Variant report

Variant	rs73005928
Chromosome Location	chr1:151881683-151881684
allele	C/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:21)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:21 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:151861522..151872673-chr1:151876647..151885029,20	MCF-7	breast:
2	chr1:151881513..151882345-chr1:152008906..152009524,2	Hela-S3	cervix:
3	chr1:151881661..151883557-chr1:152019981..152021490,2	K562	blood:
4	chr1:151863646..151865677-chr1:151881470..151883641,2	K562	blood:
5	chr1:151881560..151882092-chr13:42622883..42623636,2	Hela-S3	cervix:
6	chr1:151761461..151764001-chr1:151879304..151881821,2	K562	blood:
7	chr1:151879131..151885542-chr1:151961269..151968730,13	MCF-7	breast:
8	chr1:151877897..151883557-chr1:152019456..152022411,7	K562	blood:
9	chr1:151880209..151887387-chr1:151961986..151968084,15	MCF-7	breast:
10	chr1:109642717..109643315-chr1:151881408..151882229,2	Hela-S3	cervix:
11	chr1:151880619..151883226-chr1:151961289..151965303,4	K562	blood:
12	chr1:151842661..151844582-chr1:151879754..151881730,2	K562	blood:
13	chr1:151881424..151882164-chr12:120729278..120729939,2	Hela-S3	cervix:
14	chr1:151881331..151882069-chr3:154041897..154042835,2	HCT-116	colon:
15	chr1:151879353..151883785-chr1:152005989..152009719,8	K562	blood:
16	chr1:151879656..151883388-chr1:152007614..152010954,7	K562	blood:
17	chr1:151822270..151824943-chr1:151880171..151881846,2	MCF-7	breast:
18	chr1:151861954..151864936-chr1:151880646..151882539,4	MCF-7	breast:
19	chr1:151810931..151813859-chr1:151881520..151883452,3	MCF-7	breast:
20	chr1:113498335..113498911-chr1:151881490..151882169,2	HCT-116	colon:
21	chr1:151880725..151882299-chr1:151990398..151992995,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000196407	Chromatin interaction
ENSG00000270066	Chromatin interaction
ENSG00000174953	Chromatin interaction
ENSG00000229021	Chromatin interaction
ENSG00000225556	Chromatin interaction
ENSG00000102780	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000240667	Chromatin interaction
ENSG00000155380	Chromatin interaction
ENSG00000202538	Chromatin interaction
ENSG00000182134	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs6678366	0.84[AFR][1000 genomes]
rs6679547	0.85[AFR][1000 genomes]
rs6690651	0.85[AFR][1000 genomes]
rs73005923	1.00[AFR][1000 genomes]
rs73005925	1.00[AFR][1000 genomes]
rs73005930	1.00[AFR][1000 genomes]
rs73005932	1.00[AFR][1000 genomes]
rs73005933	1.00[AFR][1000 genomes]
rs73005953	0.86[AFR][1000 genomes]
rs73007992	0.85[AFR][1000 genomes]
rs73007999	0.85[AFR][1000 genomes]
rs73009645	0.85[AFR][1000 genomes]
rs73009654	0.85[AFR][1000 genomes]
rs73009658	0.85[AFR][1000 genomes]
rs73009663	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547852	chr1:151843044-151955230	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases
5	nsv872441	chr1:151850072-152034430	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	191 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151880200-151882800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
2	chr1:151880400-151883000	Active TSS	iPS-15b Cell Line	embryonic stem cell
3	chr1:151880600-151882400	Active TSS	Fetal Kidney	kidney
4	chr1:151880600-151882600	Active TSS	HepG2	liver
5	chr1:151880600-151883400	Active TSS	ES-I3 Cell Line	embryonic stem cell
6	chr1:151880800-151881800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
7	chr1:151880800-151881800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr1:151880800-151881800	Flanking Active TSS	HUVEC	blood vessel
9	chr1:151880800-151882200	Active TSS	HMEC	breast
10	chr1:151880800-151882400	Active TSS	NHEK	skin
11	chr1:151880800-151882600	Active TSS	iPS-18 Cell Line	embryonic stem cell
12	chr1:151880800-151882600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr1:151880800-151882600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
14	chr1:151880800-151882600	Active TSS	Duodenum Smooth Muscle	Duodenum
15	chr1:151880800-151882600	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr1:151881000-151881800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr1:151881000-151882000	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr1:151881000-151882400	Active TSS	Primary hematopoietic stem cells short term culture	blood
19	chr1:151881000-151882400	Active TSS	Brain Inferior Temporal Lobe	brain
20	chr1:151881000-151882400	Active TSS	Duodenum Mucosa	Duodenum
21	chr1:151881000-151882600	Active TSS	HUES48 Cell Line	embryonic stem cell
22	chr1:151881000-151882600	Active TSS	Breast Myoepithelial Primary Cells	Breast
23	chr1:151881000-151882600	Active TSS	Muscle Satellite Cultured Cells	--
24	chr1:151881000-151882600	Active TSS	K562	blood
25	chr1:151881000-151882800	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:151881000-151882800	Active TSS	Colonic Mucosa	Colon
27	chr1:151881000-151883000	Active TSS	H9 Cell Line	embryonic stem cell
28	chr1:151881000-151883000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr1:151881000-151883000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:151881000-151883000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
31	chr1:151881000-151883000	Active TSS	GM12878-XiMat	blood
32	chr1:151881000-151883400	Active TSS	HUES6 Cell Line	embryonic stem cell
33	chr1:151881200-151881800	Flanking Active TSS	Primary hematopoietic stem cells	blood
34	chr1:151881200-151881800	Active TSS	Thymus	Thymus
35	chr1:151881200-151882000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:151881200-151882200	Active TSS	Fetal Muscle Trunk	muscle
37	chr1:151881200-151882400	Active TSS	NH-A	brain
38	chr1:151881200-151882600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr1:151881200-151882600	Active TSS	Brain Anterior Caudate	brain
40	chr1:151881200-151882600	Active TSS	Fetal Heart	heart
41	chr1:151881200-151882600	Active TSS	Pancreatic Islets	Pancreatic Islet
42	chr1:151881200-151882800	Active TSS	HUES64 Cell Line	embryonic stem cell
43	chr1:151881200-151882800	Active TSS	Brain Hippocampus Middle	brain
44	chr1:151881200-151882800	Active TSS	Right Ventricle	heart
45	chr1:151881200-151882800	Active TSS	NHLF	lung
46	chr1:151881200-151883000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr1:151881200-151883000	Active TSS	Aorta	Aorta
48	chr1:151881200-151883000	Active TSS	Fetal Intestine Large	intestine
49	chr1:151881200-151883000	Active TSS	Psoas Muscle	Psoas
50	chr1:151881200-151883000	Active TSS	Rectal Smooth Muscle	rectum

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