Variant report

Variant	rs28701139
Chromosome Location	chr14:35277442-35277443
allele	A/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:35277341..35283616-chr14:35341500..35345022,6	MCF-7	breast:
2	chr14:35276280..35277782-chr14:35280404..35281934,2	K562	blood:

Variant related genes	Relation type
ENSG00000198604	Chromatin interaction
ENSG00000258738	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10131554	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10143208	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10146953	1.00[AMR][1000 genomes]
rs10147300	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147386	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10147966	1.00[AMR][1000 genomes]
rs10148768	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10149825	0.89[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs10151586	1.00[AMR][1000 genomes]
rs10162531	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28489895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28571108	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28612125	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28613490	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28735013	0.94[AFR][1000 genomes]
rs9806067	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392700	chr14:34989406-35365530	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
2	nsv1041857	chr14:35084889-35417180	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
3	nsv1051540	chr14:35200858-35278635	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv1052162	chr14:35245349-35451187	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
5	nsv1053722	chr14:35257458-35465784	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	55 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:35221400-35280800	Strong transcription	Primary T helper cells PMA-I stimulated	--
2	chr14:35231200-35291800	Weak transcription	Fetal Brain Male	brain
3	chr14:35232600-35293200	Weak transcription	Fetal Kidney	kidney
4	chr14:35234200-35311600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr14:35251600-35284000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
6	chr14:35252200-35301000	Weak transcription	Psoas Muscle	Psoas
7	chr14:35252600-35277800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:35257400-35282000	Strong transcription	Fetal Thymus	thymus
9	chr14:35260400-35283400	Strong transcription	Dnd41	blood
10	chr14:35262400-35279400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr14:35262600-35283200	Strong transcription	Primary monocytes fromperipheralblood	blood
12	chr14:35262600-35283800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr14:35265000-35278200	Weak transcription	Brain Substantia Nigra	brain
14	chr14:35265000-35296000	Weak transcription	Colon Smooth Muscle	Colon
15	chr14:35267800-35277600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr14:35267800-35292200	Weak transcription	Right Ventricle	heart
17	chr14:35268600-35280600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr14:35269000-35282600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr14:35269200-35298000	Weak transcription	Ovary	ovary
20	chr14:35269400-35322200	Weak transcription	Fetal Brain Female	brain
21	chr14:35269400-35341600	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr14:35269800-35290000	Weak transcription	Placenta	Placenta
23	chr14:35270200-35286800	Weak transcription	Fetal Heart	heart
24	chr14:35270400-35303400	Weak transcription	Stomach Mucosa	stomach
25	chr14:35271800-35291400	Weak transcription	Spleen	Spleen
26	chr14:35271800-35326400	Weak transcription	Esophagus	oesophagus
27	chr14:35272000-35290000	Weak transcription	Small Intestine	intestine
28	chr14:35272000-35296200	Weak transcription	Brain Germinal Matrix	brain
29	chr14:35272200-35279400	Weak transcription	HUES48 Cell Line	embryonic stem cell
30	chr14:35272200-35279400	Weak transcription	NH-A	brain
31	chr14:35272200-35291200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr14:35272400-35278600	Weak transcription	Stomach Smooth Muscle	stomach
33	chr14:35272400-35279400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr14:35272400-35290800	Weak transcription	Fetal Stomach	stomach
35	chr14:35272400-35300200	Weak transcription	Rectal Smooth Muscle	rectum
36	chr14:35272400-35333600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
37	chr14:35273400-35278200	Strong transcription	Primary T cells fromperipheralblood	blood
38	chr14:35273400-35280200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr14:35273800-35280200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr14:35273800-35282600	Strong transcription	Primary B cells from peripheral blood	blood
41	chr14:35274200-35311800	Weak transcription	HSMMtube	muscle
42	chr14:35274400-35282200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
43	chr14:35274400-35282200	Weak transcription	Lung	lung
44	chr14:35274400-35296400	Weak transcription	Aorta	Aorta
45	chr14:35274400-35303400	Weak transcription	Left Ventricle	heart
46	chr14:35274400-35312400	Weak transcription	Gastric	stomach
47	chr14:35274600-35278000	Weak transcription	Brain Anterior Caudate	brain
48	chr14:35274600-35278200	Weak transcription	Adipose Nuclei	Adipose
49	chr14:35274600-35282200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr14:35274600-35293000	Weak transcription	Fetal Lung	lung

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