82[AFR][1000 genomes]
rs55797011	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs55961227	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56024079	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs56361338	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs56850142	0.82[ASN][1000 genomes]
rs56928728	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs57084694	0.84[AFR][1000 genomes]
rs57271382	0.89[EUR][1000 genomes]
rs58005382	0.82[ASN][1000 genomes]
rs58824151	0.98[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs59121834	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs59459399	0.92[ASN][1000 genomes]
rs59707152	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs59896787	0.84[AFR][1000 genomes]
rs60394429	0.93[AFR][1000 genomes]
rs61219633	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6544225	0.98[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6712399	1.00[AFR][1000 genomes]
rs6718000	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6723987	0.90[AFR][1000 genomes]
rs6725784	0.82[AFR][1000 genomes]
rs6727395	1.00[AFR][1000 genomes]
rs6751506	1.00[AFR][1000 genomes];0.84[ASN][1000 genomes]
rs6755534	1.00[EUR][1000 genomes]
rs72921023	0.89[EUR][1000 genomes]
rs72927494	0.89[EUR][1000 genomes]
rs73923836	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73923842	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73923844	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73923847	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs73923887	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73923888	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73923889	0.98[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs73923895	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73924011	0.85[AFR][1000 genomes]
rs73924013	0.85[AFR][1000 genomes]
rs73924016	0.84[AFR][1000 genomes]
rs73924810	0.85[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73924815	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73924816	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73924817	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73924818	0.93[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs73930538	0.89[EUR][1000 genomes]
rs7565210	0.90[AFR][1000 genomes]
rs7588265	1.00[EUR][1000 genomes]
rs7591563	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7595047	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7596222	1.00[EUR][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	nsv581494	chr2:39277851-39626388	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	esv1827292	chr2:39385155-39675339	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
3	esv1812828	chr2:39396457-39675339	Flanking Active TSS Strong transcription Active TSS Enhancers Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv997934	chr2:39473548-39751029	Enhancers Strong transcription ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:69 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:39588000-39630400	Weak transcription	Placenta	Placenta
2	chr2:39591800-39621400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr2:39592800-39617600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr2:39603200-39638400	Weak transcription	Hela-S3	cervix
5	chr2:39603400-39625000	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr2:39603400-39626800	Weak transcription	Primary T cells from cord blood	blood
7	chr2:39607000-39626800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr2:39607400-39624800	Weak transcription	Stomach Mucosa	stomach
9	chr2:39607600-39619800	Weak transcription	Primary hematopoietic stem cells	blood
10	chr2:39607600-39643400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr2:39608000-39622800	Weak transcription	Fetal Kidney	kidney
12	chr2:39608400-39621000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr2:39608400-39626200	Weak transcription	Brain Substantia Nigra	brain
14	chr2:39609200-39621600	Weak transcription	Lung	lung
15	chr2:39609400-39621200	Weak transcription	Brain Angular Gyrus	brain
16	chr2:39609400-39621200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
17	chr2:39609400-39621600	Weak transcription	HSMM	muscle
18	chr2:39609600-39621200	Weak transcription	Brain Hippocampus Middle	brain
19	chr2:39609600-39621400	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr2:39609600-39621600	Weak transcription	Muscle Satellite Cultured Cells	--
21	chr2:39609600-39621600	Weak transcription	NH-A	brain
22	chr2:39609600-39621600	Weak transcription	Osteobl	bone
23	chr2:39609600-39626400	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr2:39610000-39621200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr2:39610200-39621800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr2:39610200-39626400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr2:39613000-39621400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr2:39613200-39618200	Enhancers	Colon Smooth Muscle	Colon
29	chr2:39613400-39621200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr2:39613600-39621600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr2:39613600-39621600	Weak transcription	Cortex derived primary cultured neurospheres	brain
32	chr2:39613800-39630600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr2:39614000-39619800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr2:39614000-39628000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr2:39614600-39617800	Enhancers	Rectal Smooth Muscle	rectum
36	chr2:39614600-39617800	Enhancers	Skeletal Muscle Female	skeletal muscle
37	chr2:39614600-39618000	Enhancers	Skeletal Muscle Male	skeletal muscle
38	chr2:39614800-39618800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr2:39614800-39620800	Weak transcription	Right Ventricle	heart
40	chr2:39614800-39621600	Weak transcription	Pancreas	Pancrea
41	chr2:39615200-39619600	Weak transcription	Liver	Liver
42	chr2:39615600-39619000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
43	chr2:39615600-39621400	Weak transcription	Stomach Smooth Muscle	stomach
44	chr2:39615800-39621200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr2:39615800-39626800	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr2:39616000-39618800	Weak transcription	Right Atrium	heart
47	chr2:39616000-39620200	Weak transcription	Fetal Lung	lung
48	chr2:39616000-39620800	Weak transcription	Left Ventricle	heart
49	chr2:39616000-39621200	Weak transcription	Aorta	Aorta
50	chr2:39616000-39622200	Weak transcription	Fetal Stomach	stomach

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