Variant report

Variant	rs60301454
Chromosome Location	chr1:46137801-46137802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:46120873..46125915-chr1:46137072..46142026,5	K562	blood:
2	chr1:46135754..46137846-chr1:46149145..46151920,2	MCF-7	breast:
3	chr1:46130985..46133951-chr1:46136755..46138618,3	K562	blood:

Variant related genes	Relation type
ENSG00000159592	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs34965970	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35210931	1.00[AMR][1000 genomes]
rs56695029	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57402001	1.00[AMR][1000 genomes]
rs57813129	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59974520	1.00[AMR][1000 genomes]
rs60916630	0.83[AFR][1000 genomes]
rs60952228	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61169182	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	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
2	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
3	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
4	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
5	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
6	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:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:46106200-46140000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:46124800-46144600	Weak transcription	Aorta	Aorta
3	chr1:46125000-46148400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr1:46125200-46151000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:46125400-46140000	Weak transcription	NHEK	skin
6	chr1:46126000-46143000	Weak transcription	Fetal Lung	lung
7	chr1:46126000-46143800	Weak transcription	Fetal Brain Female	brain
8	chr1:46126000-46144200	Weak transcription	Brain Germinal Matrix	brain
9	chr1:46126000-46145000	Weak transcription	Cortex derived primary cultured neurospheres	brain
10	chr1:46126000-46147200	Weak transcription	Thymus	Thymus
11	chr1:46126000-46149000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr1:46126000-46151000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:46126200-46138400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
14	chr1:46126200-46138800	Weak transcription	Brain Hippocampus Middle	brain
15	chr1:46126200-46140000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
16	chr1:46126200-46140200	Weak transcription	H9 Cell Line	embryonic stem cell
17	chr1:46126200-46144800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:46126200-46148600	Weak transcription	Fetal Stomach	stomach
19	chr1:46126400-46139400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr1:46126400-46140000	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr1:46126400-46143000	Weak transcription	Primary T cells from cord blood	blood
22	chr1:46126400-46144200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
23	chr1:46126400-46144800	Weak transcription	Colonic Mucosa	Colon
24	chr1:46126400-46144800	Weak transcription	Fetal Muscle Leg	muscle
25	chr1:46126400-46146600	Weak transcription	Fetal Kidney	kidney
26	chr1:46126400-46151000	Weak transcription	Fetal Muscle Trunk	muscle
27	chr1:46126600-46143000	Weak transcription	Fetal Intestine Large	intestine
28	chr1:46126600-46144800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr1:46126600-46150600	Weak transcription	Placenta	Placenta
30	chr1:46126800-46140200	Weak transcription	Rectal Mucosa Donor 29	rectum
31	chr1:46126800-46145000	Weak transcription	HMEC	breast
32	chr1:46126800-46147200	Weak transcription	H1 Cell Line	embryonic stem cell
33	chr1:46127000-46138200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr1:46127000-46138800	Weak transcription	Primary B cells from peripheral blood	blood
35	chr1:46127000-46139400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr1:46127000-46139600	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr1:46127000-46139800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr1:46127000-46140200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr1:46127000-46142400	Weak transcription	Primary monocytes fromperipheralblood	blood
40	chr1:46127000-46143600	Weak transcription	HUES6 Cell Line	embryonic stem cell
41	chr1:46127000-46144800	Weak transcription	Primary hematopoietic stem cells	blood
42	chr1:46127200-46143400	Weak transcription	HUES64 Cell Line	embryonic stem cell
43	chr1:46127400-46140000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr1:46127600-46138200	Weak transcription	Hela-S3	cervix
45	chr1:46129200-46138200	Weak transcription	Fetal Thymus	thymus
46	chr1:46129200-46143000	Weak transcription	Primary B cells from cord blood	blood
47	chr1:46129400-46143400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr1:46132800-46142800	Weak transcription	Brain Anterior Caudate	brain
49	chr1:46133600-46139000	Weak transcription	Spleen	Spleen
50	chr1:46133600-46143000	Weak transcription	Brain Inferior Temporal Lobe	brain

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