Variant report

Variant	rs1348103
Chromosome Location	chr7:127391852-127391853
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127382791..127385183-chr7:127391809..127394615,2	K562	blood:
2	chr7:127381539..127384291-chr7:127391667..127394615,2	K562	blood:
3	chr7:127386857..127389329-chr7:127391542..127393084,2	MCF-7	breast:
4	chr7:127389289..127393193-chr7:127394963..127397566,4	K562	blood:
5	chr7:127390567..127392774-chr7:127400064..127401967,2	MCF-7	breast:
6	chr7:127390841..127392796-chr7:127409472..127412228,2	K562	blood:

Extended variants
information (count: 62 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10487499	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487502	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12154492	1.00[CEU][hapmap];1.00[CHB][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12375023	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12531847	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12532894	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12534918	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12540357	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706816	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706818	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706819	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs12706820	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706821	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];0.86[MEX][hapmap];0.97[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706822	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12706823	0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13221709	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13227201	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13229973	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13231367	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13236338	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13238924	1.00[CEU][hapmap];1.00[CHB][hapmap];0.86[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246200	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13246286	1.00[CEU][hapmap];1.00[CHB][hapmap];0.84[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1345283	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419970	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468701	0.92[EUR][1000 genomes]
rs17151466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151488	1.00[CEU][hapmap];1.00[CHB][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151507	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.91[MKK][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17151639	0.81[EUR][1000 genomes]
rs17151653	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17676654	1.00[ASN][1000 genomes]
rs327508	1.00[ASN][1000 genomes]
rs34026100	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34688920	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34839191	0.89[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35154268	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35660964	0.93[AFR][1000 genomes];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41464647	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap]
rs55660321	0.84[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58406876	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67632185	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67827668	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6948605	0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6959487	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232968	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73232972	1.00[ASN][1000 genomes]
rs73234873	0.81[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73234874	0.87[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs741094	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[MEX][hapmap];0.97[TSI][hapmap];0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7458839	0.92[EUR][1000 genomes]
rs7785596	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7809182	1.00[CEU][hapmap];0.85[GIH][hapmap];0.92[TSI][hapmap];0.92[EUR][1000 genomes]
rs7810024	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs894062	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649027	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9649512	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1022385	chr7:127246656-127971194	Weak transcription Bivalent Enhancer Enhancers Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
2	nsv539120	chr7:127246656-127971194	Enhancers Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv1016143	chr7:127251359-127726762	Strong transcription Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
4	nsv831123	chr7:127289511-127510396	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
5	nsv1030387	chr7:127348973-127455890	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs1348103	SND1	cis	Artery Tibial	GTEx

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127362600-127400000	Weak transcription	Small Intestine	intestine
2	chr7:127372200-127395600	Weak transcription	Thymus	Thymus
3	chr7:127372600-127394600	Weak transcription	Ovary	ovary
4	chr7:127373200-127410000	Weak transcription	Stomach Smooth Muscle	stomach
5	chr7:127374800-127392200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr7:127375200-127395800	Weak transcription	Primary T helper cells fromperipheralblood	blood
7	chr7:127375400-127417400	Weak transcription	Rectal Mucosa Donor 31	rectum
8	chr7:127375600-127401000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr7:127376800-127409200	Weak transcription	HUVEC	blood vessel
10	chr7:127377000-127409200	Weak transcription	NHLF	lung
11	chr7:127378200-127412200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:127378800-127401200	Weak transcription	Placenta	Placenta
13	chr7:127379200-127437400	Weak transcription	Fetal Stomach	stomach
14	chr7:127380000-127409200	Weak transcription	Aorta	Aorta
15	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
16	chr7:127382200-127394600	Weak transcription	Spleen	Spleen
17	chr7:127382800-127392600	Strong transcription	K562	blood
18	chr7:127383000-127394600	Weak transcription	Right Atrium	heart
19	chr7:127383600-127393200	Strong transcription	GM12878-XiMat	blood
20	chr7:127384800-127392200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr7:127386600-127399800	Weak transcription	Fetal Intestine Large	intestine
22	chr7:127387000-127395000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr7:127387800-127392000	Strong transcription	HepG2	liver
24	chr7:127388400-127394400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr7:127388400-127394600	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr7:127388400-127406200	Weak transcription	Primary B cells from cord blood	blood
27	chr7:127388600-127393600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:127388600-127407000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
29	chr7:127388600-127407000	Weak transcription	Dnd41	blood
30	chr7:127389000-127394400	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:127389000-127394400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
32	chr7:127389000-127394600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr7:127389000-127406000	Weak transcription	NHEK	skin
34	chr7:127389200-127395000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr7:127389800-127393000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr7:127390000-127395800	Weak transcription	Primary hematopoietic stem cells	blood
37	chr7:127390000-127399800	Weak transcription	Duodenum Mucosa	Duodenum
38	chr7:127390200-127394600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:127390200-127395800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:127390200-127400000	Weak transcription	Fetal Intestine Small	intestine
41	chr7:127390200-127407200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr7:127390400-127393000	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr7:127390400-127395000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
44	chr7:127390400-127403000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
45	chr7:127390600-127397800	Weak transcription	A549	lung
46	chr7:127390800-127392200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr7:127390800-127392400	Enhancers	HSMM	muscle
48	chr7:127390800-127392400	Enhancers	Osteobl	bone
49	chr7:127390800-127393200	Enhancers	Primary T killer memory cells from peripheral blood	blood
50	chr7:127390800-127395600	Enhancers	Liver	Liver

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