Variant report

Variant	rs28429673
Chromosome Location	chr2:37212854-37212855
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	chr2:37194465..37196285-chr2:37212369..37214230,2	K562	blood:
2	chr2:37212231..37214849-chr2:37242255..37244987,2	K562	blood:

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs1008839	0.83[ASN][1000 genomes]
rs10181959	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12105607	0.83[ASN][1000 genomes]
rs12105781	0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13383000	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408302	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13408514	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17020147	0.83[ASN][1000 genomes]
rs17332671	0.82[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17404648	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17497654	0.83[ASN][1000 genomes]
rs2110997	0.83[ASN][1000 genomes]
rs2247010	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2372444	0.88[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55800939	0.83[ASN][1000 genomes]
rs56157221	0.83[ASN][1000 genomes]
rs56163481	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs58762847	0.90[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6716891	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6717174	0.87[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6731315	0.83[ASN][1000 genomes]
rs72873841	0.83[ASN][1000 genomes]
rs72873844	0.83[ASN][1000 genomes]
rs72873849	0.83[ASN][1000 genomes]
rs72873859	0.81[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs72873862	0.83[ASN][1000 genomes]
rs72873867	0.83[ASN][1000 genomes]
rs72873871	0.83[ASN][1000 genomes]
rs7562158	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7573717	0.83[ASN][1000 genomes]
rs7600245	0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv456363	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
5	nsv581470	chr2:37109281-37235324	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
6	nsv873879	chr2:37200033-37299145	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:103 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37194400-37214200	Weak transcription	Pancreas	Pancrea
2	chr2:37194400-37229000	Weak transcription	Gastric	stomach
3	chr2:37194800-37226400	Weak transcription	Placenta Amnion	Placenta Amnion
4	chr2:37194800-37232400	Weak transcription	NHLF	lung
5	chr2:37195000-37213800	Weak transcription	Right Ventricle	heart
6	chr2:37195000-37224200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr2:37195200-37214000	Weak transcription	Brain Anterior Caudate	brain
8	chr2:37195200-37217400	Weak transcription	NHDF-Ad	bronchial
9	chr2:37195200-37225400	Weak transcription	Skeletal Muscle Male	skeletal muscle
10	chr2:37195200-37252800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr2:37195400-37213800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
12	chr2:37195400-37215000	Weak transcription	Brain Hippocampus Middle	brain
13	chr2:37195400-37217600	Weak transcription	Brain Cingulate Gyrus	brain
14	chr2:37195400-37227400	Weak transcription	A549	lung
15	chr2:37195400-37227600	Weak transcription	HUVEC	blood vessel
16	chr2:37195400-37248600	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr2:37195600-37215200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
18	chr2:37195600-37231400	Weak transcription	Brain Angular Gyrus	brain
19	chr2:37195800-37229000	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr2:37196000-37213800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr2:37196200-37226400	Weak transcription	Dnd41	blood
22	chr2:37200200-37213800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr2:37201000-37225200	Weak transcription	K562	blood
24	chr2:37202000-37228800	Weak transcription	Spleen	Spleen
25	chr2:37202600-37215200	Weak transcription	Stomach Smooth Muscle	stomach
26	chr2:37202800-37213800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:37202800-37214200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr2:37202800-37228800	Weak transcription	Aorta	Aorta
29	chr2:37203600-37231600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr2:37204200-37227600	Weak transcription	HepG2	liver
31	chr2:37204400-37228800	Weak transcription	Esophagus	oesophagus
32	chr2:37205200-37214200	Weak transcription	Thymus	Thymus
33	chr2:37205200-37220800	Weak transcription	Muscle Satellite Cultured Cells	--
34	chr2:37205200-37229400	Weak transcription	Brain Substantia Nigra	brain
35	chr2:37205400-37214200	Weak transcription	Fetal Thymus	thymus
36	chr2:37205600-37225200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr2:37206000-37213800	Weak transcription	HSMMtube	muscle
38	chr2:37206200-37218400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr2:37206400-37218200	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr2:37206800-37215600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr2:37206800-37227400	Weak transcription	NHEK	skin
42	chr2:37207000-37225200	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr2:37207200-37214200	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr2:37207200-37215600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
45	chr2:37207400-37213800	Weak transcription	Fetal Stomach	stomach
46	chr2:37207400-37213800	Weak transcription	Lung	lung
47	chr2:37207400-37214000	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
48	chr2:37207600-37213800	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr2:37207600-37213800	Weak transcription	Ovary	ovary
50	chr2:37207600-37214000	Weak transcription	Fetal Muscle Leg	muscle

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