Variant report

Variant	rs273941
Chromosome Location	chr7:137580907-137580908
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:137580093..137581806-chr7:137582127..137584473,2	K562	blood:
2	chr7:137575157..137577662-chr7:137579588..137583065,4	K562	blood:
3	chr7:137575157..137577662-chr7:137579588..137582009,3	K562	blood:

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs1646539	0.83[ASN][1000 genomes]
rs1646540	0.88[CEU][hapmap];0.84[JPT][hapmap];0.85[EUR][1000 genomes]
rs1677498	0.85[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2007564	0.96[CEU][hapmap];0.85[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs273932	0.93[EUR][1000 genomes]
rs273933	0.92[CEU][hapmap];0.84[CHB][hapmap];0.93[JPT][hapmap];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273934	0.85[EUR][1000 genomes]
rs273935	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs273936	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273937	1.00[CEU][hapmap];0.84[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs273938	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273939	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273940	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs273942	0.85[CEU][hapmap];0.87[EUR][1000 genomes]
rs273944	0.88[CEU][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs273970	0.82[CHB][hapmap]
rs273971	0.82[CHB][hapmap]
rs28370936	0.85[AFR][1000 genomes]
rs34608459	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs765229	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7786632	0.86[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022793	chr7:137187383-137619359	Weak transcription Enhancers Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv831150	chr7:137500559-137652808	Enhancers Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
3	nsv518070	chr7:137534627-137808839	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:137555600-137583200	Strong transcription	Monocytes-CD14+_RO01746	blood
2	chr7:137557800-137583800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
3	chr7:137558800-137588400	Weak transcription	Stomach Mucosa	stomach
4	chr7:137567200-137583800	Strong transcription	Liver	Liver
5	chr7:137567400-137583400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr7:137567400-137583800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr7:137567400-137584000	Strong transcription	Fetal Intestine Large	intestine
8	chr7:137568000-137584200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:137568600-137584000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr7:137570400-137584000	Weak transcription	Fetal Thymus	thymus
11	chr7:137570400-137585800	Weak transcription	Hela-S3	cervix
12	chr7:137570600-137583800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:137570600-137585400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
14	chr7:137571400-137584000	Weak transcription	Thymus	Thymus
15	chr7:137571800-137588200	Weak transcription	Brain Angular Gyrus	brain
16	chr7:137572000-137583800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr7:137572000-137584000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:137572000-137584400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr7:137572000-137585800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:137572200-137581800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr7:137572200-137583400	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr7:137572200-137583800	Weak transcription	Fetal Brain Male	brain
23	chr7:137572400-137584200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr7:137572800-137583400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:137573200-137583800	Strong transcription	Duodenum Mucosa	Duodenum
26	chr7:137574000-137583600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
27	chr7:137574200-137582200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:137574200-137584000	Strong transcription	Placenta	Placenta
29	chr7:137574400-137582000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr7:137574600-137583200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
31	chr7:137575200-137581000	Genic enhancers	HepG2	liver
32	chr7:137575200-137583800	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr7:137575400-137581800	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr7:137575400-137591800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:137575600-137582000	Strong transcription	Stomach Smooth Muscle	stomach
36	chr7:137575600-137584000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr7:137576000-137582200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr7:137576000-137583000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr7:137576000-137583800	Weak transcription	Right Atrium	heart
40	chr7:137576400-137581800	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:137576600-137581000	Strong transcription	Duodenum Smooth Muscle	Duodenum
42	chr7:137576600-137581600	Strong transcription	Colon Smooth Muscle	Colon
43	chr7:137576600-137582600	Strong transcription	NHLF	lung
44	chr7:137576600-137583600	Strong transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:137576600-137584000	Strong transcription	HSMM	muscle
46	chr7:137576800-137582400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr7:137576800-137582800	Weak transcription	Fetal Heart	heart
48	chr7:137576800-137583400	Strong transcription	Muscle Satellite Cultured Cells	--
49	chr7:137576800-137583800	Strong transcription	Fetal Lung	lung
50	chr7:137576800-137583800	Weak transcription	Psoas Muscle	Psoas

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