Variant report

Variant	rs10136120
Chromosome Location	chr14:56072086-56072087
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:56053879..56055533-chr14:56070490..56072513,2	K562	blood:
2	chr14:56045563..56049831-chr14:56070021..56074059,4	MCF-7	breast:
3	chr14:56053518..56055259-chr14:56070896..56073206,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000186615	Chromatin interaction
ENSG00000126777	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs10131087	1.00[YRI][hapmap];0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10138893	1.00[GIH][hapmap];0.83[LWK][hapmap];1.00[MEX][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs10498476	1.00[ASN][1000 genomes]
rs17128653	1.00[YRI][hapmap];0.86[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs28456234	0.89[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7140434	0.92[ASW][hapmap];1.00[GIH][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.81[MKK][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.94[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][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	nsv901960	chr14:55853724-56085130	Weak transcription Active TSS Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
2	nsv901961	chr14:55853724-56101879	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
3	nsv901962	chr14:55862956-56101879	Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
4	nsv901963	chr14:55871452-56085130	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
5	nsv901964	chr14:55871452-56101879	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
6	nsv1051564	chr14:55895610-56130788	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
7	nsv542103	chr14:55895610-56130788	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
8	nsv901965	chr14:55976428-56101879	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:56048400-56086000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr14:56052000-56080200	Weak transcription	Primary T cells fromperipheralblood	blood
3	chr14:56056200-56076000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr14:56061000-56085400	Weak transcription	Fetal Kidney	kidney
5	chr14:56061000-56085400	Weak transcription	Rectal Smooth Muscle	rectum
6	chr14:56061200-56082400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr14:56064200-56082800	Weak transcription	Stomach Smooth Muscle	stomach
8	chr14:56066400-56079000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
9	chr14:56066400-56079800	Weak transcription	K562	blood
10	chr14:56066600-56072400	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr14:56066600-56076200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr14:56066600-56079000	Weak transcription	Fetal Intestine Large	intestine
13	chr14:56066600-56079200	Weak transcription	Placenta	Placenta
14	chr14:56066600-56086200	Weak transcription	Fetal Intestine Small	intestine
15	chr14:56066600-56086200	Weak transcription	Gastric	stomach
16	chr14:56066800-56079200	Weak transcription	Duodenum Mucosa	Duodenum
17	chr14:56066800-56080000	Weak transcription	Fetal Muscle Leg	muscle
18	chr14:56066800-56086200	Weak transcription	Fetal Stomach	stomach
19	chr14:56067400-56074600	Enhancers	HepG2	liver
20	chr14:56067600-56080600	Weak transcription	GM12878-XiMat	blood
21	chr14:56067800-56075800	Weak transcription	NHLF	lung
22	chr14:56067800-56079000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr14:56067800-56082200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr14:56068000-56072200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr14:56068000-56081400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr14:56068400-56072200	Enhancers	Right Ventricle	heart
27	chr14:56068400-56072400	Weak transcription	NHEK	skin
28	chr14:56068600-56072200	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:56068600-56074200	Weak transcription	HMEC	breast
30	chr14:56068600-56080400	Weak transcription	Fetal Muscle Trunk	muscle
31	chr14:56068600-56086200	Weak transcription	Spleen	Spleen
32	chr14:56068600-56086600	Weak transcription	Lung	lung
33	chr14:56068800-56072200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
34	chr14:56068800-56072200	Weak transcription	Osteobl	bone
35	chr14:56068800-56072400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr14:56068800-56075800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr14:56068800-56075800	Weak transcription	Ovary	ovary
38	chr14:56068800-56080600	Weak transcription	Esophagus	oesophagus
39	chr14:56068800-56081000	Weak transcription	Liver	Liver
40	chr14:56069000-56072200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
41	chr14:56069400-56072600	Enhancers	Skeletal Muscle Male	skeletal muscle
42	chr14:56069400-56073000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr14:56069600-56075400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr14:56069600-56079000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr14:56069600-56086800	Weak transcription	Pancreas	Pancrea
46	chr14:56069800-56072400	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
47	chr14:56069800-56073000	Enhancers	Fetal Heart	heart
48	chr14:56069800-56073800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr14:56069800-56074000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr14:56069800-56079200	Weak transcription	Primary T cells from cord blood	blood

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