Variant report

Variant	rs57194889
Chromosome Location	chr14:70163399-70163400
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:19)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:19 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr14:70051891..70054400-chr14:70161480..70163976,2	K562	blood:
2	chr14:70155138..70156935-chr14:70161474..70163461,2	MCF-7	breast:
3	chr14:70121974..70124991-chr14:70161364..70163471,3	K562	blood:
4	chr14:70099677..70101802-chr14:70162155..70164214,2	K562	blood:
5	chr14:70161404..70164443-chr14:70166782..70169020,3	MCF-7	breast:
6	chr14:70161886..70163932-chr14:70235857..70237554,2	K562	blood:
7	chr14:70162142..70165646-chr14:70232123..70235793,7	K562	blood:
8	chr14:70162821..70165355-chr14:70166037..70169969,5	K562	blood:
9	chr14:70101968..70105684-chr14:70161055..70164607,3	K562	blood:
10	chr14:70162564..70165318-chr14:70233155..70235298,3	K562	blood:
11	chr14:70162413..70165840-chr14:70166006..70170268,6	K562	blood:
12	chr14:70147594..70149514-chr14:70163354..70164998,2	K562	blood:
13	chr14:70163327..70165190-chr14:70172444..70175243,2	MCF-7	breast:
14	chr14:70160859..70163841-chr14:70176614..70179491,2	K562	blood:
15	chr14:70163123..70165653-chr14:70241721..70243677,2	K562	blood:
16	chr14:70110323..70113249-chr14:70160948..70165525,4	K562	blood:
17	chr14:70077182..70079532-chr14:70162567..70164286,3	K562	blood:
18	chr14:70163089..70166049-chr14:70176674..70179020,3	MCF-7	breast:
19	chr14:70116977..70119354-chr14:70161546..70163880,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction
ENSG00000100650	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs55870632	1.00[AMR][1000 genomes]
rs55988102	1.00[AMR][1000 genomes]
rs56002959	1.00[AMR][1000 genomes]
rs56051240	1.00[AMR][1000 genomes]
rs56808476	1.00[AMR][1000 genomes]
rs56859443	1.00[AMR][1000 genomes]
rs56956469	1.00[AMR][1000 genomes]
rs58140746	1.00[AMR][1000 genomes]
rs58583730	1.00[AMR][1000 genomes]
rs59555734	1.00[AMR][1000 genomes]
rs60085780	1.00[AMR][1000 genomes]
rs60493601	1.00[AMR][1000 genomes]
rs60835679	1.00[AMR][1000 genomes]
rs74060204	1.00[AMR][1000 genomes]
rs74060205	1.00[AMR][1000 genomes]
rs74060219	1.00[AMR][1000 genomes]
rs74060234	1.00[AMR][1000 genomes]
rs74060237	1.00[AMR][1000 genomes]
rs74060267	1.00[AMR][1000 genomes]
rs74060270	1.00[AMR][1000 genomes]
rs74060294	1.00[AMR][1000 genomes]
rs74061831	1.00[AMR][1000 genomes]
rs74061848	1.00[AMR][1000 genomes]
rs74061849	1.00[AMR][1000 genomes]
rs74061850	1.00[AMR][1000 genomes]
rs74061851	1.00[AMR][1000 genomes]
rs74061853	1.00[AMR][1000 genomes]
rs74061856	1.00[AMR][1000 genomes]
rs74061857	1.00[AMR][1000 genomes]
rs74061864	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70156800-70164000	Enhancers	Fetal Muscle Leg	muscle
2	chr14:70157400-70164000	Enhancers	Adipose Nuclei	Adipose
3	chr14:70157600-70165600	Enhancers	Fetal Heart	heart
4	chr14:70157800-70164600	Enhancers	Psoas Muscle	Psoas
5	chr14:70158200-70165600	Enhancers	Skeletal Muscle Female	skeletal muscle
6	chr14:70158200-70166000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
7	chr14:70158400-70165600	Enhancers	Small Intestine	intestine
8	chr14:70158400-70167000	Enhancers	Primary T helper cells PMA-I stimulated	--
9	chr14:70158400-70170000	Enhancers	Primary monocytes fromperipheralblood	blood
10	chr14:70158600-70164600	Enhancers	Spleen	Spleen
11	chr14:70158800-70163400	Enhancers	Primary B cells from peripheral blood	blood
12	chr14:70158800-70163400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr14:70158800-70163600	Enhancers	Liver	Liver
14	chr14:70158800-70164000	Enhancers	Brain Inferior Temporal Lobe	brain
15	chr14:70158800-70164000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:70158800-70164600	Enhancers	Brain Anterior Caudate	brain
17	chr14:70158800-70164600	Enhancers	Brain Cingulate Gyrus	brain
18	chr14:70158800-70164600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
19	chr14:70158800-70164600	Enhancers	Fetal Intestine Large	intestine
20	chr14:70158800-70164800	Enhancers	Fetal Intestine Small	intestine
21	chr14:70158800-70165600	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr14:70159200-70164000	Enhancers	Brain Angular Gyrus	brain
23	chr14:70159200-70164200	Enhancers	Skeletal Muscle Male	skeletal muscle
24	chr14:70159200-70164600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr14:70159200-70164600	Enhancers	Duodenum Smooth Muscle	Duodenum
26	chr14:70159200-70165800	Enhancers	Left Ventricle	heart
27	chr14:70159400-70163600	Enhancers	Right Atrium	heart
28	chr14:70159400-70164000	Enhancers	Colonic Mucosa	Colon
29	chr14:70159400-70164200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
30	chr14:70159400-70164200	Enhancers	Primary T helper cells fromperipheralblood	blood
31	chr14:70159400-70164200	Enhancers	Colon Smooth Muscle	Colon
32	chr14:70159400-70164200	Enhancers	Fetal Thymus	thymus
33	chr14:70159400-70164200	Enhancers	Ovary	ovary
34	chr14:70159400-70164600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
35	chr14:70159400-70165600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr14:70159400-70170200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
37	chr14:70159600-70163400	Enhancers	Fetal Lung	lung
38	chr14:70159600-70163800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
39	chr14:70159600-70164000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
40	chr14:70159600-70164600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr14:70159600-70164600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
42	chr14:70159600-70164600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
43	chr14:70159600-70164600	Enhancers	Primary T killer memory cells from peripheral blood	blood
44	chr14:70159600-70164600	Enhancers	Pancreas	Pancrea
45	chr14:70159800-70164200	Enhancers	Primary T cells from cord blood	blood
46	chr14:70159800-70164200	Enhancers	Primary T killer naive cells fromperipheralblood	blood
47	chr14:70159800-70164200	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
48	chr14:70160000-70165800	Enhancers	Stomach Mucosa	stomach
49	chr14:70160000-70166000	Weak transcription	Aorta	Aorta
50	chr14:70160000-70177600	Weak transcription	Fetal Brain Female	brain

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