Variant report

Variant	rs17128488
Chromosome Location	chr14:55917537-55917538
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:55913503..55916476-chr14:55916660..55918746,2	K562	blood:
2	chr14:55917476..55919752-chr14:55927927..55929751,2	MCF-7	breast:
3	chr14:55911475..55914836-chr14:55916178..55919121,4	MCF-7	breast:
4	chr14:55912884..55915003-chr14:55916118..55918746,2	K562	blood:

Extended variants
information (count: 32 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10483641	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128484	0.82[CEU][hapmap];0.89[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17128493	0.99[AFR][1000 genomes]
rs17672950	0.88[CEU][hapmap]
rs17673930	0.88[CEU][hapmap]
rs17675052	0.88[CEU][hapmap]
rs17740413	0.88[CEU][hapmap]
rs17741681	0.88[CEU][hapmap]
rs17741825	0.88[CEU][hapmap]
rs17743484	1.00[CEU][hapmap];0.88[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17743595	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17744929	1.00[ASN][1000 genomes]
rs17745017	1.00[ASN][1000 genomes]
rs1959443	1.00[CEU][hapmap];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1984988	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41299189	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41437744	1.00[CEU][hapmap];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs45612333	0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59169706	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713473	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713474	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs713475	1.00[CEU][hapmap];0.87[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8015252	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv901958	chr14:55822095-56045411	Enhancers Weak transcription Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	20 gene(s)	inside rSNPs	diseases
2	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
3	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
4	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
5	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
6	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
7	nsv564874	chr14:55879685-56027815	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	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
9	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

No data

Chromatin state (count:51 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:55912600-55922000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
2	chr14:55913000-55919000	Enhancers	Breast Myoepithelial Primary Cells	Breast
3	chr14:55913600-55921200	Weak transcription	HSMMtube	muscle
4	chr14:55913600-55925000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr14:55913800-55917600	Weak transcription	Rectal Mucosa Donor 29	rectum
6	chr14:55913800-55918200	Weak transcription	Left Ventricle	heart
7	chr14:55913800-55919200	Enhancers	Fetal Heart	heart
8	chr14:55913800-55920400	Weak transcription	HUES6 Cell Line	embryonic stem cell
9	chr14:55914000-55920600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr14:55914000-55920600	Weak transcription	Duodenum Smooth Muscle	Duodenum
11	chr14:55914000-55921000	Weak transcription	Brain Anterior Caudate	brain
12	chr14:55915000-55917600	Weak transcription	Esophagus	oesophagus
13	chr14:55915000-55918000	Weak transcription	Right Atrium	heart
14	chr14:55915000-55918600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr14:55915200-55918600	Weak transcription	Fetal Stomach	stomach
16	chr14:55915200-55920600	Weak transcription	Duodenum Mucosa	Duodenum
17	chr14:55915400-55918000	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr14:55915400-55918200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
19	chr14:55915400-55918200	Weak transcription	Fetal Muscle Leg	muscle
20	chr14:55915400-55919000	Enhancers	NHEK	skin
21	chr14:55915400-55920600	Weak transcription	Colon Smooth Muscle	Colon
22	chr14:55915600-55917600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr14:55915600-55918000	Weak transcription	Muscle Satellite Cultured Cells	--
24	chr14:55915600-55918000	Weak transcription	NHLF	lung
25	chr14:55915600-55918200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr14:55915600-55918200	Weak transcription	NHDF-Ad	bronchial
27	chr14:55915600-55921000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr14:55915800-55918200	Weak transcription	NH-A	brain
29	chr14:55915800-55920800	Weak transcription	Fetal Brain Female	brain
30	chr14:55916200-55917600	Enhancers	Rectal Mucosa Donor 31	rectum
31	chr14:55916200-55918200	Weak transcription	Osteobl	bone
32	chr14:55916400-55917600	Weak transcription	HMEC	breast
33	chr14:55916600-55917600	Weak transcription	A549	lung
34	chr14:55916600-55918200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr14:55916600-55918800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
36	chr14:55916600-55919000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
37	chr14:55916600-55920600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr14:55916800-55917800	Weak transcription	Hela-S3	cervix
39	chr14:55916800-55918800	Enhancers	Stomach Mucosa	stomach
40	chr14:55916800-55919000	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr14:55917000-55921000	Enhancers	HUVEC	blood vessel
42	chr14:55917000-55921400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr14:55917200-55918600	Enhancers	Primary monocytes fromperipheralblood	blood
44	chr14:55917400-55917600	Enhancers	Small Intestine	intestine
45	chr14:55917400-55917800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr14:55917400-55918400	Enhancers	Sigmoid Colon	Sigmoid Colon
47	chr14:55917400-55918600	Enhancers	Cortex derived primary cultured neurospheres	brain
48	chr14:55917400-55918600	Enhancers	Brain Hippocampus Middle	brain
49	chr14:55917400-55918800	Enhancers	Primary hematopoietic stem cells	blood
50	chr14:55917400-55921000	Enhancers	Fetal Adrenal Gland	Adrenal Gland

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