Variant report

Variant	rs1883442
Chromosome Location	chr1:209865360-209865361
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:209858876..209863587-chr1:209863612..209867489,5	K562	blood:
2	chr1:209742622..209744127-chr1:209864930..209867210,2	MCF-7	breast:
3	chr1:209751059..209753558-chr1:209865258..209867656,2	K562	blood:

Variant related genes	Relation type
ENSG00000117594	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10082248	0.85[ASN][1000 genomes]
rs10863780	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4844881	0.88[AMR][1000 genomes]
rs6540547	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs6694238	0.91[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs701950	0.97[AMR][1000 genomes]
rs7528902	0.85[ASN][1000 genomes]
rs846908	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs846910	0.81[ASN][1000 genomes]
rs860184	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999901	chr1:209600631-210205379	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	nsv1014034	chr1:209759648-210501731	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv873139	chr1:209828955-210050794	Active TSS Enhancers Weak transcription Bivalent Enhancer Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:35 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:209859400-209866000	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr1:209859600-209866000	Weak transcription	Stomach Smooth Muscle	stomach
3	chr1:209861800-209866200	Weak transcription	Primary T cells fromperipheralblood	blood
4	chr1:209861800-209866200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
5	chr1:209861800-209866200	Weak transcription	Primary T helper cells PMA-I stimulated	--
6	chr1:209861800-209866200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr1:209862400-209866000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr1:209862600-209866000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr1:209862600-209866000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr1:209862600-209866000	Weak transcription	HSMM	muscle
11	chr1:209862600-209866000	Weak transcription	Osteobl	bone
12	chr1:209862800-209865600	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr1:209862800-209867600	Weak transcription	Fetal Intestine Large	intestine
14	chr1:209863000-209866000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
15	chr1:209863000-209866000	Weak transcription	Fetal Stomach	stomach
16	chr1:209863000-209866200	Weak transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:209863200-209865600	Weak transcription	Small Intestine	intestine
18	chr1:209863200-209866000	Weak transcription	Adipose Nuclei	Adipose
19	chr1:209863200-209866000	Weak transcription	Fetal Muscle Leg	muscle
20	chr1:209863200-209866000	Weak transcription	Rectal Mucosa Donor 31	rectum
21	chr1:209863200-209866200	Weak transcription	Colon Smooth Muscle	Colon
22	chr1:209863200-209866200	Weak transcription	Duodenum Mucosa	Duodenum
23	chr1:209863200-209869600	Weak transcription	Fetal Heart	heart
24	chr1:209863200-209870000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr1:209863400-209866000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
26	chr1:209864400-209866400	Enhancers	Hela-S3	cervix
27	chr1:209864400-209866400	Enhancers	NHEK	skin
28	chr1:209864400-209867000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:209864600-209866400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
30	chr1:209864600-209866800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr1:209864600-209866800	Enhancers	HMEC	breast
32	chr1:209864800-209866200	Weak transcription	Stomach Mucosa	stomach
33	chr1:209865000-209865400	Weak transcription	Fetal Lung	lung
34	chr1:209865200-209866400	Enhancers	A549	lung
35	chr1:209865200-209867200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

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