Variant report

Variant	rs12533765
Chromosome Location	chr7:127699186-127699187
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127696497..127699429-chr7:127710234..127711960,2	K562	blood:
2	chr7:127675207..127677284-chr7:127698016..127699681,2	K562	blood:
3	chr7:127698659..127700459-chr7:127702955..127704877,2	K562	blood:

Extended variants
information (count: 66 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs10254438	1.00[ASN][1000 genomes]
rs10269842	1.00[ASN][1000 genomes]
rs10447853	1.00[ASN][1000 genomes]
rs10447854	1.00[ASN][1000 genomes]
rs10447855	1.00[ASN][1000 genomes]
rs10487502	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12154534	1.00[ASN][1000 genomes]
rs12155421	0.92[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12532894	0.89[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12534062	1.00[ASN][1000 genomes]
rs12534918	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs12537331	1.00[CHB][hapmap];0.85[GIH][hapmap];1.00[MEX][hapmap];0.84[TSI][hapmap];1.00[ASN][1000 genomes]
rs12706821	1.00[GIH][hapmap];0.86[MEX][hapmap]
rs1362898	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1419970	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs17151466	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs17151488	1.00[YRI][hapmap]
rs17151507	1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap]
rs17151639	0.83[CEU][hapmap];0.88[EUR][1000 genomes]
rs17151653	0.93[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs17151668	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.89[TSI][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs17151682	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17151707	0.89[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.96[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151739	1.00[CHB][hapmap];0.85[GIH][hapmap];0.93[MEX][hapmap];0.84[TSI][hapmap];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs17679136	1.00[ASN][1000 genomes]
rs17679208	1.00[ASN][1000 genomes]
rs17732242	1.00[CHB][hapmap];1.00[ASN][1000 genomes]
rs17735893	1.00[ASN][1000 genomes]
rs17735958	1.00[ASN][1000 genomes]
rs28399051	1.00[ASN][1000 genomes]
rs28541365	1.00[ASN][1000 genomes]
rs28558944	1.00[ASN][1000 genomes]
rs28566925	1.00[ASN][1000 genomes]
rs28625157	1.00[ASN][1000 genomes]
rs28692983	1.00[ASN][1000 genomes]
rs41464647	1.00[GIH][hapmap];1.00[MEX][hapmap]
rs56340588	1.00[ASN][1000 genomes]
rs58489175	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs62484024	1.00[ASN][1000 genomes]
rs62484025	1.00[ASN][1000 genomes]
rs62484026	1.00[ASN][1000 genomes]
rs62484029	1.00[ASN][1000 genomes]
rs62484030	1.00[ASN][1000 genomes]
rs62484031	1.00[ASN][1000 genomes]
rs62484032	1.00[ASN][1000 genomes]
rs62484033	1.00[ASN][1000 genomes]
rs6467157	0.82[ASW][hapmap];0.85[GIH][hapmap];0.93[MEX][hapmap]
rs6948605	0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs6953231	0.94[CEU][hapmap];0.86[MEX][hapmap];0.89[TSI][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6962635	1.00[ASW][hapmap];0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.92[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.89[TSI][hapmap];0.90[YRI][hapmap];0.98[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6965344	1.00[ASN][1000 genomes]
rs6975863	1.00[ASN][1000 genomes]
rs73226626	1.00[ASN][1000 genomes]
rs73232939	1.00[ASN][1000 genomes]
rs73232968	0.87[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs73232972	0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73238078	0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73238088	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239704	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73239710	1.00[ASN][1000 genomes]
rs741094	0.82[ASW][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.81[TSI][hapmap]
rs7805021	1.00[ASW][hapmap];0.83[CEU][hapmap];1.00[GIH][hapmap];0.89[TSI][hapmap];0.83[YRI][hapmap];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7809182	0.85[GIH][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	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127669400-127726600	Weak transcription	Hela-S3	cervix
2	chr7:127669600-127718200	Weak transcription	A549	lung
3	chr7:127673200-127712000	Weak transcription	Esophagus	oesophagus
4	chr7:127673800-127703400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr7:127673800-127715400	Weak transcription	Stomach Smooth Muscle	stomach
6	chr7:127678000-127701200	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr7:127681000-127716200	Weak transcription	H9 Cell Line	embryonic stem cell
8	chr7:127681200-127718200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr7:127681600-127714600	Weak transcription	Duodenum Smooth Muscle	Duodenum
10	chr7:127683000-127708800	Weak transcription	Duodenum Mucosa	Duodenum
11	chr7:127683200-127700600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:127684400-127701400	Weak transcription	Fetal Muscle Trunk	muscle
13	chr7:127685000-127710400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr7:127689400-127717000	Weak transcription	Primary hematopoietic stem cells	blood
15	chr7:127691400-127699200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:127692800-127699600	Weak transcription	Left Ventricle	heart
17	chr7:127692800-127703200	Weak transcription	Pancreas	Pancrea
18	chr7:127692800-127714400	Weak transcription	Right Ventricle	heart
19	chr7:127692800-127724200	Weak transcription	Right Atrium	heart
20	chr7:127693200-127718400	Weak transcription	HMEC	breast
21	chr7:127693400-127701800	Weak transcription	Fetal Muscle Leg	muscle
22	chr7:127693400-127703600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr7:127693400-127706400	Weak transcription	Brain Cingulate Gyrus	brain
24	chr7:127693400-127708800	Strong transcription	Fetal Intestine Small	intestine
25	chr7:127693400-127711600	Weak transcription	Adipose Nuclei	Adipose
26	chr7:127693400-127714200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr7:127693400-127716600	Weak transcription	Colonic Mucosa	Colon
28	chr7:127693400-127717200	Weak transcription	Small Intestine	intestine
29	chr7:127693600-127710200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
30	chr7:127693800-127699400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:127693800-127701200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
32	chr7:127693800-127702000	Weak transcription	Brain Angular Gyrus	brain
33	chr7:127694200-127707000	Strong transcription	Monocytes-CD14+_RO01746	blood
34	chr7:127694400-127706400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr7:127694400-127707400	Weak transcription	Placenta	Placenta
36	chr7:127694400-127713600	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr7:127694400-127716800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr7:127694600-127703000	Weak transcription	Gastric	stomach
39	chr7:127694600-127707200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr7:127694600-127707400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
41	chr7:127694800-127717200	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr7:127695200-127718000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:127695400-127701200	Weak transcription	Fetal Kidney	kidney
44	chr7:127695800-127699400	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr7:127696000-127699600	Weak transcription	Primary monocytes fromperipheralblood	blood
46	chr7:127696000-127699600	Weak transcription	Placenta Amnion	Placenta Amnion
47	chr7:127696000-127700400	Strong transcription	Primary B cells from cord blood	blood
48	chr7:127696000-127700600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr7:127696000-127701200	Weak transcription	NHLF	lung
50	chr7:127696400-127699600	Weak transcription	Brain Anterior Caudate	brain

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