Variant report

Variant	rs72671996
Chromosome Location	chr1:45180896-45180897
allele	G/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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:45121107..45121686-chr1:45180379..45181255,2	MCF-7	breast:
2	chr1:45180400..45181292-chr1:46688862..46689451,2	K562	blood:
3	chr1:45179633..45191596-chr1:45283435..45288613,20	MCF-7	breast:
4	chr1:45086647..45106769-chr1:45179099..45192041,56	K562	blood:
5	chr1:45180843..45183457-chr1:45283985..45285901,3	MCF-7	breast:
6	chr1:45178001..45208867-chr1:45262751..45305400,520	K562	blood:
7	chr1:45179541..45182471-chr1:45202409..45206528,4	MCF-7	breast:
8	chr1:45178748..45209946-chr1:45262890..45299284,515	K562	blood:

No data

Variant related genes	Relation type
ENSG00000188396	Chromatin interaction
ENSG00000117425	Chromatin interaction
ENSG00000142945	Chromatin interaction
ENSG00000222009	Chromatin interaction
ENSG00000202444	Chromatin interaction
ENSG00000173846	Chromatin interaction
ENSG00000187147	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs3795712	0.80[EUR][1000 genomes]
rs58136390	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58532407	0.83[EUR][1000 genomes]
rs58603818	0.83[EUR][1000 genomes];0.80[ASN][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	nsv533037	chr1:44361728-45333408	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	469 gene(s)	inside rSNPs	diseases
2	nsv1004861	chr1:44843654-45210176	Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
3	nsv534940	chr1:44843654-45210176	Flanking Active TSS Enhancers Bivalent Enhancer Bivalent/Poised TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	346 gene(s)	inside rSNPs	diseases
4	nsv998476	chr1:45001278-45311757	Flanking Active TSS Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	426 gene(s)	inside rSNPs	diseases
5	nsv534941	chr1:45001278-45311757	Strong transcription Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	426 gene(s)	inside rSNPs	diseases
6	nsv1014894	chr1:45139123-45397943	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	414 gene(s)	inside rSNPs	diseases
7	nsv529677	chr1:45179509-45748571	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	424 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:45174400-45183000	Weak transcription	NHLF	lung
2	chr1:45174400-45190400	Weak transcription	Lung	lung
3	chr1:45177400-45182000	Enhancers	Primary B cells from peripheral blood	blood
4	chr1:45178000-45181600	Enhancers	Primary hematopoietic stem cells	blood
5	chr1:45178200-45181800	Weak transcription	Fetal Brain Male	brain
6	chr1:45178400-45181200	Enhancers	Primary hematopoietic stem cells short term culture	blood
7	chr1:45179000-45182000	Enhancers	Primary B cells from cord blood	blood
8	chr1:45179600-45181200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr1:45179600-45183800	Weak transcription	Rectal Mucosa Donor 31	rectum
10	chr1:45180200-45182000	Enhancers	Primary T cells fromperipheralblood	blood
11	chr1:45180400-45181000	Enhancers	Sigmoid Colon	Sigmoid Colon
12	chr1:45180400-45181200	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr1:45180400-45181200	Enhancers	Primary T cells from cord blood	blood
14	chr1:45180400-45181200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
15	chr1:45180400-45181200	Enhancers	Colon Smooth Muscle	Colon
16	chr1:45180400-45181200	Enhancers	Duodenum Mucosa	Duodenum
17	chr1:45180400-45181200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr1:45180400-45181400	Enhancers	Fetal Thymus	thymus
19	chr1:45180400-45181600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:45180400-45181800	Enhancers	Primary T helper cells fromperipheralblood	blood
21	chr1:45180400-45181800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
22	chr1:45180400-45181800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
23	chr1:45180600-45181000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
24	chr1:45180600-45181000	Enhancers	iPS-15b Cell Line	embryonic stem cell
25	chr1:45180600-45181000	Enhancers	Breast Myoepithelial Primary Cells	Breast
26	chr1:45180600-45181000	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr1:45180600-45181000	Enhancers	Brain Angular Gyrus	brain
28	chr1:45180600-45181000	Flanking Active TSS	Brain Cingulate Gyrus	brain
29	chr1:45180600-45181000	Flanking Active TSS	Brain Substantia Nigra	brain
30	chr1:45180600-45181000	Enhancers	Fetal Intestine Large	intestine
31	chr1:45180600-45181000	Enhancers	Fetal Intestine Small	intestine
32	chr1:45180600-45181000	Enhancers	Placenta	Placenta
33	chr1:45180600-45181000	Enhancers	Skeletal Muscle Male	skeletal muscle
34	chr1:45180600-45181000	Enhancers	Stomach Mucosa	stomach
35	chr1:45180600-45181000	Flanking Active TSS	Stomach Smooth Muscle	stomach
36	chr1:45180600-45181000	Flanking Active TSS	HepG2	liver
37	chr1:45180600-45181000	Enhancers	HSMM	muscle
38	chr1:45180600-45181000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
39	chr1:45180600-45181000	Enhancers	NHEK	skin
40	chr1:45180600-45181200	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:45180600-45181200	Enhancers	HUES48 Cell Line	embryonic stem cell
42	chr1:45180600-45181200	Enhancers	HUES6 Cell Line	embryonic stem cell
43	chr1:45180600-45181200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr1:45180600-45181200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr1:45180600-45181200	Enhancers	Primary neutrophils fromperipheralblood	blood
46	chr1:45180600-45181200	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
47	chr1:45180600-45181200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
48	chr1:45180600-45181200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr1:45180600-45181200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:45180600-45181200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood

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