Variant report

Variant	rs59455784
Chromosome Location	chr1:154597341-154597342
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154591914..154597666-chr1:154597699..154601891,19	MCF-7	breast:
2	chr1:154579004..154583932-chr1:154594616..154602031,16	K562	blood:
3	chr1:154573864..154581870-chr1:154594652..154602962,18	K562	blood:
4	chr1:154574387..154584697-chr1:154596875..154603021,22	MCF-7	breast:
5	chr1:154575429..154582917-chr1:154596773..154602552,13	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160710	Chromatin interaction

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34167604	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55799808	0.86[AFR][1000 genomes]
rs57517342	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58837269	0.85[AFR][1000 genomes]
rs59415136	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74115806	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74115814	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74115817	0.98[AFR][1000 genomes]
rs74119104	0.90[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	nsv948413	chr1:153974621-154797272	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
2	nsv521887	chr1:154236570-154684106	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
3	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
4	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv470740	chr1:154568683-154796895	Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv464050	chr1:154568683-154801247	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
7	nsv547958	chr1:154568683-154801247	Enhancers Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154581200-154599000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:154581200-154599400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr1:154581400-154599400	Weak transcription	Esophagus	oesophagus
4	chr1:154582200-154598800	Weak transcription	Rectal Mucosa Donor 29	rectum
5	chr1:154582200-154599000	Weak transcription	Adipose Nuclei	Adipose
6	chr1:154582200-154599600	Weak transcription	Aorta	Aorta
7	chr1:154582400-154598800	Weak transcription	Fetal Muscle Leg	muscle
8	chr1:154582400-154599000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr1:154582400-154599000	Weak transcription	Rectal Smooth Muscle	rectum
10	chr1:154582400-154599400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr1:154582600-154597600	Weak transcription	NHDF-Ad	bronchial
12	chr1:154582600-154599000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr1:154582600-154599000	Weak transcription	A549	lung
14	chr1:154582800-154598800	Weak transcription	Thymus	Thymus
15	chr1:154584400-154598800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr1:154584600-154597600	Weak transcription	Brain Anterior Caudate	brain
17	chr1:154584600-154598800	Weak transcription	Cortex derived primary cultured neurospheres	brain
18	chr1:154584600-154598800	Weak transcription	Brain Cingulate Gyrus	brain
19	chr1:154584600-154598800	Weak transcription	Brain Substantia Nigra	brain
20	chr1:154587200-154599400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
21	chr1:154587800-154597400	Weak transcription	Brain Angular Gyrus	brain
22	chr1:154587800-154599200	Weak transcription	Placenta	Placenta
23	chr1:154588000-154598800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
24	chr1:154588600-154599000	Weak transcription	Fetal Kidney	kidney
25	chr1:154589000-154599000	Weak transcription	Brain Germinal Matrix	brain
26	chr1:154589200-154598800	Weak transcription	Fetal Intestine Large	intestine
27	chr1:154589400-154599000	Weak transcription	Right Atrium	heart
28	chr1:154589600-154597600	Weak transcription	Colon Smooth Muscle	Colon
29	chr1:154589600-154599400	Weak transcription	Psoas Muscle	Psoas
30	chr1:154589800-154598800	Weak transcription	Liver	Liver
31	chr1:154589800-154599000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr1:154590000-154597600	Weak transcription	Brain Hippocampus Middle	brain
33	chr1:154590000-154599000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
34	chr1:154590000-154599200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
35	chr1:154590200-154599000	Weak transcription	HUES48 Cell Line	embryonic stem cell
36	chr1:154590200-154599000	Weak transcription	HUES6 Cell Line	embryonic stem cell
37	chr1:154590200-154599000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:154590200-154599000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr1:154590200-154599000	Weak transcription	HUVEC	blood vessel
40	chr1:154590400-154599000	Weak transcription	Rectal Mucosa Donor 31	rectum
41	chr1:154591800-154599400	Weak transcription	Lung	lung
42	chr1:154592000-154599000	Weak transcription	Fetal Stomach	stomach
43	chr1:154592000-154599000	Weak transcription	Ovary	ovary
44	chr1:154592400-154597600	Weak transcription	Sigmoid Colon	Sigmoid Colon
45	chr1:154592400-154598800	Weak transcription	Duodenum Mucosa	Duodenum
46	chr1:154592400-154599000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr1:154594400-154597600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr1:154594400-154598200	Genic enhancers	Dnd41	blood
49	chr1:154594600-154597600	Weak transcription	Fetal Brain Male	brain
50	chr1:154594600-154597800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived

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