Variant report

Variant	rs10142125
Chromosome Location	chr14:31065471-31065472
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:31053757..31056719-chr14:31064798..31067024,2	K562	blood:
2	chr14:31064886..31066400-chr4:167674138..167676088,2	MCF-7	breast:

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:55)

rs_ID	r²[population]
rs10129681	1.00[AMR][1000 genomes]
rs10130571	0.81[AMR][1000 genomes]
rs10132255	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132507	0.81[AMR][1000 genomes]
rs10135625	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10135741	1.00[AMR][1000 genomes]
rs10140530	1.00[AMR][1000 genomes]
rs10141104	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10141346	1.00[AMR][1000 genomes]
rs10141827	0.90[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10142747	0.81[AMR][1000 genomes]
rs10143105	0.81[AMR][1000 genomes]
rs10143565	0.83[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs10148278	0.81[AMR][1000 genomes]
rs10148782	0.81[AMR][1000 genomes]
rs10151934	1.00[AMR][1000 genomes]
rs10152019	0.95[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10152074	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10220596	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2157700	0.81[AMR][1000 genomes]
rs28440085	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28495989	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28542156	1.00[AMR][1000 genomes]
rs28649144	1.00[AMR][1000 genomes]
rs28649328	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28721907	1.00[AMR][1000 genomes]
rs28798220	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28860821	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2889991	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56250330	1.00[AMR][1000 genomes]
rs60108812	1.00[AMR][1000 genomes]
rs6571355	0.81[YRI][hapmap];1.00[AMR][1000 genomes]
rs7140200	0.89[AMR][1000 genomes]
rs7144286	1.00[AMR][1000 genomes]
rs7149384	1.00[AMR][1000 genomes]
rs7150097	1.00[AMR][1000 genomes]
rs7154354	1.00[AMR][1000 genomes]
rs7156057	0.81[AMR][1000 genomes]
rs7156916	0.90[YRI][hapmap];0.90[AMR][1000 genomes]
rs7157203	1.00[AMR][1000 genomes]
rs7159972	0.81[AMR][1000 genomes]
rs7359107	0.81[AMR][1000 genomes]
rs74041103	1.00[AMR][1000 genomes]
rs74041112	1.00[AMR][1000 genomes]
rs74041117	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74041128	1.00[AMR][1000 genomes]
rs74041241	0.81[AMR][1000 genomes]
rs8006594	1.00[AMR][1000 genomes]
rs8010048	0.81[AMR][1000 genomes]
rs8012029	0.89[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8014497	1.00[AMR][1000 genomes]
rs8019014	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes]
rs8022976	0.81[AMR][1000 genomes]
rs9806012	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9944142	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 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

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31029000-31071800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr14:31029200-31071800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr14:31032000-31067400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
4	chr14:31032400-31067200	Weak transcription	Fetal Stomach	stomach
5	chr14:31033800-31070000	Weak transcription	Lung	lung
6	chr14:31040200-31069800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr14:31043000-31079600	Weak transcription	Gastric	stomach
8	chr14:31043000-31090600	Weak transcription	Small Intestine	intestine
9	chr14:31045000-31070000	Weak transcription	Aorta	Aorta
10	chr14:31045800-31067400	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr14:31046800-31069800	Weak transcription	Fetal Kidney	kidney
12	chr14:31047000-31069800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr14:31047000-31079600	Weak transcription	Pancreas	Pancrea
14	chr14:31049600-31079600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr14:31050200-31079800	Weak transcription	Brain Angular Gyrus	brain
16	chr14:31050800-31067800	Weak transcription	Ovary	ovary
17	chr14:31051800-31079600	Weak transcription	Fetal Brain Male	brain
18	chr14:31052000-31077400	Weak transcription	Psoas Muscle	Psoas
19	chr14:31053600-31079800	Weak transcription	Brain Substantia Nigra	brain
20	chr14:31053800-31067600	Weak transcription	Brain Anterior Caudate	brain
21	chr14:31053800-31070200	Weak transcription	Placenta Amnion	Placenta Amnion
22	chr14:31053800-31090600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr14:31054200-31090400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
24	chr14:31054400-31066800	Weak transcription	Brain Germinal Matrix	brain
25	chr14:31054600-31066800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:31054600-31068000	Weak transcription	HSMMtube	muscle
27	chr14:31054800-31066800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
28	chr14:31054800-31066800	Weak transcription	Fetal Intestine Large	intestine
29	chr14:31054800-31072000	Weak transcription	Brain Inferior Temporal Lobe	brain
30	chr14:31054800-31087200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr14:31055000-31086800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr14:31055400-31067400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:31055400-31069800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr14:31055400-31070000	Weak transcription	Colonic Mucosa	Colon
35	chr14:31055600-31088000	Strong transcription	HUES48 Cell Line	embryonic stem cell
36	chr14:31056200-31067600	Weak transcription	Brain Hippocampus Middle	brain
37	chr14:31057000-31067400	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr14:31057000-31067400	Weak transcription	Thymus	Thymus
39	chr14:31057200-31071800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
40	chr14:31057400-31077600	Weak transcription	Pancreatic Islets	Pancreatic Islet
41	chr14:31057800-31079800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr14:31058400-31080000	Weak transcription	Fetal Heart	heart
43	chr14:31058800-31069800	Weak transcription	Spleen	Spleen
44	chr14:31058800-31074800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr14:31059200-31069400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr14:31059400-31067600	Weak transcription	Fetal Brain Female	brain
47	chr14:31059400-31067800	Weak transcription	Colon Smooth Muscle	Colon
48	chr14:31059400-31067800	Weak transcription	Rectal Mucosa Donor 31	rectum
49	chr14:31059600-31069200	Weak transcription	NHEK	skin
50	chr14:31059600-31069400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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