Variant report

Variant	rs59315920
Chromosome Location	chr1:46102770-46102771
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46102316..46104741-chr1:46152028..46154102,3	MCF-7	breast:
2	chr1:46101052..46102818-chr1:46152113..46153936,2	K562	blood:
3	chr1:46099211..46101022-chr1:46101953..46105980,6	K562	blood:
4	chr1:46081484..46083155-chr1:46101791..46104079,2	K562	blood:
5	chr1:46092930..46095558-chr1:46100346..46102809,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000132780	Chromatin interaction
ENSG00000159596	Chromatin interaction
ENSG00000159592	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs10157278	1.00[AFR][1000 genomes]
rs12239318	0.91[AFR][1000 genomes]
rs12239818	0.91[AFR][1000 genomes]
rs13375539	0.82[AFR][1000 genomes]
rs59573476	0.82[AFR][1000 genomes]
rs59867512	1.00[AFR][1000 genomes]
rs59879604	1.00[AFR][1000 genomes]
rs60497619	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv829726	chr1:45897581-46103186	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	148 gene(s)	inside rSNPs	diseases
2	nsv529631	chr1:45905936-46335246	Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Weak transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	207 gene(s)	inside rSNPs	diseases
3	nsv932680	chr1:45935520-46686477	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
4	nsv868828	chr1:45953923-46686477	Active TSS Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	232 gene(s)	inside rSNPs	diseases
5	nsv871928	chr1:46024701-46609736	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
6	nsv1011587	chr1:46051672-46244492	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	79 gene(s)	inside rSNPs	diseases
7	nsv1014128	chr1:46097670-46394540	Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	77 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	chr1:46053200-46127400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr1:46070000-46108200	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr1:46071600-46105800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
4	chr1:46074800-46108200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
5	chr1:46077800-46112600	Strong transcription	Monocytes-CD14+_RO01746	blood
6	chr1:46079800-46109800	Strong transcription	Primary neutrophils fromperipheralblood	blood
7	chr1:46087600-46129200	Strong transcription	Fetal Thymus	thymus
8	chr1:46088200-46110000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr1:46088600-46127400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr1:46088800-46113400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr1:46089000-46108800	Strong transcription	Osteobl	bone
12	chr1:46089000-46109400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr1:46089000-46109400	Strong transcription	Liver	Liver
14	chr1:46089000-46109600	Strong transcription	Primary B cells from peripheral blood	blood
15	chr1:46089200-46108800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr1:46089200-46109800	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr1:46089200-46110000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr1:46089600-46126400	Strong transcription	Primary T cells from cord blood	blood
19	chr1:46089800-46127000	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr1:46090200-46109800	Strong transcription	Fetal Muscle Leg	muscle
21	chr1:46091000-46108200	Strong transcription	Duodenum Mucosa	Duodenum
22	chr1:46091000-46126400	Strong transcription	Fetal Muscle Trunk	muscle
23	chr1:46091200-46107600	Strong transcription	Fetal Intestine Large	intestine
24	chr1:46091200-46108400	Strong transcription	Placenta	Placenta
25	chr1:46091200-46108600	Strong transcription	Muscle Satellite Cultured Cells	--
26	chr1:46091200-46108800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:46091200-46109000	Strong transcription	Rectal Smooth Muscle	rectum
28	chr1:46091200-46109800	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr1:46091200-46120400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
30	chr1:46091200-46120800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:46091200-46127000	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr1:46091200-46127000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr1:46091200-46127200	Strong transcription	HUES64 Cell Line	embryonic stem cell
34	chr1:46091200-46128200	Strong transcription	Dnd41	blood
35	chr1:46091400-46103400	Strong transcription	Skeletal Muscle Female	skeletal muscle
36	chr1:46091400-46105800	Strong transcription	HSMMtube	muscle
37	chr1:46091400-46107000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
38	chr1:46091400-46108800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr1:46091400-46108800	Strong transcription	Duodenum Smooth Muscle	Duodenum
40	chr1:46091400-46109200	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr1:46091400-46109400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:46091400-46109800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr1:46091400-46127000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
44	chr1:46091400-46127000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
45	chr1:46091400-46127000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:46091600-46103200	Strong transcription	Left Ventricle	heart
47	chr1:46091600-46107200	Strong transcription	Skeletal Muscle Male	skeletal muscle
48	chr1:46091600-46107400	Strong transcription	Colonic Mucosa	Colon
49	chr1:46091600-46108200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:46092400-46106600	Strong transcription	NHDF-Ad	bronchial

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