Variant report

Variant	rs17733988
Chromosome Location	chr7:127657793-127657794
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127657760..127658313-chr7:127849422..127849977,2	MCF-7	breast:
2	chr7:127657571..127659586-chr7:127661972..127664018,2	K562	blood:
3	chr7:127648714..127651621-chr7:127657028..127659226,2	MCF-7	breast:
4	chr7:127646218..127648423-chr7:127655785..127658353,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10215276	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs10255861	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs10260037	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.93[MEX][hapmap];1.00[MKK][hapmap];0.91[TSI][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1075206	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1193334	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1193337	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1362267	0.89[AMR][1000 genomes];0.91[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1362268	1.00[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs1362897	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.93[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1419969	0.85[EUR][1000 genomes]
rs17676908	0.87[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17676986	1.00[ASW][hapmap];0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.88[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1833147	0.82[EUR][1000 genomes]
rs3757757	0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3757767	0.81[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3808057	1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.94[MEX][hapmap];0.87[TSI][hapmap];0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3808058	1.00[ASW][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.85[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];0.96[MKK][hapmap];1.00[TSI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3808073	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3808084	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs3808087	0.90[EUR][1000 genomes]
rs3824000	1.00[CEU][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6948493	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.96[GIH][hapmap];1.00[JPT][hapmap];0.93[MEX][hapmap];1.00[TSI][hapmap];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6963614	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs717944	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs720300	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73238074	0.93[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs759056	0.93[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7786041	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs887745	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs917831	0.93[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17733988	TPI1P2	cis	parietal	SCAN

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127631800-127660800	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr7:127634200-127657800	Weak transcription	NH-A	brain
3	chr7:127635600-127660600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
4	chr7:127635800-127660600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:127636000-127662400	Weak transcription	NHDF-Ad	bronchial
6	chr7:127637000-127658800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr7:127641400-127657800	Weak transcription	Osteobl	bone
8	chr7:127641600-127657800	Weak transcription	HSMMtube	muscle
9	chr7:127641600-127670400	Weak transcription	Colonic Mucosa	Colon
10	chr7:127644000-127660200	Weak transcription	Rectal Mucosa Donor 29	rectum
11	chr7:127644000-127668800	Weak transcription	Dnd41	blood
12	chr7:127644000-127670200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
13	chr7:127644800-127667400	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr7:127644800-127670800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr7:127645000-127684000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr7:127645200-127661800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr7:127645400-127670000	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr7:127646000-127660400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:127647600-127657800	Weak transcription	Muscle Satellite Cultured Cells	--
20	chr7:127648400-127657800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:127650000-127659800	Strong transcription	K562	blood
22	chr7:127651600-127659800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
23	chr7:127651800-127659600	Strong transcription	HepG2	liver
24	chr7:127651800-127660600	Weak transcription	Left Ventricle	heart
25	chr7:127651800-127661600	Strong transcription	Fetal Intestine Small	intestine
26	chr7:127651800-127664400	Weak transcription	Right Ventricle	heart
27	chr7:127651800-127665600	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr7:127651800-127667600	Weak transcription	Colon Smooth Muscle	Colon
29	chr7:127651800-127668800	Weak transcription	Ovary	ovary
30	chr7:127651800-127670600	Weak transcription	Rectal Smooth Muscle	rectum
31	chr7:127652000-127660600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:127652600-127657800	Weak transcription	Brain Substantia Nigra	brain
33	chr7:127652600-127659000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:127653000-127657800	Weak transcription	HUES64 Cell Line	embryonic stem cell
35	chr7:127653000-127658000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr7:127653000-127658000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
37	chr7:127653000-127658600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
38	chr7:127653000-127658600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr7:127653000-127661000	Weak transcription	A549	lung
40	chr7:127653200-127657800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:127653200-127658800	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr7:127653200-127659000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
43	chr7:127653200-127668800	Weak transcription	Thymus	Thymus
44	chr7:127653400-127661200	Weak transcription	NHLF	lung
45	chr7:127653400-127662400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr7:127653600-127660600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:127654400-127657800	Weak transcription	HSMM	muscle
48	chr7:127654600-127657800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
49	chr7:127654600-127660600	Weak transcription	Primary T helper cells PMA-I stimulated	--
50	chr7:127654600-127669200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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