Variant report

Variant	rs720300
Chromosome Location	chr7:127607474-127607475
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	chr7:127599793..127602265-chr7:127606628..127609403,2	K562	blood:

Extended variants
information (count: 38 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:31)

rs_ID	r²[population]
rs10215276	0.92[EUR][1000 genomes]
rs10255861	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.95[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10260037	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.89[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];0.86[TSI][hapmap];0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1075206	0.87[AMR][1000 genomes];0.96[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1193334	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1193337	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1362267	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1362268	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes]
rs1362897	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1419969	0.84[EUR][1000 genomes]
rs17676908	0.92[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17676986	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17718395	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs17733988	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1833147	0.81[EUR][1000 genomes]
rs3757757	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3757767	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808057	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[TSI][hapmap];0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3808058	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.95[TSI][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3808073	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3808084	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3808087	0.89[EUR][1000 genomes]
rs3824000	1.00[CEU][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs6948493	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[MEX][hapmap];1.00[MKK][hapmap];0.95[TSI][hapmap];0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6963614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs717944	0.81[EUR][1000 genomes]
rs73238074	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs759056	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7786041	0.81[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs887745	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs917831	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv526535	chr7:127445594-127623840	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1024743	chr7:127498695-127670004	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
6	esv3340739	chr7:127602566-127607614	Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases
7	nsv526032	chr7:127607474-127616804	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription	Chromatin interactive region	n/a	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs720300	TPI1P2	cis	parietal	SCAN

Chromatin state (count:106 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127569800-127615600	Weak transcription	Colonic Mucosa	Colon
2	chr7:127570600-127615600	Weak transcription	Small Intestine	intestine
3	chr7:127570600-127615800	Weak transcription	Esophagus	oesophagus
4	chr7:127570600-127616400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
5	chr7:127570800-127618200	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr7:127571000-127615600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr7:127571000-127615800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:127571400-127617800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr7:127571600-127618000	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr7:127576400-127615800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr7:127578200-127616200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
12	chr7:127581200-127615400	Weak transcription	Gastric	stomach
13	chr7:127583200-127630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr7:127584600-127609000	Weak transcription	Pancreas	Pancrea
15	chr7:127584600-127612400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr7:127584600-127617800	Weak transcription	Hela-S3	cervix
17	chr7:127585200-127616400	Weak transcription	Thymus	Thymus
18	chr7:127585200-127616600	Weak transcription	A549	lung
19	chr7:127587400-127618000	Weak transcription	NHLF	lung
20	chr7:127587400-127635200	Weak transcription	NHDF-Ad	bronchial
21	chr7:127591600-127613600	Weak transcription	Fetal Brain Male	brain
22	chr7:127594000-127615600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
23	chr7:127594000-127623400	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr7:127594200-127608000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
25	chr7:127594400-127616800	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr7:127594400-127618000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
27	chr7:127594600-127608600	Weak transcription	Primary neutrophils fromperipheralblood	blood
28	chr7:127594600-127608800	Weak transcription	Fetal Kidney	kidney
29	chr7:127594600-127608800	Weak transcription	NH-A	brain
30	chr7:127594600-127618000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr7:127594800-127609800	Weak transcription	HUVEC	blood vessel
32	chr7:127595000-127613200	Weak transcription	Duodenum Smooth Muscle	Duodenum
33	chr7:127595600-127608000	Weak transcription	Brain Germinal Matrix	brain
34	chr7:127595600-127608800	Weak transcription	Right Atrium	heart
35	chr7:127596000-127613000	Weak transcription	Rectal Smooth Muscle	rectum
36	chr7:127596200-127608000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr7:127598800-127614800	Weak transcription	Fetal Stomach	stomach
38	chr7:127599000-127608600	Weak transcription	Osteobl	bone
39	chr7:127599400-127615200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr7:127599800-127615800	Weak transcription	Primary T cells fromperipheralblood	blood
41	chr7:127599800-127616400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr7:127600000-127617800	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr7:127600400-127608800	Weak transcription	Fetal Thymus	thymus
44	chr7:127600400-127611200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:127600400-127613000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
46	chr7:127600400-127615600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr7:127600400-127615600	Weak transcription	Duodenum Mucosa	Duodenum
48	chr7:127600400-127616400	Weak transcription	Primary monocytes fromperipheralblood	blood
49	chr7:127600400-127617800	Weak transcription	HUES6 Cell Line	embryonic stem cell
50	chr7:127600400-127617800	Weak transcription	Primary hematopoietic stem cells	blood

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