Variant report

Variant	rs59948383
Chromosome Location	chr1:224011077-224011078
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:223998721..224001505-chr1:224009305..224011970,2	K562	blood:
2	chr1:224010151..224012081-chr1:224029415..224031184,2	MCF-7	breast:
3	chr1:224011037..224013548-chr1:224029939..224032384,3	MCF-7	breast:
4	chr1:224010948..224013248-chr1:224034252..224035836,2	MCF-7	breast:

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10158199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158508	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10158843	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10159010	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1153962	1.00[EUR][1000 genomes]
rs1153966	1.00[EUR][1000 genomes]
rs12025911	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12026548	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12027762	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12040996	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12047952	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1222131	1.00[EUR][1000 genomes]
rs12239402	1.00[EUR][1000 genomes]
rs12239445	1.00[EUR][1000 genomes]
rs12239678	1.00[EUR][1000 genomes]
rs13375296	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842078	1.00[EUR][1000 genomes]
rs16842173	1.00[EUR][1000 genomes]
rs16842177	1.00[EUR][1000 genomes]
rs16842201	1.00[EUR][1000 genomes]
rs16842217	1.00[EUR][1000 genomes]
rs16842234	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842259	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842291	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs16842341	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1890119	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2230082	1.00[EUR][1000 genomes]
rs28370064	1.00[EUR][1000 genomes]
rs28370079	1.00[EUR][1000 genomes]
rs28370099	1.00[EUR][1000 genomes]
rs28370160	1.00[EUR][1000 genomes]
rs28370161	1.00[EUR][1000 genomes]
rs28370162	1.00[EUR][1000 genomes]
rs28458390	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28684725	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs41345146	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56947789	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57380389	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58753599	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59433589	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59793743	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59970447	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs61056357	1.00[EUR][1000 genomes]
rs6664674	1.00[EUR][1000 genomes]
rs73114413	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73122500	1.00[EUR][1000 genomes]
rs73125398	0.91[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs73127405	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73127411	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73127438	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73127450	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs747811	1.00[EUR][1000 genomes]
rs7515215	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9286986	1.00[EUR][1000 genomes]
rs9970756	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3361888	chr1:223725597-224114846	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
2	nsv1007380	chr1:223834380-224042190	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
3	nsv535310	chr1:223834380-224042190	ZNF genes & repeats Enhancers Weak transcription Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	esv34082	chr1:223851018-224144509	Enhancers Genic enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	nsv1008800	chr1:223904653-224061032	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	esv2757772	chr1:223935220-224363163	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	esv2759000	chr1:223935220-224363163	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223960200-224025400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr1:223988200-224012000	Weak transcription	Colon Smooth Muscle	Colon
3	chr1:224002000-224015000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:224002000-224023800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:224002200-224013000	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr1:224002200-224020200	Weak transcription	Placenta	Placenta
7	chr1:224002200-224020200	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:224002400-224013600	Weak transcription	Esophagus	oesophagus
9	chr1:224003400-224013200	Weak transcription	HepG2	liver
10	chr1:224003800-224013600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
11	chr1:224003800-224014800	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:224004000-224012000	Weak transcription	Right Ventricle	heart
13	chr1:224004200-224014800	Weak transcription	HMEC	breast
14	chr1:224007000-224024000	Weak transcription	Fetal Intestine Small	intestine
15	chr1:224007400-224015200	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
16	chr1:224007800-224013400	Weak transcription	Ovary	ovary
17	chr1:224007800-224020200	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:224008000-224017000	Weak transcription	Fetal Kidney	kidney
19	chr1:224008000-224019800	Weak transcription	Brain Germinal Matrix	brain
20	chr1:224008200-224019400	Weak transcription	Hela-S3	cervix
21	chr1:224008400-224011600	Enhancers	HUES6 Cell Line	embryonic stem cell
22	chr1:224008400-224011800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
23	chr1:224008600-224012400	Weak transcription	Fetal Lung	lung
24	chr1:224008600-224013400	Weak transcription	Adipose Nuclei	Adipose
25	chr1:224008600-224015000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
26	chr1:224008600-224019400	Weak transcription	A549	lung
27	chr1:224008800-224012600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr1:224008800-224013600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
29	chr1:224008800-224020200	Weak transcription	Fetal Muscle Trunk	muscle
30	chr1:224009000-224012800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr1:224009000-224013000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr1:224009000-224013000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr1:224009000-224013000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr1:224009000-224013400	Weak transcription	Duodenum Mucosa	Duodenum
35	chr1:224009000-224013400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr1:224009000-224014800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr1:224009000-224014800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
38	chr1:224009000-224018800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:224009000-224019400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr1:224009000-224019400	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr1:224009000-224020400	Weak transcription	Fetal Muscle Leg	muscle
42	chr1:224009200-224012000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr1:224009200-224012400	Weak transcription	Fetal Thymus	thymus
44	chr1:224009200-224012400	Weak transcription	Right Atrium	heart
45	chr1:224009200-224012600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
46	chr1:224009200-224013000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr1:224009200-224013000	Weak transcription	K562	blood
48	chr1:224009200-224013200	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:224009200-224013400	Weak transcription	Thymus	Thymus
50	chr1:224009200-224013600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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