Variant report

Variant	rs72924842
Chromosome Location	chr3:69137834-69137835
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:69134062..69135761-chr3:69137547..69139111,3	MCF-7	breast:
2	chr3:69133183..69135631-chr3:69135835..69138736,3	K562	blood:

Variant related genes	Relation type
ENSG00000144746	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12054081	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924865	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924866	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924867	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924873	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924874	1.00[AMR][1000 genomes]
rs72924875	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924876	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72924880	0.82[AFR][1000 genomes];1.00[AMR][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	nsv876933	chr3:69059023-69227379	Enhancers Strong transcription Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
2	nsv876934	chr3:69111512-69166895	Enhancers Genic enhancers Strong transcription Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:69135200-69155200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr3:69135600-69139800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
3	chr3:69135600-69140600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:69135800-69138000	Enhancers	Liver	Liver
5	chr3:69135800-69138200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr3:69135800-69138200	Enhancers	Stomach Mucosa	stomach
7	chr3:69135800-69138600	Weak transcription	H1 Cell Line	embryonic stem cell
8	chr3:69135800-69138600	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr3:69135800-69138800	Enhancers	Lung	lung
10	chr3:69135800-69139800	Enhancers	ES-I3 Cell Line	embryonic stem cell
11	chr3:69135800-69139800	Weak transcription	K562	blood
12	chr3:69135800-69140800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:69135800-69141200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
14	chr3:69135800-69141200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:69135800-69141200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
16	chr3:69135800-69141200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr3:69135800-69141400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:69135800-69155800	Weak transcription	Fetal Kidney	kidney
19	chr3:69136000-69138000	Enhancers	Primary monocytes fromperipheralblood	blood
20	chr3:69136000-69138800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
21	chr3:69136000-69139200	Enhancers	Small Intestine	intestine
22	chr3:69136000-69142400	Enhancers	Cortex derived primary cultured neurospheres	brain
23	chr3:69136000-69143800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr3:69136200-69138200	Flanking Active TSS	Primary T helper cells PMA-I stimulated	--
25	chr3:69136200-69138200	Flanking Active TSS	Brain Substantia Nigra	brain
26	chr3:69136200-69141400	Enhancers	Primary neutrophils fromperipheralblood	blood
27	chr3:69136400-69138200	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr3:69136400-69138200	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
29	chr3:69136400-69138800	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr3:69136400-69139000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:69136400-69139000	Weak transcription	Esophagus	oesophagus
32	chr3:69136400-69140400	Enhancers	Foreskin Melanocyte Primary Cells skin01	Skin
33	chr3:69136400-69140800	Weak transcription	Fetal Brain Female	brain
34	chr3:69136400-69141000	Genic enhancers	Primary Natural Killer cells fromperipheralblood	blood
35	chr3:69136600-69138400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:69136600-69138400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
37	chr3:69136600-69138600	Enhancers	Fetal Intestine Large	intestine
38	chr3:69136600-69138800	Flanking Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:69136600-69139600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
40	chr3:69136600-69139600	Enhancers	Pancreatic Islets	Pancreatic Islet
41	chr3:69136600-69139800	Weak transcription	Fetal Stomach	stomach
42	chr3:69136600-69147000	Enhancers	Colon Smooth Muscle	Colon
43	chr3:69136800-69138000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
44	chr3:69136800-69139000	Enhancers	Sigmoid Colon	Sigmoid Colon
45	chr3:69136800-69139800	Enhancers	Psoas Muscle	Psoas
46	chr3:69136800-69140000	Enhancers	Hela-S3	cervix
47	chr3:69136800-69143200	Enhancers	Rectal Smooth Muscle	rectum
48	chr3:69136800-69156400	Weak transcription	Fetal Brain Male	brain
49	chr3:69137000-69138000	Flanking Active TSS	Duodenum Mucosa	Duodenum
50	chr3:69137200-69138000	Enhancers	HUES6 Cell Line	embryonic stem cell

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