Variant report

Variant	rs11119756
Chromosome Location	chr1:211688525-211688526
allele	A/C
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	chr1:211308404..211309008-chr1:211688429..211689242,2	K562	blood:
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	chr1:211688371..211691980-chr1:211692436..211695699,4	K562	blood:
9	chr1:211688497..211689073-chr1:211798450..211799183,2	MCF-7	breast:
10	chr1:210545651..210547730-chr1:211687233..211688990,2	K562	blood:
11	chr1:211687762..211689998-chr1:211828619..211830675,2	K562	blood:
12	chr1:211687040..211689418-chr1:211828191..211829226,19	K562	blood:
13	chr1:211687336..211689241-chr1:211725322..211726983,2	MCF-7	breast:
14	chr1:211670282..211671947-chr1:211688401..211690646,2	K562	blood:
15	chr1:211687643..211690440-chr1:211826057..211828065,2	MCF-7	breast:
16	chr1:211687930..211690976-chr1:211698757..211702069,3	K562	blood:
17	chr1:211687723..211692261-chr1:211692405..211697712,7	MCF-7	breast:
18	chr1:211686791..211692090-chr1:211692436..211697358,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117625	Chromatin interaction
ENSG00000170385	Chromatin interaction
ENSG00000153363	Chromatin interaction
ENSG00000200972	Chromatin interaction
ENSG00000228792	Chromatin interaction
ENSG00000222080	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	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10863901	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10863902	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs10863903	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10863904	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10863906	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10863909	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10863910	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10863912	0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs10863913	0.82[AMR][1000 genomes];0.85[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10863914	0.93[AFR][1000 genomes];0.95[AMR][1000 genomes];0.98[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11576596	0.90[AFR][1000 genomes];0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12564861	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2358241	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4279907	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4287239	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4576708	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6540685	0.81[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs753646	0.82[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs876649	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];0.81[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:86 , 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	chr1:211686600-211691000	Enhancers	Stomach Mucosa	stomach
5	chr1:211686800-211689000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr1:211687000-211688600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr1:211687000-211688600	Enhancers	K562	blood
8	chr1:211687200-211688600	Enhancers	Primary hematopoietic stem cells short term culture	blood
9	chr1:211687200-211688600	Enhancers	Fetal Muscle Leg	muscle
10	chr1:211687200-211688600	Enhancers	Fetal Thymus	thymus
11	chr1:211687200-211688600	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr1:211687200-211689000	Enhancers	Primary hematopoietic stem cells	blood
13	chr1:211687200-211689000	Enhancers	NH-A	brain
14	chr1:211687400-211688600	Weak transcription	H9 Cell Line	embryonic stem cell
15	chr1:211687400-211688600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
16	chr1:211687400-211688600	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr1:211687400-211688600	Enhancers	Liver	Liver
18	chr1:211687400-211688600	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr1:211687400-211688800	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:211687400-211689000	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
21	chr1:211687400-211689400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
22	chr1:211687400-211689600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
23	chr1:211687600-211688600	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr1:211687600-211688600	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
25	chr1:211687600-211688600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
26	chr1:211687600-211688600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr1:211687600-211688600	Enhancers	Adipose Nuclei	Adipose
28	chr1:211687600-211688600	Enhancers	Placenta	Placenta
29	chr1:211687600-211688600	Flanking Active TSS	A549	lung
30	chr1:211687600-211688600	Flanking Active TSS	Hela-S3	cervix
31	chr1:211687600-211688600	Weak transcription	Osteobl	bone
32	chr1:211687600-211689000	Enhancers	Primary T helper naive cells from peripheral blood	blood
33	chr1:211687600-211689600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
34	chr1:211687600-211690200	Enhancers	Sigmoid Colon	Sigmoid Colon
35	chr1:211687600-211690800	Enhancers	Spleen	Spleen
36	chr1:211687800-211688600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
37	chr1:211687800-211688600	Bivalent Enhancer	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr1:211687800-211688600	Weak transcription	Primary T cells from cord blood	blood
39	chr1:211687800-211688600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
40	chr1:211687800-211688600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:211687800-211688600	Weak transcription	Brain Cingulate Gyrus	brain
42	chr1:211687800-211688600	Weak transcription	Brain Hippocampus Middle	brain
43	chr1:211687800-211688600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
44	chr1:211687800-211688600	Enhancers	HUVEC	blood vessel
45	chr1:211687800-211688600	Weak transcription	NHDF-Ad	bronchial
46	chr1:211687800-211688800	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr1:211687800-211689000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr1:211687800-211689000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr1:211688000-211688600	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
50	chr1:211688000-211688600	Weak transcription	NHEK	skin

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