Variant report

Variant	rs1894457
Chromosome Location	chr22:33191344-33191345
allele	A/G
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: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1005662	1.00[EUR][1000 genomes]
rs1005663	1.00[EUR][1000 genomes]
rs1005664	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs10212070	0.91[LWK][hapmap];0.86[MKK][hapmap]
rs10222253	1.00[CEU][hapmap];0.84[MKK][hapmap]
rs11089597	1.00[CEU][hapmap]
rs1119511	1.00[CEU][hapmap]
rs1119512	1.00[CEU][hapmap]
rs11912124	1.00[AMR][1000 genomes]
rs11914041	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12160339	1.00[CEU][hapmap]
rs12167310	1.00[CEU][hapmap]
rs12170307	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs130534	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13340090	1.00[CEU][hapmap]
rs1365835	1.00[EUR][1000 genomes]
rs16985304	1.00[CEU][hapmap]
rs16991203	1.00[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16991580	1.00[CEU][hapmap];0.84[MKK][hapmap]
rs5754327	1.00[CEU][hapmap]
rs5998549	1.00[CEU][hapmap]
rs5998651	1.00[CEU][hapmap]
rs5998653	1.00[CEU][hapmap]
rs5998658	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7290885	1.00[TSI][hapmap]
rs7511209	1.00[CEU][hapmap]
rs8140502	1.00[CEU][hapmap]
rs9619309	1.00[CEU][hapmap];0.91[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9619310	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9619322	1.00[CEU][hapmap];1.00[TSI][hapmap]
rs9621551	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9621561	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9621566	0.86[ASW][hapmap];1.00[CEU][hapmap];0.88[LWK][hapmap];0.85[YRI][hapmap];0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9621570	0.84[AFR][1000 genomes]
rs9621578	1.00[CEU][hapmap]
rs9621599	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9621600	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9621606	1.00[CEU][hapmap]
rs9621608	1.00[CEU][hapmap]
rs9621609	1.00[CEU][hapmap]
rs9621610	1.00[CEU][hapmap]
rs9621615	1.00[CEU][hapmap]

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	chr22:33185400-33191400	Weak transcription	Right Ventricle	heart
10	chr22:33185800-33192400	Weak transcription	NHDF-Ad	bronchial
11	chr22:33186000-33191400	Weak transcription	Adipose Nuclei	Adipose
12	chr22:33186000-33192400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
13	chr22:33186000-33192400	Weak transcription	HSMMtube	muscle
14	chr22:33186000-33192600	Weak transcription	HSMM	muscle
15	chr22:33187600-33192800	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr22:33189200-33192400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr22:33189800-33193400	Enhancers	Fetal Muscle Leg	muscle
18	chr22:33189800-33193400	Enhancers	Fetal Stomach	stomach
19	chr22:33190000-33193200	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr22:33190200-33193200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr22:33190400-33191400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
22	chr22:33190400-33193400	Enhancers	Brain Cingulate Gyrus	brain
23	chr22:33190600-33191400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
24	chr22:33190600-33191400	Enhancers	Fetal Intestine Small	intestine
25	chr22:33190600-33191800	Enhancers	Fetal Muscle Trunk	muscle
26	chr22:33190600-33192800	Enhancers	Brain Hippocampus Middle	brain
27	chr22:33190600-33192800	Enhancers	Brain Inferior Temporal Lobe	brain
28	chr22:33190600-33192800	Enhancers	Brain Substantia Nigra	brain
29	chr22:33190600-33193000	Enhancers	Placenta Amnion	Placenta Amnion
30	chr22:33190600-33193400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr22:33190600-33193400	Enhancers	Fetal Thymus	thymus
32	chr22:33190600-33194000	Enhancers	Breast Myoepithelial Primary Cells	Breast
33	chr22:33190800-33191400	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr22:33190800-33191600	Enhancers	Fetal Intestine Large	intestine
35	chr22:33190800-33193000	Enhancers	Brain Angular Gyrus	brain
36	chr22:33190800-33193200	Enhancers	Placenta	Placenta
37	chr22:33190800-33193200	Enhancers	Thymus	Thymus
38	chr22:33191000-33193800	Enhancers	HepG2	liver
39	chr22:33191200-33191400	Enhancers	iPS-15b Cell Line	embryonic stem cell
40	chr22:33191200-33191600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr22:33191200-33192400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr22:33191200-33192600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
43	chr22:33191200-33192800	Weak transcription	NH-A	brain
44	chr22:33191200-33193400	Enhancers	Brain Anterior Caudate	brain
45	chr22:33191200-33193800	Enhancers	Osteobl	bone

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