Variant report

Variant	rs12564861
Chromosome Location	chr1:211687821-211687822
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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211687551..211691125-chr1:211748742..211753518,8	MCF-7	breast:
2	chr1:211496336..211497406-chr1:211687015..211687898,3	MCF-7	breast:
3	chr1:211687078..211689014-chr1:211816106..211819639,3	K562	blood:
4	chr1:211430448..211433312-chr1:211687798..211689444,2	K562	blood:
5	chr1:211556040..211557948-chr1:211686154..211688879,2	K562	blood:
6	chr1:211682048..211685729-chr1:211686598..211691532,5	K562	blood:
7	chr1:211431812..211433345-chr1:211687443..211689444,2	K562	blood:
8	chr1:210545651..210547730-chr1:211687233..211688990,2	K562	blood:
9	chr1:211643094..211644057-chr1:211687082..211687978,3	MCF-7	breast:
10	chr1:211687762..211689998-chr1:211828619..211830675,2	K562	blood:
11	chr1:211643131..211644087-chr1:211687087..211687982,3	K562	blood:
12	chr1:211687040..211689418-chr1:211828191..211829226,19	K562	blood:
13	chr1:211687336..211689241-chr1:211725322..211726983,2	MCF-7	breast:
14	chr1:211687643..211690440-chr1:211826057..211828065,2	MCF-7	breast:
15	chr1:211679953..211682698-chr1:211686016..211688389,2	K562	blood:
16	chr1:211687723..211692261-chr1:211692405..211697712,7	MCF-7	breast:
17	chr1:211686187..211688121-chr1:211747912..211750697,2	K562	blood:
18	chr1:211686791..211692090-chr1:211692436..211697358,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117625	Chromatin interaction
ENSG00000228792	Chromatin interaction
ENSG00000170385	Chromatin interaction
ENSG00000222080	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000153363	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10779561	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10863901	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10863902	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs10863903	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10863904	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10863906	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10863909	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10863910	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10863912	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10863913	0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10863914	0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11119756	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs11576596	0.97[AFR][1000 genomes];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2358241	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4279907	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4287239	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4576708	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6540685	0.80[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs753646	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs876649	0.81[AMR][1000 genomes];0.84[EUR][1000 genomes];0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832514	chr1:211630247-211794963	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	esv1826724	chr1:211684336-211694508	Enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:75 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211684600-211688800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
2	chr1:211684800-211688600	Enhancers	HMEC	breast
3	chr1:211686000-211690800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr1:211686400-211688200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
5	chr1:211686600-211691000	Enhancers	Stomach Mucosa	stomach
6	chr1:211686800-211688400	Enhancers	Duodenum Mucosa	Duodenum
7	chr1:211686800-211688400	Enhancers	Fetal Intestine Large	intestine
8	chr1:211686800-211689000	Enhancers	Muscle Satellite Cultured Cells	--
9	chr1:211687000-211688000	Enhancers	NHEK	skin
10	chr1:211687000-211688600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr1:211687000-211688600	Enhancers	K562	blood
12	chr1:211687200-211688000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
13	chr1:211687200-211688000	Enhancers	Stomach Smooth Muscle	stomach
14	chr1:211687200-211688200	Enhancers	Colonic Mucosa	Colon
15	chr1:211687200-211688400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
16	chr1:211687200-211688400	Enhancers	Fetal Intestine Small	intestine
17	chr1:211687200-211688600	Enhancers	Primary hematopoietic stem cells short term culture	blood
18	chr1:211687200-211688600	Enhancers	Fetal Muscle Leg	muscle
19	chr1:211687200-211688600	Enhancers	Fetal Thymus	thymus
20	chr1:211687200-211688600	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr1:211687200-211689000	Enhancers	Primary hematopoietic stem cells	blood
22	chr1:211687200-211689000	Enhancers	NH-A	brain
23	chr1:211687400-211688400	Enhancers	Primary B cells from peripheral blood	blood
24	chr1:211687400-211688400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
25	chr1:211687400-211688400	Enhancers	Primary T helper cells fromperipheralblood	blood
26	chr1:211687400-211688600	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr1:211687400-211688600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
28	chr1:211687400-211688600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:211687400-211688600	Enhancers	Liver	Liver
30	chr1:211687400-211688600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
31	chr1:211687400-211688800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:211687400-211689000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
33	chr1:211687400-211689400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
34	chr1:211687400-211689600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr1:211687600-211688000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr1:211687600-211688000	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr1:211687600-211688000	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:211687600-211688000	Flanking Active TSS	GM12878-XiMat	blood
39	chr1:211687600-211688200	Enhancers	Gastric	stomach
40	chr1:211687600-211688200	Enhancers	Rectal Mucosa Donor 29	rectum
41	chr1:211687600-211688200	Enhancers	Rectal Mucosa Donor 31	rectum
42	chr1:211687600-211688400	Enhancers	Primary T helper cells PMA-I stimulated	--
43	chr1:211687600-211688400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr1:211687600-211688600	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr1:211687600-211688600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
46	chr1:211687600-211688600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr1:211687600-211688600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr1:211687600-211688600	Enhancers	Adipose Nuclei	Adipose
49	chr1:211687600-211688600	Enhancers	Placenta	Placenta
50	chr1:211687600-211688600	Flanking Active TSS	A549	lung

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