Variant report

Variant	rs351399
Chromosome Location	chr1:212465109-212465110
allele	C/G
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:212246786..212247334-chr1:212464589..212465537,2	MCF-7	breast:
2	chr1:212464233..212466790-chr1:212482649..212484293,2	K562	blood:
3	chr1:212464978..212469431-chr1:212471345..212474474,8	K562	blood:
4	chr1:212244030..212244967-chr1:212464567..212465438,3	MCF-7	breast:
5	chr1:212243786..212244527-chr1:212464644..212465359,2	MCF-7	breast:
6	chr1:212311478..212312183-chr1:212464622..212465414,3	MCF-7	breast:
7	chr1:212243775..212244788-chr1:212464563..212465496,5	K562	blood:
8	chr1:212206484..212209401-chr1:212463346..212466333,2	K562	blood:
9	chr1:212241980..212244693-chr1:212464884..212466569,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143476	Chromatin interaction
ENSG00000143493	Chromatin interaction
ENSG00000225338	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:85)

rs_ID	r²[population]
rs11119889	1.00[CEU][hapmap];0.90[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119896	1.00[CEU][hapmap];0.82[TSI][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119905	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119914	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119915	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11119930	0.87[CEU][hapmap]
rs11804839	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12060363	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs12062234	1.00[ASN][1000 genomes]
rs12067814	1.00[ASN][1000 genomes]
rs12069850	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12073991	1.00[CEU][hapmap];1.00[TSI][hapmap];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12076639	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12081752	0.82[CEU][hapmap];1.00[ASN][1000 genomes]
rs12082507	0.85[CEU][hapmap];0.90[TSI][hapmap];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12084885	1.00[ASN][1000 genomes]
rs12087923	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13374814	1.00[ASN][1000 genomes]
rs17018845	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17018933	1.00[CEU][hapmap];1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs17042040	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2492748	1.00[MKK][hapmap];0.86[YRI][hapmap]
rs351394	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351396	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs351409	1.00[EUR][1000 genomes]
rs376547	0.96[AFR][1000 genomes];0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs404987	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs411278	1.00[CEU][hapmap];1.00[TSI][hapmap];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56862824	1.00[ASN][1000 genomes]
rs57056017	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57377970	1.00[ASN][1000 genomes]
rs57737965	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs58338531	1.00[ASN][1000 genomes]
rs59344104	1.00[ASN][1000 genomes]
rs59408650	1.00[ASN][1000 genomes]
rs60399349	1.00[ASN][1000 genomes]
rs61450816	1.00[ASN][1000 genomes]
rs66522154	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6658490	1.00[CEU][hapmap];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66611603	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6666970	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66832725	1.00[ASN][1000 genomes]
rs6694503	1.00[ASN][1000 genomes]
rs6697091	1.00[ASN][1000 genomes]
rs66987133	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67053561	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67410757	1.00[ASN][1000 genomes]
rs67770348	1.00[ASN][1000 genomes]
rs67947916	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68047079	1.00[ASN][1000 genomes]
rs72752328	1.00[ASN][1000 genomes]
rs72752361	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752367	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752370	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752373	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752376	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752377	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752384	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752391	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72752396	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754304	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754308	1.00[ASN][1000 genomes]
rs72754311	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754313	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72754324	0.86[EUR][1000 genomes];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[ASN][1000 genomes]
rs72754375	1.00[ASN][1000 genomes]
rs72754384	1.00[ASN][1000 genomes]
rs73073999	1.00[ASN][1000 genomes]
rs73088569	1.00[ASN][1000 genomes]
rs7512515	1.00[ASN][1000 genomes]
rs7513727	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7519459	0.85[CEU][hapmap];1.00[ASN][1000 genomes]
