Variant report

Variant	rs1801166
Chromosome Location	chr5:112175240-112175241
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:112058057..112061004-chr5:112174922..112177064,2	K562	blood:
2	chr5:112077462..112079150-chr5:112174470..112176548,2	K562	blood:
3	chr5:112070188..112073138-chr5:112174884..112177444,2	K562	blood:
4	chr5:112173265..112176575-chr5:112195764..112198509,4	K562	blood:

Variant related genes	Relation type
ENSG00000272869	Chromatin interaction
ENSG00000153037	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs17135168	1.00[EUR][1000 genomes]
rs34506289	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs34950096	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4987110	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55662611	1.00[EUR][1000 genomes]
rs57954089	1.00[EUR][1000 genomes]
rs73222001	1.00[EUR][1000 genomes]
rs73789244	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1032464	chr5:112076061-112192380	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
2	nsv537862	chr5:112076061-112192380	Weak transcription Genic enhancers Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
3	esv33290	chr5:112110808-112238295	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
4	nsv1029271	chr5:112113308-112325943	Strong transcription Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	nsv1034239	chr5:112161239-112194693	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
6	nsv529536	chr5:112174106-112269758	Genic enhancers Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112093400-112183800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr5:112118200-112177000	Weak transcription	Colonic Mucosa	Colon
3	chr5:112132800-112179800	Strong transcription	Cortex derived primary cultured neurospheres	brain
4	chr5:112136600-112176200	Strong transcription	Primary monocytes fromperipheralblood	blood
5	chr5:112140400-112183800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr5:112149400-112176400	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr5:112150200-112177800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr5:112151400-112176400	Strong transcription	Primary T cells fromperipheralblood	blood
9	chr5:112152000-112183800	Weak transcription	Gastric	stomach
10	chr5:112153200-112179400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr5:112153200-112179800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
12	chr5:112154400-112179400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
13	chr5:112154600-112177800	Strong transcription	Primary T cells from cord blood	blood
14	chr5:112155000-112183800	Weak transcription	Aorta	Aorta
15	chr5:112156200-112179000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
16	chr5:112160600-112176200	Strong transcription	Primary neutrophils fromperipheralblood	blood
17	chr5:112163400-112183800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr5:112165400-112182400	Weak transcription	Right Ventricle	heart
19	chr5:112167200-112175800	Strong transcription	Liver	Liver
20	chr5:112167800-112178000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr5:112168200-112175800	Strong transcription	Fetal Stomach	stomach
22	chr5:112168200-112176400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr5:112168400-112178400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
24	chr5:112168400-112179000	Strong transcription	Fetal Muscle Leg	muscle
25	chr5:112169000-112176600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr5:112169400-112176400	Strong transcription	Fetal Intestine Large	intestine
27	chr5:112170200-112177200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr5:112171400-112177400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:112171600-112179600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:112171800-112176600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
31	chr5:112172000-112175400	Strong transcription	NHLF	lung
32	chr5:112172000-112176000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr5:112172000-112176200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr5:112172000-112176800	Strong transcription	Primary B cells from cord blood	blood
35	chr5:112172200-112175800	Strong transcription	Duodenum Mucosa	Duodenum
36	chr5:112172200-112175800	Strong transcription	Dnd41	blood
37	chr5:112172200-112176200	Strong transcription	Osteobl	bone
38	chr5:112172200-112176800	Strong transcription	Stomach Smooth Muscle	stomach
39	chr5:112172200-112177400	Strong transcription	Fetal Thymus	thymus
40	chr5:112172400-112180000	Strong transcription	Fetal Brain Female	brain
41	chr5:112172600-112175800	Strong transcription	Brain Hippocampus Middle	brain
42	chr5:112172600-112175800	Strong transcription	A549	lung
43	chr5:112172600-112176200	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
44	chr5:112172600-112176200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr5:112172600-112176600	Strong transcription	Adipose Nuclei	Adipose
46	chr5:112172600-112176800	Strong transcription	Primary hematopoietic stem cells	blood
47	chr5:112172600-112177800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:112172600-112179800	Strong transcription	HSMM	muscle
49	chr5:112172800-112175400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr5:112172800-112176000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell

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