Variant report

Variant	rs2695243
Chromosome Location	chr1:226593141-226593142
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226567771..226569428-chr1:226590469..226593276,2	K562	blood:
2	chr1:226531598..226533336-chr1:226591316..226594076,2	K562	blood:
3	chr1:226496580..226498654-chr1:226591150..226594803,3	K562	blood:
4	chr1:226588622..226590477-chr1:226592586..226594961,2	MCF-7	breast:
5	chr1:226590355..226593219-chr1:226593428..226595766,4	MCF-7	breast:
6	chr1:226540281..226542178-chr1:226593012..226594671,2	K562	blood:
7	chr1:226592235..226594513-chr1:226597693..226600079,2	K562	blood:
8	chr1:226572606..226574400-chr1:226591319..226593276,2	MCF-7	breast:
9	chr1:226372716..226374922-chr1:226591836..226595402,4	K562	blood:

No data

Variant related genes	Relation type
ENSG00000270287	Chromatin interaction
ENSG00000143799	Chromatin interaction
ENSG00000182827	Chromatin interaction
ENSG00000183814	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs1136410	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12143101	0.84[AMR][1000 genomes];0.90[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1317170	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1433574	0.94[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs1527363	0.87[AMR][1000 genomes]
rs1527365	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1805404	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805411	0.90[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805415	0.92[AFR][1000 genomes];0.90[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1891107	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs1891108	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2027440	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2039925	0.88[AMR][1000 genomes]
rs2048425	0.93[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2117114	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2249731	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2255403	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2271349	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2377312	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2570367	0.95[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2695242	1.00[AFR][1000 genomes];0.99[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793379	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2793381	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2793658	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3219065	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs3219082	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3219104	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4653728	0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs4653729	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs56033994	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs752307	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs752309	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs892348	0.98[ASN][1000 genomes]
rs907187	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907188	0.80[AMR][1000 genomes]
rs907190	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs907191	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs907192	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs907193	0.90[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs932002	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9943081	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.82[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	nsv832770	chr1:226465130-226655512	Strong transcription Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	nsv832781	chr1:226570901-226750697	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226589600-226593200	Enhancers	Brain Hippocampus Middle	brain
2	chr1:226589800-226594000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:226589800-226594000	Enhancers	Right Atrium	heart
4	chr1:226590000-226593800	Weak transcription	Primary neutrophils fromperipheralblood	blood
5	chr1:226590000-226593800	Enhancers	Right Ventricle	heart
6	chr1:226590000-226594000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr1:226590200-226593200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
8	chr1:226590200-226594000	Enhancers	Placenta	Placenta
9	chr1:226590200-226594000	Enhancers	Left Ventricle	heart
10	chr1:226590200-226594000	Enhancers	Pancreas	Pancrea
11	chr1:226590200-226594200	Enhancers	Psoas Muscle	Psoas
12	chr1:226590400-226593200	Enhancers	Brain Anterior Caudate	brain
13	chr1:226590400-226594000	Weak transcription	Aorta	Aorta
14	chr1:226590400-226594000	Enhancers	Ovary	ovary
15	chr1:226590400-226594200	Weak transcription	Rectal Mucosa Donor 31	rectum
16	chr1:226590600-226593400	Enhancers	Duodenum Smooth Muscle	Duodenum
17	chr1:226590600-226594000	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr1:226590600-226594000	Enhancers	Brain Cingulate Gyrus	brain
19	chr1:226590600-226594000	Enhancers	Fetal Muscle Leg	muscle
20	chr1:226590600-226594000	Weak transcription	Thymus	Thymus
21	chr1:226590600-226594400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr1:226590800-226593400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
23	chr1:226590800-226593400	Genic enhancers	Fetal Stomach	stomach
24	chr1:226590800-226593400	Enhancers	HSMMtube	muscle
25	chr1:226590800-226593800	Enhancers	Fetal Heart	heart
26	chr1:226590800-226594000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr1:226590800-226594000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr1:226590800-226594200	Enhancers	Skeletal Muscle Female	skeletal muscle
29	chr1:226590800-226594400	Enhancers	Spleen	Spleen
30	chr1:226590800-226594800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:226591000-226593800	Enhancers	Primary T helper cells fromperipheralblood	blood
32	chr1:226591000-226593800	Enhancers	A549	lung
33	chr1:226591000-226594200	Enhancers	Fetal Thymus	thymus
34	chr1:226591200-226593200	Enhancers	Primary hematopoietic stem cells	blood
35	chr1:226591200-226593600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
36	chr1:226591200-226593800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:226591200-226593800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr1:226591200-226593800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr1:226591200-226594000	Enhancers	Primary T helper naive cells from peripheral blood	blood
40	chr1:226591200-226594000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
41	chr1:226591200-226594000	Enhancers	Primary T killer memory cells from peripheral blood	blood
42	chr1:226591200-226594000	Enhancers	Adipose Nuclei	Adipose
43	chr1:226591200-226594200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
44	chr1:226591200-226595000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr1:226591400-226593200	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr1:226591400-226593200	Enhancers	Muscle Satellite Cultured Cells	--
47	chr1:226591400-226593400	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
48	chr1:226591400-226593800	Genic enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:226591400-226593800	Enhancers	NH-A	brain
50	chr1:226591400-226594000	Enhancers	Primary T helper naive cells fromperipheralblood	blood

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