Variant report

Variant	rs806187
Chromosome Location	chr7:127269639-127269640
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:127228329..127229581-chr7:127268970..127269931,4	MCF-7	breast:
2	chr7:127238051..127238964-chr7:127269066..127269762,2	MCF-7	breast:
3	chr7:127228657..127229515-chr7:127269086..127269770,3	MCF-7	breast:
4	chr7:127268675..127271053-chr7:127289533..127291398,3	MCF-7	breast:
5	chr7:127263721..127266239-chr7:127267229..127270331,3	K562	blood:

Variant related genes	Relation type
ENSG00000004059	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2402868	0.85[EUR][1000 genomes]
rs6467140	0.88[EUR][1000 genomes]
rs7784200	0.95[CEU][hapmap];0.88[CHB][hapmap];0.90[JPT][hapmap];0.88[EUR][1000 genomes]
rs806176	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs806178	0.95[CEU][hapmap];0.94[CHB][hapmap];1.00[JPT][hapmap];0.82[YRI][hapmap];0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs806179	0.81[CHB][hapmap]
rs806181	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs806183	0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.84[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	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

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127268200-127269800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:127268800-127269800	Enhancers	HUES48 Cell Line	embryonic stem cell
3	chr7:127268800-127269800	Enhancers	HUES6 Cell Line	embryonic stem cell
4	chr7:127268800-127269800	Enhancers	iPS-18 Cell Line	embryonic stem cell
5	chr7:127268800-127269800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:127268800-127269800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:127268800-127269800	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr7:127268800-127272200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr7:127268800-127272200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
10	chr7:127269000-127269800	Enhancers	H1 Cell Line	embryonic stem cell
11	chr7:127269000-127269800	Enhancers	H9 Cell Line	embryonic stem cell
12	chr7:127269000-127269800	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr7:127269400-127269800	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:127269400-127269800	Enhancers	Primary T helper cells PMA-I stimulated	--
15	chr7:127269400-127269800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
16	chr7:127269400-127269800	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr7:127269400-127269800	Enhancers	Placenta	Placenta
18	chr7:127269400-127269800	Enhancers	Spleen	Spleen
19	chr7:127269600-127269800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
20	chr7:127269600-127269800	Flanking Active TSS	ES-WA7 Cell Line	embryonic stem cell
21	chr7:127269600-127269800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr7:127269600-127269800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr7:127269600-127269800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr7:127269600-127269800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr7:127269600-127269800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
26	chr7:127269600-127269800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
27	chr7:127269600-127269800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
28	chr7:127269600-127269800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr7:127269600-127269800	Flanking Active TSS	Duodenum Mucosa	Duodenum
30	chr7:127269600-127269800	Enhancers	Placenta Amnion	Placenta Amnion
31	chr7:127269600-127269800	Enhancers	HepG2	liver
32	chr7:127269600-127269800	Enhancers	Osteobl	bone
33	chr7:127269600-127270000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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