Variant report

Variant	rs142983
Chromosome Location	chr14:31075438-31075439
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31075132..31078327-chr14:31090098..31093775,4	MCF-7	breast:
2	chr14:31074562..31083390-chr14:31084587..31093565,15	K562	blood:

Variant related genes	Relation type
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs10146357	0.82[CEU][hapmap]
rs10147257	0.84[CEU][hapmap]
rs1113946	0.94[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1123860	0.84[CEU][hapmap]
rs11622786	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11624235	0.87[EUR][1000 genomes]
rs11627421	0.82[CEU][hapmap]
rs11846408	0.84[CEU][hapmap]
rs12882048	0.84[AMR][1000 genomes]
rs12882931	0.82[CEU][hapmap];0.81[AMR][1000 genomes]
rs12888568	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[AMR][1000 genomes];0.86[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs12894186	0.84[CEU][hapmap];0.84[AMR][1000 genomes]
rs17096941	0.82[CEU][hapmap];0.88[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17097023	0.84[CEU][hapmap]
rs17097130	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs17097160	0.94[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.82[AMR][1000 genomes]
rs2038451	0.94[CEU][hapmap];0.96[CHB][hapmap];1.00[JPT][hapmap];0.86[AMR][1000 genomes];0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs2070340	0.89[CEU][hapmap]
rs2273521	0.84[CEU][hapmap]
rs2273522	0.82[CEU][hapmap];0.86[AMR][1000 genomes]
rs229164	0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs229215	0.82[EUR][1000 genomes]
rs34935871	0.85[AMR][1000 genomes]
rs35069045	0.82[CEU][hapmap]
rs3736773	0.94[CEU][hapmap];0.90[CHB][hapmap];0.82[JPT][hapmap];0.92[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs3825740	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4430662	0.89[CEU][hapmap]
rs447853	0.83[CHB][hapmap];0.82[JPT][hapmap]
rs55725270	0.84[EUR][1000 genomes]
rs59856095	0.95[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs61976712	0.85[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs7141624	0.84[AMR][1000 genomes]
rs761956	0.84[CEU][hapmap]
rs8008094	0.82[CEU][hapmap]
rs8009427	0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs8012325	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs8013017	0.89[CEU][hapmap];0.84[AMR][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:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31043000-31079600	Weak transcription	Gastric	stomach
2	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
3	chr14:31047000-31079600	Weak transcription	Pancreas	Pancrea
4	chr14:31049600-31079600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:31050200-31079800	Weak transcription	Brain Angular Gyrus	brain
6	chr14:31051800-31079600	Weak transcription	Fetal Brain Male	brain
7	chr14:31052000-31077400	Weak transcription	Psoas Muscle	Psoas
8	chr14:31053600-31079800	Weak transcription	Brain Substantia Nigra	brain
9	chr14:31053800-31090600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr14:31054200-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:31054800-31087200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr14:31055000-31086800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
13	chr14:31055600-31088000	Strong transcription	HUES48 Cell Line	embryonic stem cell
14	chr14:31057400-31077600	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr14:31057800-31079800	Weak transcription	Brain Cingulate Gyrus	brain
16	chr14:31058400-31080000	Weak transcription	Fetal Heart	heart
17	chr14:31059800-31080000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:31061600-31090400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr14:31064200-31078200	Strong transcription	Monocytes-CD14+_RO01746	blood
20	chr14:31064400-31087800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr14:31064800-31078000	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr14:31064800-31086600	Strong transcription	Dnd41	blood
23	chr14:31064800-31087800	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr14:31065600-31076800	Strong transcription	Primary B cells from peripheral blood	blood
25	chr14:31065600-31086600	Strong transcription	HepG2	liver
26	chr14:31065800-31083000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr14:31065800-31086800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr14:31065800-31087000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr14:31065800-31087600	Strong transcription	HUES6 Cell Line	embryonic stem cell
30	chr14:31066000-31078200	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr14:31066000-31082400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr14:31067200-31076800	Strong transcription	Primary monocytes fromperipheralblood	blood
33	chr14:31067600-31076600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr14:31068000-31080600	Weak transcription	Right Ventricle	heart
35	chr14:31068200-31080000	Weak transcription	Esophagus	oesophagus
36	chr14:31068400-31077400	Weak transcription	Stomach Mucosa	stomach
37	chr14:31068400-31079800	Weak transcription	Brain Hippocampus Middle	brain
38	chr14:31069000-31090600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
39	chr14:31069000-31090800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr14:31069400-31076400	Strong transcription	HUVEC	blood vessel
41	chr14:31069600-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr14:31070000-31077400	Weak transcription	Fetal Kidney	kidney
43	chr14:31070400-31090600	Weak transcription	Spleen	Spleen
44	chr14:31071000-31077400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:31071000-31078000	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr14:31071000-31090600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr14:31071000-31090600	Weak transcription	Placenta Amnion	Placenta Amnion
48	chr14:31071400-31090200	Weak transcription	Fetal Brain Female	brain
49	chr14:31071400-31090400	Weak transcription	Colonic Mucosa	Colon
50	chr14:31071400-31090800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell

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