Variant report

Variant	rs12110648
Chromosome Location	chr6:163818439-163818440
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	chr6:163812076..163814211-chr6:163817501..163820074,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs56377162	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6934643	1.00[AMR][1000 genomes]
rs6939555	0.82[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6939751	1.00[AMR][1000 genomes]
rs73784468	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73784479	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73787632	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7742678	1.00[AMR][1000 genomes]
rs7753923	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7765302	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9784871	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv932127	chr6:163000261-163950870	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv534621	chr6:163731741-163950870	Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv1791729	chr6:163814557-163836689	Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:71 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163809800-163819800	Weak transcription	Spleen	Spleen
2	chr6:163809800-163825600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr6:163815000-163818600	Enhancers	Fetal Heart	heart
4	chr6:163815200-163819400	Weak transcription	HSMMtube	muscle
5	chr6:163816600-163820200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr6:163817400-163818600	Active TSS	Fetal Brain Female	brain
7	chr6:163817600-163818600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr6:163817600-163818600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
9	chr6:163817600-163818800	Flanking Active TSS	Brain Hippocampus Middle	brain
10	chr6:163817800-163818600	Active TSS	Brain Inferior Temporal Lobe	brain
11	chr6:163818000-163819400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr6:163818000-163819800	Weak transcription	Placenta	Placenta
13	chr6:163818000-163822200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
14	chr6:163818000-163822200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr6:163818000-163822600	Weak transcription	H9 Cell Line	embryonic stem cell
16	chr6:163818000-163826800	Weak transcription	Gastric	stomach
17	chr6:163818200-163818600	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
18	chr6:163818200-163818600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
19	chr6:163818200-163818600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
20	chr6:163818200-163818600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
21	chr6:163818200-163818600	Enhancers	Breast Myoepithelial Primary Cells	Breast
22	chr6:163818200-163818600	Flanking Active TSS	Brain Germinal Matrix	brain
23	chr6:163818200-163818600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
24	chr6:163818200-163818600	Enhancers	Fetal Brain Male	brain
25	chr6:163818200-163818600	Enhancers	HSMM	muscle
26	chr6:163818200-163818600	Enhancers	HUVEC	blood vessel
27	chr6:163818200-163818600	Enhancers	NHDF-Ad	bronchial
28	chr6:163818200-163818600	Enhancers	Osteobl	bone
29	chr6:163818200-163818800	Enhancers	H1 Cell Line	embryonic stem cell
30	chr6:163818200-163818800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr6:163818200-163818800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
32	chr6:163818200-163818800	Enhancers	Fetal Lung	lung
33	chr6:163818200-163818800	Enhancers	Fetal Muscle Leg	muscle
34	chr6:163818200-163818800	Enhancers	Fetal Stomach	stomach
35	chr6:163818200-163819000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:163818200-163819200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
37	chr6:163818200-163819600	Weak transcription	Primary neutrophils fromperipheralblood	blood
38	chr6:163818200-163819600	Enhancers	NH-A	brain
39	chr6:163818200-163819800	Weak transcription	Fetal Muscle Trunk	muscle
40	chr6:163818200-163819800	Weak transcription	Ovary	ovary
41	chr6:163818200-163819800	Weak transcription	Skeletal Muscle Male	skeletal muscle
42	chr6:163818200-163820000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
43	chr6:163818200-163820000	Weak transcription	Fetal Kidney	kidney
44	chr6:163818200-163820400	Enhancers	Brain Cingulate Gyrus	brain
45	chr6:163818200-163821000	Weak transcription	Esophagus	oesophagus
46	chr6:163818200-163822000	Enhancers	Adipose Nuclei	Adipose
47	chr6:163818200-163825600	Weak transcription	Lung	lung
48	chr6:163818200-163826200	Weak transcription	Duodenum Mucosa	Duodenum
49	chr6:163818200-163826800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr6:163818400-163818600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell

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