Variant report

Variant	rs9441877
Chromosome Location	chr1:222003560-222003561
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	chr1:221997029..221999114-chr1:222001553..222003989,2	K562	blood:
2	chr1:222002904..222005869-chr1:222041266..222043979,2	MCF-7	breast:

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs11577677	0.85[AFR][1000 genomes];0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11590053	0.85[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17010889	0.89[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3010850	0.87[EUR][1000 genomes]
rs4418610	0.88[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs4528124	0.82[JPT][hapmap]
rs4551601	0.81[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4639769	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61825191	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs61825193	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61825195	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7514382	0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7515604	0.94[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519761	0.82[JPT][hapmap]
rs7544656	0.89[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9441974	0.90[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9441979	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][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	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
5	nsv873201	chr1:221956626-222007535	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:221967400-222009800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr1:221999400-222004200	Enhancers	HUVEC	blood vessel
3	chr1:222000000-222004200	Enhancers	Primary T helper naive cells from peripheral blood	blood
4	chr1:222000000-222004200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:222000000-222010200	Enhancers	HMEC	breast
6	chr1:222000200-222003600	Enhancers	Primary T helper cells fromperipheralblood	blood
7	chr1:222000600-222003600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
8	chr1:222000600-222019000	Weak transcription	Lung	lung
9	chr1:222000800-222005400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
10	chr1:222000800-222005600	Weak transcription	Esophagus	oesophagus
11	chr1:222000800-222005600	Weak transcription	Skeletal Muscle Female	skeletal muscle
12	chr1:222000800-222008000	Weak transcription	Psoas Muscle	Psoas
13	chr1:222000800-222009800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:222000800-222011000	Weak transcription	Thymus	Thymus
15	chr1:222001200-222011000	Weak transcription	Fetal Thymus	thymus
16	chr1:222001400-222004200	Enhancers	Hela-S3	cervix
17	chr1:222001400-222005000	Weak transcription	Fetal Heart	heart
18	chr1:222001400-222008600	Enhancers	NHEK	skin
19	chr1:222001800-222004200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
20	chr1:222001800-222004600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
21	chr1:222001800-222004800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr1:222001800-222009400	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr1:222002000-222004400	Enhancers	Primary T cells fromperipheralblood	blood
24	chr1:222002200-222004200	Enhancers	NH-A	brain
25	chr1:222002400-222003600	Enhancers	Primary hematopoietic stem cells short term culture	blood
26	chr1:222002400-222004000	Enhancers	Primary T helper cells PMA-I stimulated	--
27	chr1:222002400-222004000	Enhancers	NHDF-Ad	bronchial
28	chr1:222002400-222004000	Enhancers	Osteobl	bone
29	chr1:222002400-222004200	Enhancers	Muscle Satellite Cultured Cells	--
30	chr1:222002400-222004200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:222002400-222004200	Enhancers	HSMM	muscle
32	chr1:222002400-222004400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
33	chr1:222002400-222004400	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr1:222002400-222008400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr1:222002600-222004000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
36	chr1:222002600-222004000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr1:222002600-222004000	Enhancers	A549	lung
38	chr1:222002600-222004000	Enhancers	NHLF	lung
39	chr1:222002800-222003600	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:222003000-222003800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr1:222003000-222008000	Weak transcription	HUES6 Cell Line	embryonic stem cell
42	chr1:222003200-222003600	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr1:222003200-222004000	Enhancers	Primary T regulatory cells fromperipheralblood	blood
44	chr1:222003200-222004000	Enhancers	HSMMtube	muscle
45	chr1:222003200-222007800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:222003200-222008000	Weak transcription	HUES48 Cell Line	embryonic stem cell
47	chr1:222003400-222003600	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
48	chr1:222003400-222003800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
49	chr1:222003400-222004000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr1:222003400-222005200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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