Variant report

Variant	rs9399394
Chromosome Location	chr6:142469649-142469650
allele	A/G
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:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs4896580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6570497	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9376675	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9399395	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.90[ASN][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:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:142467600-142469800	Active TSS	Fetal Kidney	kidney
2	chr6:142467600-142470200	Active TSS	Right Atrium	heart
3	chr6:142467600-142470800	Active TSS	GM12878-XiMat	blood
4	chr6:142467800-142470000	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr6:142467800-142470400	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr6:142467800-142470400	Active TSS	iPS-15b Cell Line	embryonic stem cell
7	chr6:142467800-142470400	Active TSS	A549	lung
8	chr6:142468000-142469800	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
9	chr6:142468000-142470000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
10	chr6:142468600-142469800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
11	chr6:142468600-142469800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
12	chr6:142468600-142470000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr6:142468600-142470400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
14	chr6:142468600-142470400	Flanking Active TSS	Liver	Liver
15	chr6:142468600-142470600	Flanking Active TSS	HUVEC	blood vessel
16	chr6:142468800-142469800	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
17	chr6:142468800-142469800	Flanking Active TSS	Adipose Nuclei	Adipose
18	chr6:142468800-142470200	Flanking Active TSS	Duodenum Mucosa	Duodenum
19	chr6:142468800-142470600	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr6:142468800-142470600	Flanking Active TSS	Fetal Brain Female	brain
21	chr6:142468800-142472200	Weak transcription	Pancreas	Pancrea
22	chr6:142468800-142488000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr6:142469000-142469800	Flanking Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
24	chr6:142469000-142469800	Enhancers	Primary neutrophils fromperipheralblood	blood
25	chr6:142469000-142469800	Flanking Active TSS	Fetal Lung	lung
26	chr6:142469000-142469800	Flanking Active TSS	Osteobl	bone
27	chr6:142469000-142470000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:142469000-142470000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
29	chr6:142469000-142470200	Flanking Active TSS	NHEK	skin
30	chr6:142469000-142470600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr6:142469000-142470600	Flanking Active TSS	Dnd41	blood
32	chr6:142469200-142469800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr6:142469200-142469800	Enhancers	Fetal Heart	heart
34	chr6:142469200-142469800	Enhancers	Placenta Amnion	Placenta Amnion
35	chr6:142469200-142470000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
36	chr6:142469200-142470000	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
37	chr6:142469200-142470000	Enhancers	Gastric	stomach
38	chr6:142469200-142470000	Flanking Active TSS	HMEC	breast
39	chr6:142469200-142470000	Flanking Active TSS	NH-A	brain
40	chr6:142469200-142470200	Enhancers	Primary T cells fromperipheralblood	blood
41	chr6:142469200-142470200	Flanking Active TSS	Muscle Satellite Cultured Cells	--
42	chr6:142469200-142470200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
43	chr6:142469200-142470200	Flanking Active TSS	NHDF-Ad	bronchial
44	chr6:142469200-142470400	Enhancers	Primary monocytes fromperipheralblood	blood
45	chr6:142469200-142470400	Enhancers	Primary B cells from peripheral blood	blood
46	chr6:142469200-142470400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
47	chr6:142469200-142470400	Enhancers	Brain Substantia Nigra	brain
48	chr6:142469200-142470400	Flanking Active TSS	Fetal Brain Male	brain
49	chr6:142469200-142470600	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr6:142469200-142470600	Enhancers	Small Intestine	intestine

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