Variant report

Variant	rs325448
Chromosome Location	chr7:127470112-127470113
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127465972..127469010-chr7:127469751..127472262,3	K562	blood:
2	chr7:127467513..127471385-chr7:127477600..127480092,3	K562	blood:
3	chr7:127467741..127471217-chr7:127476895..127480654,3	K562	blood:
4	chr7:127461577..127463723-chr7:127469665..127472134,2	K562	blood:

Extended variants
information (count: 90 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs1019578	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10228031	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10229187	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs1025075	0.97[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10487503	1.00[EUR][1000 genomes]
rs1073155	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[ASN][1000 genomes]
rs12536253	1.00[JPT][hapmap]
rs1440973	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1468701	0.85[ASN][1000 genomes]
rs1468702	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17133046	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151515	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17151567	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs17151575	1.00[EUR][1000 genomes]
rs17151629	1.00[EUR][1000 genomes]
rs17151639	1.00[JPT][hapmap]
rs17151650	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs1833146	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1966517	0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2402873	1.00[JPT][hapmap]
rs2582716	0.83[ASN][1000 genomes]
rs325438	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325439	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325443	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325449	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs325450	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3757772	1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[AMR][1000 genomes]
rs4728078	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4728082	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs4731379	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731382	0.97[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731383	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731384	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4731390	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs4731391	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs61743021	1.00[EUR][1000 genomes]
rs6467142	0.91[AFR][1000 genomes];0.82[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467146	0.92[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467147	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467149	0.99[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6467150	0.96[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467151	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6467154	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs6946590	1.00[EUR][1000 genomes]
rs6950211	0.95[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6952123	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6952734	1.00[EUR][1000 genomes]
rs6953530	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6964714	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6972398	0.83[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs6975274	1.00[EUR][1000 genomes]
rs6976145	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6979918	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs698407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs698409	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs712706	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712708	1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes]
rs712709	0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs712710	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.84[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs712711	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712713	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[YRI][hapmap];0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712717	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs712720	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.87[AFR][1000 genomes];0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73721253	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73721258	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs73721261	1.00[EUR][1000 genomes]
rs73721264	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7458839	0.89[ASN][1000 genomes]
rs7791000	1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs7794303	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7794328	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7804310	1.00[EUR][1000 genomes]
rs7809182	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs806126	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs806161	0.84[AFR][1000 genomes]
rs806163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806164	1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806165	0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs806167	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.83[ASN][1000 genomes]
rs806168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[ASN][1000 genomes]
rs806171	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs806173	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes]
rs806182	0.81[AMR][1000 genomes]
rs809333	0.83[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	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

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127382000-127473000	Weak transcription	Hela-S3	cervix
2	chr7:127448400-127484800	Weak transcription	Aorta	Aorta
3	chr7:127449000-127484200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr7:127449600-127472600	Weak transcription	Lung	lung
5	chr7:127450800-127471200	Weak transcription	Dnd41	blood
6	chr7:127456400-127476800	Weak transcription	Esophagus	oesophagus
7	chr7:127457000-127477600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr7:127457000-127497800	Weak transcription	Gastric	stomach
9	chr7:127460800-127472800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr7:127460800-127477200	Weak transcription	Primary T helper cells fromperipheralblood	blood
11	chr7:127461000-127484400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:127461000-127495600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
13	chr7:127461000-127497600	Weak transcription	Fetal Stomach	stomach
14	chr7:127461400-127471400	Weak transcription	Right Atrium	heart
15	chr7:127461400-127473400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
16	chr7:127461400-127474600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr7:127461400-127476000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr7:127461400-127476800	Weak transcription	HSMM	muscle
19	chr7:127461400-127477000	Weak transcription	Primary T cells from cord blood	blood
20	chr7:127461400-127477200	Weak transcription	Primary T helper cells PMA-I stimulated	--
21	chr7:127461400-127477200	Weak transcription	Duodenum Mucosa	Duodenum
22	chr7:127461400-127477400	Weak transcription	NH-A	brain
23	chr7:127461400-127477600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr7:127461600-127470800	Weak transcription	Pancreatic Islets	Pancreatic Islet
25	chr7:127461600-127473400	Weak transcription	Muscle Satellite Cultured Cells	--
26	chr7:127461600-127473800	Weak transcription	NHDF-Ad	bronchial
27	chr7:127461600-127485600	Weak transcription	HSMMtube	muscle
28	chr7:127463200-127477200	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr7:127463400-127474400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:127463400-127476200	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr7:127463400-127477600	Weak transcription	Fetal Intestine Small	intestine
32	chr7:127463400-127479000	Weak transcription	Fetal Lung	lung
33	chr7:127463600-127472600	Weak transcription	Primary monocytes fromperipheralblood	blood
34	chr7:127463600-127473200	Weak transcription	Monocytes-CD14+_RO01746	blood
35	chr7:127463600-127474400	Weak transcription	Spleen	Spleen
36	chr7:127463600-127477600	Weak transcription	HMEC	breast
37	chr7:127463600-127482800	Weak transcription	Small Intestine	intestine
38	chr7:127463800-127471000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
39	chr7:127463800-127472800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr7:127463800-127474600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr7:127463800-127475600	Weak transcription	Primary hematopoietic stem cells	blood
42	chr7:127463800-127477200	Weak transcription	NHEK	skin
43	chr7:127464000-127474600	Weak transcription	HUES48 Cell Line	embryonic stem cell
44	chr7:127464600-127473800	Weak transcription	K562	blood
45	chr7:127464800-127471800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:127465000-127483200	Weak transcription	HepG2	liver
47	chr7:127465200-127473200	Weak transcription	HUVEC	blood vessel
48	chr7:127469000-127472600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
49	chr7:127469400-127470600	Weak transcription	GM12878-XiMat	blood
50	chr7:127469400-127471200	Weak transcription	Adipose Nuclei	Adipose

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