Variant report

Variant	rs11164959
Chromosome Location	chr1:92035240-92035241
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:92030890..92033569-chr1:92034151..92036238,3	K562	blood:
2	chr1:92029227..92031901-chr1:92033663..92035245,2	K562	blood:
3	chr1:91965732..91968185-chr1:92033683..92036118,4	K562	blood:

Variant related genes	Relation type
ENSG00000097046	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs11799812	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12064839	1.00[EUR][1000 genomes]
rs17131421	1.00[EUR][1000 genomes]
rs59574281	1.00[AMR][1000 genomes]
rs6669300	1.00[AMR][1000 genomes]
rs6696637	1.00[EUR][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	nsv949516	chr1:91644418-92109261	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92031000-92037400	Weak transcription	Colonic Mucosa	Colon
2	chr1:92031200-92035400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr1:92031200-92035400	Weak transcription	Fetal Muscle Trunk	muscle
4	chr1:92031200-92035400	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:92031200-92037400	Weak transcription	Fetal Thymus	thymus
6	chr1:92031400-92035400	Weak transcription	Colon Smooth Muscle	Colon
7	chr1:92032000-92035400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:92032200-92040800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
9	chr1:92033400-92036400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr1:92033400-92038200	Enhancers	Fetal Heart	heart
11	chr1:92034600-92035400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
12	chr1:92034600-92035400	Flanking Active TSS	NHDF-Ad	bronchial
13	chr1:92034600-92035600	Enhancers	Monocytes-CD14+_RO01746	blood
14	chr1:92034600-92035800	Enhancers	Duodenum Smooth Muscle	Duodenum
15	chr1:92034600-92036000	Enhancers	Primary T killer memory cells from peripheral blood	blood
16	chr1:92034600-92036000	Enhancers	HMEC	breast
17	chr1:92034600-92036400	Enhancers	NHEK	skin
18	chr1:92034600-92037400	Enhancers	NHLF	lung
19	chr1:92034600-92037800	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr1:92034800-92035400	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
21	chr1:92034800-92035400	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
22	chr1:92034800-92035600	Enhancers	Primary T helper cells PMA-I stimulated	--
23	chr1:92034800-92035600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr1:92034800-92035600	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr1:92034800-92035800	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
26	chr1:92034800-92035800	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr1:92034800-92035800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
28	chr1:92034800-92035800	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr1:92034800-92035800	Enhancers	Hela-S3	cervix
30	chr1:92034800-92036000	Enhancers	K562	blood
31	chr1:92034800-92036200	Enhancers	Muscle Satellite Cultured Cells	--
32	chr1:92034800-92036200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr1:92034800-92036200	Enhancers	Fetal Stomach	stomach
34	chr1:92034800-92036200	Enhancers	Placenta Amnion	Placenta Amnion
35	chr1:92034800-92036600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
36	chr1:92034800-92036800	Enhancers	Psoas Muscle	Psoas
37	chr1:92034800-92038200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr1:92034800-92038400	Enhancers	Adipose Nuclei	Adipose
39	chr1:92035000-92035400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
40	chr1:92035000-92035800	Enhancers	Primary T helper naive cells from peripheral blood	blood
41	chr1:92035000-92035800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
42	chr1:92035000-92035800	Enhancers	Primary T helper cells fromperipheralblood	blood
43	chr1:92035000-92035800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
44	chr1:92035000-92035800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
45	chr1:92035000-92035800	Enhancers	Right Ventricle	heart
46	chr1:92035000-92036000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr1:92035000-92036000	Enhancers	Stomach Mucosa	stomach
48	chr1:92035000-92036000	Enhancers	A549	lung
49	chr1:92035000-92036200	Enhancers	Fetal Lung	lung
50	chr1:92035000-92036200	Enhancers	Rectal Mucosa Donor 31	rectum

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