Variant report

Variant	rs7156057
Chromosome Location	chr14:31030021-31030022
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31029408..31031753-chr14:31090278..31092487,2	K562	blood:
2	chr14:31027330..31031100-chr14:31087785..31093139,9	MCF-7	breast:
3	chr14:31027121..31031753-chr14:31090278..31094067,6	K562	blood:
4	chr14:31028766..31030922-chr14:31085217..31087715,2	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRKD1-2	chr14:31029943-31030041	ENSG00000257636.1

Variant related genes	Relation type
ENSG00000092108	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:51)

rs_ID	r²[population]
rs10129681	0.81[AMR][1000 genomes]
rs10130571	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10132255	0.81[AMR][1000 genomes]
rs10132507	0.90[YRI][hapmap];1.00[AMR][1000 genomes]
rs10135625	0.81[AMR][1000 genomes]
rs10135741	0.81[AMR][1000 genomes]
rs10140530	0.81[AMR][1000 genomes]
rs10141104	0.81[AMR][1000 genomes]
rs10141346	0.81[AMR][1000 genomes]
rs10141827	0.81[AMR][1000 genomes]
rs10142125	0.81[AMR][1000 genomes]
rs10142747	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143105	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148278	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10148782	1.00[AMR][1000 genomes]
rs10151934	0.81[AMR][1000 genomes]
rs10152019	0.81[AMR][1000 genomes]
rs10152074	0.81[AMR][1000 genomes]
rs10220596	0.81[AMR][1000 genomes]
rs2157700	0.82[AMR][1000 genomes]
rs229249	0.87[YRI][hapmap]
rs28440085	0.81[AMR][1000 genomes]
rs28495989	0.81[AMR][1000 genomes]
rs28542156	0.81[AMR][1000 genomes]
rs28649144	0.81[AMR][1000 genomes]
rs28649328	0.81[AMR][1000 genomes]
rs28721907	0.81[AMR][1000 genomes]
rs28798220	0.81[AMR][1000 genomes]
rs28860821	0.81[AMR][1000 genomes]
rs2889991	0.81[AMR][1000 genomes]
rs56250330	0.81[AMR][1000 genomes]
rs60108812	0.81[AMR][1000 genomes]
rs6571355	0.81[AMR][1000 genomes]
rs7144286	0.81[AMR][1000 genomes]
rs7149384	0.81[AMR][1000 genomes]
rs7150097	0.81[AMR][1000 genomes]
rs7154354	0.81[AMR][1000 genomes]
rs7157203	0.81[AMR][1000 genomes]
rs7159972	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7359107	1.00[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74041103	0.81[AMR][1000 genomes]
rs74041112	0.81[AMR][1000 genomes]
rs74041117	0.81[AMR][1000 genomes]
rs74041128	0.81[AMR][1000 genomes]
rs8004508	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes]
rs8006594	0.81[AMR][1000 genomes]
rs8012029	0.81[AMR][1000 genomes]
rs8014497	0.81[AMR][1000 genomes]
rs8022976	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9806012	0.81[AMR][1000 genomes]
rs9944142	0.81[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:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31027600-31030200	Active TSS	H1 Cell Line	embryonic stem cell
2	chr14:31027600-31030600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr14:31027600-31031000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
4	chr14:31027800-31030200	Active TSS	HUES6 Cell Line	embryonic stem cell
5	chr14:31027800-31030400	Active TSS	K562	blood
6	chr14:31027800-31030600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr14:31029000-31030200	Flanking Active TSS	Primary T cells from cord blood	blood
8	chr14:31029000-31030400	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr14:31029000-31071800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr14:31029200-31030400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
11	chr14:31029200-31030400	Enhancers	Colon Smooth Muscle	Colon
12	chr14:31029200-31031800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr14:31029200-31031800	Weak transcription	Pancreas	Pancrea
14	chr14:31029200-31033600	Weak transcription	Lung	lung
15	chr14:31029200-31034400	Weak transcription	Placenta Amnion	Placenta Amnion
16	chr14:31029200-31042200	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr14:31029200-31071800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr14:31029400-31030200	Enhancers	Primary monocytes fromperipheralblood	blood
19	chr14:31029400-31030200	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
20	chr14:31029400-31030200	Enhancers	Brain Angular Gyrus	brain
21	chr14:31029400-31030200	Enhancers	Skeletal Muscle Male	skeletal muscle
22	chr14:31029400-31030200	Flanking Active TSS	Osteobl	bone
23	chr14:31029400-31030400	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr14:31029400-31030400	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr14:31029400-31030400	Enhancers	Primary neutrophils fromperipheralblood	blood
26	chr14:31029400-31030400	Enhancers	Primary B cells from peripheral blood	blood
27	chr14:31029400-31030400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
28	chr14:31029400-31030400	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr14:31029400-31030400	Enhancers	Liver	Liver
30	chr14:31029400-31030400	Enhancers	Brain Hippocampus Middle	brain
31	chr14:31029400-31030400	Enhancers	Brain Substantia Nigra	brain
32	chr14:31029400-31030400	Enhancers	Skeletal Muscle Female	skeletal muscle
33	chr14:31029400-31031000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
34	chr14:31029400-31031200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
35	chr14:31029400-31031200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
36	chr14:31029400-31031800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:31029400-31032000	Weak transcription	Gastric	stomach
38	chr14:31029400-31032000	Weak transcription	Stomach Smooth Muscle	stomach
39	chr14:31029400-31059400	Weak transcription	Left Ventricle	heart
40	chr14:31029400-31060400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr14:31029600-31030200	Flanking Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr14:31029600-31030200	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
43	chr14:31029600-31030200	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr14:31029600-31030200	Enhancers	Breast Myoepithelial Primary Cells	Breast
45	chr14:31029600-31030200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
46	chr14:31029600-31030200	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr14:31029600-31030200	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
48	chr14:31029600-31030400	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr14:31029600-31030400	Enhancers	Primary B cells from cord blood	blood
50	chr14:31029600-31030400	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--

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