Variant report

Variant	rs907187
Chromosome Location	chr1:226595647-226595648
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: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	chr1:226595268..226596169-chr20:48807128..48807956,2	NB4	blood:
2	chr1:226495420..226500064-chr1:226594005..226597004,6	K562	blood:
3	chr1:226496316..226500064-chr1:226594874..226597502,3	K562	blood:
4	chr1:226595064..226597397-chr1:226599345..226601411,3	MCF-7	breast:
5	chr1:226595252..226595831-chr17:49243543..49244152,2	HCT-116	colon:
6	chr1:226594983..226596955-chr1:227126462..227129196,3	K562	blood:
7	chr1:226594724..226598216-chr1:226599325..226601512,4	K562	blood:
8	chr1:226595397..226597205-chr1:226598712..226600221,2	MCF-7	breast:
9	chr1:226593987..226597015-chr1:226736474..226738189,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000243678	Chromatin interaction
ENSG00000172216	Chromatin interaction
ENSG00000270287	Chromatin interaction
ENSG00000163050	Chromatin interaction
ENSG00000183814	Chromatin interaction
ENSG00000203685	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	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12143101	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1317170	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs1433574	0.98[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs1527363	0.88[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs1527365	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs1805404	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1805411	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1805415	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1891107	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs1891108	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2027440	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2039925	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs2048425	0.89[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2117114	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2249731	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2255403	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2271349	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2377312	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs2570367	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs2695242	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2695243	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2793379	0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2793381	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2793658	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3219065	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs3219082	0.93[AFR][1000 genomes];0.89[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs3219104	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4653728	0.81[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs4653729	0.85[AFR][1000 genomes];0.82[AMR][1000 genomes];0.82[ASN][1000 genomes]
rs56033994	0.85[AFR][1000 genomes];0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs752307	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs752309	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs892348	0.98[ASN][1000 genomes]
rs907188	0.84[AMR][1000 genomes]
rs907190	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs907191	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs907192	0.85[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs907193	0.87[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs932002	0.88[AMR][1000 genomes];0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9943081	0.82[AMR][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:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:226592600-226596200	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:226592600-226596400	Active TSS	ES-I3 Cell Line	embryonic stem cell
3	chr1:226592800-226596400	Active TSS	HUES48 Cell Line	embryonic stem cell
4	chr1:226593000-226596400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr1:226593600-226596000	Active TSS	H1 Cell Line	embryonic stem cell
6	chr1:226593600-226596200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr1:226594000-226595800	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
8	chr1:226594000-226596400	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:226594200-226596200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr1:226594200-226596200	Active TSS	GM12878-XiMat	blood
11	chr1:226594200-226596400	Active TSS	ES-WA7 Cell Line	embryonic stem cell
12	chr1:226594200-226596400	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr1:226594200-226596600	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr1:226594400-226595800	Active TSS	Lung	lung
15	chr1:226594400-226596000	Active TSS	Fetal Muscle Trunk	muscle
16	chr1:226594400-226596400	Active TSS	H9 Cell Line	embryonic stem cell
17	chr1:226594400-226596400	Active TSS	HUES6 Cell Line	embryonic stem cell
18	chr1:226594400-226596400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr1:226594600-226596000	Active TSS	HepG2	liver
20	chr1:226594600-226596000	Active TSS	NHLF	lung
21	chr1:226594600-226596200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
22	chr1:226594600-226596200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:226594600-226596200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr1:226594600-226596200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr1:226594600-226596200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
26	chr1:226594600-226596200	Active TSS	Left Ventricle	heart
27	chr1:226594600-226596200	Active TSS	Pancreas	Pancrea
28	chr1:226594600-226596200	Active TSS	A549	lung
29	chr1:226594600-226596400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
30	chr1:226594800-226595800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
31	chr1:226594800-226595800	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
32	chr1:226594800-226595800	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
33	chr1:226594800-226595800	Active TSS	Gastric	stomach
34	chr1:226594800-226596000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
35	chr1:226594800-226596000	Active TSS	Primary B cells from peripheral blood	blood
36	chr1:226594800-226596000	Active TSS	Primary T helper cells PMA-I stimulated	--
37	chr1:226594800-226596000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr1:226594800-226596000	Active TSS	Dnd41	blood
39	chr1:226594800-226596200	Active TSS	Muscle Satellite Cultured Cells	--
40	chr1:226594800-226596200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:226594800-226596200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr1:226594800-226596200	Active TSS	Aorta	Aorta
43	chr1:226594800-226596200	Active TSS	Esophagus	oesophagus
44	chr1:226594800-226596200	Active TSS	Fetal Brain Female	brain
45	chr1:226594800-226596200	Active TSS	Pancreatic Islets	Pancreatic Islet
46	chr1:226594800-226596200	Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr1:226594800-226596200	Active TSS	Small Intestine	intestine
48	chr1:226594800-226596200	Active TSS	Stomach Mucosa	stomach
49	chr1:226594800-226596200	Active TSS	K562	blood
50	chr1:226594800-226596200	Active TSS	NHDF-Ad	bronchial

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