Variant report

Variant	rs16835349
Chromosome Location	chr1:153462681-153462682
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:153445167..153447773-chr1:153461159..153464090,2	MCF-7	breast:
2	chr1:153323483..153340048-chr1:153448254..153469845,61	MCF-7	breast:
3	chr1:153362845..153364948-chr1:153461555..153463988,2	MCF-7	breast:
4	chr1:153434339..153436072-chr1:153461738..153464674,2	MCF-7	breast:
5	chr1:153452726..153455263-chr1:153460858..153463511,2	MCF-7	breast:
6	chr1:153320974..153341807-chr1:153456098..153486349,81	MCF-7	breast:
7	chr1:153354527..153358677-chr1:153460629..153464225,4	MCF-7	breast:
8	chr1:153449114..153453479-chr1:153459428..153463150,4	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000163218	Chromatin interaction
ENSG00000143546	Chromatin interaction
ENSG00000163220	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs16835344	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16835352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2986203	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2986204	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2986205	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2986207	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3006432	1.00[AMR][1000 genomes]
rs3014830	1.00[AMR][1000 genomes]
rs3014844	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3014852	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3118476	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58408424	1.00[AMR][1000 genomes]
rs60387319	1.00[AMR][1000 genomes]
rs73022422	1.00[AMR][1000 genomes]
rs73022487	1.00[AMR][1000 genomes]
rs73022488	1.00[AMR][1000 genomes]
rs73022493	1.00[AMR][1000 genomes]
rs73022495	1.00[AMR][1000 genomes]
rs73024403	1.00[AMR][1000 genomes]
rs73024405	1.00[AMR][1000 genomes]
rs73024413	1.00[AMR][1000 genomes]
rs73024414	1.00[AMR][1000 genomes]
rs73024423	1.00[AMR][1000 genomes]
rs9003	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1010488	chr1:152901263-153670972	Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
2	nsv535171	chr1:152901263-153670972	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	236 gene(s)	inside rSNPs	diseases
3	nsv533877	chr1:152923645-153468131	Enhancers Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Active TSS Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
4	nsv1002705	chr1:153307852-153525589	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	152 gene(s)	inside rSNPs	diseases
5	nsv831603	chr1:153405842-153576143	Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	148 gene(s)	inside rSNPs	diseases
6	nsv1007306	chr1:153413827-153541798	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	146 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:56 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:153451000-153467400	Weak transcription	Ovary	ovary
2	chr1:153457200-153465800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
3	chr1:153459000-153467800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:153460400-153463000	Enhancers	Skeletal Muscle Male	skeletal muscle
5	chr1:153460600-153464400	Enhancers	Fetal Heart	heart
6	chr1:153461000-153463000	Enhancers	HMEC	breast
7	chr1:153461000-153464400	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr1:153461000-153465000	Enhancers	Fetal Muscle Leg	muscle
9	chr1:153461200-153462800	Enhancers	Left Ventricle	heart
10	chr1:153461200-153462800	Enhancers	Right Atrium	heart
11	chr1:153461200-153463400	Enhancers	Fetal Brain Male	brain
12	chr1:153461200-153464000	Enhancers	Lung	lung
13	chr1:153461200-153464400	Enhancers	Fetal Muscle Trunk	muscle
14	chr1:153461200-153464400	Enhancers	Rectal Smooth Muscle	rectum
15	chr1:153461400-153462800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
16	chr1:153461400-153462800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
17	chr1:153461400-153462800	Weak transcription	Stomach Smooth Muscle	stomach
18	chr1:153461600-153462800	Weak transcription	Brain Inferior Temporal Lobe	brain
19	chr1:153461600-153463800	Weak transcription	Duodenum Smooth Muscle	Duodenum
20	chr1:153461600-153467600	Weak transcription	Psoas Muscle	Psoas
21	chr1:153462000-153463000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr1:153462000-153463800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
23	chr1:153462000-153464400	Enhancers	Esophagus	oesophagus
24	chr1:153462200-153463000	Enhancers	Right Ventricle	heart
25	chr1:153462200-153463800	Enhancers	NH-A	brain
26	chr1:153462200-153464000	Enhancers	Brain Angular Gyrus	brain
27	chr1:153462200-153464600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
28	chr1:153462200-153464600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
29	chr1:153462400-153463400	Weak transcription	Aorta	Aorta
30	chr1:153462400-153464400	Enhancers	NHLF	lung
31	chr1:153462600-153462800	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:153462600-153462800	Flanking Active TSS	Osteobl	bone
33	chr1:153462600-153463000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
34	chr1:153462600-153463000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
35	chr1:153462600-153463000	Enhancers	Muscle Satellite Cultured Cells	--
36	chr1:153462600-153463000	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
37	chr1:153462600-153463000	Enhancers	NHDF-Ad	bronchial
38	chr1:153462600-153463200	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
39	chr1:153462600-153463200	Enhancers	HSMM	muscle
40	chr1:153462600-153463400	Enhancers	ES-I3 Cell Line	embryonic stem cell
41	chr1:153462600-153463400	Enhancers	Pancreas	Pancrea
42	chr1:153462600-153463400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
43	chr1:153462600-153463400	Enhancers	Stomach Mucosa	stomach
44	chr1:153462600-153463400	Flanking Active TSS	NHEK	skin
45	chr1:153462600-153463600	Enhancers	Cortex derived primary cultured neurospheres	brain
46	chr1:153462600-153463600	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:153462600-153463600	Enhancers	Brain Anterior Caudate	brain
48	chr1:153462600-153463600	Enhancers	Brain Cingulate Gyrus	brain
49	chr1:153462600-153463600	Enhancers	A549	lung
50	chr1:153462600-153463800	Flanking Active TSS	Hela-S3	cervix

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