Variant report

Variant	rs12048283
Chromosome Location	chr1:228446145-228446146
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	chr1:228445781..228449688-chr1:228450143..228453415,4	K562	blood:

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs10916296	0.93[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12022027	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12022323	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12023522	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12023551	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12024329	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12024368	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12025837	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12026579	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12028729	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12028894	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12029540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12029981	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12030528	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12031017	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12031390	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12031747	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12032850	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12032905	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12033588	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12033624	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12034508	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12036437	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12036485	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12037417	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12037423	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12037964	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs12038090	1.00[AMR][1000 genomes]
rs12038612	0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12039528	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12040123	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12040394	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12040506	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs12041411	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12042084	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12043464	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12044918	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs12044962	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12049152	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs12049530	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12120597	1.00[AFR][1000 genomes]
rs2291999	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes]
rs2298013	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs28603121	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs3754358	1.00[AFR][1000 genomes];0.85[AMR][1000 genomes]
rs55760713	1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs55946300	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56384735	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6693343	0.82[AMR][1000 genomes]
rs74144612	0.87[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv32853	chr1:227880116-228806209	Enhancers Genic enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
2	nsv826908	chr1:227895386-228691100	Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	157 gene(s)	inside rSNPs	diseases
3	nsv523935	chr1:228038124-228681749	Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription Weak transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	137 gene(s)	inside rSNPs	diseases
4	nsv873253	chr1:228231601-228537942	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
5	nsv873254	chr1:228231601-228543800	Weak transcription Genic enhancers Active TSS Enhancers Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	91 gene(s)	inside rSNPs	diseases
6	nsv873255	chr1:228254753-228684779	Genic enhancers ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	133 gene(s)	inside rSNPs	diseases
7	nsv827019	chr1:228314167-228651020	Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	106 gene(s)	inside rSNPs	diseases
8	nsv1012078	chr1:228340876-228521843	Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
9	nsv535320	chr1:228340876-228521843	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	63 gene(s)	inside rSNPs	diseases
10	nsv873263	chr1:228391808-228494790	Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Strong transcription Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
11	nsv873264	chr1:228423647-228543800	Flanking Active TSS Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
12	nsv520340	chr1:228423936-228456147	Strong transcription ZNF genes & repeats Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	10 gene(s)	inside rSNPs	diseases
13	nsv873265	chr1:228434395-228525008	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv873266	chr1:228434395-228537942	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
15	nsv873267	chr1:228434395-228585837	Flanking Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
16	nsv873268	chr1:228442663-228537942	Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
17	nsv873269	chr1:228442663-228543800	Strong transcription ZNF genes & repeats Weak transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
18	nsv873270	chr1:228442663-228699477	Flanking Active TSS Weak transcription Strong transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	66 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:228430600-228447000	Weak transcription	Stomach Smooth Muscle	stomach
2	chr1:228433400-228449400	Weak transcription	Brain Anterior Caudate	brain
3	chr1:228434600-228455400	Weak transcription	Duodenum Smooth Muscle	Duodenum
4	chr1:228434800-228460000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:228434800-228462400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
6	chr1:228435200-228449400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:228435200-228449600	Strong transcription	Primary T cells from cord blood	blood
8	chr1:228435200-228462800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr1:228435600-228462600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
10	chr1:228435800-228446400	Weak transcription	Fetal Heart	heart
11	chr1:228435800-228450200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr1:228436800-228447000	Weak transcription	Psoas Muscle	Psoas
13	chr1:228437000-228455600	Weak transcription	Hela-S3	cervix
14	chr1:228438400-228447000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr1:228438400-228455600	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr1:228439200-228449400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr1:228439800-228448800	Weak transcription	Primary T cells fromperipheralblood	blood
18	chr1:228440200-228447000	Weak transcription	Right Atrium	heart
19	chr1:228441200-228450400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:228442600-228448200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:228443000-228449200	Strong transcription	Right Ventricle	heart
22	chr1:228443000-228449400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
23	chr1:228443200-228454800	Strong transcription	Left Ventricle	heart
24	chr1:228443400-228446200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr1:228443400-228446200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr1:228443400-228447000	Strong transcription	Fetal Lung	lung
27	chr1:228443400-228447000	Strong transcription	Thymus	Thymus
28	chr1:228443400-228448000	ZNF genes & repeats	Fetal Stomach	stomach
29	chr1:228443400-228449200	ZNF genes & repeats	Fetal Intestine Small	intestine
30	chr1:228443400-228449400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr1:228443400-228449800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr1:228443600-228462800	Weak transcription	Fetal Kidney	kidney
33	chr1:228443800-228447400	ZNF genes & repeats	Brain Germinal Matrix	brain
34	chr1:228443800-228449000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:228444000-228448000	Strong transcription	HSMMtube	muscle
36	chr1:228444000-228461400	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:228444200-228447000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:228444200-228461600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:228444400-228447000	Weak transcription	Ovary	ovary
40	chr1:228444400-228450000	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
41	chr1:228444600-228447000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr1:228444600-228447200	Weak transcription	Fetal Intestine Large	intestine
43	chr1:228444600-228450000	ZNF genes & repeats	Dnd41	blood
44	chr1:228444800-228447000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr1:228444800-228454200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr1:228444800-228462800	Weak transcription	Fetal Thymus	thymus
47	chr1:228445000-228446800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
48	chr1:228445000-228446800	Weak transcription	Esophagus	oesophagus
49	chr1:228445000-228446800	Weak transcription	Pancreas	Pancrea
50	chr1:228445000-228447000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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