Variant report

Variant	rs16895123
Chromosome Location	chr6:163998017-163998018
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	chr6:163834016..163836871-chr6:163995838..163998585,2	K562	blood:

Variant related genes	Relation type
ENSG00000112531	Chromatin interaction
ENSG00000270419	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10484574	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12111344	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895038	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895059	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895075	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895088	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895103	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895119	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16895136	0.91[YRI][hapmap];0.83[AMR][1000 genomes]
rs3846779	0.85[AMR][1000 genomes]
rs6919442	0.85[AMR][1000 genomes]
rs6920226	1.00[AMR][1000 genomes]
rs7769044	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9689060	0.83[AMR][1000 genomes]
rs9689061	0.83[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1018860	chr6:163939347-164532579	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv538526	chr6:163939347-164532579	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
3	esv2758092	chr6:163992064-164161903	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
4	esv2759490	chr6:163992064-164161903	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:163970800-164000200	Weak transcription	Right Atrium	heart
2	chr6:163983000-163998400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr6:163984800-164000000	Weak transcription	Right Ventricle	heart
4	chr6:163985000-164006800	Weak transcription	Spleen	Spleen
5	chr6:163986600-164007000	Weak transcription	Aorta	Aorta
6	chr6:163987600-164007000	Weak transcription	Hela-S3	cervix
7	chr6:163987800-164000200	Weak transcription	Colon Smooth Muscle	Colon
8	chr6:163991200-164001800	Enhancers	iPS-15b Cell Line	embryonic stem cell
9	chr6:163991600-163998200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr6:163992000-164000000	Strong transcription	HSMM	muscle
11	chr6:163992000-164000600	Weak transcription	Fetal Kidney	kidney
12	chr6:163992200-164000000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr6:163992200-164000000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr6:163992200-164000200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
15	chr6:163992200-164000400	Weak transcription	Pancreas	Pancrea
16	chr6:163992200-164000600	Weak transcription	Fetal Stomach	stomach
17	chr6:163992200-164002000	Weak transcription	Ovary	ovary
18	chr6:163992200-164007200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr6:163992200-164007200	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr6:163992200-164009000	Weak transcription	GM12878-XiMat	blood
21	chr6:163992400-163998200	Weak transcription	Brain Germinal Matrix	brain
22	chr6:163992400-163999000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr6:163992400-163999200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr6:163992400-163999600	Weak transcription	HSMMtube	muscle
25	chr6:163992400-164000200	Weak transcription	Esophagus	oesophagus
26	chr6:163992400-164001800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
27	chr6:163992400-164005800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr6:163992400-164007000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr6:163992400-164007800	Weak transcription	Lung	lung
30	chr6:163993200-164000000	Weak transcription	NHEK	skin
31	chr6:163993200-164000200	Weak transcription	Primary B cells from cord blood	blood
32	chr6:163993200-164001200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr6:163993400-163999800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr6:163993600-164000200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr6:163993800-163998400	Enhancers	Brain Inferior Temporal Lobe	brain
36	chr6:163994000-164004800	Weak transcription	HepG2	liver
37	chr6:163994000-164007200	Weak transcription	NHLF	lung
38	chr6:163994200-163999000	Genic enhancers	K562	blood
39	chr6:163994200-164006400	Weak transcription	A549	lung
40	chr6:163994200-164006400	Weak transcription	HUVEC	blood vessel
41	chr6:163994400-164006600	Weak transcription	Muscle Satellite Cultured Cells	--
42	chr6:163994800-163998200	Genic enhancers	Cortex derived primary cultured neurospheres	brain
43	chr6:163995000-163998800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
44	chr6:163995200-164000000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr6:163995200-164007200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr6:163995400-163998200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
47	chr6:163995400-163998800	Strong transcription	Fetal Muscle Trunk	muscle
48	chr6:163995400-164000200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
49	chr6:163995600-163998200	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr6:163995600-164000200	Weak transcription	HMEC	breast

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