Variant report

Variant	rs910419
Chromosome Location	chr6:144017250-144017251
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr6:144015602..144018341-chr6:144021601..144023244,2	K562	blood:
2	chr6:144004544..144009046-chr6:144017005..144020189,4	K562	blood:
3	chr6:144011351..144015622-chr6:144016784..144019989,3	K562	blood:

Extended variants
information (count: 60 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs11155318	0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11155320	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs11962519	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12530310	0.80[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13190772	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13191259	0.96[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.86[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13204954	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];0.96[TSI][hapmap];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs13220613	0.96[CEU][hapmap];0.86[CHB][hapmap];0.86[JPT][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2024693	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2051008	0.87[CHB][hapmap];0.87[JPT][hapmap];0.89[ASN][1000 genomes]
rs2092762	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2474150	0.86[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs3924968	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];0.85[MEX][hapmap];0.98[TSI][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4299843	0.86[CHB][hapmap]
rs4523103	1.00[CEU][hapmap];0.83[CHB][hapmap];0.89[EUR][1000 genomes]
rs6570571	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6570572	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6570573	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6913687	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6914940	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6916245	0.95[CHB][hapmap];0.91[CHD][hapmap];0.80[MEX][hapmap];0.85[TSI][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6931556	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7450663	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7738179	1.00[CEU][hapmap];0.94[CHB][hapmap];0.84[JPT][hapmap];0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7740883	0.87[CHB][hapmap];0.86[CHD][hapmap];0.84[ASN][1000 genomes]
rs7741628	0.91[CHB][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap]
rs7741901	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7741998	0.96[CEU][hapmap];0.85[MEX][hapmap];0.98[TSI][hapmap];0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs7747182	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7758298	1.00[CEU][hapmap];0.95[CHB][hapmap];0.82[JPT][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7760178	0.95[CHB][hapmap];0.93[CHD][hapmap];0.90[MEX][hapmap];0.81[TSI][hapmap];0.91[ASN][1000 genomes]
rs7762598	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7764549	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.90[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7766091	0.96[CEU][hapmap];0.91[CHB][hapmap];0.87[JPT][hapmap];0.83[AMR][1000 genomes];0.86[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7770812	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7771214	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap]
rs7772898	1.00[CEU][hapmap];0.95[CHB][hapmap];0.87[JPT][hapmap];0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7773502	1.00[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.86[JPT][hapmap];0.98[TSI][hapmap]
rs9321933	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9321934	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.95[MEX][hapmap];0.98[TSI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9376773	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9376774	0.91[CHB][hapmap];0.86[MEX][hapmap]
rs9376775	0.91[CHB][hapmap]
rs9376777	0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9390127	0.95[CHB][hapmap];0.82[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9399454	0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9399456	0.95[CHB][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9399459	0.91[CHB][hapmap];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9403520	0.89[CEU][hapmap];0.95[CHB][hapmap];0.88[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9403522	0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9484794	0.96[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9496718	0.96[CEU][hapmap];0.95[CHB][hapmap];0.93[CHD][hapmap];0.87[JPT][hapmap];0.91[TSI][hapmap];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9496721	1.00[CEU][hapmap];0.95[CHB][hapmap];0.86[JPT][hapmap];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9496729	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap];0.83[AMR][1000 genomes];0.93[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9496733	1.00[CEU][hapmap];0.95[CHB][hapmap];0.95[CHD][hapmap];0.87[JPT][hapmap];0.86[MEX][hapmap];0.98[TSI][hapmap]
rs9496734	0.95[CHB][hapmap];0.90[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs9496735	0.89[AMR][1000 genomes];0.82[EUR][1000 genomes];0.91[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:3)

SNP	Gene	Cis/trans	Tissue	Source
rs910419	STX11	cis	parietal	SCAN
rs910419	FBXO30	cis	parietal	SCAN
rs910419	AIG1	cis	parietal	SCAN

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr6:144005000-144020400	Weak transcription	Fetal Muscle Trunk	muscle
2	chr6:144006000-144017800	Weak transcription	Fetal Heart	heart
3	chr6:144010200-144019600	Weak transcription	Spleen	Spleen
4	chr6:144010400-144017800	Weak transcription	Ovary	ovary
5	chr6:144010400-144020000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr6:144011600-144053200	Weak transcription	Hela-S3	cervix
7	chr6:144011800-144017600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
8	chr6:144011800-144019600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr6:144011800-144019800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr6:144012200-144018600	Enhancers	Stomach Mucosa	stomach
11	chr6:144012200-144026800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr6:144012400-144018000	Enhancers	Fetal Stomach	stomach
13	chr6:144013200-144017600	Weak transcription	Osteobl	bone
14	chr6:144013400-144017800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr6:144013400-144017800	Weak transcription	NHDF-Ad	bronchial
16	chr6:144013800-144019200	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr6:144014000-144017800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr6:144014000-144019600	Weak transcription	Placenta	Placenta
19	chr6:144014200-144018200	Enhancers	Stomach Smooth Muscle	stomach
20	chr6:144014200-144019800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
21	chr6:144014200-144019800	Weak transcription	Right Atrium	heart
22	chr6:144014200-144027800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr6:144014200-144039800	Weak transcription	Pancreas	Pancrea
24	chr6:144014400-144019000	Enhancers	HepG2	liver
25	chr6:144014400-144022600	Weak transcription	Fetal Intestine Large	intestine
26	chr6:144014600-144020200	Enhancers	HUES48 Cell Line	embryonic stem cell
27	chr6:144014800-144017400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
28	chr6:144014800-144017400	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr6:144014800-144017400	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
30	chr6:144014800-144017800	Enhancers	HUVEC	blood vessel
31	chr6:144014800-144018000	Genic enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr6:144014800-144018200	Enhancers	HUES6 Cell Line	embryonic stem cell
33	chr6:144014800-144019000	Enhancers	HUES64 Cell Line	embryonic stem cell
34	chr6:144014800-144020800	Enhancers	iPS-20b Cell Line	embryonic stem cell
35	chr6:144015000-144018200	Enhancers	ES-I3 Cell Line	embryonic stem cell
36	chr6:144015000-144018200	Enhancers	Fetal Muscle Leg	muscle
37	chr6:144015000-144018400	Enhancers	Fetal Lung	lung
38	chr6:144015000-144019800	Enhancers	Colon Smooth Muscle	Colon
39	chr6:144015200-144018800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
40	chr6:144015400-144017800	Enhancers	K562	blood
41	chr6:144015400-144019800	Enhancers	Muscle Satellite Cultured Cells	--
42	chr6:144015400-144019800	Weak transcription	Gastric	stomach
43	chr6:144015400-144020000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr6:144015400-144020800	Weak transcription	Lung	lung
45	chr6:144015400-144034600	Weak transcription	Esophagus	oesophagus
46	chr6:144015600-144018200	Enhancers	Primary monocytes fromperipheralblood	blood
47	chr6:144015600-144018200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr6:144015600-144018200	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr6:144015800-144021800	Weak transcription	Rectal Smooth Muscle	rectum
50	chr6:144016000-144017400	Enhancers	Small Intestine	intestine

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