Variant report

Variant	rs2240365
Chromosome Location	chr22:30188741-30188742
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30182549..30186689-chr22:30188373..30192437,4	K562	blood:
2	chr22:30186308..30189058-chr22:30193017..30197746,4	K562	blood:
3	chr22:30183311..30186550-chr22:30186984..30189560,4	MCF-7	breast:
4	chr22:30185624..30189974-chr22:30192313..30194980,5	MCF-7	breast:
5	chr22:30182549..30185414-chr22:30188242..30189873,2	K562	blood:

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10483156	0.80[CHB][hapmap]
rs1071962	0.90[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs12158466	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12159277	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12166087	0.80[CHB][hapmap]
rs12627866	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12628028	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12628234	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12628294	0.84[ASN][1000 genomes]
rs12628545	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs14115	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs16987142	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16988049	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs17711461	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs17711508	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2018808	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240364	1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2240366	1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs249399	0.88[ASN][1000 genomes]
rs249402	0.88[ASN][1000 genomes]
rs28730892	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3788418	0.80[CHB][hapmap]
rs57122143	0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs58015017	0.89[EUR][1000 genomes]
rs59394320	0.87[EUR][1000 genomes]
rs5997515	1.00[CEU][hapmap]
rs5997518	0.87[EUR][1000 genomes]
rs5997519	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs5997520	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs5997524	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs6006234	1.00[CEU][hapmap]
rs6006235	1.00[CEU][hapmap]
rs6006241	0.87[EUR][1000 genomes]
rs6006242	1.00[JPT][hapmap];0.85[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6006247	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6006249	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6006250	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6006262	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs60805530	0.92[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61616383	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61736786	0.84[ASN][1000 genomes]
rs7285660	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7285800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7287777	0.89[EUR][1000 genomes]
rs7289250	0.85[EUR][1000 genomes]
rs7290420	1.00[CEU][hapmap]
rs73392899	0.83[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73394814	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73394831	0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs73394838	0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs737721	1.00[ASN][1000 genomes]
rs737728	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs737906	0.80[CHB][hapmap]
rs737907	0.80[CHB][hapmap]
rs740116	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8138165	0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs9620935	0.80[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:5 , 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	esv1829662	chr22:30171725-30304390	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	esv1829425	chr22:30184378-30297376	Genic enhancers Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30166800-30194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr22:30175400-30194000	Weak transcription	Hela-S3	cervix
3	chr22:30177000-30189000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr22:30178400-30193000	Weak transcription	A549	lung
6	chr22:30181200-30196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr22:30181200-30196200	Weak transcription	Fetal Heart	heart
8	chr22:30182000-30194600	Strong transcription	Sigmoid Colon	Sigmoid Colon
9	chr22:30182200-30194000	Strong transcription	Fetal Muscle Leg	muscle
10	chr22:30182200-30217000	Strong transcription	Fetal Intestine Small	intestine
11	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
12	chr22:30182400-30192800	Strong transcription	Brain Hippocampus Middle	brain
13	chr22:30182600-30194800	Strong transcription	Fetal Muscle Trunk	muscle
14	chr22:30182800-30192000	Strong transcription	Skeletal Muscle Male	skeletal muscle
15	chr22:30182800-30192800	Strong transcription	Fetal Thymus	thymus
16	chr22:30182800-30194400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr22:30182800-30194600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr22:30182800-30194600	Strong transcription	Stomach Smooth Muscle	stomach
19	chr22:30182800-30204600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr22:30182800-30204800	Strong transcription	Fetal Brain Female	brain
21	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
22	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
23	chr22:30183000-30189000	Strong transcription	HUVEC	blood vessel
24	chr22:30183000-30189800	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr22:30183000-30191600	Strong transcription	Skeletal Muscle Female	skeletal muscle
26	chr22:30183000-30192600	Strong transcription	Primary monocytes fromperipheralblood	blood
27	chr22:30183000-30192600	Strong transcription	Monocytes-CD14+_RO01746	blood
28	chr22:30183000-30192800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr22:30183000-30193000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
30	chr22:30183000-30193000	Strong transcription	Duodenum Mucosa	Duodenum
31	chr22:30183000-30193400	Strong transcription	Osteobl	bone
32	chr22:30183000-30194000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr22:30183000-30194200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr22:30183000-30194200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
35	chr22:30183000-30194200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr22:30183000-30194400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr22:30183000-30194400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr22:30183000-30194400	Strong transcription	Rectal Mucosa Donor 31	rectum
39	chr22:30183000-30221400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
40	chr22:30183200-30192600	Strong transcription	GM12878-XiMat	blood
41	chr22:30183200-30193000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr22:30183200-30194600	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr22:30183200-30197000	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr22:30183200-30230800	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr22:30183400-30189200	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr22:30183400-30189400	Strong transcription	Lung	lung
47	chr22:30183400-30189800	Strong transcription	Primary B cells from cord blood	blood
48	chr22:30183400-30189800	Strong transcription	NHLF	lung
49	chr22:30183400-30191200	Strong transcription	Rectal Smooth Muscle	rectum
50	chr22:30183400-30191400	Strong transcription	Rectal Mucosa Donor 29	rectum

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