Variant report

Variant	rs73381122
Chromosome Location	chr7:39673045-39673046
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:39672032..39673667-chr7:39681503..39683307,2	K562	blood:
2	chr7:39670051..39673950-chr7:39675213..39677568,3	K562	blood:
3	chr7:39670051..39674974-chr7:39675213..39680609,7	K562	blood:
4	chr7:39666780..39669048-chr7:39669920..39673887,3	MCF-7	breast:

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs17171616	0.92[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17416875	1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17507811	0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs17508730	1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17509194	0.95[EUR][1000 genomes]
rs3779203	1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3801265	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56719666	0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs57509649	0.88[AFR][1000 genomes]
rs59341821	0.84[AFR][1000 genomes]
rs73377485	0.87[EUR][1000 genomes]
rs73381116	0.88[AFR][1000 genomes]
rs73381118	0.88[AFR][1000 genomes]
rs73381129	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs73381131	0.88[AFR][1000 genomes]
rs73387331	0.88[AFR][1000 genomes]
rs73387334	0.82[AFR][1000 genomes]
rs73387337	0.88[AFR][1000 genomes]
rs73387350	0.88[AFR][1000 genomes]
rs73387354	0.96[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73387357	0.88[AFR][1000 genomes]
rs73387375	0.88[AFR][1000 genomes]
rs73389244	0.84[AFR][1000 genomes]
rs73389259	0.84[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv887970	chr7:39587912-39688152	Bivalent Enhancer Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	nsv508451	chr7:39660784-39787222	Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv887971	chr7:39662268-39745775	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv887972	chr7:39666267-39733688	ZNF genes & repeats Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:39664400-39674600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:39664400-39674600	Weak transcription	Fetal Muscle Trunk	muscle
3	chr7:39664400-39674800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr7:39664400-39678400	Weak transcription	Placenta	Placenta
5	chr7:39664400-39679600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr7:39664800-39673200	Weak transcription	H1 Cell Line	embryonic stem cell
7	chr7:39665000-39673600	Weak transcription	Primary neutrophils fromperipheralblood	blood
8	chr7:39665200-39677800	Weak transcription	Brain Substantia Nigra	brain
9	chr7:39665400-39679800	Weak transcription	Stomach Smooth Muscle	stomach
10	chr7:39665600-39673400	Weak transcription	Colon Smooth Muscle	Colon
11	chr7:39665600-39680400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr7:39665600-39682200	Weak transcription	Liver	Liver
13	chr7:39666200-39673200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr7:39666200-39674000	Weak transcription	Rectal Smooth Muscle	rectum
15	chr7:39666200-39678200	Weak transcription	Brain Germinal Matrix	brain
16	chr7:39666200-39679000	Weak transcription	Esophagus	oesophagus
17	chr7:39666200-39681800	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr7:39666200-39694400	Weak transcription	Fetal Brain Female	brain
19	chr7:39666800-39681200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr7:39667200-39698800	Weak transcription	Fetal Kidney	kidney
21	chr7:39667400-39676000	Weak transcription	Colonic Mucosa	Colon
22	chr7:39667600-39678800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
23	chr7:39667800-39673400	Weak transcription	HSMMtube	muscle
24	chr7:39668000-39673200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:39668200-39673200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
26	chr7:39668200-39673400	Genic enhancers	HUVEC	blood vessel
27	chr7:39668200-39681000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
28	chr7:39668200-39681000	Weak transcription	Fetal Heart	heart
29	chr7:39668600-39680600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr7:39669600-39673200	Strong transcription	Muscle Satellite Cultured Cells	--
31	chr7:39669600-39673400	Strong transcription	Fetal Stomach	stomach
32	chr7:39669600-39681200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr7:39669800-39673400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr7:39670000-39673200	Strong transcription	HSMM	muscle
35	chr7:39671000-39673400	Strong transcription	Osteobl	bone
36	chr7:39671000-39674000	Enhancers	Left Ventricle	heart
37	chr7:39671000-39675400	Enhancers	Psoas Muscle	Psoas
38	chr7:39671000-39675600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr7:39671200-39677400	Strong transcription	Monocytes-CD14+_RO01746	blood
40	chr7:39671400-39673200	Enhancers	Primary T helper naive cells fromperipheralblood	blood
41	chr7:39671400-39673400	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr7:39671400-39674000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr7:39671400-39674000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr7:39671400-39674000	Enhancers	Adipose Nuclei	Adipose
45	chr7:39671400-39674200	Genic enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr7:39671400-39674400	Enhancers	Skeletal Muscle Male	skeletal muscle
47	chr7:39671400-39674400	Enhancers	Skeletal Muscle Female	skeletal muscle
48	chr7:39671400-39674400	Strong transcription	HepG2	liver
49	chr7:39671400-39675200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr7:39671600-39673200	Enhancers	Primary T helper cells fromperipheralblood	blood

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