Variant report

Variant	rs2229997
Chromosome Location	chr5:112176541-112176542
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	chr5:112176097..112178949-chr5:112179046..112180658,2	MCF-7	breast:
3	chr5:112077462..112079150-chr5:112174470..112176548,2	K562	blood:
4	chr5:112070188..112073138-chr5:112174884..112177444,2	K562	blood:
5	chr5:112176263..112181367-chr5:112181688..112184725,5	K562	blood:
6	chr5:112173265..112176575-chr5:112195764..112198509,4	K562	blood:

Variant related genes	Relation type
ENSG00000272869	Chromatin interaction
ENSG00000153037	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs17360289	1.00[AFR][1000 genomes]
rs55771309	1.00[AFR][1000 genomes]
rs56320268	1.00[AFR][1000 genomes]
rs6862066	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6879416	1.00[AFR][1000 genomes]
rs6879615	1.00[AFR][1000 genomes]
rs6882720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7700326	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7704566	1.00[AFR][1000 genomes]
rs7718840	1.00[AMR][1000 genomes]
rs7726765	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7734810	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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
7	esv3391996	chr5:112176339-112176806	Strong transcription Weak transcription ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 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	chr5:112140400-112183800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr5:112150200-112177800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr5:112152000-112183800	Weak transcription	Gastric	stomach
7	chr5:112153200-112179400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr5:112153200-112179800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
9	chr5:112154400-112179400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr5:112154600-112177800	Strong transcription	Primary T cells from cord blood	blood
11	chr5:112155000-112183800	Weak transcription	Aorta	Aorta
12	chr5:112156200-112179000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr5:112163400-112183800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr5:112165400-112182400	Weak transcription	Right Ventricle	heart
15	chr5:112167800-112178000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr5:112168400-112178400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr5:112168400-112179000	Strong transcription	Fetal Muscle Leg	muscle
18	chr5:112169000-112176600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr5:112170200-112177200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
20	chr5:112171400-112177400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
21	chr5:112171600-112179600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr5:112171800-112176600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr5:112172000-112176800	Strong transcription	Primary B cells from cord blood	blood
24	chr5:112172200-112176800	Strong transcription	Stomach Smooth Muscle	stomach
25	chr5:112172200-112177400	Strong transcription	Fetal Thymus	thymus
26	chr5:112172400-112180000	Strong transcription	Fetal Brain Female	brain
27	chr5:112172600-112176600	Strong transcription	Adipose Nuclei	Adipose
28	chr5:112172600-112176800	Strong transcription	Primary hematopoietic stem cells	blood
29	chr5:112172600-112177800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr5:112172600-112179800	Strong transcription	HSMM	muscle
31	chr5:112172800-112176600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr5:112172800-112178200	Strong transcription	Primary B cells from peripheral blood	blood
33	chr5:112172800-112179000	Strong transcription	Brain Germinal Matrix	brain
34	chr5:112173000-112176600	Strong transcription	Brain Substantia Nigra	brain
35	chr5:112173200-112176600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr5:112173200-112176600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
37	chr5:112173200-112176600	Strong transcription	Brain Anterior Caudate	brain
38	chr5:112173200-112176600	Strong transcription	Left Ventricle	heart
39	chr5:112173200-112176600	Strong transcription	Skeletal Muscle Female	skeletal muscle
40	chr5:112173200-112177200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr5:112173200-112177200	Strong transcription	Muscle Satellite Cultured Cells	--
42	chr5:112173200-112177200	Strong transcription	Fetal Lung	lung
43	chr5:112173200-112177600	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr5:112173200-112179200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr5:112173400-112176600	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
46	chr5:112173400-112176600	Strong transcription	NHDF-Ad	bronchial
47	chr5:112173400-112177000	Strong transcription	HSMMtube	muscle
48	chr5:112173800-112176600	Strong transcription	Brain Angular Gyrus	brain
49	chr5:112173800-112177200	Strong transcription	HepG2	liver
50	chr5:112174000-112182200	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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