Variant report

Variant	rs28989205
Chromosome Location	chr4:144277331-144277332
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144262793..144271335-chr4:144272377..144280163,14	K562	blood:
2	chr4:144256714..144259978-chr4:144276972..144280167,4	MCF-7	breast:
3	chr4:144272912..144279199-chr4:144279482..144284125,11	K562	blood:
4	chr4:144255843..144260329-chr4:144275960..144279644,5	MCF-7	breast:
5	chr4:144275276..144278433-chr4:144281060..144283410,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000265623	Chromatin interaction
ENSG00000109458	Chromatin interaction
ENSG00000228981	Chromatin interaction
ENSG00000178972	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:34)

rs_ID	r²[population]
rs10519681	1.00[AMR][1000 genomes]
rs1866757	1.00[AMR][1000 genomes]
rs28925883	1.00[AMR][1000 genomes]
rs28989218	1.00[AMR][1000 genomes]
rs28989233	1.00[AMR][1000 genomes]
rs55683567	1.00[AMR][1000 genomes]
rs55789823	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55872942	1.00[AMR][1000 genomes]
rs56372904	1.00[AMR][1000 genomes]
rs57024421	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57336725	1.00[AMR][1000 genomes]
rs57368559	1.00[AMR][1000 genomes]
rs57674712	1.00[AMR][1000 genomes]
rs57743690	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60891033	1.00[AMR][1000 genomes]
rs61193096	1.00[AMR][1000 genomes]
rs61288732	1.00[AMR][1000 genomes]
rs61681472	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73850695	1.00[AMR][1000 genomes]
rs73850696	1.00[AMR][1000 genomes]
rs73850702	1.00[AMR][1000 genomes]
rs73853806	1.00[AMR][1000 genomes]
rs73853807	1.00[AMR][1000 genomes]
rs73853808	1.00[AMR][1000 genomes]
rs73853810	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853811	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73853812	1.00[AMR][1000 genomes]
rs73853814	1.00[AMR][1000 genomes]
rs73853816	1.00[AMR][1000 genomes]
rs73853818	1.00[AMR][1000 genomes]
rs73853824	1.00[AMR][1000 genomes]
rs73853832	1.00[AMR][1000 genomes]
rs73853834	1.00[AMR][1000 genomes]
rs7696614	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	nsv1033902	chr4:144114413-144285772	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv1026110	chr4:144239825-144292148	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:101 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144263000-144277800	Weak transcription	Fetal Thymus	thymus
2	chr4:144270000-144277600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:144272000-144279200	Enhancers	Brain Anterior Caudate	brain
4	chr4:144272000-144281400	Enhancers	Brain Substantia Nigra	brain
5	chr4:144272400-144279200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
6	chr4:144272800-144280200	Enhancers	Colon Smooth Muscle	Colon
7	chr4:144272800-144281200	Enhancers	Breast Myoepithelial Primary Cells	Breast
8	chr4:144272800-144284600	Enhancers	Fetal Intestine Small	intestine
9	chr4:144272800-144299800	Weak transcription	Fetal Muscle Trunk	muscle
10	chr4:144273600-144277600	Weak transcription	Fetal Brain Female	brain
11	chr4:144274600-144279400	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr4:144274800-144278800	Enhancers	iPS-18 Cell Line	embryonic stem cell
13	chr4:144275000-144279200	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
14	chr4:144275200-144279800	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr4:144275600-144278000	Enhancers	Adipose Nuclei	Adipose
16	chr4:144275800-144283000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr4:144276000-144277800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr4:144276000-144278000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
19	chr4:144276000-144278400	Enhancers	GM12878-XiMat	blood
20	chr4:144276000-144278800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:144276000-144278800	Enhancers	Brain Hippocampus Middle	brain
22	chr4:144276000-144278800	Enhancers	Fetal Stomach	stomach
23	chr4:144276000-144279000	Enhancers	iPS-15b Cell Line	embryonic stem cell
24	chr4:144276000-144279000	Enhancers	Skeletal Muscle Female	skeletal muscle
25	chr4:144276000-144279000	Enhancers	Small Intestine	intestine
26	chr4:144276200-144277400	Enhancers	HSMMtube	muscle
27	chr4:144276200-144278000	Enhancers	NHLF	lung
28	chr4:144276200-144278200	Enhancers	Brain Germinal Matrix	brain
29	chr4:144276200-144278200	Enhancers	Fetal Kidney	kidney
30	chr4:144276200-144278800	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
31	chr4:144276200-144279000	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr4:144276200-144280800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr4:144276200-144283000	Enhancers	HMEC	breast
34	chr4:144276400-144277600	Weak transcription	Fetal Brain Male	brain
35	chr4:144276400-144277800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
36	chr4:144276400-144277800	Enhancers	Right Ventricle	heart
37	chr4:144276400-144277800	Enhancers	Osteobl	bone
38	chr4:144276400-144278000	Enhancers	H1 Cell Line	embryonic stem cell
39	chr4:144276400-144278000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
40	chr4:144276400-144278000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr4:144276400-144278000	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr4:144276400-144278000	Enhancers	Left Ventricle	heart
43	chr4:144276400-144278000	Enhancers	Placenta Amnion	Placenta Amnion
44	chr4:144276400-144278200	Flanking Active TSS	Fetal Heart	heart
45	chr4:144276400-144278400	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
46	chr4:144276400-144278600	Enhancers	Brain Cingulate Gyrus	brain
47	chr4:144276400-144278600	Enhancers	Duodenum Mucosa	Duodenum
48	chr4:144276400-144278600	Enhancers	Skeletal Muscle Male	skeletal muscle
49	chr4:144276400-144278800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
50	chr4:144276400-144278800	Enhancers	Brain Angular Gyrus	brain

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