Variant report

Variant	rs73370623
Chromosome Location	chr7:65368453-65368454
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:65366932..65368571-chr7:65372098..65374403,2	K562	blood:

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs2279903	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs3735144	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs57737362	0.92[AMR][1000 genomes]
rs58600265	0.92[AMR][1000 genomes]
rs58976916	0.92[AMR][1000 genomes]
rs59697660	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs60220916	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60748223	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs61240358	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs61665304	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73368787	0.81[AFR][1000 genomes]
rs73368792	1.00[AFR][1000 genomes]
rs73368796	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73370679	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs73370687	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs73372603	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs73372614	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73372618	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73372623	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73372662	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73372665	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs73372688	0.92[AMR][1000 genomes]
rs73372692	0.92[AMR][1000 genomes]
rs73372693	0.92[AMR][1000 genomes]
rs9638231	0.92[AMR][1000 genomes]
rs9638481	0.92[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	nsv429767	chr7:64473713-65415647	Enhancers Genic enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	esv2759534	chr7:64551274-65373851	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
3	nsv427788	chr7:64551274-65390424	Weak transcription Active TSS Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
4	nsv1029942	chr7:64679680-65371565	Flanking Active TSS Weak transcription Strong transcription Enhancers Bivalent/Poised TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
5	nsv538903	chr7:64679680-65371565	Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
6	nsv1019667	chr7:64679680-65380603	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
7	esv2757227	chr7:64694241-65373851	Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
8	esv2761079	chr7:65092426-65689733	Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	53 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:65339200-65372200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr7:65339400-65371800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr7:65339600-65368600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr7:65339600-65370000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr7:65339600-65371600	Weak transcription	Thymus	Thymus
6	chr7:65339600-65381200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:65339600-65394400	Weak transcription	HMEC	breast
8	chr7:65340000-65370200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr7:65345200-65419000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:65351800-65389200	Weak transcription	Lung	lung
11	chr7:65353000-65371600	Weak transcription	Liver	Liver
12	chr7:65353200-65371200	Weak transcription	H1 Cell Line	embryonic stem cell
13	chr7:65354000-65369200	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr7:65357000-65392400	Weak transcription	Duodenum Mucosa	Duodenum
15	chr7:65357400-65372600	Weak transcription	Brain Angular Gyrus	brain
16	chr7:65357400-65381000	Weak transcription	Primary B cells from cord blood	blood
17	chr7:65357600-65375600	Weak transcription	HSMM	muscle
18	chr7:65358000-65369200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:65358000-65375400	Weak transcription	Fetal Heart	heart
20	chr7:65358200-65369600	Weak transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:65358200-65392400	Weak transcription	Primary T cells from cord blood	blood
22	chr7:65358400-65374200	Weak transcription	Ovary	ovary
23	chr7:65362600-65383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr7:65364200-65369600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr7:65364400-65371200	Weak transcription	Pancreas	Pancrea
26	chr7:65364400-65392400	Weak transcription	Left Ventricle	heart
27	chr7:65364600-65369600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
28	chr7:65364800-65377800	Weak transcription	Osteobl	bone
29	chr7:65364800-65387400	Weak transcription	K562	blood
30	chr7:65365800-65368800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr7:65366000-65371800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr7:65366200-65370200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr7:65366400-65369400	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
34	chr7:65366400-65371400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
35	chr7:65366400-65406800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
36	chr7:65366800-65403600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
37	chr7:65367400-65371600	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr7:65367400-65377000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr7:65367400-65378200	Weak transcription	Rectal Mucosa Donor 29	rectum
40	chr7:65367600-65369400	Weak transcription	A549	lung
41	chr7:65367600-65371600	Weak transcription	HepG2	liver
42	chr7:65367600-65372600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr7:65367600-65373800	Weak transcription	NHDF-Ad	bronchial
44	chr7:65367600-65376400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr7:65367600-65388200	Weak transcription	Monocytes-CD14+_RO01746	blood
46	chr7:65367800-65368800	Weak transcription	Dnd41	blood
47	chr7:65367800-65369400	Weak transcription	Fetal Intestine Large	intestine
48	chr7:65367800-65369600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr7:65367800-65394400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr7:65368200-65368800	ZNF genes & repeats	Fetal Intestine Small	intestine

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