Variant report

Variant	rs10136494
Chromosome Location	chr14:35788429-35788430
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:35786509..35789581-chr14:35793946..35797059,3	K562	blood:
2	chr14:35761955..35763950-chr14:35787734..35790332,2	K562	blood:
3	chr14:35787677..35790283-chr14:35804787..35806837,2	MCF-7	breast:
4	chr14:35787443..35789912-chr14:35792627..35795777,3	MCF-7	breast:

Extended variants
information (count: 63 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10130007	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10132938	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10133402	1.00[CEU][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10134499	1.00[CEU][hapmap];0.94[EUR][1000 genomes]
rs10134666	1.00[CEU][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10137095	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10137440	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];0.88[EUR][1000 genomes]
rs10137488	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10140636	0.92[AFR][1000 genomes];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10140985	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10141688	1.00[CEU][hapmap];0.85[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10143083	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs10146661	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147734	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs10148143	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148234	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10148868	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs10148872	1.00[CEU][hapmap];0.85[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10149412	1.00[CEU][hapmap];1.00[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs10467707	1.00[CEU][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10467708	0.84[AFR][1000 genomes]
rs10715	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs11156879	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11156880	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs11547365	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11851831	1.00[CEU][hapmap];0.85[AMR][1000 genomes]
rs12323542	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs13393	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17458583	0.80[YRI][hapmap]
rs17597267	0.82[YRI][hapmap];0.84[AFR][1000 genomes]
rs17597281	0.80[YRI][hapmap];0.84[AFR][1000 genomes]
rs2415281	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28460322	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs28461608	0.88[AFR][1000 genomes]
rs28522717	0.88[AFR][1000 genomes]
rs28625199	1.00[AMR][1000 genomes]
rs55747728	0.85[AMR][1000 genomes]
rs57606486	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58058174	1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs58177251	0.85[AMR][1000 genomes]
rs59708026	0.85[AMR][1000 genomes]
rs59954445	0.85[AMR][1000 genomes]
rs60206834	0.85[AMR][1000 genomes]
rs7140912	1.00[YRI][hapmap];0.88[AFR][1000 genomes]
rs7141690	0.85[AMR][1000 genomes]
rs7145488	0.85[AMR][1000 genomes]
rs7154775	1.00[CEU][hapmap];1.00[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7158019	0.84[AFR][1000 genomes]
rs7158592	0.85[AMR][1000 genomes]
rs8004205	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs8017330	0.89[YRI][hapmap];0.88[AFR][1000 genomes]
rs8018707	1.00[CEU][hapmap];1.00[EUR][1000 genomes]
rs9322944	1.00[CEU][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9322945	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9322946	1.00[CEU][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv949617	chr14:35379923-35825436	Enhancers Weak transcription Strong transcription Genic enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
2	nsv870305	chr14:35488290-35852349	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv1053604	chr14:35548276-35825805	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
4	nsv1052392	chr14:35563220-35893309	Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
5	nsv542036	chr14:35563220-35893309	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	83 gene(s)	inside rSNPs	diseases
6	nsv1043840	chr14:35739319-35791879	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
7	nsv456205	chr14:35772940-35826370	ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
8	nsv564318	chr14:35772940-35826370	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 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	chr14:35763200-35789600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr14:35766200-35792000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
3	chr14:35769200-35800800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr14:35770400-35789000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
5	chr14:35772400-35788800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
6	chr14:35772400-35790400	Weak transcription	Fetal Heart	heart
7	chr14:35772600-35789000	Strong transcription	HepG2	liver
8	chr14:35773400-35789000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
9	chr14:35774200-35789800	Strong transcription	Fetal Thymus	thymus
10	chr14:35774600-35789400	Strong transcription	Dnd41	blood
11	chr14:35775000-35789200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr14:35775000-35790600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr14:35775800-35789200	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr14:35776400-35789000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr14:35776400-35789000	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr14:35776600-35788800	Strong transcription	Primary T cells fromperipheralblood	blood
17	chr14:35776600-35789000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr14:35776800-35788600	Strong transcription	Primary T helper cells fromperipheralblood	blood
19	chr14:35776800-35789200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
20	chr14:35777000-35789000	Strong transcription	Liver	Liver
21	chr14:35777000-35789400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
22	chr14:35777200-35788600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:35777200-35788800	Strong transcription	Primary neutrophils fromperipheralblood	blood
24	chr14:35777200-35788800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
25	chr14:35777200-35789000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
26	chr14:35777400-35789000	Strong transcription	Adipose Nuclei	Adipose
27	chr14:35777400-35789200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr14:35777600-35789000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:35777600-35789000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr14:35777600-35789000	Strong transcription	Fetal Intestine Large	intestine
31	chr14:35777800-35788600	Strong transcription	HSMM	muscle
32	chr14:35778200-35789200	Strong transcription	Skeletal Muscle Female	skeletal muscle
33	chr14:35778400-35789000	Strong transcription	Duodenum Mucosa	Duodenum
34	chr14:35778400-35790200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:35778400-35790200	Strong transcription	Fetal Muscle Leg	muscle
36	chr14:35778400-35799800	Weak transcription	Stomach Mucosa	stomach
37	chr14:35778600-35789000	Strong transcription	Left Ventricle	heart
38	chr14:35781000-35789800	Weak transcription	Fetal Brain Male	brain
39	chr14:35781800-35788800	Strong transcription	Fetal Muscle Trunk	muscle
40	chr14:35782600-35795200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
41	chr14:35783400-35800600	Weak transcription	NHEK	skin
42	chr14:35784000-35790000	Strong transcription	Fetal Stomach	stomach
43	chr14:35784800-35788600	Strong transcription	Primary T helper cells PMA-I stimulated	--
44	chr14:35784800-35789800	Weak transcription	Aorta	Aorta
45	chr14:35784800-35790000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr14:35784800-35790000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
47	chr14:35784800-35804600	Weak transcription	Ovary	ovary
48	chr14:35784800-35804600	Weak transcription	Psoas Muscle	Psoas
49	chr14:35785400-35800800	Weak transcription	K562	blood
50	chr14:35786000-35788600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin

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