Variant report

Variant	rs57377970
Chromosome Location	chr1:212688778-212688779
allele	A/C
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:12)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:12 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212683483..212692182-chr1:212779770..212786326,12	K562	blood:
2	chr1:212688702..212690352-chr1:212731451..212733749,2	K562	blood:
3	chr1:212663791..212666125-chr1:212687800..212689535,2	K562	blood:
4	chr1:212686498..212689410-chr1:212730977..212733279,2	MCF-7	breast:
5	chr1:212675568..212680156-chr1:212685148..212688870,4	K562	blood:
6	chr1:212686747..212688926-chr1:212729063..212731425,2	K562	blood:
7	chr1:212663187..212667039-chr1:212686323..212689300,3	K562	blood:
8	chr1:212683483..212690052-chr1:212778903..212785088,8	K562	blood:
9	chr1:212687310..212689846-chr1:212695967..212699890,3	K562	blood:
10	chr1:212688645..212690882-chr1:212691410..212694199,2	MCF-7	breast:
11	chr1:212687346..212690563-chr1:212787177..212790270,4	K562	blood:
12	chr1:212687936..212690352-chr1:212730094..212732951,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000162772	Chromatin interaction
ENSG00000260805	Chromatin interaction
ENSG00000264590	Chromatin interaction

Extended variants
information (count: 104 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:96)

