Variant report

Variant	rs7354876
Chromosome Location	chr1:211689277-211689278
allele	C/G
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:15)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:15 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:211687551..211691125-chr1:211748742..211753518,8	MCF-7	breast:
2	chr1:211688710..211689427-chr1:211828291..211829134,3	MCF-7	breast:
3	chr1:211430448..211433312-chr1:211687798..211689444,2	K562	blood:
4	chr1:211682048..211685729-chr1:211686598..211691532,5	K562	blood:
5	chr1:211431812..211433345-chr1:211687443..211689444,2	K562	blood:
6	chr1:211688371..211691980-chr1:211692436..211695699,4	K562	blood:
7	chr1:211687762..211689998-chr1:211828619..211830675,2	K562	blood:
8	chr1:211687040..211689418-chr1:211828191..211829226,19	K562	blood:
9	chr1:211670282..211671947-chr1:211688401..211690646,2	K562	blood:
10	chr1:211687643..211690440-chr1:211826057..211828065,2	MCF-7	breast:
11	chr1:211688552..211689424-chr1:211803240..211804149,2	K562	blood:
12	chr1:211687930..211690976-chr1:211698757..211702069,3	K562	blood:
13	chr1:211687723..211692261-chr1:211692405..211697712,7	MCF-7	breast:
14	chr1:211684185..211686089-chr1:211689090..211692200,3	K562	blood:
15	chr1:211686791..211692090-chr1:211692436..211697358,7	K562	blood:

No data

Variant related genes	Relation type
ENSG00000117625	Chromatin interaction
ENSG00000222080	Chromatin interaction
ENSG00000170385	Chromatin interaction

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10159027	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12057566	1.00[MEX][hapmap];0.83[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs1533220	0.82[MEX][hapmap]
rs17017668	1.00[ASW][hapmap];0.82[LWK][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs56032913	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56105820	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56197256	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59256122	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072846	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072847	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072849	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73072853	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7354818	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7355003	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7355098	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7355103	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7355184	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7355185	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7355215	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138748	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138754	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138755	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138756	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138757	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs74138758	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs74138763	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7529964	0.89[EUR][1000 genomes]
rs784380	0.82[MEX][hapmap]
rs9308420	1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][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:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:211686000-211690800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:211686600-211691000	Enhancers	Stomach Mucosa	stomach
3	chr1:211687400-211689400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
4	chr1:211687400-211689600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr1:211687600-211689600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
6	chr1:211687600-211690200	Enhancers	Sigmoid Colon	Sigmoid Colon
7	chr1:211687600-211690800	Enhancers	Spleen	Spleen
8	chr1:211688200-211689400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
9	chr1:211688200-211701200	Weak transcription	Gastric	stomach
10	chr1:211688400-211689400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
11	chr1:211688400-211689400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
12	chr1:211688400-211689400	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
13	chr1:211688400-211689400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
14	chr1:211688400-211689400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr1:211688400-211689400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
16	chr1:211688400-211689400	Flanking Active TSS	Duodenum Mucosa	Duodenum
17	chr1:211688400-211689400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
18	chr1:211688600-211689400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
19	chr1:211688600-211689400	Flanking Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr1:211688600-211689400	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
21	chr1:211688600-211689400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
22	chr1:211688600-211689400	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
23	chr1:211688600-211689400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr1:211688600-211689400	Flanking Active TSS	Adipose Nuclei	Adipose
25	chr1:211688600-211689400	Flanking Active TSS	Fetal Adrenal Gland	Adrenal Gland
26	chr1:211688600-211689400	Flanking Active TSS	Fetal Muscle Trunk	muscle
27	chr1:211688600-211689400	Flanking Active TSS	Fetal Muscle Leg	muscle
28	chr1:211688600-211689400	Flanking Active TSS	Ovary	ovary
29	chr1:211688600-211689400	Enhancers	Placenta Amnion	Placenta Amnion
30	chr1:211688600-211689400	Flanking Active TSS	Right Ventricle	heart
31	chr1:211688600-211689400	Flanking Active TSS	Stomach Smooth Muscle	stomach
32	chr1:211688600-211689400	Flanking Bivalent TSS/Enh	Dnd41	blood
33	chr1:211688600-211689400	Flanking Active TSS	HMEC	breast
34	chr1:211688600-211689400	Flanking Active TSS	K562	blood
35	chr1:211688600-211690200	Flanking Active TSS	Liver	Liver
36	chr1:211688800-211689400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:211688800-211689400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
38	chr1:211688800-211689400	Flanking Active TSS	Primary B cells from peripheral blood	blood
39	chr1:211688800-211689400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr1:211688800-211689400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:211688800-211689400	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
42	chr1:211688800-211689400	Active TSS	Duodenum Smooth Muscle	Duodenum
43	chr1:211688800-211689400	Active TSS	Esophagus	oesophagus
44	chr1:211688800-211689400	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr1:211688800-211689400	Flanking Active TSS	Pancreas	Pancrea
46	chr1:211688800-211689400	Flanking Active TSS	GM12878-XiMat	blood
47	chr1:211688800-211690200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
48	chr1:211688800-211690600	Active TSS	Rectal Smooth Muscle	rectum
49	chr1:211689000-211689400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr1:211689000-211689400	Flanking Bivalent TSS/Enh	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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