Variant report

Variant	rs74124646
Chromosome Location	chr1:161098843-161098844
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:161095865..161099182-chr1:161125702..161130485,4	K562	blood:
2	chr1:161096487..161100046-chr1:161125256..161128979,4	K562	blood:

Variant related genes	Relation type
ENSG00000143258	Chromatin interaction
ENSG00000224985	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs55675252	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56758346	0.91[AFR][1000 genomes]
rs57560345	0.83[AFR][1000 genomes]
rs61642842	0.83[AFR][1000 genomes]
rs74124633	1.00[AMR][1000 genomes]
rs74124643	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124647	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74124650	0.83[AFR][1000 genomes]
rs74124653	0.83[AFR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv530077	chr1:160836448-161284904	Enhancers Weak transcription Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	119 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:161088800-161101400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr1:161089400-161099600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr1:161089600-161099000	Strong transcription	Thymus	Thymus
4	chr1:161089600-161099200	Strong transcription	H1 Cell Line	embryonic stem cell
5	chr1:161089600-161099600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr1:161089600-161099600	Strong transcription	Fetal Lung	lung
7	chr1:161089600-161100200	Strong transcription	HUES64 Cell Line	embryonic stem cell
8	chr1:161089600-161100400	Strong transcription	HUES48 Cell Line	embryonic stem cell
9	chr1:161089600-161100400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
10	chr1:161089800-161099000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
11	chr1:161089800-161099000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr1:161089800-161099600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr1:161089800-161099600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr1:161089800-161099600	Strong transcription	Cortex derived primary cultured neurospheres	brain
15	chr1:161089800-161099600	Strong transcription	Fetal Stomach	stomach
16	chr1:161089800-161099800	Strong transcription	Brain Inferior Temporal Lobe	brain
17	chr1:161089800-161100200	Strong transcription	HUES6 Cell Line	embryonic stem cell
18	chr1:161089800-161100400	Strong transcription	Sigmoid Colon	Sigmoid Colon
19	chr1:161090000-161099000	Strong transcription	A549	lung
20	chr1:161090000-161099200	Strong transcription	Rectal Mucosa Donor 31	rectum
21	chr1:161090000-161099400	Strong transcription	Brain Angular Gyrus	brain
22	chr1:161090000-161099600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr1:161090000-161099800	Strong transcription	Osteobl	bone
24	chr1:161090000-161100000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
25	chr1:161090000-161100200	Strong transcription	Fetal Brain Female	brain
26	chr1:161090200-161099000	Strong transcription	HUVEC	blood vessel
27	chr1:161090200-161099200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr1:161090200-161099400	Strong transcription	Brain Cingulate Gyrus	brain
29	chr1:161090200-161099600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
30	chr1:161090200-161099800	Strong transcription	NHLF	lung
31	chr1:161090200-161100400	Strong transcription	Left Ventricle	heart
32	chr1:161090200-161100600	Strong transcription	Rectal Mucosa Donor 29	rectum
33	chr1:161090400-161099000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr1:161090400-161099000	Strong transcription	HMEC	breast
35	chr1:161090400-161099200	Strong transcription	Stomach Smooth Muscle	stomach
36	chr1:161090400-161099400	Strong transcription	Brain Hippocampus Middle	brain
37	chr1:161090400-161099600	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
38	chr1:161090400-161099600	Strong transcription	Duodenum Smooth Muscle	Duodenum
39	chr1:161090400-161100000	Strong transcription	Fetal Muscle Trunk	muscle
40	chr1:161090400-161100400	Strong transcription	HSMM	muscle
41	chr1:161090400-161101200	Weak transcription	Right Atrium	heart
42	chr1:161091200-161099600	Strong transcription	Brain Anterior Caudate	brain
43	chr1:161091200-161100200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
44	chr1:161091600-161100400	Strong transcription	Fetal Intestine Large	intestine
45	chr1:161092400-161100000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr1:161092400-161100600	Strong transcription	Primary B cells from peripheral blood	blood
47	chr1:161093000-161099200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr1:161093800-161100800	Weak transcription	Pancreatic Islets	Pancreatic Islet
49	chr1:161094400-161099000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr1:161094400-161100400	Weak transcription	iPS-15b Cell Line	embryonic stem cell

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