Variant report

Variant	rs28635949
Chromosome Location	chr14:34926428-34926429
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:34923565..34925509-chr14:34925743..34927516,2	MCF-7	breast:
2	chr14:34925027..34927369-chr14:34965099..34966912,2	K562	blood:
3	chr14:34924779..34927186-chr14:35023587..35025160,2	K562	blood:

Extended variants
information (count: 39 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:28)

rs_ID	r²[population]
rs10132233	0.84[ASN][1000 genomes]
rs10137714	0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs10144582	0.84[ASN][1000 genomes]
rs12432137	0.87[ASN][1000 genomes]
rs12434081	0.85[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2002517	0.94[ASN][1000 genomes]
rs2383633	0.88[ASN][1000 genomes]
rs2383634	0.94[ASN][1000 genomes]
rs28521575	0.95[ASN][1000 genomes]
rs4981241	0.90[ASN][1000 genomes]
rs4982178	0.87[ASN][1000 genomes]
rs4982179	0.90[ASN][1000 genomes]
rs4982180	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4982182	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs56241228	0.82[ASN][1000 genomes]
rs56728642	0.88[ASN][1000 genomes]
rs57186368	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs58203673	0.91[ASN][1000 genomes]
rs58663784	0.95[ASN][1000 genomes]
rs59394498	0.90[ASN][1000 genomes]
rs61472699	0.84[AFR][1000 genomes];0.90[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7152281	0.94[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7154588	0.82[ASN][1000 genomes]
rs7156841	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74046052	0.84[ASN][1000 genomes]
rs74046054	0.88[ASN][1000 genomes]
rs74046057	0.92[AFR][1000 genomes];0.99[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9783638	0.88[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1040980	chr14:34345018-35255592	Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv1051104	chr14:34592378-35007083	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv949738	chr14:34616331-34990688	Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS 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 miRNA target site	14 gene(s)	inside rSNPs	diseases
4	nsv564192	chr14:34725233-34996507	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
5	nsv564193	chr14:34728127-35000188	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
6	nsv528989	chr14:34744426-34998705	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv1054949	chr14:34834260-34992049	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
8	nsv542025	chr14:34834260-34992049	Strong transcription Enhancers Weak transcription Genic enhancers Active TSS Flanking Active TSS 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	13 gene(s)	inside rSNPs	diseases
9	nsv1050218	chr14:34851521-34969433	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
10	nsv1048369	chr14:34886956-34974774	Strong transcription Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
11	nsv901600	chr14:34895977-35010041	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:108 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:34901800-34929400	Weak transcription	K562	blood
2	chr14:34906800-34928800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:34906800-34928800	Weak transcription	NH-A	brain
4	chr14:34906800-34930200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr14:34907200-34930000	Weak transcription	Primary B cells from cord blood	blood
6	chr14:34907400-34929800	Weak transcription	Psoas Muscle	Psoas
7	chr14:34907400-34930000	Weak transcription	Small Intestine	intestine
8	chr14:34911800-34929200	Weak transcription	Colon Smooth Muscle	Colon
9	chr14:34912000-34930000	Weak transcription	Right Ventricle	heart
10	chr14:34913000-34927000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
11	chr14:34913800-34927200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
12	chr14:34915000-34929600	Weak transcription	Primary T cells from cord blood	blood
13	chr14:34915000-34930000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr14:34915200-34927000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:34915200-34929200	Weak transcription	Brain Anterior Caudate	brain
16	chr14:34916000-34929000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr14:34917600-34930400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr14:34917600-34930800	Weak transcription	Spleen	Spleen
19	chr14:34917800-34930000	Weak transcription	Brain Cingulate Gyrus	brain
20	chr14:34918000-34930000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr14:34918000-34930600	Weak transcription	Primary T cells fromperipheralblood	blood
22	chr14:34918400-34929000	Weak transcription	Osteobl	bone
23	chr14:34918600-34930000	Weak transcription	Aorta	Aorta
24	chr14:34920000-34929000	Weak transcription	Dnd41	blood
25	chr14:34920000-34930000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
26	chr14:34920200-34929000	Weak transcription	Fetal Lung	lung
27	chr14:34920200-34929000	Weak transcription	HMEC	breast
28	chr14:34920200-34930600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr14:34920400-34928800	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr14:34920400-34930000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
31	chr14:34920600-34926600	Weak transcription	Fetal Heart	heart
32	chr14:34920600-34927000	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr14:34920600-34929000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:34920600-34929400	Weak transcription	Duodenum Smooth Muscle	Duodenum
35	chr14:34920600-34930200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr14:34920800-34929200	Weak transcription	HUVEC	blood vessel
37	chr14:34920800-34930200	Weak transcription	Primary B cells from peripheral blood	blood
38	chr14:34921400-34929000	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr14:34921400-34930600	Weak transcription	Esophagus	oesophagus
40	chr14:34921400-34930600	Weak transcription	Pancreas	Pancrea
41	chr14:34922000-34926800	Strong transcription	Monocytes-CD14+_RO01746	blood
42	chr14:34922200-34930400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
43	chr14:34922400-34930200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr14:34922600-34926600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr14:34922600-34927000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr14:34922600-34930200	Weak transcription	Colonic Mucosa	Colon
47	chr14:34922800-34926800	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr14:34922800-34928800	Weak transcription	Skeletal Muscle Female	skeletal muscle
49	chr14:34922800-34929800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:34922800-34929800	Weak transcription	Brain Angular Gyrus	brain

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