Variant report

Variant	rs1204199
Chromosome Location	chr6:13860126-13860127
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:13852875..13854622-chr6:13856529..13860893,3	K562	blood:
2	chr6:13847132..13848813-chr6:13858201..13861162,2	K562	blood:
3	chr6:13852875..13856749-chr6:13858134..13861261,5	K562	blood:

Extended variants
information (count: 46 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:44)

rs_ID	r²[population]
rs1204166	1.00[ASN][1000 genomes]
rs1204177	1.00[ASN][1000 genomes]
rs1204182	1.00[ASN][1000 genomes]
rs1204183	1.00[ASN][1000 genomes]
rs1204190	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204198	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204200	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204201	0.97[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204203	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204204	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204206	0.96[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204212	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204215	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204220	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204223	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204231	0.81[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1204245	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204247	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204248	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204249	0.88[EUR][1000 genomes]
rs1204251	0.88[EUR][1000 genomes]
rs1204253	0.83[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204255	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204256	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204257	0.82[AFR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204258	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204259	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204260	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204261	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1204262	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1308729	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1308730	0.98[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16874389	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56042707	1.00[ASN][1000 genomes]
rs59038247	0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6459172	0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914225	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6914405	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6937431	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs723584	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73723776	1.00[ASN][1000 genomes]
rs73726011	1.00[ASN][1000 genomes]
rs73726013	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73726014	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];1.00[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	esv3475107	chr6:13834840-13863839	Bivalent Enhancer Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
2	esv3475109	chr6:13835023-13863759	Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:13847800-13864000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr6:13859800-13860600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
3	chr6:13859800-13860800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr6:13859800-13861000	Active TSS	ES-I3 Cell Line	embryonic stem cell
5	chr6:13859800-13861000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
6	chr6:13860000-13860200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr6:13860000-13860200	Flanking Bivalent TSS/Enh	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr6:13860000-13860200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
9	chr6:13860000-13860200	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
10	chr6:13860000-13860200	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr6:13860000-13860200	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
12	chr6:13860000-13860200	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells	blood
13	chr6:13860000-13860200	Active TSS	Primary hematopoietic stem cells short term culture	blood
14	chr6:13860000-13860200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
15	chr6:13860000-13860200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
16	chr6:13860000-13860200	Bivalent Enhancer	Primary T helper 17 cells PMA-I stimulated	--
17	chr6:13860000-13860200	Bivalent/Poised TSS	Primary T helper cells fromperipheralblood	blood
18	chr6:13860000-13860200	Flanking Bivalent TSS/Enh	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr6:13860000-13860200	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr6:13860000-13860200	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr6:13860000-13860200	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr6:13860000-13860200	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr6:13860000-13860200	Flanking Bivalent TSS/Enh	Brain Hippocampus Middle	brain
24	chr6:13860000-13860200	Flanking Bivalent TSS/Enh	Brain Inferior Temporal Lobe	brain
25	chr6:13860000-13860200	Bivalent Enhancer	Brain Substantia Nigra	brain
26	chr6:13860000-13860200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
27	chr6:13860000-13860200	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
28	chr6:13860000-13860200	Flanking Bivalent TSS/Enh	Fetal Brain Male	brain
29	chr6:13860000-13860200	Flanking Bivalent TSS/Enh	Fetal Intestine Large	intestine
30	chr6:13860000-13860200	Bivalent/Poised TSS	Fetal Kidney	kidney
31	chr6:13860000-13860200	Bivalent Enhancer	Left Ventricle	heart
32	chr6:13860000-13860200	Bivalent Enhancer	Ovary	ovary
33	chr6:13860000-13860200	Enhancers	Pancreas	Pancrea
34	chr6:13860000-13860200	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
35	chr6:13860000-13860200	Flanking Active TSS	Right Ventricle	heart
36	chr6:13860000-13860200	Bivalent Enhancer	Small Intestine	intestine
37	chr6:13860000-13860200	Bivalent Enhancer	Stomach Mucosa	stomach
38	chr6:13860000-13860200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
39	chr6:13860000-13860200	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
40	chr6:13860000-13860200	Flanking Bivalent TSS/Enh	NHEK	skin
41	chr6:13860000-13860400	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr6:13860000-13860400	Bivalent Enhancer	Breast Myoepithelial Primary Cells	Breast
43	chr6:13860000-13860400	Bivalent/Poised TSS	Muscle Satellite Cultured Cells	--
44	chr6:13860000-13860400	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
45	chr6:13860000-13860400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr6:13860000-13860400	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr6:13860000-13860400	Flanking Active TSS	Brain Angular Gyrus	brain
48	chr6:13860000-13860400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
49	chr6:13860000-13860400	Bivalent Enhancer	Colon Smooth Muscle	Colon
50	chr6:13860000-13860400	Bivalent Enhancer	Fetal Lung	lung

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