Variant report

Variant	rs9468334
Chromosome Location	chr6:28272948-28272949
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr6:28264442..28268560-chr6:28269964..28273646,5	K562	blood:
2	chr6:28217084..28219662-chr6:28271676..28274035,2	K562	blood:
3	chr6:28268157..28273166-chr6:28302896..28306229,5	K562	blood:
4	chr6:28271797..28274288-chr6:28283530..28286148,2	K562	blood:
5	chr6:28271633..28273346-chr6:28303958..28306016,2	MCF-7	breast:
6	chr6:28246460..28249146-chr6:28271252..28274232,2	K562	blood:
7	chr6:28271589..28273882-chr6:28298871..28300680,2	K562	blood:
8	chr6:28261083..28263249-chr6:28270818..28273469,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000235109	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs12000	0.81[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs12180820	0.89[ASN][1000 genomes]
rs1361386	0.89[ASN][1000 genomes]
rs1416920	0.89[ASN][1000 genomes]
rs16893947	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs16893970	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1936364	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs2108926	0.89[ASN][1000 genomes]
rs56152789	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6456815	0.89[ASN][1000 genomes]
rs6936644	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6942030	0.89[ASN][1000 genomes]
rs758398	0.80[ASN][1000 genomes]
rs9468344	0.89[ASN][1000 genomes]

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	nsv830620	chr6:28173997-28348033	Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Weak transcription ZNF genes & repeats Enhancers Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	51 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9468334	AL022393.7	cis	Thyroid	GTEx

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:28250000-28277600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr6:28250000-28293800	Weak transcription	Gastric	stomach
3	chr6:28250200-28273800	Weak transcription	Thymus	Thymus
4	chr6:28250400-28278600	Weak transcription	Duodenum Mucosa	Duodenum
5	chr6:28250600-28280600	Weak transcription	Rectal Smooth Muscle	rectum
6	chr6:28250800-28276800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr6:28251000-28273800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr6:28251000-28277200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr6:28251000-28278800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr6:28255200-28278600	Weak transcription	Esophagus	oesophagus
11	chr6:28255200-28278600	Weak transcription	Pancreas	Pancrea
12	chr6:28255200-28278800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
13	chr6:28255200-28283000	Weak transcription	HSMMtube	muscle
14	chr6:28255200-28293800	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr6:28255400-28278400	Weak transcription	HepG2	liver
16	chr6:28256400-28277800	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr6:28256600-28280800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr6:28257600-28278800	Weak transcription	NHDF-Ad	bronchial
19	chr6:28257800-28279000	Weak transcription	HMEC	breast
20	chr6:28258400-28273800	Weak transcription	Primary hematopoietic stem cells	blood
21	chr6:28258600-28273000	Weak transcription	Fetal Brain Male	brain
22	chr6:28264200-28273000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr6:28264200-28273000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr6:28264800-28274200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr6:28264800-28278600	Weak transcription	Fetal Intestine Small	intestine
26	chr6:28265000-28280600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr6:28265400-28278800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr6:28265600-28274000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
29	chr6:28266400-28278800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr6:28266800-28273400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr6:28268400-28280600	Weak transcription	Skeletal Muscle Male	skeletal muscle
32	chr6:28268800-28274400	Weak transcription	Fetal Stomach	stomach
33	chr6:28268800-28293400	Weak transcription	Colon Smooth Muscle	Colon
34	chr6:28269000-28274200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr6:28269200-28275000	Weak transcription	Lung	lung
36	chr6:28269200-28278600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr6:28269200-28291600	Weak transcription	Right Ventricle	heart
38	chr6:28269400-28273400	Weak transcription	Fetal Thymus	thymus
39	chr6:28269400-28275200	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr6:28269400-28278600	Weak transcription	Fetal Intestine Large	intestine
41	chr6:28269400-28280800	Weak transcription	H1 Cell Line	embryonic stem cell
42	chr6:28269600-28277400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr6:28269800-28273600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr6:28269800-28274400	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr6:28269800-28277400	Weak transcription	HUES64 Cell Line	embryonic stem cell
46	chr6:28269800-28280000	Weak transcription	Left Ventricle	heart
47	chr6:28270000-28273600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
48	chr6:28270000-28273800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr6:28270000-28274000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr6:28270000-28275600	Weak transcription	Adipose Nuclei	Adipose

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