Variant report

Variant	rs13374547
Chromosome Location	chr1:185169173-185169174
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs10218494	1.00[EUR][1000 genomes]
rs10429841	1.00[EUR][1000 genomes]
rs11803823	0.86[JPT][hapmap]
rs12240119	1.00[EUR][1000 genomes]
rs16823736	1.00[EUR][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	nsv1001323	chr1:184525419-185315876	Weak transcription Active TSS Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer 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	69 gene(s)	inside rSNPs	diseases
2	nsv535222	chr1:184525419-185315876	Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases
3	nsv521613	chr1:185071831-185171869	Flanking Active TSS Strong transcription Weak transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv548398	chr1:185136458-186003094	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	69 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:60 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:185127200-185169800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr1:185127400-185192000	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr1:185127600-185170000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:185127600-185184600	Weak transcription	Psoas Muscle	Psoas
5	chr1:185127600-185218200	Weak transcription	Right Ventricle	heart
6	chr1:185128400-185193800	Weak transcription	Brain Angular Gyrus	brain
7	chr1:185128400-185201800	Weak transcription	Gastric	stomach
8	chr1:185128600-185171400	Weak transcription	Fetal Brain Male	brain
9	chr1:185131600-185173000	Weak transcription	Brain Substantia Nigra	brain
10	chr1:185134000-185170600	Weak transcription	Lung	lung
11	chr1:185134600-185193200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr1:185136800-185171200	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr1:185137200-185177200	Weak transcription	Primary B cells from cord blood	blood
14	chr1:185137200-185191400	Weak transcription	Brain Anterior Caudate	brain
15	chr1:185137400-185177400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr1:185137400-185191200	Weak transcription	Brain Hippocampus Middle	brain
17	chr1:185137400-185191400	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:185138000-185182200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
19	chr1:185138000-185186200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
20	chr1:185138000-185204000	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:185138200-185171400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
22	chr1:185139600-185177400	Weak transcription	Fetal Kidney	kidney
23	chr1:185139800-185191400	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr1:185140000-185190800	Weak transcription	Primary B cells from peripheral blood	blood
25	chr1:185140000-185191600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr1:185144800-185181200	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr1:185145000-185170400	Weak transcription	Pancreas	Pancrea
28	chr1:185145000-185182400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr1:185145200-185191400	Weak transcription	Stomach Smooth Muscle	stomach
30	chr1:185148400-185193400	Weak transcription	Fetal Thymus	thymus
31	chr1:185151000-185193200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
32	chr1:185152200-185200800	Weak transcription	Primary T cells fromperipheralblood	blood
33	chr1:185153200-185191600	Weak transcription	Aorta	Aorta
34	chr1:185154400-185191600	Weak transcription	Ovary	ovary
35	chr1:185158600-185169600	Weak transcription	Fetal Stomach	stomach
36	chr1:185158600-185176400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr1:185159600-185177600	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr1:185160000-185192600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:185160600-185191600	Weak transcription	Brain Germinal Matrix	brain
40	chr1:185160800-185192000	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr1:185161800-185170000	Weak transcription	Adipose Nuclei	Adipose
42	chr1:185161800-185191400	Weak transcription	Primary T helper cells fromperipheralblood	blood
43	chr1:185162000-185190800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr1:185162200-185170400	Weak transcription	Left Ventricle	heart
45	chr1:185162200-185173800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
46	chr1:185163200-185170400	Weak transcription	Brain Cingulate Gyrus	brain
47	chr1:185163600-185190600	Weak transcription	Placenta	Placenta
48	chr1:185164200-185169400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:185165000-185169600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr1:185166200-185170400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--

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