Variant report

Variant	rs72890576
Chromosome Location	chr1:45814007-45814008
allele	C/T
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	chr1:45769536..45771577-chr1:45812790..45815177,2	K562	blood:
2	chr1:45475941..45478297-chr1:45813885..45816135,2	K562	blood:
3	chr1:45478794..45481756-chr1:45811013..45814397,3	K562	blood:
4	chr1:45813567..45816269-chr1:45828110..45830975,4	K562	blood:
5	chr1:45769560..45771577-chr1:45812920..45815177,2	K562	blood:
6	chr1:45813460..45816251-chr1:45955172..45957736,3	MCF-7	breast:
7	chr1:45813588..45815184-chr1:45986988..45988568,2	K562	blood:
8	chr1:45812595..45814836-chr1:46042720..46044656,2	K562	blood:
9	chr1:45259473..45261876-chr1:45813673..45815846,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000126107	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000070759	Chromatin interaction
ENSG00000126088	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1007005	1.00[AMR][1000 genomes]
rs1561794	1.00[AMR][1000 genomes]
rs1892476	1.00[AMR][1000 genomes]
rs2211646	1.00[AMR][1000 genomes]
rs3219497	1.00[AMR][1000 genomes]
rs58600794	1.00[AMR][1000 genomes]
rs58829168	1.00[AMR][1000 genomes]
rs59089628	1.00[AMR][1000 genomes]
rs59351600	1.00[AMR][1000 genomes]
rs59975097	1.00[AMR][1000 genomes]
rs60789611	1.00[AMR][1000 genomes]
rs72890601	1.00[AMR][1000 genomes]
rs72892514	1.00[AMR][1000 genomes]
rs72892526	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv498036	chr1:45428030-46050934	Active TSS Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
2	nsv1014509	chr1:45687523-45887501	Flanking Active TSS Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
3	nsv997548	chr1:45733596-45955845	Genic enhancers Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv534942	chr1:45733596-45955845	Weak transcription Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	nsv482356	chr1:45750459-45915545	Enhancers Genic enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	esv2750837	chr1:45796115-45908263	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45806600-45821600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:45807200-45814200	Weak transcription	Fetal Brain Male	brain
3	chr1:45807200-45825800	Weak transcription	Small Intestine	intestine
4	chr1:45808800-45825600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr1:45809200-45815000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
6	chr1:45810000-45819800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:45810600-45814600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr1:45810600-45825600	Weak transcription	Fetal Kidney	kidney
9	chr1:45810800-45820800	Weak transcription	HUVEC	blood vessel
10	chr1:45811000-45814200	Weak transcription	Adipose Nuclei	Adipose
11	chr1:45811200-45820800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
12	chr1:45811200-45825600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr1:45811200-45825600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:45811200-45825600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
15	chr1:45811400-45817000	Weak transcription	HepG2	liver
16	chr1:45811400-45825800	Weak transcription	Primary T helper cells PMA-I stimulated	--
17	chr1:45811400-45825800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr1:45811600-45825800	Weak transcription	Cortex derived primary cultured neurospheres	brain
19	chr1:45811800-45814600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr1:45812000-45815200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr1:45812000-45826000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
22	chr1:45812200-45817200	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr1:45812200-45825800	Weak transcription	H1 Cell Line	embryonic stem cell
24	chr1:45812400-45814200	Weak transcription	K562	blood
25	chr1:45812400-45814400	Weak transcription	Fetal Thymus	thymus
26	chr1:45812400-45815000	Weak transcription	GM12878-XiMat	blood
27	chr1:45812400-45816200	Enhancers	Placenta	Placenta
28	chr1:45812400-45820600	Weak transcription	Primary T helper cells fromperipheralblood	blood
29	chr1:45812400-45821200	Weak transcription	Primary T cells from cord blood	blood
30	chr1:45812400-45825600	Weak transcription	Monocytes-CD14+_RO01746	blood
31	chr1:45812400-45825800	Weak transcription	HUES64 Cell Line	embryonic stem cell
32	chr1:45812600-45814200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
33	chr1:45812600-45816200	Enhancers	Hela-S3	cervix
34	chr1:45812600-45816800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
35	chr1:45812600-45817000	Weak transcription	Primary B cells from cord blood	blood
36	chr1:45812600-45817000	Weak transcription	Duodenum Mucosa	Duodenum
37	chr1:45812600-45817800	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:45812600-45819200	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr1:45812600-45819600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
40	chr1:45812600-45825600	Weak transcription	Primary monocytes fromperipheralblood	blood
41	chr1:45812600-45825800	Weak transcription	HUES48 Cell Line	embryonic stem cell
42	chr1:45812600-45825800	Weak transcription	Primary hematopoietic stem cells	blood
43	chr1:45812600-45826400	Weak transcription	Colonic Mucosa	Colon
44	chr1:45812800-45814200	Weak transcription	Brain Inferior Temporal Lobe	brain
45	chr1:45812800-45814600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr1:45812800-45814800	Weak transcription	Fetal Brain Female	brain
47	chr1:45812800-45815000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
48	chr1:45812800-45815200	Enhancers	Psoas Muscle	Psoas
49	chr1:45812800-45816800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
50	chr1:45812800-45816800	Weak transcription	Primary hematopoietic stem cells short term culture	blood

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