Variant report

Variant	rs9484604
Chromosome Location	chr6:142470453-142470454
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	chr6:142468629..142470840-chr6:142474904..142476440,2	K562	blood:
2	chr6:142469818..142472806-chr6:142621459..142623184,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000112414	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs2232294	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2232299	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58223604	1.00[AMR][1000 genomes]
rs58545531	1.00[AMR][1000 genomes]
rs73572396	1.00[AMR][1000 genomes]
rs73572398	1.00[AMR][1000 genomes]
rs73573650	1.00[AMR][1000 genomes]
rs73573653	1.00[AMR][1000 genomes]
rs73573665	1.00[AMR][1000 genomes]
rs73573688	1.00[AMR][1000 genomes]
rs73574224	1.00[AMR][1000 genomes]
rs73574240	1.00[AMR][1000 genomes]
rs73576259	1.00[AMR][1000 genomes]
rs73578320	1.00[AMR][1000 genomes]
rs73578323	1.00[AMR][1000 genomes]
rs73579801	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581604	1.00[AMR][1000 genomes]
rs73581617	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73581623	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73587886	1.00[AMR][1000 genomes]
rs73588179	1.00[AMR][1000 genomes]
rs73590005	1.00[AMR][1000 genomes]
rs73590065	1.00[AMR][1000 genomes]
rs73590081	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv886732	chr6:142290338-142536049	Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv886733	chr6:142316672-142514226	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv886734	chr6:142347611-142523865	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv830824	chr6:142361107-142544929	Genic enhancers Strong transcription ZNF genes & repeats Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
5	nsv886735	chr6:142365171-142472294	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
6	nsv886736	chr6:142365171-142523865	Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142467600-142470800	Active TSS	GM12878-XiMat	blood
2	chr6:142468600-142470600	Flanking Active TSS	HUVEC	blood vessel
3	chr6:142468800-142470600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr6:142468800-142470600	Flanking Active TSS	Fetal Brain Female	brain
5	chr6:142468800-142472200	Weak transcription	Pancreas	Pancrea
6	chr6:142468800-142488000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr6:142469000-142470600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
8	chr6:142469000-142470600	Flanking Active TSS	Dnd41	blood
9	chr6:142469200-142470600	Enhancers	Sigmoid Colon	Sigmoid Colon
10	chr6:142469200-142470600	Enhancers	Small Intestine	intestine
11	chr6:142469200-142471000	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr6:142469200-142471000	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
13	chr6:142469200-142471600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr6:142469200-142477000	Weak transcription	Stomach Mucosa	stomach
15	chr6:142469200-142483400	Weak transcription	Aorta	Aorta
16	chr6:142469200-142487800	Weak transcription	Fetal Muscle Trunk	muscle
17	chr6:142469400-142470600	Enhancers	Primary hematopoietic stem cells	blood
18	chr6:142469400-142470800	Enhancers	Fetal Intestine Large	intestine
19	chr6:142469400-142471600	Enhancers	Primary T regulatory cells fromperipheralblood	blood
20	chr6:142469600-142470600	Enhancers	Primary B cells from cord blood	blood
21	chr6:142469600-142470600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr6:142469600-142470600	Enhancers	Brain Cingulate Gyrus	brain
23	chr6:142469600-142470800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr6:142469600-142470800	Enhancers	Brain Angular Gyrus	brain
25	chr6:142469600-142470800	Enhancers	Brain Anterior Caudate	brain
26	chr6:142469600-142470800	Enhancers	Brain Hippocampus Middle	brain
27	chr6:142469600-142471000	Enhancers	Primary T killer memory cells from peripheral blood	blood
28	chr6:142469600-142471000	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr6:142469600-142471600	Weak transcription	Left Ventricle	heart
30	chr6:142469600-142472200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr6:142469600-142487800	Weak transcription	Fetal Muscle Leg	muscle
32	chr6:142469600-142487800	Weak transcription	Thymus	Thymus
33	chr6:142469800-142470600	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
34	chr6:142469800-142470600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr6:142469800-142470600	Enhancers	Fetal Lung	lung
36	chr6:142469800-142470800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr6:142469800-142471000	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr6:142469800-142472600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
39	chr6:142469800-142481200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr6:142469800-142487600	Weak transcription	Primary neutrophils fromperipheralblood	blood
41	chr6:142470000-142470600	Genic enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr6:142470000-142470600	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr6:142470000-142470600	Active TSS	iPS-20b Cell Line	embryonic stem cell
44	chr6:142470000-142470600	Enhancers	Primary T helper naive cells from peripheral blood	blood
45	chr6:142470000-142470800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr6:142470000-142470800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr6:142470000-142470800	Transcr. at gene 5' and 3'	HepG2	liver
48	chr6:142470000-142471400	Weak transcription	Fetal Thymus	thymus
49	chr6:142470000-142472000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr6:142470000-142476600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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