Variant report

Variant	rs710195
Chromosome Location	chr22:29887186-29887187
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:29886134..29888747-chr22:29893821..29896111,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs1061373	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240635	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2240636	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs5763264	0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6006166	0.80[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv531586	chr22:29252132-29902266	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	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
8	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
9	nsv1062039	chr22:29854861-29889201	Flanking Active TSS Bivalent/Poised TSS Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:43 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:29877400-29900600	Weak transcription	Right Atrium	heart
2	chr22:29878000-29900800	Weak transcription	Fetal Brain Female	brain
3	chr22:29878000-29903000	Weak transcription	Pancreas	Pancrea
4	chr22:29878200-29888400	Weak transcription	Primary hematopoietic stem cells	blood
5	chr22:29878200-29890400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr22:29878400-29895600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr22:29878400-29899800	Weak transcription	Fetal Intestine Large	intestine
8	chr22:29878400-29899800	Weak transcription	NH-A	brain
9	chr22:29878600-29890600	Weak transcription	HSMM	muscle
10	chr22:29878800-29890600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr22:29878800-29902600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr22:29879000-29890600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr22:29879000-29898600	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr22:29879000-29899600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr22:29879200-29890600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr22:29879200-29901200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr22:29879600-29898800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr22:29879600-29899400	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr22:29880200-29890600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr22:29880400-29901000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr22:29882000-29899200	Weak transcription	Brain Angular Gyrus	brain
22	chr22:29882600-29890600	Weak transcription	Fetal Intestine Small	intestine
23	chr22:29882800-29903200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
24	chr22:29883400-29890600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr22:29883400-29890600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr22:29883600-29899800	Weak transcription	Brain Germinal Matrix	brain
27	chr22:29883800-29890200	Weak transcription	Ovary	ovary
28	chr22:29883800-29904000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr22:29884000-29902200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr22:29884800-29901200	Weak transcription	HUES64 Cell Line	embryonic stem cell
31	chr22:29885000-29889000	Weak transcription	Adipose Nuclei	Adipose
32	chr22:29885000-29890000	Weak transcription	HUES6 Cell Line	embryonic stem cell
33	chr22:29885000-29902600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
34	chr22:29885400-29890600	Weak transcription	Spleen	Spleen
35	chr22:29885600-29890600	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr22:29885600-29904000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr22:29886000-29903400	Weak transcription	Gastric	stomach
38	chr22:29886200-29895400	Weak transcription	Fetal Stomach	stomach
39	chr22:29886200-29899600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
40	chr22:29886200-29902800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
41	chr22:29886400-29887400	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr22:29886800-29899800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
43	chr22:29887000-29887400	Weak transcription	H9 Cell Line	embryonic stem cell

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