Variant report

Variant	rs17010612
Chromosome Location	chr1:221872204-221872205
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	chr1:221866299..221869210-chr1:221870746..221875245,5	K562	blood:
2	chr1:221870433..221873311-chr1:221913801..221915774,2	K562	blood:

Variant related genes	Relation type
ENSG00000143507	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs11118831	1.00[ASN][1000 genomes]
rs12037804	1.00[JPT][hapmap]
rs1338076	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2280340	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4537559	0.98[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61820076	0.94[ASN][1000 genomes]
rs6604664	0.87[ASN][1000 genomes]
rs6604665	0.87[AFR][1000 genomes];0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6670514	0.81[CEU][hapmap]
rs7515010	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7550105	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv469786	chr1:221855871-222040335	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv482867	chr1:221855871-222040335	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv1002463	chr1:221863355-222095773	Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
4	nsv535302	chr1:221863355-222095773	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221861600-221875600	Weak transcription	Aorta	Aorta
2	chr1:221861800-221875200	Weak transcription	Left Ventricle	heart
3	chr1:221862400-221878600	Weak transcription	Primary T cells from cord blood	blood
4	chr1:221863000-221875000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr1:221863800-221888600	Weak transcription	Placenta Amnion	Placenta Amnion
6	chr1:221867600-221874000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr1:221867600-221874000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:221868800-221872800	Weak transcription	HSMMtube	muscle
9	chr1:221869400-221872800	Weak transcription	NH-A	brain
10	chr1:221869400-221875800	Weak transcription	Rectal Smooth Muscle	rectum
11	chr1:221869800-221872800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
12	chr1:221869800-221874000	Weak transcription	Fetal Muscle Trunk	muscle
13	chr1:221869800-221877600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
14	chr1:221869800-221878800	Enhancers	Primary monocytes fromperipheralblood	blood
15	chr1:221870000-221875200	Weak transcription	Primary B cells from cord blood	blood
16	chr1:221870000-221875200	Weak transcription	NHLF	lung
17	chr1:221870000-221878800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr1:221870000-221879000	Weak transcription	Placenta	Placenta
19	chr1:221870000-221885400	Weak transcription	NHEK	skin
20	chr1:221870200-221872400	Weak transcription	Osteobl	bone
21	chr1:221870200-221875000	Weak transcription	Fetal Intestine Large	intestine
22	chr1:221870200-221875600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr1:221870200-221875800	Weak transcription	Lung	lung
24	chr1:221870400-221875000	Weak transcription	Fetal Stomach	stomach
25	chr1:221870400-221878800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
26	chr1:221870600-221880600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:221870800-221875600	Enhancers	Liver	Liver
28	chr1:221870800-221878800	Weak transcription	Dnd41	blood
29	chr1:221871000-221872600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:221871000-221875000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr1:221871200-221874200	Genic enhancers	HSMM	muscle
32	chr1:221871200-221874400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
33	chr1:221871200-221885800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr1:221871400-221872600	Genic enhancers	NHDF-Ad	bronchial
35	chr1:221871400-221872800	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
36	chr1:221871400-221873600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:221871400-221875400	Genic enhancers	Primary hematopoietic stem cells short term culture	blood
38	chr1:221871400-221880800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr1:221871600-221872400	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr1:221871600-221872600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr1:221871600-221872800	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:221871600-221872800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
43	chr1:221871600-221875000	Weak transcription	HUES6 Cell Line	embryonic stem cell
44	chr1:221871800-221872400	Enhancers	Primary hematopoietic stem cells	blood
45	chr1:221871800-221875000	Weak transcription	Colon Smooth Muscle	Colon
46	chr1:221871800-221875200	Weak transcription	Adipose Nuclei	Adipose
47	chr1:221871800-221878800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr1:221872000-221872400	Strong transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:221872000-221873000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:221872000-221873000	Weak transcription	Pancreas	Pancrea

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