Variant report

Variant	rs1468702
Chromosome Location	chr7:127544633-127544634
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 64 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:59)

rs_ID	r²[population]
rs1019578	1.00[EUR][1000 genomes]
rs10228031	1.00[EUR][1000 genomes]
rs1025075	1.00[EUR][1000 genomes]
rs10487503	1.00[EUR][1000 genomes]
rs1073155	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes]
rs12536253	1.00[JPT][hapmap]
rs1440973	1.00[EUR][1000 genomes]
rs17133046	1.00[EUR][1000 genomes]
rs17151515	0.91[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151567	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151575	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17151629	1.00[EUR][1000 genomes]
rs17151639	1.00[JPT][hapmap]
rs17151650	1.00[JPT][hapmap];0.86[YRI][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1833146	0.82[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs1966517	1.00[EUR][1000 genomes]
rs2402873	1.00[JPT][hapmap];0.90[AMR][1000 genomes]
rs325438	1.00[EUR][1000 genomes]
rs325439	1.00[EUR][1000 genomes]
rs325443	1.00[EUR][1000 genomes]
rs325448	1.00[EUR][1000 genomes]
rs325449	1.00[EUR][1000 genomes]
rs325450	0.83[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs3757772	1.00[JPT][hapmap]
rs4728078	1.00[EUR][1000 genomes]
rs4728082	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4728084	1.00[GIH][hapmap];0.85[MEX][hapmap]
rs4728085	1.00[GIH][hapmap];0.85[MEX][hapmap]
rs4731379	1.00[EUR][1000 genomes]
rs4731382	1.00[EUR][1000 genomes]
rs4731383	1.00[EUR][1000 genomes]
rs4731384	1.00[EUR][1000 genomes]
rs4731390	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4731391	1.00[GIH][hapmap];1.00[JPT][hapmap];0.85[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs61743021	0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6467146	1.00[EUR][1000 genomes]
rs6467149	1.00[EUR][1000 genomes]
rs6467154	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.86[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6946590	1.00[EUR][1000 genomes]
rs6950211	1.00[EUR][1000 genomes]
rs6952123	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6952734	0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6953530	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6964714	1.00[EUR][1000 genomes]
rs6972398	0.92[AFR][1000 genomes];0.86[AMR][1000 genomes]
rs6975274	0.82[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6976145	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs698409	1.00[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs712720	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes]
rs73721253	0.82[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73721258	1.00[EUR][1000 genomes]
rs73721261	1.00[EUR][1000 genomes]
rs73721264	1.00[EUR][1000 genomes]
rs7783560	1.00[EUR][1000 genomes]
rs7791000	1.00[ASW][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.85[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7794303	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7794328	0.92[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7804310	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7809182	1.00[JPT][hapmap]

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	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

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127528800-127569200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
2	chr7:127529000-127557200	Weak transcription	Esophagus	oesophagus
3	chr7:127529200-127545600	Weak transcription	Fetal Stomach	stomach
4	chr7:127529200-127546200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr7:127529200-127548400	Weak transcription	Right Ventricle	heart
6	chr7:127529200-127569400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
7	chr7:127529400-127551000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
8	chr7:127532200-127569200	Weak transcription	Hela-S3	cervix
9	chr7:127532400-127547400	Weak transcription	A549	lung
10	chr7:127532400-127569200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr7:127532600-127546000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr7:127532800-127544800	Weak transcription	Primary T helper cells fromperipheralblood	blood
13	chr7:127532800-127545600	Weak transcription	Fetal Muscle Trunk	muscle
14	chr7:127538400-127545400	Weak transcription	HSMM	muscle
15	chr7:127538400-127546000	Weak transcription	NHLF	lung
16	chr7:127538800-127546200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
17	chr7:127539000-127545600	Weak transcription	NH-A	brain
18	chr7:127539000-127556400	Weak transcription	Psoas Muscle	Psoas
19	chr7:127539800-127544800	Enhancers	H1 Cell Line	embryonic stem cell
20	chr7:127540200-127544800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr7:127541000-127545600	Weak transcription	Aorta	Aorta
22	chr7:127541000-127569200	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:127541200-127569400	Weak transcription	Left Ventricle	heart
24	chr7:127541400-127545600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr7:127541400-127550800	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr7:127541600-127544800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:127541600-127544800	Weak transcription	Right Atrium	heart
28	chr7:127541600-127545400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
29	chr7:127541600-127545600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr7:127541600-127545600	Weak transcription	Lung	lung
31	chr7:127541600-127545800	Weak transcription	Sigmoid Colon	Sigmoid Colon
32	chr7:127541800-127546000	Weak transcription	Small Intestine	intestine
33	chr7:127542200-127545400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
34	chr7:127542400-127545200	Weak transcription	Primary B cells from cord blood	blood
35	chr7:127542400-127545400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr7:127542600-127544800	Weak transcription	Primary monocytes fromperipheralblood	blood
37	chr7:127542600-127545400	Weak transcription	Liver	Liver
38	chr7:127542600-127545600	Weak transcription	Colon Smooth Muscle	Colon
39	chr7:127542600-127545600	Weak transcription	Duodenum Mucosa	Duodenum
40	chr7:127542600-127545600	Weak transcription	Stomach Mucosa	stomach
41	chr7:127542600-127545800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
42	chr7:127542600-127546200	Weak transcription	Adipose Nuclei	Adipose
43	chr7:127542600-127546600	Weak transcription	Rectal Mucosa Donor 31	rectum
44	chr7:127542600-127547400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr7:127542600-127547400	Weak transcription	Fetal Kidney	kidney
46	chr7:127542600-127553000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr7:127542600-127553000	Weak transcription	Ovary	ovary
48	chr7:127542600-127553400	Weak transcription	Duodenum Smooth Muscle	Duodenum
49	chr7:127542800-127544800	Weak transcription	Fetal Thymus	thymus
50	chr7:127542800-127545400	Weak transcription	Primary hematopoietic stem cells	blood

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