Variant report

Variant	rs6972816
Chromosome Location	chr7:127616420-127616421
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	chr7:127614080..127617711-chr7:127619804..127624160,5	K562	blood:
2	chr7:127613884..127616731-chr7:127622987..127625650,2	MCF-7	breast:

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:32)

rs_ID	r²[population]
rs10487503	0.93[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs1073155	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs12536253	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs1468702	1.00[JPT][hapmap]
rs17151515	0.84[ASN][1000 genomes]
rs17151567	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs17151575	1.00[ASN][1000 genomes]
rs17151639	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs17151650	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs2402873	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs3757772	1.00[JPT][hapmap]
rs4728082	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs4731390	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs4731391	1.00[CHB][hapmap];1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs61743021	1.00[ASN][1000 genomes]
rs6467154	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs6946590	0.96[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6952123	0.95[ASN][1000 genomes]
rs6952734	1.00[ASN][1000 genomes]
rs6953530	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs6964714	0.85[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs6972398	0.84[ASN][1000 genomes]
rs6975274	1.00[ASN][1000 genomes]
rs6976145	1.00[JPT][hapmap];0.95[ASN][1000 genomes]
rs73721253	0.83[AFR][1000 genomes];0.81[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73721258	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs73721261	0.83[AFR][1000 genomes];0.85[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs73721264	0.87[AFR][1000 genomes];0.85[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs7791000	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs7794303	0.84[ASN][1000 genomes]
rs7794328	0.84[ASN][1000 genomes]
rs7809182	1.00[JPT][hapmap]

Variant overlapped rSNPs/rCNVs (count:6 , 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	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

No data

Chromatin state (count:117 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127570800-127618200	Weak transcription	Rectal Mucosa Donor 29	rectum
2	chr7:127571400-127617800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr7:127571600-127618000	Weak transcription	Rectal Mucosa Donor 31	rectum
4	chr7:127583200-127630600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr7:127584600-127617800	Weak transcription	Hela-S3	cervix
6	chr7:127585200-127616600	Weak transcription	A549	lung
7	chr7:127587400-127618000	Weak transcription	NHLF	lung
8	chr7:127587400-127635200	Weak transcription	NHDF-Ad	bronchial
9	chr7:127594000-127623400	Weak transcription	Placenta Amnion	Placenta Amnion
10	chr7:127594400-127616800	Weak transcription	HUES48 Cell Line	embryonic stem cell
11	chr7:127594400-127618000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr7:127594600-127618000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr7:127600000-127617800	Weak transcription	Primary T helper cells fromperipheralblood	blood
14	chr7:127600400-127617800	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr7:127600400-127617800	Weak transcription	Primary hematopoietic stem cells	blood
16	chr7:127600400-127618200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr7:127600600-127617000	Weak transcription	HUES64 Cell Line	embryonic stem cell
18	chr7:127600600-127617000	Weak transcription	Muscle Satellite Cultured Cells	--
19	chr7:127600600-127617800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr7:127600600-127630600	Weak transcription	Adipose Nuclei	Adipose
21	chr7:127601000-127616600	Weak transcription	Placenta	Placenta
22	chr7:127601000-127617000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:127601800-127617400	Weak transcription	HMEC	breast
24	chr7:127603000-127627000	Weak transcription	Aorta	Aorta
25	chr7:127603200-127619200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr7:127603400-127619000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr7:127606400-127618000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
28	chr7:127607400-127624000	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr7:127607600-127616600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr7:127607800-127626800	Weak transcription	Ovary	ovary
31	chr7:127609200-127618200	Weak transcription	Osteobl	bone
32	chr7:127609200-127618800	Weak transcription	Fetal Thymus	thymus
33	chr7:127609200-127630800	Weak transcription	NH-A	brain
34	chr7:127609400-127623400	Weak transcription	Pancreas	Pancrea
35	chr7:127609400-127635200	Weak transcription	Fetal Kidney	kidney
36	chr7:127611400-127617000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:127612800-127617800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr7:127612800-127618200	Strong transcription	K562	blood
39	chr7:127613000-127616800	Strong transcription	Primary T cells from cord blood	blood
40	chr7:127613000-127616800	Enhancers	Fetal Muscle Leg	muscle
41	chr7:127613000-127617200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr7:127613000-127617800	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr7:127613200-127616800	Enhancers	Brain Hippocampus Middle	brain
44	chr7:127613400-127617600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr7:127613600-127617200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr7:127613600-127617400	Enhancers	Fetal Brain Male	brain
47	chr7:127613600-127619800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:127613800-127616800	Strong transcription	GM12878-XiMat	blood
49	chr7:127613800-127617000	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr7:127613800-127623400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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