Variant report

Variant	rs60751623
Chromosome Location	chr22:29944589-29944590
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:29942131..29944631-chr22:29945594..29947597,2	MCF-7	breast:
2	chr22:29943855..29946022-chr22:29948104..29949862,2	K562	blood:
3	chr22:29938437..29940751-chr22:29944125..29946145,2	K562	blood:

Variant related genes	Relation type
ENSG00000100296	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs56783715	0.90[ASN][1000 genomes]
rs57014206	0.90[ASN][1000 genomes]
rs58113244	0.90[ASN][1000 genomes]
rs58808486	0.82[ASN][1000 genomes]
rs59172206	0.90[ASN][1000 genomes]
rs59237579	0.90[ASN][1000 genomes]
rs59422664	0.90[ASN][1000 genomes]
rs59698661	0.82[ASN][1000 genomes]
rs59902813	0.90[ASN][1000 genomes]
rs60020246	0.90[ASN][1000 genomes]
rs60670183	0.82[ASN][1000 genomes]
rs60965931	0.90[ASN][1000 genomes]
rs61399074	0.82[ASN][1000 genomes]
rs61432554	0.90[ASN][1000 genomes]
rs61740613	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7285384	0.82[ASN][1000 genomes]
rs7288777	0.82[ASN][1000 genomes]
rs8136249	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs8139885	1.00[AMR][1000 genomes];1.00[ASN][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	nsv529742	chr22:29677909-30274388	Bivalent Enhancer Enhancers ZNF genes & repeats Strong transcription Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv1058156	chr22:29772043-30024013	Strong transcription Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
3	nsv544675	chr22:29772043-30024013	Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1062373	chr22:29826745-30092448	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
5	nsv544676	chr22:29826745-30092448	Enhancers Bivalent/Poised TSS Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh 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	nsv1064081	chr22:29826745-30623965	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv544677	chr22:29826745-30623965	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
8	nsv834172	chr22:29899036-30057948	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29898200-29947400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr22:29900400-29949200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr22:29901000-29947600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr22:29901200-29945600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr22:29901400-29945800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr22:29902600-29949000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr22:29910000-29947800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr22:29910600-29947800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr22:29911200-29947000	Strong transcription	HUES48 Cell Line	embryonic stem cell
10	chr22:29911400-29945400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
11	chr22:29913600-29949200	Weak transcription	Right Atrium	heart
12	chr22:29918000-29948000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
13	chr22:29919000-29946600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr22:29919200-29946600	Strong transcription	Fetal Muscle Trunk	muscle
15	chr22:29919200-29946800	Strong transcription	HUES6 Cell Line	embryonic stem cell
16	chr22:29919400-29945200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
17	chr22:29919400-29946200	Strong transcription	H1 Cell Line	embryonic stem cell
18	chr22:29919400-29946600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr22:29919400-29946800	Strong transcription	Fetal Muscle Leg	muscle
20	chr22:29919400-29947000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
21	chr22:29919400-29947000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr22:29919600-29945400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr22:29919600-29945400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr22:29919800-29945800	Strong transcription	Thymus	Thymus
25	chr22:29921000-29945400	Strong transcription	Liver	Liver
26	chr22:29925000-29949200	Weak transcription	Small Intestine	intestine
27	chr22:29925600-29946600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr22:29925800-29947000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr22:29925800-29948800	Weak transcription	Stomach Mucosa	stomach
30	chr22:29928000-29947400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
31	chr22:29929200-29945400	Strong transcription	Left Ventricle	heart
32	chr22:29929400-29945400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
33	chr22:29930200-29948800	Weak transcription	Fetal Heart	heart
34	chr22:29930400-29946800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr22:29930400-29947000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
36	chr22:29930400-29947000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr22:29930600-29947800	Strong transcription	Fetal Intestine Small	intestine
38	chr22:29930600-29947800	Strong transcription	Fetal Stomach	stomach
39	chr22:29930800-29947800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
40	chr22:29931200-29945400	Strong transcription	Lung	lung
41	chr22:29931400-29946800	Strong transcription	Primary T cells fromperipheralblood	blood
42	chr22:29931600-29945800	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr22:29931600-29946600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr22:29931600-29946800	Strong transcription	Stomach Smooth Muscle	stomach
45	chr22:29932800-29946600	Strong transcription	Fetal Thymus	thymus
46	chr22:29933000-29949000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr22:29933200-29949000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
48	chr22:29933400-29945600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr22:29935800-29948600	Weak transcription	Fetal Brain Male	brain
50	chr22:29936000-29944600	Weak transcription	K562	blood

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