Variant report

Variant	rs131301
Chromosome Location	chr22:30185889-30185890
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30183374..30186087-chr22:30189628..30192258,4	MCF-7	breast:
2	chr22:30127476..30130014-chr22:30183535..30186061,2	MCF-7	breast:
3	chr22:30182549..30186689-chr22:30188373..30192437,4	K562	blood:
4	chr22:30181656..30186213-chr22:30190409..30196916,8	MCF-7	breast:
5	chr22:30183311..30186550-chr22:30186984..30189560,4	MCF-7	breast:
6	chr22:30185624..30189974-chr22:30192313..30194980,5	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100325	Chromatin interaction

Extended variants
information (count: 83 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:78)

rs_ID	r²[population]
rs105311	0.81[CEU][hapmap];0.87[CHB][hapmap];0.87[EUR][1000 genomes]
rs1076135	0.83[CEU][hapmap]
rs1138120	0.94[ASN][1000 genomes]
rs131260	0.82[CEU][hapmap];0.88[CHB][hapmap];0.87[EUR][1000 genomes]
rs131261	0.87[EUR][1000 genomes]
rs131262	0.88[CHB][hapmap]
rs131264	0.87[EUR][1000 genomes]
rs131265	0.88[EUR][1000 genomes]
rs131266	0.88[EUR][1000 genomes]
rs131270	0.88[EUR][1000 genomes]
rs131271	0.81[CEU][hapmap];0.87[CHB][hapmap];0.89[EUR][1000 genomes]
rs131272	0.81[CEU][hapmap];0.87[CHB][hapmap];0.89[EUR][1000 genomes]
rs131273	0.87[CHB][hapmap];0.89[EUR][1000 genomes]
rs131277	0.82[CEU][hapmap];0.88[CHB][hapmap];0.89[EUR][1000 genomes]
rs131279	0.82[CEU][hapmap];0.88[CHB][hapmap];0.89[EUR][1000 genomes]
rs131281	0.89[EUR][1000 genomes]
rs131282	0.84[CEU][hapmap];0.87[CHB][hapmap];0.82[JPT][hapmap];0.89[EUR][1000 genomes]
rs131284	0.84[CHB][hapmap]
rs131285	0.81[CEU][hapmap];0.87[CHB][hapmap];0.89[EUR][1000 genomes]
rs131286	0.89[EUR][1000 genomes]
rs131293	0.94[ASN][1000 genomes]
rs131295	0.97[ASN][1000 genomes]
rs140096	0.88[CHB][hapmap]
rs140097	0.83[CHB][hapmap]
rs140099	0.84[CHB][hapmap]
rs140100	0.88[CHB][hapmap]
rs140101	0.87[CHB][hapmap]
rs140102	0.88[CHB][hapmap];0.86[EUR][1000 genomes]
rs140103	0.86[EUR][1000 genomes]
rs140104	0.83[CHB][hapmap]
rs140106	0.84[CHB][hapmap]
rs140107	0.88[CHB][hapmap];0.86[EUR][1000 genomes]
rs140110	0.88[CHB][hapmap];0.84[EUR][1000 genomes]
rs140111	0.88[CHB][hapmap];0.84[EUR][1000 genomes]
rs140113	0.84[CHB][hapmap]
rs140114	0.83[CHB][hapmap]
rs140118	0.88[CHB][hapmap]
rs140119	0.84[CHB][hapmap]
rs140120	0.82[CEU][hapmap];0.87[CHB][hapmap];0.85[EUR][1000 genomes]
rs140121	0.82[CEU][hapmap];0.84[CHB][hapmap];0.81[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs140123	0.81[CEU][hapmap];0.87[CHB][hapmap];0.87[EUR][1000 genomes]
rs140124	0.87[CHB][hapmap]
rs140126	0.83[CHB][hapmap]
rs140128	0.84[CHB][hapmap]
rs140129	0.81[CEU][hapmap];0.87[CHB][hapmap];0.87[EUR][1000 genomes]
rs140131	0.89[EUR][1000 genomes]
rs140133	0.82[CEU][hapmap];0.87[CHB][hapmap];0.89[EUR][1000 genomes]
rs140145	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs140149	0.82[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs140150	1.00[ASN][1000 genomes]
rs17711377	0.96[ASN][1000 genomes]
rs1961926	0.93[CEU][hapmap]
rs2057882	0.97[ASN][1000 genomes]
rs2074706	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2074707	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs2079338	0.99[ASN][1000 genomes]
rs249396	0.81[EUR][1000 genomes]
rs249397	0.80[EUR][1000 genomes]
rs249398	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs28749829	0.98[ASN][1000 genomes]
rs36572	0.81[EUR][1000 genomes]
rs36574	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs36576	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs5752961	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs5752962	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs5752964	0.85[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs5763512	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs5997529	0.94[ASN][1000 genomes]
rs5997530	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs5997535	0.90[ASN][1000 genomes]
rs6006274	0.91[ASN][1000 genomes]
rs713656	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs713657	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs740041	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.99[ASN][1000 genomes]
rs7954	0.92[CEU][hapmap];0.81[EUR][1000 genomes]
rs81800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9306465	1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs9614055	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]

