Variant report

Variant	rs73717356
Chromosome Location	chr7:121125962-121125963
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:121119950..121122804-chr7:121124054..121125979,2	K562	blood:
2	chr7:121036043..121037977-chr7:121125686..121127316,2	MCF-7	breast:
3	chr7:120946416..120948519-chr7:121124006..121127005,2	K562	blood:
4	chr7:121122074..121126190-chr7:121126769..121131009,4	K562	blood:
5	chr7:121125137..121127628-chr7:121130797..121133318,2	MCF-7	breast:
6	chr7:121124175..121126190-chr7:121129210..121131009,2	K562	blood:

Variant related genes	Relation type
ENSG00000196937	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs60117506	1.00[AMR][1000 genomes]
rs61059527	1.00[AMR][1000 genomes]
rs6973053	1.00[AMR][1000 genomes]
rs73440267	1.00[AMR][1000 genomes]
rs73717338	1.00[AMR][1000 genomes]
rs73717340	1.00[AMR][1000 genomes]
rs73717354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73717355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1025430	chr7:120638930-121179289	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	nsv1026322	chr7:120841937-121188037	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv539102	chr7:120841937-121188037	Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Weak transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1032054	chr7:120926379-121432971	Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv539103	chr7:120926379-121432971	Weak transcription Enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
6	nsv428507	chr7:121037303-121191934	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv1029156	chr7:121069455-121143942	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	nsv539104	chr7:121069455-121143942	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:34 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121121200-121129200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
2	chr7:121122200-121128400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
3	chr7:121123000-121128400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
4	chr7:121123400-121128600	Weak transcription	HUES64 Cell Line	embryonic stem cell
5	chr7:121124800-121127000	Enhancers	Cortex derived primary cultured neurospheres	brain
6	chr7:121125000-121126600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr7:121125200-121126400	Enhancers	HMEC	breast
8	chr7:121125200-121126600	Enhancers	Muscle Satellite Cultured Cells	--
9	chr7:121125200-121126600	Enhancers	NHEK	skin
10	chr7:121125200-121126800	Enhancers	Colon Smooth Muscle	Colon
11	chr7:121125200-121127000	Enhancers	Breast Myoepithelial Primary Cells	Breast
12	chr7:121125200-121127000	Enhancers	Rectal Smooth Muscle	rectum
13	chr7:121125400-121126000	Enhancers	Brain Hippocampus Middle	brain
14	chr7:121125400-121126200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr7:121125400-121126200	Enhancers	HSMM	muscle
16	chr7:121125400-121126600	Enhancers	Fetal Brain Male	brain
17	chr7:121125400-121126600	Enhancers	NHDF-Ad	bronchial
18	chr7:121125600-121126000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
19	chr7:121125600-121126000	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr7:121125600-121126000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
21	chr7:121125600-121126000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
22	chr7:121125600-121126000	Enhancers	Adipose Nuclei	Adipose
23	chr7:121125600-121126000	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr7:121125600-121126200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr7:121125600-121126200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
26	chr7:121125600-121126400	Enhancers	Brain Angular Gyrus	brain
27	chr7:121125600-121126400	Enhancers	Fetal Muscle Leg	muscle
28	chr7:121125600-121126400	Enhancers	Osteobl	bone
29	chr7:121125600-121126600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr7:121125800-121126000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
31	chr7:121125800-121126000	Enhancers	Right Atrium	heart
32	chr7:121125800-121126600	Enhancers	Esophagus	oesophagus
33	chr7:121125800-121126600	Enhancers	Fetal Brain Female	brain
34	chr7:121125800-121126600	Enhancers	Placenta	Placenta

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