Variant report

Variant	rs229164
Chromosome Location	chr14:31111212-31111213
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31100141..31102895-chr14:31109728..31111873,2	K562	blood:
2	chr14:31106497..31108478-chr14:31110822..31112690,2	K562	blood:

Variant related genes	Relation type
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 44 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:40)

rs_ID	r²[population]
rs10131166	0.83[EUR][1000 genomes]
rs10141944	0.83[EUR][1000 genomes]
rs1113946	0.84[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs11156637	0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs1123860	0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11622076	0.83[EUR][1000 genomes]
rs11622786	0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11623154	0.83[EUR][1000 genomes]
rs11627421	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs11846293	0.83[EUR][1000 genomes]
rs11846408	0.83[EUR][1000 genomes]
rs11851205	0.83[EUR][1000 genomes]
rs12586678	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12882048	0.83[AMR][1000 genomes]
rs12882931	0.89[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs12888568	0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs142983	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs17096941	0.82[AMR][1000 genomes]
rs17097023	0.90[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17097130	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17097160	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2038451	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2273520	0.83[EUR][1000 genomes]
rs2273521	0.81[EUR][1000 genomes]
rs2273522	0.85[AMR][1000 genomes]
rs34935871	0.86[AMR][1000 genomes]
rs35069045	0.80[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs3736773	0.91[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3825740	0.86[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4399466	0.85[EUR][1000 genomes]
rs59856095	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61976712	0.87[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6571356	0.83[EUR][1000 genomes]
rs6571357	0.83[EUR][1000 genomes]
rs7493549	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs761956	0.80[AMR][1000 genomes]
rs8009427	0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs8012325	0.82[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs8013017	0.83[AMR][1000 genomes]
rs8019637	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv1036419	chr14:30969616-31224226	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
3	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
4	nsv564171	chr14:31068090-31149630	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31092200-31121000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr14:31092200-31133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:31092200-31133200	Weak transcription	Esophagus	oesophagus
4	chr14:31092400-31122800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr14:31092800-31113200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr14:31092800-31114200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
7	chr14:31093600-31127200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr14:31093800-31113800	Weak transcription	Brain Substantia Nigra	brain
9	chr14:31093800-31159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr14:31094000-31113200	Weak transcription	Fetal Brain Male	brain
11	chr14:31094000-31122000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
12	chr14:31094200-31121000	Weak transcription	Spleen	Spleen
13	chr14:31094200-31145200	Weak transcription	Small Intestine	intestine
14	chr14:31095200-31112400	Weak transcription	Skeletal Muscle Male	skeletal muscle
15	chr14:31095200-31119200	Weak transcription	Colonic Mucosa	Colon
16	chr14:31095600-31114400	Weak transcription	Fetal Heart	heart
17	chr14:31095800-31121000	Weak transcription	Ovary	ovary
18	chr14:31095800-31121000	Weak transcription	Thymus	Thymus
19	chr14:31096000-31116600	Weak transcription	Lung	lung
20	chr14:31096000-31121000	Weak transcription	Pancreas	Pancrea
21	chr14:31096000-31167400	Weak transcription	Gastric	stomach
22	chr14:31096200-31113200	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr14:31097200-31133800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
24	chr14:31099600-31113000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
25	chr14:31099600-31113200	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:31099600-31113200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr14:31099600-31113600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr14:31099600-31113600	Strong transcription	HSMM	muscle
29	chr14:31099600-31114200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr14:31099600-31114400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
31	chr14:31099600-31133800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr14:31099600-31134000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr14:31100000-31113000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr14:31100600-31123600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr14:31101200-31111600	Weak transcription	Fetal Intestine Small	intestine
36	chr14:31101200-31112200	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr14:31102000-31123600	Strong transcription	NHDF-Ad	bronchial
38	chr14:31102200-31113200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr14:31102200-31113200	Strong transcription	HepG2	liver
40	chr14:31102200-31115200	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr14:31102400-31121000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
42	chr14:31102800-31128800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
43	chr14:31104000-31113000	Weak transcription	Brain Germinal Matrix	brain
44	chr14:31104000-31113200	Weak transcription	Psoas Muscle	Psoas
45	chr14:31104000-31121200	Weak transcription	NHEK	skin
46	chr14:31104200-31111400	Weak transcription	Sigmoid Colon	Sigmoid Colon
47	chr14:31104200-31113200	Weak transcription	Brain Angular Gyrus	brain
48	chr14:31104200-31121200	Weak transcription	Brain Cingulate Gyrus	brain
49	chr14:31104200-31133200	Weak transcription	Aorta	Aorta
50	chr14:31104400-31113200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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