Variant report

Variant	rs269229
Chromosome Location	chr7:140326008-140326009
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	chr7:140177738..140180621-chr7:140323233..140327044,4	MCF-7	breast:
2	chr7:140320485..140322777-chr7:140324198..140327820,3	K562	blood:

Variant related genes	Relation type
ENSG00000133606	Chromatin interaction

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1639968	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1681774	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs269228	0.80[AFR][1000 genomes]
rs269231	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs269265	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6974612	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv1021133	chr7:140270797-140338653	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
3	nsv1029128	chr7:140293389-140335570	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140302200-140326200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:140302400-140326200	Weak transcription	Fetal Brain Female	brain
3	chr7:140310800-140326400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr7:140320800-140326200	Weak transcription	Brain Cingulate Gyrus	brain
5	chr7:140320800-140326200	Weak transcription	Brain Inferior Temporal Lobe	brain
6	chr7:140321600-140326400	Genic enhancers	Fetal Stomach	stomach
7	chr7:140322800-140327800	Weak transcription	Psoas Muscle	Psoas
8	chr7:140323600-140326800	Enhancers	Placenta Amnion	Placenta Amnion
9	chr7:140323800-140326600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr7:140324400-140326800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:140324400-140327400	Weak transcription	Liver	Liver
12	chr7:140324400-140327600	Enhancers	Fetal Muscle Trunk	muscle
13	chr7:140324600-140326200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr7:140324600-140326200	Weak transcription	Lung	lung
15	chr7:140324600-140329200	Enhancers	Placenta	Placenta
16	chr7:140324800-140327400	Enhancers	Fetal Muscle Leg	muscle
17	chr7:140325000-140326200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr7:140325400-140328200	Enhancers	ES-I3 Cell Line	embryonic stem cell
19	chr7:140325400-140328200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
20	chr7:140325400-140328400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
21	chr7:140325600-140326800	Enhancers	HUES64 Cell Line	embryonic stem cell
22	chr7:140325600-140326800	Enhancers	iPS-15b Cell Line	embryonic stem cell
23	chr7:140325600-140327000	Enhancers	HUES6 Cell Line	embryonic stem cell
24	chr7:140325600-140327000	Enhancers	NH-A	brain
25	chr7:140325600-140327200	Enhancers	HMEC	breast
26	chr7:140325600-140328200	Enhancers	NHLF	lung
27	chr7:140325800-140326200	Enhancers	Adipose Nuclei	Adipose
28	chr7:140325800-140326200	Enhancers	Brain Germinal Matrix	brain
29	chr7:140325800-140326200	Enhancers	Rectal Smooth Muscle	rectum
30	chr7:140325800-140326200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
31	chr7:140325800-140326200	Bivalent Enhancer	HepG2	liver
32	chr7:140325800-140326400	Bivalent Enhancer	Rectal Mucosa Donor 31	rectum
33	chr7:140325800-140326600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr7:140325800-140326600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
35	chr7:140325800-140326600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:140325800-140326600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr7:140325800-140326600	Genic enhancers	Fetal Intestine Small	intestine
38	chr7:140325800-140326600	Flanking Active TSS	NHEK	skin
39	chr7:140325800-140326800	Enhancers	H1 Cell Line	embryonic stem cell
40	chr7:140325800-140326800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
41	chr7:140325800-140326800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
42	chr7:140325800-140326800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr7:140325800-140326800	Enhancers	iPS-18 Cell Line	embryonic stem cell
44	chr7:140325800-140326800	Enhancers	Brain Angular Gyrus	brain
45	chr7:140325800-140326800	Flanking Active TSS	A549	lung
46	chr7:140325800-140327000	Enhancers	iPS-20b Cell Line	embryonic stem cell
47	chr7:140325800-140327000	Enhancers	Breast Myoepithelial Primary Cells	Breast
48	chr7:140325800-140327000	Enhancers	Fetal Lung	lung
49	chr7:140325800-140327000	Enhancers	HSMMtube	muscle
50	chr7:140325800-140327200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin

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