Variant report

Variant	rs230343
Chromosome Location	chr14:31127167-31127168
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31126982..31127513-chr6:3887375..3888256,2	MCF-7	breast:
2	chr14:31089949..31092197-chr14:31126575..31129516,2	K562	blood:
3	chr14:31126959..31127930-chr14:31220934..31221847,2	MCF-7	breast:
4	chr14:31125505..31127901-chr14:31342669..31344938,2	MCF-7	breast:
5	chr14:31126822..31127443-chr14:31225811..31226448,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000092108	Chromatin interaction
ENSG00000100473	Chromatin interaction

Extended variants
information (count: 61 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:57)

rs_ID	r²[population]
rs10130830	0.86[ASN][1000 genomes]
rs10139154	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs10142331	0.86[ASN][1000 genomes]
rs10147505	0.87[ASN][1000 genomes]
rs11625381	0.86[ASN][1000 genomes]
rs11846420	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs12434151	0.85[ASN][1000 genomes]
rs151123	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs170663	0.87[ASN][1000 genomes]
rs172946	0.88[ASN][1000 genomes]
rs179287	0.80[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs1950882	0.88[ASN][1000 genomes]
rs2045180	0.90[ASN][1000 genomes]
rs2070339	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs229141	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs229143	0.82[AMR][1000 genomes]
rs229144	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs229145	0.82[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs229150	0.95[ASN][1000 genomes]
rs229152	0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs229154	0.86[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs229155	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs229156	0.86[AMR][1000 genomes];0.96[ASN][1000 genomes]
rs229161	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs229162	0.86[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs229190	0.85[ASN][1000 genomes]
rs229206	0.86[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs229207	1.00[AFR][1000 genomes];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs229209	0.86[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs229211	0.87[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs229231	0.88[ASN][1000 genomes]
rs229236	0.80[AMR][1000 genomes]
rs229237	0.80[AMR][1000 genomes]
rs229240	0.80[AMR][1000 genomes]
rs230340	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs230351	0.89[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs230353	0.88[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs230356	0.86[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs230360	0.85[AMR][1000 genomes]
rs230364	0.87[AMR][1000 genomes];0.98[ASN][1000 genomes]
rs230366	0.87[AMR][1000 genomes];0.97[ASN][1000 genomes]
rs2378781	0.86[ASN][1000 genomes]
rs2378782	0.86[ASN][1000 genomes]
rs35349033	0.81[ASN][1000 genomes]
rs4981767	0.88[ASN][1000 genomes]
rs61976711	0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6571361	0.82[ASN][1000 genomes]
rs7141161	0.80[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7142948	0.88[ASN][1000 genomes]
rs7144204	0.88[ASN][1000 genomes]
rs7147530	0.86[ASN][1000 genomes]
rs7152417	0.87[ASN][1000 genomes]
rs7153509	0.87[ASN][1000 genomes]
rs7154847	0.88[ASN][1000 genomes]
rs7158351	0.83[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs8012494	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9806111	0.93[ASN][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:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31092200-31133200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr14:31092200-31133200	Weak transcription	Esophagus	oesophagus
3	chr14:31093600-31127200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr14:31093800-31159600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr14:31094200-31145200	Weak transcription	Small Intestine	intestine
6	chr14:31096000-31167400	Weak transcription	Gastric	stomach
7	chr14:31097200-31133800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr14:31099600-31133800	Strong transcription	Primary T helper cells fromperipheralblood	blood
9	chr14:31099600-31134000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr14:31102800-31128800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
11	chr14:31104200-31133200	Weak transcription	Aorta	Aorta
12	chr14:31110600-31141800	Weak transcription	Stomach Mucosa	stomach
13	chr14:31113800-31205400	Weak transcription	Fetal Brain Male	brain
14	chr14:31114400-31134000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
15	chr14:31115000-31133400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr14:31115000-31167600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
17	chr14:31115200-31138600	Weak transcription	Fetal Heart	heart
18	chr14:31115200-31159600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr14:31115400-31133000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr14:31115400-31133200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:31115600-31130600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr14:31116400-31133800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
23	chr14:31116600-31128800	Weak transcription	Right Atrium	heart
24	chr14:31116800-31132800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr14:31117200-31130600	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr14:31117200-31134000	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr14:31117600-31133600	Strong transcription	Primary neutrophils fromperipheralblood	blood
28	chr14:31117600-31133800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
29	chr14:31117800-31132800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr14:31117800-31134000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
31	chr14:31118200-31133200	Weak transcription	Lung	lung
32	chr14:31118200-31134000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr14:31118400-31130800	Strong transcription	HUES48 Cell Line	embryonic stem cell
34	chr14:31118400-31134000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr14:31118800-31127200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr14:31118800-31134000	Strong transcription	HSMM	muscle
37	chr14:31119000-31153200	Weak transcription	Right Ventricle	heart
38	chr14:31120600-31130800	Strong transcription	NH-A	brain
39	chr14:31120800-31129000	Strong transcription	Primary T cells from cord blood	blood
40	chr14:31121000-31130800	Strong transcription	Fetal Thymus	thymus
41	chr14:31121600-31159600	Weak transcription	H9 Cell Line	embryonic stem cell
42	chr14:31122400-31159600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr14:31122600-31141400	Weak transcription	Psoas Muscle	Psoas
44	chr14:31122600-31152200	Weak transcription	Spleen	Spleen
45	chr14:31122800-31205200	Weak transcription	Brain Angular Gyrus	brain
46	chr14:31123000-31212000	Weak transcription	Brain Inferior Temporal Lobe	brain
47	chr14:31123400-31216400	Weak transcription	Brain Cingulate Gyrus	brain
48	chr14:31123600-31127200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
49	chr14:31123600-31130000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr14:31123600-31130000	Weak transcription	NHDF-Ad	bronchial

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