Variant report

Variant	rs2695242
Chromosome Location	chr1:226594038-226594039
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:226531598..226533336-chr1:226591316..226594076,2	K562	blood:
2	chr1:226496580..226498654-chr1:226591150..226594803,3	K562	blood:
3	chr1:226588622..226590477-chr1:226592586..226594961,2	MCF-7	breast:
4	chr1:226495420..226500064-chr1:226594005..226597004,6	K562	blood:
5	chr1:226311571..226313095-chr1:226593410..226595078,2	K562	blood:
6	chr1:226540281..226542178-chr1:226593012..226594671,2	K562	blood:
7	chr1:226477794..226479841-chr1:226593170..226595597,2	K562	blood:
8	chr1:226592235..226594513-chr1:226597693..226600079,2	K562	blood:
9	chr1:226372716..226374922-chr1:226591836..226595402,4	K562	blood:
10	chr1:226593987..226597015-chr1:226736474..226738189,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000183814	Chromatin interaction
ENSG00000182827	Chromatin interaction
ENSG00000203685	Chromatin interaction
ENSG00000270287	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	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12143101	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1317170	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs1433574	0.95[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs1527363	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs1527365	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs1805404	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805411	0.90[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805415	0.92[AFR][1000 genomes];0.89[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1891107	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1891108	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2027440	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2039925	0.89[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs2048425	0.92[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2117114	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2249731	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2255403	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2271349	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2377312	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs2570367	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs2695243	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];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2793381	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs2793658	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3219065	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs3219082	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3219104	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4653728	0.82[ASN][1000 genomes]
rs4653729	0.82[ASN][1000 genomes]
rs56033994	0.83[AMR][1000 genomes];0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs752307	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs752309	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs892348	0.98[ASN][1000 genomes]
rs907187	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs907188	0.82[AMR][1000 genomes]
rs907190	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs907191	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs907192	0.87[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs907193	0.89[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs932002	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9943081	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	chr1:226590200-226594200	Enhancers	Psoas Muscle	Psoas
2	chr1:226590400-226594200	Weak transcription	Rectal Mucosa Donor 31	rectum
3	chr1:226590600-226594400	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr1:226590800-226594200	Enhancers	Skeletal Muscle Female	skeletal muscle
5	chr1:226590800-226594400	Enhancers	Spleen	Spleen
6	chr1:226590800-226594800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
7	chr1:226591000-226594200	Enhancers	Fetal Thymus	thymus
8	chr1:226591200-226594200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
9	chr1:226591200-226595000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr1:226591400-226594200	Enhancers	Stomach Mucosa	stomach
11	chr1:226591400-226595200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr1:226591600-226594200	Enhancers	Sigmoid Colon	Sigmoid Colon
13	chr1:226591600-226594600	Transcr. at gene 5' and 3'	K562	blood
14	chr1:226591800-226594400	Enhancers	Lung	lung
15	chr1:226592000-226594400	Enhancers	Esophagus	oesophagus
16	chr1:226592200-226594200	Enhancers	Fetal Intestine Large	intestine
17	chr1:226592400-226594200	Enhancers	Primary monocytes fromperipheralblood	blood
18	chr1:226592600-226594400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
19	chr1:226592600-226594400	Enhancers	Gastric	stomach
20	chr1:226592600-226594800	Flanking Active TSS	Primary B cells from peripheral blood	blood
21	chr1:226592600-226595400	Flanking Active TSS	Primary B cells from cord blood	blood
22	chr1:226592600-226596200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr1:226592600-226596400	Active TSS	ES-I3 Cell Line	embryonic stem cell
24	chr1:226592800-226596400	Active TSS	HUES48 Cell Line	embryonic stem cell
25	chr1:226593000-226594800	Flanking Active TSS	Dnd41	blood
26	chr1:226593000-226595000	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
27	chr1:226593000-226595200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
28	chr1:226593000-226596400	Active TSS	HUES64 Cell Line	embryonic stem cell
29	chr1:226593200-226594200	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
30	chr1:226593200-226594200	Weak transcription	Brain Hippocampus Middle	brain
31	chr1:226593200-226594200	Weak transcription	Small Intestine	intestine
32	chr1:226593200-226594600	Flanking Active TSS	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:226593200-226594800	Flanking Active TSS	Fetal Brain Female	brain
34	chr1:226593200-226595000	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
35	chr1:226593200-226595200	Flanking Active TSS	Primary hematopoietic stem cells	blood
36	chr1:226593200-226595200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr1:226593400-226594200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr1:226593400-226594400	Enhancers	Brain Substantia Nigra	brain
39	chr1:226593400-226595000	Flanking Active TSS	Primary T cells from cord blood	blood
40	chr1:226593400-226595000	Flanking Active TSS	Hela-S3	cervix
41	chr1:226593600-226594200	Enhancers	Brain Angular Gyrus	brain
42	chr1:226593600-226594800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
43	chr1:226593600-226595200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
44	chr1:226593600-226596000	Active TSS	H1 Cell Line	embryonic stem cell
45	chr1:226593600-226596200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
46	chr1:226593800-226594200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
47	chr1:226593800-226594200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr1:226593800-226594200	Enhancers	Primary neutrophils fromperipheralblood	blood
49	chr1:226593800-226594200	Active TSS	Duodenum Smooth Muscle	Duodenum
50	chr1:226593800-226594200	Active TSS	Stomach Smooth Muscle	stomach

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