Variant report

Variant	rs6920862
Chromosome Location	chr6:35879621-35879622
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:35878893..35882071-chr6:35886005..35889723,3	MCF-7	breast:
2	chr6:35875936..35880955-chr6:35886036..35891109,7	MCF-7	breast:
3	chr6:35879384..35881046-chr6:35896780..35898741,2	K562	blood:
4	chr6:35873150..35876448-chr6:35878303..35882293,4	K562	blood:
5	chr6:35858887..35861466-chr6:35879366..35881952,2	K562	blood:

Variant related genes	Relation type
ENSG00000096063	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs10947574	0.80[EUR][1000 genomes]
rs10947576	0.81[EUR][1000 genomes]
rs1160827	0.81[EUR][1000 genomes]
rs12528878	0.80[EUR][1000 genomes]
rs1326752	0.80[EUR][1000 genomes]
rs17654270	0.80[EUR][1000 genomes]
rs2038961	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2148533	0.80[EUR][1000 genomes]
rs2250151	0.81[EUR][1000 genomes]
rs2301510	0.81[EUR][1000 genomes]
rs2395640	0.80[EUR][1000 genomes]
rs2766522	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2766527	0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs2766528	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2859420	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3761981	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3891863	0.80[EUR][1000 genomes]
rs3997732	0.81[EUR][1000 genomes]
rs4713929	0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs59190698	0.80[EUR][1000 genomes]
rs608267	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs612262	0.90[AFR][1000 genomes];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs638600	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs651158	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs6908433	0.81[EUR][1000 genomes]
rs6909895	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6911849	0.80[EUR][1000 genomes]
rs6916941	0.80[EUR][1000 genomes]
rs6920616	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6921531	0.81[EUR][1000 genomes]
rs6926156	0.80[EUR][1000 genomes]
rs6929493	0.81[EUR][1000 genomes]
rs6933241	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7755022	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7755600	0.81[EUR][1000 genomes]
rs879493	0.82[AMR][1000 genomes];0.95[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs879667	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs9462141	0.80[EUR][1000 genomes]
rs9462143	0.81[EUR][1000 genomes]
rs9462144	0.81[EUR][1000 genomes]
rs9470134	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9470140	0.80[EUR][1000 genomes]
rs9470141	0.80[EUR][1000 genomes]
rs9470142	0.80[EUR][1000 genomes]
rs9470144	0.80[EUR][1000 genomes]
rs9470147	0.80[EUR][1000 genomes]
rs9470152	0.80[EUR][1000 genomes]
rs9470153	0.80[EUR][1000 genomes]
rs9470154	0.80[EUR][1000 genomes]
rs9470155	0.81[EUR][1000 genomes]
rs9470156	0.81[EUR][1000 genomes]
rs9470157	0.81[EUR][1000 genomes]
rs9470161	0.81[EUR][1000 genomes]
rs9470162	0.81[EUR][1000 genomes]
rs9470166	0.81[EUR][1000 genomes]
rs9470167	0.81[EUR][1000 genomes]
rs9470169	0.81[EUR][1000 genomes]
rs9470171	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9470172	0.81[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3430300	chr6:35549151-35959004	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	esv3363467	chr6:35820920-36222197	Enhancers Strong transcription Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6920862	CDKN1A	cis	Esophagus Mucosa	GTEx

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:35825000-35885600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
2	chr6:35837400-35887000	Weak transcription	Psoas Muscle	Psoas
3	chr6:35837400-35887400	Weak transcription	Gastric	stomach
4	chr6:35837800-35880600	Weak transcription	Aorta	Aorta
5	chr6:35837800-35886800	Weak transcription	Stomach Smooth Muscle	stomach
6	chr6:35838600-35887400	Weak transcription	Small Intestine	intestine
7	chr6:35838800-35885000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr6:35849200-35885400	Weak transcription	NHDF-Ad	bronchial
9	chr6:35856600-35885400	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr6:35856800-35880400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr6:35856800-35885000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
12	chr6:35856800-35885400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr6:35858800-35880400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
14	chr6:35863600-35887000	Weak transcription	Pancreas	Pancrea
15	chr6:35868600-35886800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr6:35868600-35887000	Weak transcription	Skeletal Muscle Male	skeletal muscle
17	chr6:35872200-35886800	Weak transcription	HSMMtube	muscle
18	chr6:35873000-35880000	Weak transcription	Left Ventricle	heart
19	chr6:35874000-35887400	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr6:35874400-35881000	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr6:35874600-35887400	Weak transcription	Ovary	ovary
22	chr6:35875400-35881000	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr6:35875400-35885000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr6:35875600-35880000	Strong transcription	Rectal Mucosa Donor 31	rectum
25	chr6:35875600-35880200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr6:35875600-35880200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr6:35875600-35880400	ZNF genes & repeats	GM12878-XiMat	blood
28	chr6:35875600-35880600	ZNF genes & repeats	Primary hematopoietic stem cells	blood
29	chr6:35875600-35880800	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
30	chr6:35875600-35881200	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:35875600-35881400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
32	chr6:35875600-35883600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr6:35875800-35881400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
34	chr6:35876000-35880200	ZNF genes & repeats	ES-I3 Cell Line	embryonic stem cell
35	chr6:35876000-35880200	ZNF genes & repeats	Brain Germinal Matrix	brain
36	chr6:35876000-35880400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
37	chr6:35876000-35880400	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr6:35876000-35880400	ZNF genes & repeats	Fetal Brain Female	brain
39	chr6:35876200-35880000	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr6:35876400-35880000	ZNF genes & repeats	Fetal Intestine Small	intestine
41	chr6:35876400-35880200	ZNF genes & repeats	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr6:35876400-35881200	ZNF genes & repeats	Dnd41	blood
43	chr6:35876600-35880000	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
44	chr6:35876600-35880200	ZNF genes & repeats	Fetal Intestine Large	intestine
45	chr6:35877000-35881400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
46	chr6:35877200-35881400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:35877200-35886800	Weak transcription	Rectal Smooth Muscle	rectum
48	chr6:35877400-35879800	ZNF genes & repeats	Fetal Lung	lung
49	chr6:35877400-35881000	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr6:35877400-35886800	Weak transcription	Colonic Mucosa	Colon

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