Variant report

Variant	rs135153
Chromosome Location	chr22:33191491-33191492
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	22:32284948-32287956..22:33190123-33206921	K562	blood:
2	22:32846948-32860159..22:33190123-33206921	K562	blood:

Variant related genes	Relation type
ENSG00000227813	Chromatin interaction
ENSG00000184459	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1018791	0.81[AMR][1000 genomes]
rs129303	0.81[AMR][1000 genomes]
rs129305	0.81[AMR][1000 genomes]
rs130290	0.87[EUR][1000 genomes]
rs130293	1.00[CEU][hapmap];1.00[GIH][hapmap];0.90[TSI][hapmap];0.96[EUR][1000 genomes]
rs130301	1.00[ASW][hapmap];0.88[TSI][hapmap]
rs130305	1.00[ASW][hapmap];0.88[TSI][hapmap]
rs130526	0.81[AMR][1000 genomes]
rs130527	1.00[ASW][hapmap];0.81[AMR][1000 genomes]
rs130528	0.81[AMR][1000 genomes]
rs130529	1.00[ASW][hapmap];1.00[MEX][hapmap];0.81[AMR][1000 genomes]
rs130544	0.86[AMR][1000 genomes];0.85[ASN][1000 genomes]
rs130547	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs130550	0.95[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs130554	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs130558	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs135026	0.92[GIH][hapmap];0.86[EUR][1000 genomes]
rs135028	1.00[ASW][hapmap];0.88[TSI][hapmap]
rs135151	0.81[AMR][1000 genomes]
rs171383	0.87[EUR][1000 genomes]
rs181425	0.92[GIH][hapmap];0.81[TSI][hapmap];0.87[EUR][1000 genomes]
rs242084	0.87[EUR][1000 genomes]
rs242087	1.00[CEU][hapmap];0.98[EUR][1000 genomes]
rs25027	0.89[EUR][1000 genomes]
rs73158312	1.00[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs80267	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.90[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061384	chr22:33165464-33191811	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS	TF binding region Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:33176800-33196600	Weak transcription	HUES48 Cell Line	embryonic stem cell
2	chr22:33177400-33192800	Weak transcription	Pancreas	Pancrea
3	chr22:33182000-33192800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr22:33182600-33195400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr22:33185200-33192600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
6	chr22:33185200-33192600	Weak transcription	Right Atrium	heart
7	chr22:33185200-33192800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr22:33185200-33197200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
9	chr22:33185800-33192400	Weak transcription	NHDF-Ad	bronchial
10	chr22:33186000-33192400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr22:33186000-33192400	Weak transcription	HSMMtube	muscle
12	chr22:33186000-33192600	Weak transcription	HSMM	muscle
13	chr22:33187600-33192800	Weak transcription	Rectal Mucosa Donor 31	rectum
14	chr22:33189200-33192400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr22:33189800-33193400	Enhancers	Fetal Muscle Leg	muscle
16	chr22:33189800-33193400	Enhancers	Fetal Stomach	stomach
17	chr22:33190000-33193200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr22:33190200-33193200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
19	chr22:33190400-33193400	Enhancers	Brain Cingulate Gyrus	brain
20	chr22:33190600-33191800	Enhancers	Fetal Muscle Trunk	muscle
21	chr22:33190600-33192800	Enhancers	Brain Hippocampus Middle	brain
22	chr22:33190600-33192800	Enhancers	Brain Inferior Temporal Lobe	brain
23	chr22:33190600-33192800	Enhancers	Brain Substantia Nigra	brain
24	chr22:33190600-33193000	Enhancers	Placenta Amnion	Placenta Amnion
25	chr22:33190600-33193400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr22:33190600-33193400	Enhancers	Fetal Thymus	thymus
27	chr22:33190600-33194000	Enhancers	Breast Myoepithelial Primary Cells	Breast
28	chr22:33190800-33191600	Enhancers	Fetal Intestine Large	intestine
29	chr22:33190800-33193000	Enhancers	Brain Angular Gyrus	brain
30	chr22:33190800-33193200	Enhancers	Placenta	Placenta
31	chr22:33190800-33193200	Enhancers	Thymus	Thymus
32	chr22:33191000-33193800	Enhancers	HepG2	liver
33	chr22:33191200-33191600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
34	chr22:33191200-33192400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr22:33191200-33192600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr22:33191200-33192800	Weak transcription	NH-A	brain
37	chr22:33191200-33193400	Enhancers	Brain Anterior Caudate	brain
38	chr22:33191200-33193800	Enhancers	Osteobl	bone
39	chr22:33191400-33191600	Enhancers	Adipose Nuclei	Adipose
40	chr22:33191400-33191600	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr22:33191400-33191600	Enhancers	Right Ventricle	heart
42	chr22:33191400-33192400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr22:33191400-33192400	Weak transcription	Spleen	Spleen
44	chr22:33191400-33192600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
45	chr22:33191400-33197000	Weak transcription	Fetal Intestine Small	intestine

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