Variant report

Variant	rs16835169
Chromosome Location	chr1:193123635-193123636
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:193120746..193123681-chr1:193128026..193129630,2	K562	blood:
2	chr1:193100219..193102936-chr1:193122822..193124553,2	K562	blood:
3	chr1:193121417..193124500-chr1:193124689..193128530,4	K562	blood:
4	chr1:193121828..193124500-chr1:193124942..193127675,2	K562	blood:
5	chr1:193089839..193091637-chr1:193123066..193124598,2	K562	blood:

Variant related genes	Relation type
ENSG00000134371	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs1536100	1.00[YRI][hapmap]
rs16835204	1.00[YRI][hapmap]
rs56067713	0.83[AMR][1000 genomes]
rs58056953	0.83[AMR][1000 genomes]
rs6665739	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6665751	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6682435	0.83[AMR][1000 genomes]
rs6683844	0.83[AMR][1000 genomes]
rs74130919	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs74130920	0.83[AMR][1000 genomes]
rs74130921	0.83[AMR][1000 genomes]
rs74130922	0.83[AMR][1000 genomes]
rs74130925	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74130927	0.83[AMR][1000 genomes]
rs74130929	1.00[AMR][1000 genomes]
rs74130930	1.00[AMR][1000 genomes]
rs7518409	1.00[YRI][hapmap]
rs7522932	0.86[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532618	chr1:192537006-193149179	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	70 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:193092600-193141600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:193093800-193125000	Weak transcription	Stomach Mucosa	stomach
3	chr1:193093800-193126400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:193094800-193155000	Weak transcription	Aorta	Aorta
5	chr1:193095000-193124400	Strong transcription	Dnd41	blood
6	chr1:193097400-193126800	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr1:193101000-193140000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr1:193101400-193130000	Weak transcription	Colonic Mucosa	Colon
9	chr1:193101600-193124800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr1:193104200-193126200	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr1:193104200-193135000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:193104400-193124000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr1:193106000-193140800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr1:193109600-193126200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:193109600-193128200	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:193109800-193125800	Weak transcription	Gastric	stomach
17	chr1:193109800-193126200	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr1:193110000-193139600	Weak transcription	Esophagus	oesophagus
19	chr1:193110000-193149400	Weak transcription	Right Ventricle	heart
20	chr1:193110000-193155200	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr1:193110200-193125800	Strong transcription	HUES48 Cell Line	embryonic stem cell
22	chr1:193111600-193137600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
23	chr1:193111800-193123800	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr1:193112000-193124000	Strong transcription	Primary T helper cells PMA-I stimulated	--
25	chr1:193112000-193125200	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr1:193112200-193126600	Weak transcription	Brain Angular Gyrus	brain
27	chr1:193113400-193124200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr1:193113400-193125800	Strong transcription	Primary B cells from cord blood	blood
29	chr1:193113600-193124000	Strong transcription	Primary T cells fromperipheralblood	blood
30	chr1:193113600-193124200	Strong transcription	Primary B cells from peripheral blood	blood
31	chr1:193113600-193124200	Strong transcription	GM12878-XiMat	blood
32	chr1:193113600-193124800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr1:193113600-193126800	Strong transcription	K562	blood
34	chr1:193113800-193123800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
35	chr1:193113800-193123800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr1:193114000-193124400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr1:193114000-193124400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
38	chr1:193114000-193126800	Strong transcription	Fetal Thymus	thymus
39	chr1:193114200-193124000	Strong transcription	Liver	Liver
40	chr1:193114200-193126400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:193114400-193123800	Strong transcription	Rectal Mucosa Donor 29	rectum
42	chr1:193114400-193124000	Strong transcription	Rectal Mucosa Donor 31	rectum
43	chr1:193114400-193124200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:193114400-193124200	Strong transcription	Adipose Nuclei	Adipose
45	chr1:193114400-193126800	Strong transcription	HUVEC	blood vessel
46	chr1:193114800-193123800	Strong transcription	HUES6 Cell Line	embryonic stem cell
47	chr1:193114800-193124800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:193115000-193123800	Strong transcription	Osteobl	bone
49	chr1:193115400-193124000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
50	chr1:193115400-193126800	Strong transcription	HSMM	muscle

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