Variant report

Variant	rs6697304
Chromosome Location	chr1:227354375-227354376
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs72748189	1.00[ASN][1000 genomes]
rs72755348	1.00[ASN][1000 genomes]
rs72760489	1.00[ASN][1000 genomes]
rs72762383	1.00[ASN][1000 genomes]
rs73086756	1.00[ASN][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:68 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:227287400-227360800	Weak transcription	Psoas Muscle	Psoas
2	chr1:227288400-227398000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
3	chr1:227300000-227379800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr1:227317000-227374200	Weak transcription	HepG2	liver
5	chr1:227326600-227355200	Weak transcription	Small Intestine	intestine
6	chr1:227328000-227354400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr1:227329600-227358400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr1:227329600-227380000	Weak transcription	Aorta	Aorta
9	chr1:227331600-227355000	Weak transcription	Brain Anterior Caudate	brain
10	chr1:227331600-227358400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr1:227332800-227354600	Weak transcription	Ovary	ovary
12	chr1:227333200-227354800	Weak transcription	Stomach Smooth Muscle	stomach
13	chr1:227333400-227354400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr1:227333400-227358400	Weak transcription	Osteobl	bone
15	chr1:227333400-227359000	Weak transcription	Skeletal Muscle Male	skeletal muscle
16	chr1:227333400-227381000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr1:227333400-227405600	Weak transcription	Adipose Nuclei	Adipose
18	chr1:227334800-227371800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr1:227343200-227400400	Weak transcription	A549	lung
20	chr1:227343600-227358400	Weak transcription	Colon Smooth Muscle	Colon
21	chr1:227346800-227355000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr1:227346800-227357400	Weak transcription	Brain Substantia Nigra	brain
23	chr1:227346800-227357800	Weak transcription	NHDF-Ad	bronchial
24	chr1:227346800-227358000	Weak transcription	Muscle Satellite Cultured Cells	--
25	chr1:227346800-227358200	Weak transcription	Right Ventricle	heart
26	chr1:227346800-227358400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr1:227346800-227366600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr1:227346800-227379800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
29	chr1:227346800-227403800	Weak transcription	Duodenum Smooth Muscle	Duodenum
30	chr1:227346800-227405800	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:227346800-227406800	Weak transcription	Fetal Kidney	kidney
32	chr1:227347200-227378000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr1:227347800-227357400	Weak transcription	Left Ventricle	heart
34	chr1:227347800-227363600	Weak transcription	Fetal Stomach	stomach
35	chr1:227347800-227385800	Weak transcription	Fetal Intestine Small	intestine
36	chr1:227347800-227390400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
37	chr1:227348000-227358200	Weak transcription	Brain Hippocampus Middle	brain
38	chr1:227348000-227358400	Weak transcription	Brain Inferior Temporal Lobe	brain
39	chr1:227348000-227361000	Weak transcription	NHEK	skin
40	chr1:227348200-227354400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
41	chr1:227348200-227354400	Weak transcription	Fetal Intestine Large	intestine
42	chr1:227348200-227357800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:227348200-227358000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr1:227348200-227358000	Weak transcription	HSMM	muscle
45	chr1:227348200-227358200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr1:227348200-227358200	Weak transcription	Brain Angular Gyrus	brain
47	chr1:227348200-227361000	Weak transcription	HSMMtube	muscle
48	chr1:227348200-227367600	Weak transcription	Cortex derived primary cultured neurospheres	brain
49	chr1:227348200-227370200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr1:227348200-227370400	Weak transcription	Breast Myoepithelial Primary Cells	Breast

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