Variant report

Variant	rs269228
Chromosome Location	chr7:140326536-140326537
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140326135..140328395-chr7:140330259..140333160,2	K562	blood:
2	chr7:140177738..140180621-chr7:140323233..140327044,4	MCF-7	breast:
3	chr7:140326135..140327836-chr7:140331660..140333245,2	K562	blood:
4	chr7:140320485..140322777-chr7:140324198..140327820,3	K562	blood:

Variant related genes	Relation type
ENSG00000133606	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs269229	0.80[AFR][1000 genomes]
rs269231	0.80[AFR][1000 genomes]
rs7787161	1.00[ASN][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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140322800-140327800	Weak transcription	Psoas Muscle	Psoas
2	chr7:140323600-140326800	Enhancers	Placenta Amnion	Placenta Amnion
3	chr7:140323800-140326600	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:140324400-140326800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
5	chr7:140324400-140327400	Weak transcription	Liver	Liver
6	chr7:140324400-140327600	Enhancers	Fetal Muscle Trunk	muscle
7	chr7:140324600-140329200	Enhancers	Placenta	Placenta
8	chr7:140324800-140327400	Enhancers	Fetal Muscle Leg	muscle
9	chr7:140325400-140328200	Enhancers	ES-I3 Cell Line	embryonic stem cell
10	chr7:140325400-140328200	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr7:140325400-140328400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr7:140325600-140326800	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr7:140325600-140326800	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr7:140325600-140327000	Enhancers	HUES6 Cell Line	embryonic stem cell
15	chr7:140325600-140327000	Enhancers	NH-A	brain
16	chr7:140325600-140327200	Enhancers	HMEC	breast
17	chr7:140325600-140328200	Enhancers	NHLF	lung
18	chr7:140325800-140326600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr7:140325800-140326600	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr7:140325800-140326600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr7:140325800-140326600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
22	chr7:140325800-140326600	Genic enhancers	Fetal Intestine Small	intestine
23	chr7:140325800-140326600	Flanking Active TSS	NHEK	skin
24	chr7:140325800-140326800	Enhancers	H1 Cell Line	embryonic stem cell
25	chr7:140325800-140326800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr7:140325800-140326800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr7:140325800-140326800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr7:140325800-140326800	Enhancers	iPS-18 Cell Line	embryonic stem cell
29	chr7:140325800-140326800	Enhancers	Brain Angular Gyrus	brain
30	chr7:140325800-140326800	Flanking Active TSS	A549	lung
31	chr7:140325800-140327000	Enhancers	iPS-20b Cell Line	embryonic stem cell
32	chr7:140325800-140327000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr7:140325800-140327000	Enhancers	Fetal Lung	lung
34	chr7:140325800-140327000	Enhancers	HSMMtube	muscle
35	chr7:140325800-140327200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:140325800-140328200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
37	chr7:140326000-140326600	Enhancers	Fetal Intestine Large	intestine
38	chr7:140326000-140326600	Enhancers	Gastric	stomach
39	chr7:140326000-140326600	Enhancers	Left Ventricle	heart
40	chr7:140326000-140326600	Enhancers	Ovary	ovary
41	chr7:140326000-140326600	Enhancers	Right Atrium	heart
42	chr7:140326000-140326600	Enhancers	Right Ventricle	heart
43	chr7:140326000-140326600	Enhancers	Skeletal Muscle Female	skeletal muscle
44	chr7:140326000-140326600	Enhancers	HSMM	muscle
45	chr7:140326000-140326800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr7:140326000-140326800	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr7:140326000-140326800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr7:140326000-140326800	Bivalent Enhancer	Muscle Satellite Cultured Cells	--
49	chr7:140326000-140326800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:140326000-140326800	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain

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