Variant report

Variant	rs58945259
Chromosome Location	chr1:151879412-151879413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:151861522..151872673-chr1:151876647..151885029,20	MCF-7	breast:
2	chr1:151879069..151881570-chr1:151943407..151945574,2	K562	blood:
3	chr1:151761461..151764001-chr1:151879304..151881821,2	K562	blood:
4	chr1:151879131..151885542-chr1:151961269..151968730,13	MCF-7	breast:
5	chr1:151878724..151881573-chr1:151882113..151884102,2	MCF-7	breast:
6	chr1:151877897..151883557-chr1:152019456..152022411,7	K562	blood:
7	chr1:151879353..151883785-chr1:152005989..152009719,8	K562	blood:

Variant related genes	Relation type
ENSG00000229021	Chromatin interaction
ENSG00000159445	Chromatin interaction
ENSG00000163191	Chromatin interaction
ENSG00000203288	Chromatin interaction
ENSG00000197747	Chromatin interaction
ENSG00000182134	Chromatin interaction

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

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

rs_ID	r²[population]
rs59314058	0.85[AFR][1000 genomes]
rs61206148	0.82[AFR][1000 genomes]
rs73005926	0.90[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73009653	0.85[AFR][1000 genomes];1.00[ASN][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:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:151831000-151881400	Weak transcription	Ovary	ovary
2	chr1:151841200-151880800	Weak transcription	NHLF	lung
3	chr1:151844400-151881200	Weak transcription	Aorta	Aorta
4	chr1:151854000-151880200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
5	chr1:151860800-151879800	Weak transcription	Brain Angular Gyrus	brain
6	chr1:151861600-151879800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
7	chr1:151862400-151880400	Weak transcription	Colon Smooth Muscle	Colon
8	chr1:151864800-151881400	Weak transcription	Brain Substantia Nigra	brain
9	chr1:151866200-151879600	Weak transcription	NHDF-Ad	bronchial
10	chr1:151866200-151880200	Weak transcription	Rectal Mucosa Donor 31	rectum
11	chr1:151866600-151879800	Weak transcription	Fetal Muscle Trunk	muscle
12	chr1:151867200-151879600	Weak transcription	Fetal Stomach	stomach
13	chr1:151868000-151879800	Weak transcription	Liver	Liver
14	chr1:151868000-151880200	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:151868000-151880400	Weak transcription	Stomach Smooth Muscle	stomach
16	chr1:151868000-151880800	Weak transcription	Duodenum Smooth Muscle	Duodenum
17	chr1:151871400-151879800	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr1:151871400-151880400	Weak transcription	Skeletal Muscle Female	skeletal muscle
19	chr1:151872800-151880800	Weak transcription	Right Atrium	heart
20	chr1:151873000-151880800	Weak transcription	Brain Cingulate Gyrus	brain
21	chr1:151874800-151880400	Weak transcription	Brain Anterior Caudate	brain
22	chr1:151875000-151879600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:151875000-151879800	Weak transcription	Fetal Lung	lung
24	chr1:151875400-151879600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:151875400-151879600	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:151875800-151879600	Weak transcription	Fetal Muscle Leg	muscle
27	chr1:151876400-151879600	Weak transcription	H9 Cell Line	embryonic stem cell
28	chr1:151876600-151881400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
29	chr1:151877000-151880800	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr1:151877600-151879800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr1:151877600-151881000	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
32	chr1:151877800-151880200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
33	chr1:151878000-151879600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr1:151878000-151879800	Genic enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
35	chr1:151878000-151879800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr1:151878000-151880800	Genic enhancers	Primary T cells fromperipheralblood	blood
37	chr1:151878200-151879600	Weak transcription	Primary B cells from peripheral blood	blood
38	chr1:151878200-151879800	Weak transcription	HMEC	breast
39	chr1:151878200-151880200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
40	chr1:151878200-151880800	Weak transcription	NH-A	brain
41	chr1:151878200-151881000	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
42	chr1:151878200-151881200	Weak transcription	Fetal Heart	heart
43	chr1:151878400-151879600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
44	chr1:151878400-151879600	Weak transcription	A549	lung
45	chr1:151878400-151879800	Weak transcription	Adipose Nuclei	Adipose
46	chr1:151878400-151879800	Weak transcription	Duodenum Mucosa	Duodenum
47	chr1:151878400-151879800	Weak transcription	Hela-S3	cervix
48	chr1:151878400-151879800	Weak transcription	NHEK	skin
49	chr1:151878400-151880200	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:151878400-151880600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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