Variant report

Variant	rs1573088
Chromosome Location	chr1:224643074-224643075
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:224619496..224626224-chr1:224640836..224649586,12	K562	blood:
2	chr1:224640725..224643210-chr1:224646698..224648571,2	K562	blood:
3	chr1:224642182..224643861-chr1:225117106..225119317,2	MCF-7	breast:
4	chr1:224641326..224643104-chr1:224643904..224646218,2	MCF-7	breast:
5	chr1:224615678..224629188-chr1:224635437..224647951,56	MCF-7	breast:
6	chr1:224637202..224641034-chr1:224641889..224644811,3	K562	blood:
7	chr1:224617260..224625232-chr1:224640385..224647515,27	MCF-7	breast:
8	chr1:224636445..224639746-chr1:224642433..224645284,3	K562	blood:
9	chr1:224613670..224615210-chr1:224641405..224643090,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000162923	Chromatin interaction
ENSG00000143786	Chromatin interaction
ENSG00000185842	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10799575	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs1539205	0.91[LWK][hapmap];0.92[MKK][hapmap]
rs2405048	1.00[YRI][hapmap]
rs4233235	0.80[YRI][hapmap]
rs4357499	0.82[AFR][1000 genomes]
rs6426119	1.00[YRI][hapmap]
rs6426124	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs6426127	0.93[AFR][1000 genomes]
rs6426128	0.91[LWK][hapmap];0.92[MKK][hapmap]
rs6660212	0.91[AFR][1000 genomes]
rs6675269	0.91[LWK][hapmap];0.92[MKK][hapmap]
rs6694310	1.00[YRI][hapmap];0.91[AFR][1000 genomes]
rs7544512	0.95[AFR][1000 genomes];1.00[AMR][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	nsv8868	chr1:224383023-224752531	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv1014717	chr1:224551939-224885543	Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
3	nsv535311	chr1:224551939-224885543	Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
4	nsv1013149	chr1:224605943-224646382	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
5	nsv535312	chr1:224605943-224646382	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:224623200-224644400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr1:224623400-224644600	Weak transcription	Right Ventricle	heart
3	chr1:224623600-224644600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr1:224623600-224644600	Weak transcription	Brain Substantia Nigra	brain
5	chr1:224623800-224644400	Weak transcription	Brain Anterior Caudate	brain
6	chr1:224624000-224644000	Weak transcription	Brain Hippocampus Middle	brain
7	chr1:224624000-224644600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:224624000-224644600	Weak transcription	Brain Angular Gyrus	brain
9	chr1:224624000-224645000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
10	chr1:224624000-224645000	Weak transcription	Primary hematopoietic stem cells	blood
11	chr1:224624000-224645000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
12	chr1:224624000-224646800	Weak transcription	Primary B cells from peripheral blood	blood
13	chr1:224624800-224644000	Weak transcription	Pancreas	Pancrea
14	chr1:224624800-224644400	Weak transcription	A549	lung
15	chr1:224624800-224645000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr1:224625200-224644600	Weak transcription	GM12878-XiMat	blood
17	chr1:224625200-224645000	Weak transcription	Primary T helper cells PMA-I stimulated	--
18	chr1:224627000-224644000	Weak transcription	Placenta	Placenta
19	chr1:224627200-224644400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
20	chr1:224628200-224645000	Weak transcription	Thymus	Thymus
21	chr1:224628400-224644600	Weak transcription	Fetal Lung	lung
22	chr1:224628400-224644800	Weak transcription	Primary T helper cells fromperipheralblood	blood
23	chr1:224628400-224648800	Weak transcription	Fetal Brain Female	brain
24	chr1:224628600-224644200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:224628600-224653600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
26	chr1:224628800-224643800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr1:224629200-224644200	Weak transcription	Brain Germinal Matrix	brain
28	chr1:224629200-224644600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
29	chr1:224630800-224644600	Weak transcription	Primary T cells fromperipheralblood	blood
30	chr1:224631000-224644200	Weak transcription	Fetal Muscle Trunk	muscle
31	chr1:224631200-224644400	Weak transcription	Brain Inferior Temporal Lobe	brain
32	chr1:224635200-224643800	Weak transcription	Lung	lung
33	chr1:224635200-224644000	Weak transcription	Ovary	ovary
34	chr1:224635200-224644400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr1:224635200-224644400	Weak transcription	Left Ventricle	heart
36	chr1:224635200-224644600	Weak transcription	Aorta	Aorta
37	chr1:224635400-224644200	Weak transcription	Adipose Nuclei	Adipose
38	chr1:224635400-224644400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
39	chr1:224635400-224644400	Weak transcription	HSMMtube	muscle
40	chr1:224635400-224644400	Weak transcription	NHLF	lung
41	chr1:224635400-224644600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
42	chr1:224635600-224644400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr1:224635600-224644400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:224635600-224644400	Weak transcription	HSMM	muscle
45	chr1:224635600-224644400	Weak transcription	NHDF-Ad	bronchial
46	chr1:224635600-224644600	Weak transcription	NH-A	brain
47	chr1:224635800-224644400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr1:224635800-224644400	Weak transcription	Psoas Muscle	Psoas
49	chr1:224636000-224643800	Weak transcription	Spleen	Spleen
50	chr1:224636200-224644400	Weak transcription	Duodenum Smooth Muscle	Duodenum

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