Variant report

Variant	rs9484795
Chromosome Location	chr6:144022040-144022041
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr6:144015602..144018341-chr6:144021601..144023244,2	K562	blood:
2	chr6:143993920..143996702-chr6:144021547..144023983,2	MCF-7	breast:

Extended variants
information (count: 21 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs11155311	0.89[JPT][hapmap]
rs12524982	1.00[JPT][hapmap]
rs12525281	1.00[CEU][hapmap];0.83[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs12525974	1.00[JPT][hapmap]
rs12527275	0.90[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs12528079	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12530178	0.89[CEU][hapmap];0.89[JPT][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs13191026	0.88[JPT][hapmap]
rs13192672	0.90[CEU][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs13213692	0.90[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13214196	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.84[EUR][1000 genomes]
rs1338535	0.89[JPT][hapmap]
rs17291151	1.00[JPT][hapmap]
rs1884172	0.90[CEU][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2051009	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[JPT][hapmap];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs6932482	0.90[CEU][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.84[EUR][1000 genomes]
rs9496738	0.84[EUR][1000 genomes]
rs9496740	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758084	chr6:143916621-144079976	Weak transcription Enhancers Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
2	esv2759476	chr6:143916621-144079976	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
3	nsv886737	chr6:144010570-144033992	Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Active TSS Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs9484795	AIG1	cis	parietal	SCAN

Chromatin state (count:80 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144011600-144053200	Weak transcription	Hela-S3	cervix
2	chr6:144012200-144026800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr6:144014200-144027800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
4	chr6:144014200-144039800	Weak transcription	Pancreas	Pancrea
5	chr6:144014400-144022600	Weak transcription	Fetal Intestine Large	intestine
6	chr6:144015400-144034600	Weak transcription	Esophagus	oesophagus
7	chr6:144016200-144023000	Enhancers	Adipose Nuclei	Adipose
8	chr6:144016200-144037200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr6:144016200-144038000	Weak transcription	NHEK	skin
10	chr6:144016600-144034000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr6:144016600-144034000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr6:144017000-144022200	Weak transcription	Brain Hippocampus Middle	brain
13	chr6:144017000-144023000	Weak transcription	Fetal Intestine Small	intestine
14	chr6:144017000-144023200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr6:144017000-144026800	Weak transcription	Duodenum Mucosa	Duodenum
16	chr6:144017000-144038200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
17	chr6:144017200-144044200	Weak transcription	Rectal Mucosa Donor 29	rectum
18	chr6:144017400-144034400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
19	chr6:144017600-144026800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
20	chr6:144017800-144047200	Weak transcription	K562	blood
21	chr6:144018000-144022200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr6:144018000-144030800	Weak transcription	Primary hematopoietic stem cells	blood
23	chr6:144018200-144023000	Weak transcription	Aorta	Aorta
24	chr6:144018200-144026800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr6:144018200-144044400	Weak transcription	H1 Cell Line	embryonic stem cell
26	chr6:144018600-144030600	Weak transcription	Pancreatic Islets	Pancreatic Islet
27	chr6:144019000-144022200	Enhancers	Skeletal Muscle Male	skeletal muscle
28	chr6:144019000-144028800	Weak transcription	HUES64 Cell Line	embryonic stem cell
29	chr6:144019200-144023200	Enhancers	HUVEC	blood vessel
30	chr6:144019200-144023800	Enhancers	Fetal Muscle Leg	muscle
31	chr6:144019400-144023800	Enhancers	Fetal Stomach	stomach
32	chr6:144019600-144023600	Enhancers	Ovary	ovary
33	chr6:144019800-144022200	Enhancers	Skeletal Muscle Female	skeletal muscle
34	chr6:144020200-144026800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr6:144020200-144034600	Weak transcription	Spleen	Spleen
36	chr6:144020400-144022200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr6:144020400-144023800	Enhancers	Duodenum Smooth Muscle	Duodenum
38	chr6:144020400-144030800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr6:144020800-144026600	Weak transcription	HepG2	liver
40	chr6:144021000-144026800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
41	chr6:144021200-144027200	Weak transcription	Gastric	stomach
42	chr6:144021600-144022800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr6:144021600-144022800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
44	chr6:144021600-144023200	Enhancers	Fetal Kidney	kidney
45	chr6:144021600-144030800	Weak transcription	Right Ventricle	heart
46	chr6:144021800-144022200	Enhancers	ES-I3 Cell Line	embryonic stem cell
47	chr6:144021800-144022200	Enhancers	H9 Cell Line	embryonic stem cell
48	chr6:144021800-144022200	Enhancers	HUES6 Cell Line	embryonic stem cell
49	chr6:144021800-144022200	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr6:144021800-144022200	Enhancers	iPS-20b Cell Line	embryonic stem cell

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