rs7523303	1.00[CEU][hapmap];0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7524087	1.00[ASN][1000 genomes]
rs7526983	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7527666	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7538428	0.86[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7544944	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7549717	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999738	chr1:212218618-212513690	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv1009376	chr1:212292357-212680320	Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
3	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
4	nsv997629	chr1:212404489-212658785	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
5	nsv535286	chr1:212404489-212658785	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	esv1799093	chr1:212447167-212468974	Enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	esv1800932	chr1:212447167-212468974	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	esv1839997	chr1:212447167-212468974	Flanking Active TSS Weak transcription Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
9	nsv873155	chr1:212449195-212502157	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
10	esv1839887	chr1:212457414-212478047	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:212460200-212489200	Weak transcription	Spleen	Spleen
2	chr1:212461000-212466000	Enhancers	Colon Smooth Muscle	Colon
3	chr1:212461000-212469000	Enhancers	Brain Substantia Nigra	brain
4	chr1:212461000-212476200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr1:212461200-212466600	Enhancers	NHEK	skin
6	chr1:212461200-212467200	Enhancers	HMEC	breast
7	chr1:212461600-212465400	Enhancers	iPS-15b Cell Line	embryonic stem cell
8	chr1:212461600-212465600	Flanking Active TSS	Primary T cells from cord blood	blood
9	chr1:212461600-212468800	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr1:212461800-212470200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
11	chr1:212462000-212465200	Enhancers	Hela-S3	cervix
12	chr1:212462000-212465400	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr1:212462000-212465400	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr1:212462000-212471200	Enhancers	Primary T helper naive cells from peripheral blood	blood
15	chr1:212462200-212465400	Enhancers	Fetal Lung	lung
16	chr1:212462200-212466000	Enhancers	HepG2	liver
17	chr1:212462200-212466600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:212462200-212467200	Enhancers	Skeletal Muscle Male	skeletal muscle
19	chr1:212462200-212468800	Enhancers	Brain Anterior Caudate	brain
20	chr1:212462200-212471000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr1:212462200-212471000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
22	chr1:212462400-212466000	Enhancers	A549	lung
23	chr1:212462400-212466200	Enhancers	Duodenum Smooth Muscle	Duodenum
24	chr1:212462400-212466600	Enhancers	Primary monocytes fromperipheralblood	blood
25	chr1:212462400-212467200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr1:212462400-212469000	Enhancers	Brain Cingulate Gyrus	brain
27	chr1:212462600-212466000	Enhancers	Brain Angular Gyrus	brain
28	chr1:212462600-212471000	Enhancers	Primary T helper cells fromperipheralblood	blood
29	chr1:212462800-212465400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr1:212462800-212465800	Enhancers	Dnd41	blood
31	chr1:212462800-212466200	Enhancers	Rectal Mucosa Donor 31	rectum
32	chr1:212462800-212466200	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr1:212462800-212470000	Enhancers	Liver	Liver
34	chr1:212463000-212466200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
35	chr1:212463200-212465400	Enhancers	HUES6 Cell Line	embryonic stem cell
36	chr1:212463200-212466600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
37	chr1:212463200-212467400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr1:212463400-212465400	Enhancers	HUES48 Cell Line	embryonic stem cell
39	chr1:212463400-212465600	Enhancers	Brain Inferior Temporal Lobe	brain
40	chr1:212463400-212467200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr1:212463600-212465800	Enhancers	Rectal Mucosa Donor 29	rectum
42	chr1:212463600-212467600	Enhancers	K562	blood
43	chr1:212463600-212468800	Weak transcription	Thymus	Thymus
44	chr1:212463800-212466200	Weak transcription	Aorta	Aorta
45	chr1:212463800-212466400	Enhancers	Primary T killer memory cells from peripheral blood	blood
46	chr1:212463800-212471000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
47	chr1:212463800-212471000	Enhancers	Primary T helper cells PMA-I stimulated	--
48	chr1:212464200-212465200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr1:212464200-212465200	Enhancers	Right Ventricle	heart
50	chr1:212464200-212465200	Enhancers	Small Intestine	intestine

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