Variant report

Variant	rs72749513
Chromosome Location	chr1:223901840-223901841
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:22)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:22 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:223901494..223903169-chr1:223928356..223930429,2	MCF-7	breast:
2	chr1:223884407..223886063-chr1:223901694..223904527,2	K562	blood:
3	chr1:223900203..223902153-chr1:223927273..223928993,2	K562	blood:
4	chr1:223898558..223902080-chr1:223957242..223958839,3	K562	blood:
5	chr1:223900571..223903093-chr1:223940555..223942413,2	K562	blood:
6	chr1:223887434..223890501-chr1:223901110..223904266,3	K562	blood:
7	chr1:223901364..223903173-chr1:224031869..224034439,2	K562	blood:
8	chr1:223900402..223903093-chr1:223939885..223943104,3	K562	blood:
9	chr1:223900439..223903816-chr1:223918326..223920507,3	MCF-7	breast:
10	chr1:223901725..223903941-chr1:223941728..223943865,2	MCF-7	breast:
11	chr1:223901424..223903659-chr1:224301052..224303387,3	K562	blood:
12	chr1:223900176..223902216-chr1:223970691..223973184,2	MCF-7	breast:
13	chr1:223897577..223900459-chr1:223900975..223902562,2	MCF-7	breast:
14	chr1:223897551..223903480-chr1:224031634..224036730,7	K562	blood:
15	chr1:223885961..223896993-chr1:223898177..223910405,32	MCF-7	breast:
16	chr1:223901394..223904242-chr1:223919607..223921227,2	K562	blood:
17	chr1:223899719..223902673-chr1:224516675..224518721,2	K562	blood:
18	chr1:223898558..223902031-chr1:223957339..223960421,3	K562	blood:
19	chr1:223900092..223902158-chr1:223929992..223931627,2	K562	blood:
20	chr1:223897059..223902247-chr1:223935403..223939761,6	K562	blood:
21	chr1:223901244..223903074-chr1:224621960..224624897,2	K562	blood:
22	chr1:223900420..223902460-chr1:224007560..224009954,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000143748	Chromatin interaction
ENSG00000162923	Chromatin interaction
ENSG00000162909	Chromatin interaction
ENSG00000143514	Chromatin interaction
ENSG00000143786	Chromatin interaction
ENSG00000143756	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs12130788	1.00[AFR][1000 genomes]
rs12130866	1.00[AFR][1000 genomes]
rs12132879	1.00[AFR][1000 genomes]
rs28370004	1.00[AFR][1000 genomes]
rs28370163	1.00[AFR][1000 genomes]
rs72747938	1.00[AFR][1000 genomes]
rs72747945	1.00[AFR][1000 genomes]
rs72749511	1.00[AFR][1000 genomes]
rs72749512	1.00[AFR][1000 genomes]
rs72749554	1.00[AFR][1000 genomes]
rs72749591	1.00[AFR][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	nsv832681	chr1:223698048-224002691	Strong transcription Active TSS Enhancers Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	nsv873213	chr1:223885843-223924236	Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases
7	esv3344542	chr1:223899354-223901902	Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:111 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:223899800-223902000	Active TSS	Breast Myoepithelial Primary Cells	Breast
2	chr1:223899800-223902000	Active TSS	Esophagus	oesophagus
3	chr1:223900800-223902000	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
4	chr1:223900800-223902000	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
5	chr1:223900800-223902200	Flanking Active TSS	Primary T cells fromperipheralblood	blood
6	chr1:223900800-223902200	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:223900800-223903000	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
8	chr1:223900800-223903400	Flanking Active TSS	Adipose Nuclei	Adipose
9	chr1:223900800-223903400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
10	chr1:223900800-223904400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
11	chr1:223900800-223906000	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr1:223901000-223902000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
13	chr1:223901000-223902000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
14	chr1:223901000-223902000	Flanking Active TSS	Brain Anterior Caudate	brain
15	chr1:223901000-223902000	Flanking Active TSS	Fetal Brain Male	brain
16	chr1:223901000-223902000	Flanking Active TSS	Fetal Muscle Leg	muscle
17	chr1:223901000-223902000	Flanking Active TSS	Rectal Smooth Muscle	rectum
18	chr1:223901000-223902200	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
19	chr1:223901000-223902200	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:223901000-223902200	Flanking Active TSS	Colon Smooth Muscle	Colon
21	chr1:223901000-223903400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr1:223901000-223903800	Flanking Active TSS	HUVEC	blood vessel
23	chr1:223901000-223904200	Flanking Active TSS	Stomach Smooth Muscle	stomach
24	chr1:223901000-223905200	Enhancers	Spleen	Spleen
25	chr1:223901000-223905800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
26	chr1:223901200-223902000	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
27	chr1:223901200-223902000	Flanking Active TSS	Fetal Lung	lung
28	chr1:223901200-223902200	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr1:223901200-223902200	Flanking Active TSS	Colonic Mucosa	Colon
30	chr1:223901200-223902200	Flanking Active TSS	Hela-S3	cervix
31	chr1:223901200-223902600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
32	chr1:223901200-223903400	Flanking Active TSS	Rectal Mucosa Donor 31	rectum
33	chr1:223901200-223904600	Enhancers	Small Intestine	intestine
34	chr1:223901200-223904800	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin03	Skin
35	chr1:223901200-223905400	Weak transcription	Primary hematopoietic stem cells	blood
36	chr1:223901400-223902000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:223901400-223902000	Flanking Bivalent TSS/Enh	HUES6 Cell Line	embryonic stem cell
38	chr1:223901400-223902000	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr1:223901400-223902000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr1:223901400-223902000	Enhancers	Liver	Liver
41	chr1:223901400-223902000	Flanking Active TSS	Psoas Muscle	Psoas
42	chr1:223901400-223902000	Flanking Active TSS	Right Ventricle	heart
43	chr1:223901400-223902000	Flanking Active TSS	Stomach Mucosa	stomach
44	chr1:223901400-223902200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
45	chr1:223901400-223902400	Transcr. at gene 5' and 3'	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr1:223901400-223904400	Transcr. at gene 5' and 3'	NHLF	lung
47	chr1:223901400-223904800	Transcr. at gene 5' and 3'	Muscle Satellite Cultured Cells	--
48	chr1:223901400-223905600	Transcr. at gene 5' and 3'	Foreskin Keratinocyte Primary Cells skin02	Skin
49	chr1:223901400-223907600	Transcr. at gene 5' and 3'	A549	lung
50	chr1:223901600-223902000	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived

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