rs_ID	r²[population]
rs10157307	1.00[ASN][1000 genomes]
rs10158476	1.00[ASN][1000 genomes]
rs10158543	1.00[ASN][1000 genomes]
rs11119905	1.00[ASN][1000 genomes]
rs11119914	1.00[ASN][1000 genomes]
rs11119915	1.00[ASN][1000 genomes]
rs11804839	1.00[ASN][1000 genomes]
rs11811628	1.00[ASN][1000 genomes]
rs12062234	1.00[ASN][1000 genomes]
rs12067814	1.00[ASN][1000 genomes]
rs12069850	1.00[ASN][1000 genomes]
rs12073991	1.00[ASN][1000 genomes]
rs12076639	1.00[ASN][1000 genomes]
rs12087923	1.00[ASN][1000 genomes]
rs12738431	1.00[ASN][1000 genomes]
rs12739468	1.00[ASN][1000 genomes]
rs13374814	1.00[ASN][1000 genomes]
rs17019384	1.00[ASN][1000 genomes]
rs17042040	1.00[ASN][1000 genomes]
rs28526731	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34004542	1.00[ASN][1000 genomes]
rs351394	1.00[ASN][1000 genomes]
rs351396	1.00[ASN][1000 genomes]
rs351399	1.00[ASN][1000 genomes]
rs351402	1.00[ASN][1000 genomes]
rs35432717	1.00[ASN][1000 genomes]
rs36061296	1.00[ASN][1000 genomes]
rs376547	1.00[ASN][1000 genomes]
rs404987	1.00[ASN][1000 genomes]
rs411278	1.00[ASN][1000 genomes]
rs41314256	1.00[ASN][1000 genomes]
rs56862824	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57847431	1.00[ASN][1000 genomes]
rs58338531	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58752775	1.00[ASN][1000 genomes]
rs58876418	1.00[ASN][1000 genomes]
rs59261419	1.00[ASN][1000 genomes]
rs59344104	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59408650	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60399349	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60521851	1.00[ASN][1000 genomes]
rs61450816	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61526449	1.00[ASN][1000 genomes]
rs66534834	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658490	1.00[ASN][1000 genomes]
rs66611603	1.00[ASN][1000 genomes]
rs6666970	1.00[ASN][1000 genomes]
rs6694503	1.00[ASN][1000 genomes]
rs6697091	1.00[ASN][1000 genomes]
rs66987133	1.00[ASN][1000 genomes]
rs67410757	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67529467	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67770348	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67947916	1.00[ASN][1000 genomes]
rs68028120	1.00[ASN][1000 genomes]
rs68047079	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752370	1.00[ASN][1000 genomes]
rs72752373	1.00[ASN][1000 genomes]
rs72752376	1.00[ASN][1000 genomes]
rs72752377	1.00[ASN][1000 genomes]
rs72752384	1.00[ASN][1000 genomes]
rs72752391	1.00[ASN][1000 genomes]
rs72752396	1.00[ASN][1000 genomes]
rs72754304	1.00[ASN][1000 genomes]
rs72754308	1.00[ASN][1000 genomes]
rs72754311	1.00[ASN][1000 genomes]
rs72754313	1.00[ASN][1000 genomes]
rs72754324	1.00[ASN][1000 genomes]
rs72754335	1.00[ASN][1000 genomes]
rs72754344	1.00[ASN][1000 genomes]
rs72754346	1.00[ASN][1000 genomes]
rs72754358	1.00[ASN][1000 genomes]
rs72754374	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754375	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754384	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756307	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756315	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72756328	1.00[ASN][1000 genomes]
rs72756330	1.00[ASN][1000 genomes]
rs72756331	1.00[ASN][1000 genomes]
rs72756332	1.00[ASN][1000 genomes]
rs72756334	1.00[ASN][1000 genomes]
rs72756335	1.00[ASN][1000 genomes]
rs72756337	1.00[ASN][1000 genomes]
rs72756339	1.00[ASN][1000 genomes]
rs72756341	1.00[ASN][1000 genomes]
rs72756342	1.00[ASN][1000 genomes]
rs72756347	1.00[ASN][1000 genomes]
rs72756348	1.00[ASN][1000 genomes]
rs73073999	0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73088569	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs74138382	1.00[ASN][1000 genomes]
rs7512515	0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524087	1.00[ASN][1000 genomes]
rs7526983	1.00[ASN][1000 genomes]
rs7544944	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv549139	chr1:212332294-212876902	Flanking Active TSS Weak transcription Bivalent Enhancer Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
2	nsv1013110	chr1:212555764-212948092	Flanking Active TSS Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
3	nsv535287	chr1:212555764-212948092	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	81 gene(s)	inside rSNPs	diseases
4	nsv873162	chr1:212610755-212716033	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
5	nsv527863	chr1:212617423-212700618	Enhancers Weak transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
6	esv2757770	chr1:212648143-212843103	Flanking Active TSS Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
7	esv2758996	chr1:212648143-212843103	Enhancers Flanking Bivalent TSS/Enh Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	77 gene(s)	inside rSNPs	diseases
8	esv3347790	chr1:212687079-212689577	Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Weak transcription	Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:47 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212685200-212689000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:212687200-212688800	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
3	chr1:212687400-212688800	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
4	chr1:212687400-212688800	Flanking Active TSS	Brain Hippocampus Middle	brain
5	chr1:212687600-212688800	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
6	chr1:212687800-212688800	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
7	chr1:212687800-212688800	Enhancers	Spleen	Spleen
8	chr1:212687800-212689000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr1:212687800-212689000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
10	chr1:212687800-212691800	Weak transcription	Hela-S3	cervix
11	chr1:212687800-212692000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:212688000-212688800	Bivalent/Poised TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
13	chr1:212688000-212688800	Enhancers	Esophagus	oesophagus
14	chr1:212688000-212688800	Bivalent/Poised TSS	Fetal Brain Female	brain
15	chr1:212688000-212689000	Active TSS	Brain Inferior Temporal Lobe	brain
16	chr1:212688000-212689000	Enhancers	Placenta	Placenta
17	chr1:212688000-212690600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
18	chr1:212688000-212691800	Weak transcription	A549	lung
19	chr1:212688000-212692200	Weak transcription	Left Ventricle	heart
20	chr1:212688200-212688800	Active TSS	Primary hematopoietic stem cells	blood
21	chr1:212688200-212688800	Enhancers	Brain Substantia Nigra	brain
22	chr1:212688400-212688800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
23	chr1:212688400-212688800	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:212688400-212689000	Bivalent Enhancer	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr1:212688400-212689000	Enhancers	Brain Cingulate Gyrus	brain
26	chr1:212688400-212691800	Weak transcription	Pancreas	Pancrea
27	chr1:212688400-212692000	Weak transcription	Right Atrium	heart
28	chr1:212688400-212692200	Weak transcription	Right Ventricle	heart
29	chr1:212688600-212688800	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
30	chr1:212688600-212688800	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
31	chr1:212688600-212688800	Bivalent Enhancer	Primary T regulatory cells fromperipheralblood	blood
32	chr1:212688600-212688800	Bivalent/Poised TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:212688600-212688800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
34	chr1:212688600-212688800	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
35	chr1:212688600-212688800	Bivalent Enhancer	Fetal Intestine Small	intestine
36	chr1:212688600-212689000	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
37	chr1:212688600-212689000	Bivalent Enhancer	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:212688600-212689000	Bivalent Enhancer	Primary hematopoietic stem cells G-CSF-mobilized Female	--
39	chr1:212688600-212689000	Bivalent Enhancer	Cortex derived primary cultured neurospheres	brain
40	chr1:212688600-212689000	Flanking Active TSS	Brain Anterior Caudate	brain
41	chr1:212688600-212689000	Bivalent Enhancer	Fetal Intestine Large	intestine
42	chr1:212688600-212689000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
43	chr1:212688600-212689000	Bivalent Enhancer	Fetal Muscle Leg	muscle
44	chr1:212688600-212689200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr1:212688600-212689200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
46	chr1:212688600-212689200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
47	chr1:212688600-212699400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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