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	chr22:30164600-30188600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr22:30166800-30194400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
3	chr22:30167200-30187800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
4	chr22:30175400-30194000	Weak transcription	Hela-S3	cervix
5	chr22:30177000-30189000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr22:30177200-30186000	Weak transcription	Fetal Kidney	kidney
7	chr22:30177600-30233000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
8	chr22:30178400-30193000	Weak transcription	A549	lung
9	chr22:30178800-30186000	Weak transcription	K562	blood
10	chr22:30178800-30186000	Weak transcription	NH-A	brain
11	chr22:30180200-30186800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
12	chr22:30180800-30187800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr22:30181200-30188200	Weak transcription	Fetal Brain Male	brain
14	chr22:30181200-30196200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
15	chr22:30181200-30196200	Weak transcription	Fetal Heart	heart
16	chr22:30182000-30194600	Strong transcription	Sigmoid Colon	Sigmoid Colon
17	chr22:30182200-30194000	Strong transcription	Fetal Muscle Leg	muscle
18	chr22:30182200-30217000	Strong transcription	Fetal Intestine Small	intestine
19	chr22:30182200-30222200	Strong transcription	Thymus	Thymus
20	chr22:30182400-30192800	Strong transcription	Brain Hippocampus Middle	brain
21	chr22:30182600-30194800	Strong transcription	Fetal Muscle Trunk	muscle
22	chr22:30182800-30192000	Strong transcription	Skeletal Muscle Male	skeletal muscle
23	chr22:30182800-30192800	Strong transcription	Fetal Thymus	thymus
24	chr22:30182800-30194400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr22:30182800-30194600	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
26	chr22:30182800-30194600	Strong transcription	Stomach Smooth Muscle	stomach
27	chr22:30182800-30204600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr22:30182800-30204800	Strong transcription	Fetal Brain Female	brain
29	chr22:30182800-30232200	Strong transcription	Primary T cells from cord blood	blood
30	chr22:30182800-30232200	Strong transcription	Fetal Stomach	stomach
31	chr22:30183000-30188600	Strong transcription	Primary hematopoietic stem cells	blood
32	chr22:30183000-30189000	Strong transcription	HUVEC	blood vessel
33	chr22:30183000-30189800	Strong transcription	Muscle Satellite Cultured Cells	--
34	chr22:30183000-30191600	Strong transcription	Skeletal Muscle Female	skeletal muscle
35	chr22:30183000-30192600	Strong transcription	Primary monocytes fromperipheralblood	blood
36	chr22:30183000-30192600	Strong transcription	Monocytes-CD14+_RO01746	blood
37	chr22:30183000-30192800	Strong transcription	Primary B cells from peripheral blood	blood
38	chr22:30183000-30193000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
39	chr22:30183000-30193000	Strong transcription	Duodenum Mucosa	Duodenum
40	chr22:30183000-30193400	Strong transcription	Osteobl	bone
41	chr22:30183000-30194000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
42	chr22:30183000-30194200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
43	chr22:30183000-30194200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr22:30183000-30194200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr22:30183000-30194400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr22:30183000-30194400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr22:30183000-30194400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr22:30183000-30221400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr22:30183200-30186600	Strong transcription	HSMM	muscle
50	chr22:30183200-30192600	Strong transcription	GM12878-XiMat	blood

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