Variant report

Variant	rs1544431
Chromosome Location	chr22:30308106-30308107
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:30303958..30305806-chr22:30307869..30310153,2	K562	blood:
2	chr22:30303040..30305497-chr22:30307951..30311073,3	MCF-7	breast:
3	chr22:30277897..30280164-chr22:30306298..30309228,2	K562	blood:

Variant related genes	Relation type
ENSG00000100330	Chromatin interaction

Extended variants
information (count: 81 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:79)

rs_ID	r²[population]
rs11549795	0.94[YRI][hapmap];0.80[EUR][1000 genomes]
rs11552852	0.84[EUR][1000 genomes]
rs1544429	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1544430	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1544433	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988025	0.82[YRI][hapmap]
rs16988120	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988143	1.00[CEU][hapmap];0.94[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988148	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs16988149	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16988244	1.00[YRI][hapmap];0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988291	0.92[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988303	0.94[YRI][hapmap];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs16988304	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs17648208	0.87[EUR][1000 genomes]
rs1807726	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2105871	1.00[CEU][hapmap];0.93[EUR][1000 genomes]
rs2107674	0.82[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2349228	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs249394	0.94[YRI][hapmap]
rs249403	0.94[YRI][hapmap];0.80[EUR][1000 genomes]
rs28265	0.89[YRI][hapmap];0.80[EUR][1000 genomes]
rs36571	0.80[EUR][1000 genomes]
rs36575	0.80[EUR][1000 genomes]
rs36577	0.80[EUR][1000 genomes]
rs36579	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36588	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36589	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36592	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36593	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36597	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs36599	1.00[CEU][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36602	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36603	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs36608	0.82[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs39713	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs41278853	0.82[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs41281623	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs41281633	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs45629133	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs4820823	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs55645000	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56332559	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs56392746	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs56406718	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs57348516	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs5752974	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5752977	0.88[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5752979	0.82[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs5763560	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5763568	0.95[AFR][1000 genomes];0.91[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5763582	0.89[EUR][1000 genomes]
rs5763595	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58162368	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs5997539	0.95[EUR][1000 genomes]
rs6006276	1.00[CEU][hapmap];0.95[EUR][1000 genomes]
rs60759987	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs6519802	1.00[YRI][hapmap]
rs6519805	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs7284365	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7284951	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7286205	1.00[YRI][hapmap];0.82[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs7286441	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7287233	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7289803	0.80[EUR][1000 genomes]
rs73392888	0.80[EUR][1000 genomes]
rs737938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883320	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs73883344	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73883349	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs73883354	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73883355	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73883359	0.90[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs73883360	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883363	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883367	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883370	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73883374	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs8141471	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:30281400-30312200	Weak transcription	Primary B cells from peripheral blood	blood
2	chr22:30282200-30310200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr22:30287000-30319600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr22:30290400-30312000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr22:30298000-30314600	Enhancers	Primary neutrophils fromperipheralblood	blood
6	chr22:30299800-30308400	Weak transcription	Primary T cells fromperipheralblood	blood
7	chr22:30299800-30308400	Weak transcription	Lung	lung
8	chr22:30302200-30308400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr22:30302200-30308400	Weak transcription	Gastric	stomach
10	chr22:30303400-30308400	Weak transcription	Fetal Muscle Trunk	muscle
11	chr22:30304000-30308400	Weak transcription	Small Intestine	intestine
12	chr22:30304000-30309000	Weak transcription	Placenta	Placenta
13	chr22:30304000-30309800	Weak transcription	Brain Germinal Matrix	brain
14	chr22:30304200-30308400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr22:30304200-30312800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr22:30304400-30308200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr22:30304400-30308200	Weak transcription	NHLF	lung
18	chr22:30304400-30308400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr22:30304400-30308400	Weak transcription	Aorta	Aorta
20	chr22:30304400-30308400	Weak transcription	Liver	Liver
21	chr22:30304400-30308400	Weak transcription	Brain Cingulate Gyrus	brain
22	chr22:30304400-30308400	Weak transcription	Fetal Stomach	stomach
23	chr22:30304400-30308600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
24	chr22:30304400-30309200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr22:30304400-30310800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr22:30304400-30312000	Weak transcription	Fetal Kidney	kidney
27	chr22:30304400-30312400	Weak transcription	Brain Hippocampus Middle	brain
28	chr22:30304400-30321000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr22:30304600-30308200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr22:30304600-30308200	Weak transcription	Muscle Satellite Cultured Cells	--
31	chr22:30304600-30308200	Weak transcription	Rectal Mucosa Donor 31	rectum
32	chr22:30304600-30308200	Weak transcription	Osteobl	bone
33	chr22:30304600-30308400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr22:30304600-30308400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr22:30304600-30308400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr22:30304600-30308400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr22:30304600-30308400	Weak transcription	Adipose Nuclei	Adipose
38	chr22:30304600-30308400	Weak transcription	GM12878-XiMat	blood
39	chr22:30304600-30308400	Weak transcription	NH-A	brain
40	chr22:30304600-30308600	Weak transcription	HUES64 Cell Line	embryonic stem cell
41	chr22:30304600-30308600	Weak transcription	Brain Angular Gyrus	brain
42	chr22:30304600-30309200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:30304600-30309400	Weak transcription	Brain Anterior Caudate	brain
44	chr22:30304600-30310000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr22:30304600-30310000	Weak transcription	Placenta Amnion	Placenta Amnion
46	chr22:30304600-30312200	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr22:30304800-30308400	Weak transcription	Fetal Lung	lung
48	chr22:30304800-30308400	Weak transcription	HSMM	muscle
49	chr22:30304800-30308800	Weak transcription	HMEC	breast
50	chr22:30304800-30308800	Weak transcription	NHEK	skin

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