Variant report

Variant	rs2857631
Chromosome Location	chr22:30101878-30101879
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr22:30097362..30099278-chr22:30100636..30102663,2	K562	blood:
2	chr22:30101634..30103485-chr22:30110793..30113259,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11090572	0.82[AFR][1000 genomes]
rs2158619	0.83[CEU][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2348686	0.92[YRI][hapmap]
rs2527334	0.82[CEU][hapmap]
rs2530685	0.85[AFR][1000 genomes];0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2857652	0.83[CEU][hapmap];0.92[YRI][hapmap];0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs62227968	0.83[AFR][1000 genomes]
rs731647	0.87[CEU][hapmap];0.92[YRI][hapmap];0.84[ASN][1000 genomes]
rs756053	0.87[CEU][hapmap];0.91[YRI][hapmap];0.85[EUR][1000 genomes];0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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	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
3	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
4	nsv529737	chr22:30060946-30109561	Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv914963	chr22:30075052-30133579	Bivalent Enhancer Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
6	nsv914964	chr22:30081715-30150549	Bivalent Enhancer Strong transcription Enhancers Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
7	nsv515720	chr22:30081715-30163526	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
8	nsv914965	chr22:30086144-30112226	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv914966	chr22:30088442-30138548	Weak transcription Bivalent Enhancer Strong transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	esv1816879	chr22:30096309-30126906	Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30095800-30103000	Enhancers	Cortex derived primary cultured neurospheres	brain
2	chr22:30096000-30103600	Enhancers	Fetal Brain Male	brain
3	chr22:30096200-30103200	Enhancers	Fetal Brain Female	brain
4	chr22:30096400-30103000	Enhancers	Brain Anterior Caudate	brain
5	chr22:30096400-30103200	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
6	chr22:30096400-30103600	Enhancers	Brain Inferior Temporal Lobe	brain
7	chr22:30096400-30107400	Bivalent Enhancer	Fetal Muscle Trunk	muscle
8	chr22:30096600-30102000	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr22:30096600-30103800	Enhancers	Brain Cingulate Gyrus	brain
10	chr22:30097000-30102200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr22:30097000-30106400	Weak transcription	Psoas Muscle	Psoas
12	chr22:30098000-30102800	Weak transcription	Esophagus	oesophagus
13	chr22:30098800-30102400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr22:30098800-30115600	Weak transcription	Right Atrium	heart
15	chr22:30099000-30102000	Enhancers	Fetal Lung	lung
16	chr22:30099400-30103600	Enhancers	Brain Germinal Matrix	brain
17	chr22:30099600-30103200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
18	chr22:30099600-30103400	Enhancers	Gastric	stomach
19	chr22:30099800-30102200	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
20	chr22:30099800-30103000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr22:30100000-30103200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr22:30100200-30102400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr22:30100200-30103200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr22:30100400-30102200	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
25	chr22:30100800-30102200	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr22:30100800-30102200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr22:30100800-30103600	Enhancers	Brain Substantia Nigra	brain
28	chr22:30101000-30102200	Weak transcription	NH-A	brain
29	chr22:30101000-30102800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:30101000-30103200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr22:30101000-30103400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
32	chr22:30101000-30103600	Enhancers	Brain Angular Gyrus	brain
33	chr22:30101400-30102200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
34	chr22:30101400-30102200	Weak transcription	Spleen	Spleen
35	chr22:30101400-30104800	Weak transcription	HSMMtube	muscle
36	chr22:30101600-30102400	Enhancers	Fetal Muscle Leg	muscle
37	chr22:30101600-30103800	Enhancers	Brain Hippocampus Middle	brain
38	chr22:30101800-30102000	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell
39	chr22:30101800-30102000	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr22:30101800-30102000	Bivalent Enhancer	Colonic Mucosa	Colon

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