Variant report

Variant	rs997137
Chromosome Location	chr6:11814516-11814517
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:11810352..11813130-chr6:11814458..11816806,2	K562	blood:
2	chr6:11809930..11813130-chr6:11813713..11816806,3	K562	blood:

Variant related genes	Relation type
ENSG00000234427	Chromatin interaction

Extended variants
information (count: 42 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs1033423	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1033424	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs28360633	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457867	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457868	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6457869	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6912358	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6915289	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs724821	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73364036	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7739436	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7740866	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7743280	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744077	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7744396	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7746016	0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7747022	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7757263	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7758760	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7760480	0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7763212	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7775964	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296170	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296171	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296172	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9296173	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470112	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470132	0.91[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470168	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470174	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470176	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470198	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470201	0.83[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470202	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9470203	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470209	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9470211	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9470212	0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9470213	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs9470214	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][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	esv2758036	chr6:11679753-11822351	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS 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 lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759407	chr6:11679753-11822351	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:36 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:11807600-11816400	Enhancers	Breast Myoepithelial Primary Cells	Breast
2	chr6:11810800-11814800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
3	chr6:11810800-11815000	Weak transcription	NHEK	skin
4	chr6:11810800-11815200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr6:11810800-11815400	Weak transcription	Fetal Stomach	stomach
6	chr6:11810800-11815600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
7	chr6:11811200-11815000	Weak transcription	HMEC	breast
8	chr6:11811200-11815200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr6:11811200-11815400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr6:11811200-11815400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
11	chr6:11811200-11815400	Weak transcription	Pancreas	Pancrea
12	chr6:11811200-11815400	Weak transcription	NH-A	brain
13	chr6:11811200-11815400	Weak transcription	NHDF-Ad	bronchial
14	chr6:11811400-11815200	Weak transcription	Muscle Satellite Cultured Cells	--
15	chr6:11811400-11815200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr6:11811400-11815400	Weak transcription	HSMM	muscle
17	chr6:11811600-11815400	Weak transcription	Osteobl	bone
18	chr6:11812000-11815800	Enhancers	GM12878-XiMat	blood
19	chr6:11812800-11814600	Enhancers	Fetal Muscle Leg	muscle
20	chr6:11813000-11814600	Enhancers	Stomach Smooth Muscle	stomach
21	chr6:11813000-11815200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr6:11813400-11816400	Enhancers	Fetal Intestine Large	intestine
23	chr6:11813600-11815000	Weak transcription	HSMMtube	muscle
24	chr6:11813800-11815400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr6:11814000-11815000	Enhancers	Adipose Nuclei	Adipose
26	chr6:11814000-11816400	Enhancers	Fetal Intestine Small	intestine
27	chr6:11814200-11815200	Weak transcription	Hela-S3	cervix
28	chr6:11814200-11816400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr6:11814400-11814800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
30	chr6:11814400-11814800	Enhancers	Fetal Brain Male	brain
31	chr6:11814400-11814800	Enhancers	Sigmoid Colon	Sigmoid Colon
32	chr6:11814400-11815000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr6:11814400-11815000	Enhancers	Fetal Thymus	thymus
34	chr6:11814400-11815000	Enhancers	Stomach Mucosa	stomach
35	chr6:11814400-11815000	Enhancers	A549	lung
36	chr6:11814400-11815800	Enhancers	Duodenum Mucosa	Duodenum

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