Variant report

Variant	rs2213875
Chromosome Location	chr1:175100582-175100583
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:174991644..174994084-chr1:175099649..175102143,2	K562	blood:

Variant related genes	Relation type
ENSG00000206659	Chromatin interaction
ENSG00000120333	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10798335	0.80[AMR][1000 genomes];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912891	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912892	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10912893	0.91[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6670979	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6704290	0.80[AMR][1000 genomes];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7526772	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7529212	0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[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	nsv825487	chr1:175031609-175113572	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
2	nsv508648	chr1:175056387-175121913	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:50 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:175095800-175102600	Enhancers	Stomach Smooth Muscle	stomach
2	chr1:175096400-175102600	Enhancers	Colon Smooth Muscle	Colon
3	chr1:175097200-175103000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
4	chr1:175097800-175103400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr1:175098000-175101000	Weak transcription	Right Ventricle	heart
6	chr1:175098000-175101200	Enhancers	HUES64 Cell Line	embryonic stem cell
7	chr1:175098000-175101200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
8	chr1:175098400-175100600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr1:175098400-175101600	Enhancers	HUES48 Cell Line	embryonic stem cell
10	chr1:175098400-175102000	Enhancers	H9 Cell Line	embryonic stem cell
11	chr1:175098400-175102000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr1:175098400-175102000	Enhancers	Breast Myoepithelial Primary Cells	Breast
13	chr1:175098600-175101600	Enhancers	iPS-15b Cell Line	embryonic stem cell
14	chr1:175098800-175101400	Weak transcription	HMEC	breast
15	chr1:175099200-175101200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
16	chr1:175099200-175101600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:175099200-175102800	Weak transcription	Stomach Mucosa	stomach
18	chr1:175099200-175103200	Enhancers	Rectal Smooth Muscle	rectum
19	chr1:175099400-175101000	Weak transcription	NHLF	lung
20	chr1:175099400-175101200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr1:175099400-175101200	Weak transcription	Left Ventricle	heart
22	chr1:175099400-175101200	Weak transcription	HSMMtube	muscle
23	chr1:175099400-175101200	Weak transcription	NHDF-Ad	bronchial
24	chr1:175099400-175101200	Weak transcription	NHEK	skin
25	chr1:175099400-175101600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr1:175099400-175101600	Weak transcription	Ovary	ovary
27	chr1:175099400-175103000	Weak transcription	Spleen	Spleen
28	chr1:175099800-175101000	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr1:175099800-175101200	Weak transcription	HUES6 Cell Line	embryonic stem cell
30	chr1:175099800-175101200	Weak transcription	Aorta	Aorta
31	chr1:175099800-175101200	Weak transcription	Right Atrium	heart
32	chr1:175099800-175101600	Weak transcription	Skeletal Muscle Female	skeletal muscle
33	chr1:175099800-175101800	Enhancers	iPS-18 Cell Line	embryonic stem cell
34	chr1:175099800-175101800	Weak transcription	Placenta	Placenta
35	chr1:175099800-175103000	Weak transcription	Lung	lung
36	chr1:175100000-175101000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr1:175100000-175101000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr1:175100000-175101800	Enhancers	iPS-20b Cell Line	embryonic stem cell
39	chr1:175100000-175101800	Weak transcription	Fetal Muscle Leg	muscle
40	chr1:175100000-175105400	Weak transcription	Liver	Liver
41	chr1:175100000-175105800	Weak transcription	Adipose Nuclei	Adipose
42	chr1:175100200-175101000	Weak transcription	Small Intestine	intestine
43	chr1:175100200-175103200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
44	chr1:175100400-175100800	Enhancers	Fetal Lung	lung
45	chr1:175100400-175101200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
46	chr1:175100400-175101600	Weak transcription	Fetal Stomach	stomach
47	chr1:175100400-175101800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr1:175100400-175101800	Weak transcription	Rectal Mucosa Donor 29	rectum
49	chr1:175100400-175103000	Weak transcription	Cortex derived primary cultured neurospheres	brain
50	chr1:175100400-175105200	Enhancers	GM12878-XiMat	blood

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