Variant report

Variant	rs6467140
Chromosome Location	chr7:127339859-127339860
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127339061..127341983-chr7:127343851..127345821,2	MCF-7	breast:
2	chr7:127339163..127342392-chr7:127343485..127346590,4	K562	blood:
3	chr7:127324074..127325812-chr7:127338072..127340357,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10229583	0.88[CHB][hapmap]
rs10274574	0.83[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1419968	0.96[YRI][hapmap]
rs1978495	0.84[AFR][1000 genomes];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2043981	0.89[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2402868	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs3808089	0.88[CHB][hapmap]
rs3824001	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs4473953	0.88[CHB][hapmap]
rs6467148	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6467153	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6943219	0.82[ASW][hapmap];0.88[CHB][hapmap]
rs6943385	0.88[CHB][hapmap]
rs6953134	0.82[ASW][hapmap];0.88[CHB][hapmap]
rs6970024	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];0.80[ASN][1000 genomes]
rs6978335	0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs6979634	0.88[CHB][hapmap]
rs7778413	0.82[ASW][hapmap];0.88[CHB][hapmap]
rs7781189	0.88[CHB][hapmap]
rs7783102	0.88[CHB][hapmap]
rs7784200	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.98[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7786786	0.82[ASW][hapmap];0.88[CHB][hapmap]
rs806176	1.00[CEU][hapmap];0.94[CHB][hapmap];0.91[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.94[EUR][1000 genomes]
rs806178	1.00[CEU][hapmap];0.94[CHB][hapmap];0.89[GIH][hapmap];0.90[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes]
rs806179	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs806181	0.95[EUR][1000 genomes]
rs806183	0.85[EUR][1000 genomes]
rs806187	0.95[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][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	chr7:127334200-127340600	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr7:127334200-127343200	Weak transcription	Brain Hippocampus Middle	brain
47	chr7:127334200-127350800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
48	chr7:127334200-127351000	Strong transcription	Liver	Liver
49	chr7:127334200-127351600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr7:127334400-127341200	Weak transcription	Brain Angular Gyrus	brain

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