Variant report

Variant	rs34614709
Chromosome Location	chr1:227348245-227348246
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs73087677	0.89[AFR][1000 genomes]
rs73089759	1.00[AFR][1000 genomes]
rs73096901	1.00[AFR][1000 genomes]
rs73100824	1.00[AFR][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	nsv1003656	chr1:227034700-227559665	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS 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	35 gene(s)	inside rSNPs	diseases
2	nsv535318	chr1:227034700-227559665	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
3	nsv832792	chr1:227211378-227364992	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv873239	chr1:227222125-227361072	Strong transcription Enhancers Weak transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
5	nsv873240	chr1:227228946-227361072	Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
6	nsv873241	chr1:227242247-227361072	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
7	nsv549270	chr1:227290139-227361072	Genic enhancers Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases
8	esv2830098	chr1:227295716-227422234	Weak transcription Strong transcription Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
9	nsv534002	chr1:227315186-228047108	Bivalent/Poised TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	54 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227259400-227349000	Weak transcription	Colonic Mucosa	Colon
2	chr1:227287400-227360800	Weak transcription	Psoas Muscle	Psoas
3	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
4	chr1:227298600-227351800	Weak transcription	Hela-S3	cervix
5	chr1:227300000-227379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
6	chr1:227316600-227352200	Weak transcription	Gastric	stomach
7	chr1:227317000-227374200	Weak transcription	HepG2	liver
8	chr1:227324200-227348400	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:227326600-227355200	Weak transcription	Small Intestine	intestine
10	chr1:227328000-227354400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
11	chr1:227328400-227350000	Weak transcription	Fetal Brain Male	brain
12	chr1:227328600-227351600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
13	chr1:227328800-227354200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr1:227329600-227358400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
15	chr1:227329600-227380000	Weak transcription	Aorta	Aorta
16	chr1:227329800-227348400	Weak transcription	Fetal Brain Female	brain
17	chr1:227331600-227355000	Weak transcription	Brain Anterior Caudate	brain
18	chr1:227331600-227358400	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:227332800-227350000	Weak transcription	HMEC	breast
20	chr1:227332800-227350200	Weak transcription	Lung	lung
21	chr1:227332800-227354600	Weak transcription	Ovary	ovary
22	chr1:227333000-227349400	Weak transcription	Placenta	Placenta
23	chr1:227333200-227354800	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:227333400-227354000	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr1:227333400-227354400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
26	chr1:227333400-227358400	Weak transcription	Osteobl	bone
27	chr1:227333400-227359000	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr1:227333400-227381000	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr1:227333400-227405600	Weak transcription	Adipose Nuclei	Adipose
30	chr1:227334800-227371800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:227339600-227354000	Weak transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:227343200-227350600	Weak transcription	Stomach Mucosa	stomach
33	chr1:227343200-227352400	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr1:227343200-227400400	Weak transcription	A549	lung
35	chr1:227343600-227358400	Weak transcription	Colon Smooth Muscle	Colon
36	chr1:227346200-227348400	Strong transcription	Liver	Liver
37	chr1:227346200-227348800	Strong transcription	K562	blood
38	chr1:227346800-227349800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr1:227346800-227350000	Weak transcription	Pancreas	Pancrea
40	chr1:227346800-227351200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr1:227346800-227354000	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr1:227346800-227355000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr1:227346800-227357400	Weak transcription	Brain Substantia Nigra	brain
44	chr1:227346800-227357800	Weak transcription	NHDF-Ad	bronchial
45	chr1:227346800-227358000	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr1:227346800-227358200	Weak transcription	Right Ventricle	heart
47	chr1:227346800-227358400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:227346800-227366600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr1:227346800-227379800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
50	chr1:227346800-227403800	Weak transcription	Duodenum Smooth Muscle	Duodenum

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