Variant report

Variant	rs58642118
Chromosome Location	chr1:94084732-94084733
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	chr1:93912540..93915711-chr1:94082929..94085848,3	MCF-7	breast:
2	chr1:94084156..94086845-chr1:94089262..94091205,3	K562	blood:

Variant related genes	Relation type
ENSG00000137942	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs17110023	1.00[EUR][1000 genomes]
rs55668649	1.00[EUR][1000 genomes]
rs55774036	1.00[EUR][1000 genomes]
rs55777828	1.00[EUR][1000 genomes]
rs55925711	1.00[EUR][1000 genomes]
rs56405388	1.00[EUR][1000 genomes]
rs58343196	1.00[EUR][1000 genomes]
rs74101610	1.00[EUR][1000 genomes]
rs74101615	1.00[EUR][1000 genomes]
rs74101618	1.00[EUR][1000 genomes]
rs7545472	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv482370	chr1:94000799-94183692	Enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv2755338	chr1:94059579-94176079	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:88 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:94057600-94106400	Weak transcription	Primary B cells from cord blood	blood
2	chr1:94077200-94099000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
3	chr1:94079400-94084800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr1:94079400-94086800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr1:94079400-94088600	Enhancers	Fetal Intestine Large	intestine
6	chr1:94079600-94088000	Enhancers	Rectal Mucosa Donor 31	rectum
7	chr1:94079600-94089400	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
8	chr1:94079800-94090000	Enhancers	Stomach Mucosa	stomach
9	chr1:94080000-94088000	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr1:94080000-94089200	Genic enhancers	NHEK	skin
11	chr1:94080600-94084800	Enhancers	Primary B cells from peripheral blood	blood
12	chr1:94081200-94095000	Genic enhancers	HSMM	muscle
13	chr1:94082200-94086600	Weak transcription	K562	blood
14	chr1:94082400-94085800	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr1:94082400-94088000	Enhancers	Fetal Intestine Small	intestine
16	chr1:94082600-94086000	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr1:94083000-94086600	Enhancers	Colonic Mucosa	Colon
18	chr1:94083400-94085200	Enhancers	Breast Myoepithelial Primary Cells	Breast
19	chr1:94083400-94088000	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr1:94083400-94091200	Weak transcription	Aorta	Aorta
21	chr1:94083400-94093800	Weak transcription	Psoas Muscle	Psoas
22	chr1:94083400-94108200	Weak transcription	Esophagus	oesophagus
23	chr1:94083600-94101600	Weak transcription	Stomach Smooth Muscle	stomach
24	chr1:94083800-94085000	Weak transcription	Osteobl	bone
25	chr1:94083800-94085200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr1:94083800-94085200	Weak transcription	NHLF	lung
27	chr1:94083800-94085400	Weak transcription	Lung	lung
28	chr1:94083800-94088000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr1:94083800-94088200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr1:94083800-94091200	Weak transcription	Ovary	ovary
31	chr1:94083800-94091400	Weak transcription	Fetal Stomach	stomach
32	chr1:94083800-94095000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
33	chr1:94084000-94085000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr1:94084000-94085000	Weak transcription	Sigmoid Colon	Sigmoid Colon
35	chr1:94084000-94085000	Weak transcription	Small Intestine	intestine
36	chr1:94084000-94085000	Weak transcription	NHDF-Ad	bronchial
37	chr1:94084000-94085200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr1:94084000-94085200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr1:94084000-94085200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr1:94084000-94085200	Weak transcription	Fetal Muscle Trunk	muscle
41	chr1:94084000-94085200	Weak transcription	Gastric	stomach
42	chr1:94084000-94085200	Weak transcription	Left Ventricle	heart
43	chr1:94084000-94085200	Weak transcription	Right Atrium	heart
44	chr1:94084000-94085400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr1:94084000-94085400	Weak transcription	HSMMtube	muscle
46	chr1:94084000-94086000	Weak transcription	Right Ventricle	heart
47	chr1:94084000-94086600	Enhancers	Duodenum Mucosa	Duodenum
48	chr1:94084000-94087200	Enhancers	Adipose Nuclei	Adipose
49	chr1:94084000-94088000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr1:94084000-94088000	Weak transcription	Brain Substantia Nigra	brain

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