Variant report

Variant	rs806126
Chromosome Location	chr7:127341747-127341748
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127336753..127339370-chr7:127341738..127343979,2	K562	blood:
2	chr7:127330877..127333485-chr7:127340556..127342200,2	K562	blood:
3	chr7:127339061..127341983-chr7:127343851..127345821,2	MCF-7	breast:
4	chr7:127339163..127342392-chr7:127343485..127346590,4	K562	blood:
5	chr7:127332465..127334198-chr7:127341360..127343562,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197157	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:61)

rs_ID	r²[population]
rs1019578	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10228031	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs10229187	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs1025075	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs1440973	0.86[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs17133046	0.82[AFR][1000 genomes]
rs1833146	0.83[ASN][1000 genomes]
rs1966517	0.89[AFR][1000 genomes];0.88[AMR][1000 genomes]
rs2582716	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs325438	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs325439	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs325443	0.82[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs325448	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs325449	0.82[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs325450	0.83[ASN][1000 genomes]
rs327509	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs327514	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs327515	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs327517	1.00[JPT][hapmap];1.00[AMR][1000 genomes]
rs327519	0.89[AMR][1000 genomes]
rs327522	0.89[AMR][1000 genomes]
rs3757772	1.00[JPT][hapmap]
rs452896	0.89[AMR][1000 genomes]
rs4728078	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4731379	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4731382	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4731383	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs4731384	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs537972	1.00[AMR][1000 genomes]
rs6467142	0.91[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6467146	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6467147	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6467149	0.84[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6467150	0.81[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6467151	0.83[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6950211	0.87[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs6979918	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs698407	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs698409	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs712706	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs712708	1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs712709	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs712710	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs712711	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs712713	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs712714	1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[YRI][hapmap];0.99[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs712717	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs712720	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs73720863	0.89[AMR][1000 genomes]
rs7809182	1.00[JPT][hapmap]
rs806161	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs806163	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs806164	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs806165	0.88[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs806167	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs806168	1.00[CHB][hapmap];1.00[JPT][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs806170	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs806171	1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs806173	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs806182	0.89[ASN][1000 genomes]
rs809333	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]

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	nsv831122	chr7:127143207-127357885	Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	nsv1031658	chr7:127266882-127376775	Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	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

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127324400-127349000	Strong transcription	K562	blood
2	chr7:127324800-127344200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:127324800-127349400	Weak transcription	Stomach Mucosa	stomach
4	chr7:127324800-127350800	Weak transcription	Fetal Brain Female	brain
5	chr7:127324800-127372200	Weak transcription	Fetal Heart	heart
6	chr7:127325000-127346400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr7:127325600-127347200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr7:127325600-127363000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
9	chr7:127325800-127350200	Strong transcription	HepG2	liver
10	chr7:127326000-127352200	Strong transcription	Rectal Mucosa Donor 29	rectum
11	chr7:127326000-127354400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
12	chr7:127326000-127355600	Strong transcription	Duodenum Mucosa	Duodenum
13	chr7:127326200-127350600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr7:127326400-127347000	Strong transcription	Osteobl	bone
15	chr7:127326400-127347200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr7:127326400-127349200	Strong transcription	Dnd41	blood
17	chr7:127326400-127350200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr7:127326400-127350800	Strong transcription	Primary B cells from cord blood	blood
19	chr7:127326400-127350800	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr7:127326400-127351000	Strong transcription	HUES64 Cell Line	embryonic stem cell
21	chr7:127326400-127351800	Strong transcription	Placenta	Placenta
22	chr7:127326400-127352800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
23	chr7:127326400-127356600	Strong transcription	Primary T helper cells fromperipheralblood	blood
24	chr7:127326600-127342600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
25	chr7:127326600-127346400	Strong transcription	HSMM	muscle
26	chr7:127326600-127347200	Strong transcription	NH-A	brain
27	chr7:127326600-127351000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:127326600-127355200	Strong transcription	HUES48 Cell Line	embryonic stem cell
29	chr7:127326600-127379800	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr7:127326800-127371000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr7:127327000-127355200	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr7:127330000-127347000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:127330000-127355600	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:127331000-127350600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr7:127331600-127375600	Strong transcription	Fetal Thymus	thymus
36	chr7:127332600-127345800	Strong transcription	Fetal Intestine Large	intestine
37	chr7:127332600-127351000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr7:127332800-127345800	Strong transcription	Primary T cells from cord blood	blood
39	chr7:127333200-127351000	Strong transcription	Primary T helper cells PMA-I stimulated	--
40	chr7:127333400-127351800	Strong transcription	Primary T cells fromperipheralblood	blood
41	chr7:127333600-127350800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr7:127333800-127347400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:127333800-127351800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
44	chr7:127333800-127354200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
45	chr7:127334200-127343200	Weak transcription	Brain Hippocampus Middle	brain
46	chr7:127334200-127350800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr7:127334200-127351000	Strong transcription	Liver	Liver
48	chr7:127334200-127351600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
49	chr7:127334400-127376600	Weak transcription	Fetal Brain Male	brain
50	chr7:127334600-127345800	Strong transcription	Left Ventricle	heart

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