Variant report

Variant	rs62337515
Chromosome Location	chr4:144282412-144282413
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144280022..144283375-chr4:144285064..144288406,3	K562	blood:
2	chr4:144272912..144279199-chr4:144279482..144284125,11	K562	blood:
3	chr4:144264438..144268402-chr4:144278355..144282865,4	K562	blood:
4	chr4:144275276..144278433-chr4:144281060..144283410,4	MCF-7	breast:
5	chr4:144256496..144258835-chr4:144281268..144283636,2	MCF-7	breast:
6	chr4:144279896..144282516-chr4:144316177..144318703,2	K562	blood:
7	chr4:144257782..144259357-chr4:144281420..144283250,2	MCF-7	breast:

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

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10155329	0.85[AMR][1000 genomes]
rs10598	0.85[AMR][1000 genomes]
rs2323011	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28989215	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28989221	1.00[EUR][1000 genomes]
rs28989224	1.00[EUR][1000 genomes]
rs28989225	1.00[EUR][1000 genomes]
rs28989230	1.00[EUR][1000 genomes]
rs62337486	0.89[EUR][1000 genomes]
rs62337489	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337511	0.87[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337512	0.87[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs62337513	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62337514	0.89[EUR][1000 genomes]
rs62337516	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62337517	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62337518	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62337519	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62337524	1.00[EUR][1000 genomes]
rs62337525	1.00[EUR][1000 genomes]
rs62337526	1.00[EUR][1000 genomes]
rs62337527	1.00[EUR][1000 genomes]
rs62337528	1.00[EUR][1000 genomes]
rs62337529	1.00[EUR][1000 genomes]
rs62337530	1.00[EUR][1000 genomes]
rs62337531	1.00[EUR][1000 genomes]
rs62337532	1.00[EUR][1000 genomes]
rs6828635	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs745164	1.00[AMR][1000 genomes];0.89[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	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:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144272800-144284600	Enhancers	Fetal Intestine Small	intestine
2	chr4:144272800-144299800	Weak transcription	Fetal Muscle Trunk	muscle
3	chr4:144275800-144283000	Enhancers	HUES64 Cell Line	embryonic stem cell
4	chr4:144276200-144283000	Enhancers	HMEC	breast
5	chr4:144276400-144286000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr4:144276800-144284800	Weak transcription	Lung	lung
7	chr4:144277000-144282600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
8	chr4:144277000-144282800	Enhancers	Fetal Lung	lung
9	chr4:144277200-144284000	Enhancers	Fetal Intestine Large	intestine
10	chr4:144277200-144290400	Weak transcription	Pancreas	Pancrea
11	chr4:144277400-144296800	Weak transcription	HSMMtube	muscle
12	chr4:144278200-144285400	Enhancers	Fetal Heart	heart
13	chr4:144279000-144283600	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr4:144279600-144282600	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
15	chr4:144279600-144283000	Enhancers	NHDF-Ad	bronchial
16	chr4:144279600-144284200	Enhancers	Brain Anterior Caudate	brain
17	chr4:144279800-144283400	Enhancers	Cortex derived primary cultured neurospheres	brain
18	chr4:144279800-144286000	Enhancers	Brain Cingulate Gyrus	brain
19	chr4:144280000-144282800	Enhancers	Muscle Satellite Cultured Cells	--
20	chr4:144280000-144283000	Enhancers	Adipose Nuclei	Adipose
21	chr4:144280000-144283200	Enhancers	Placenta Amnion	Placenta Amnion
22	chr4:144280000-144283400	Enhancers	Skeletal Muscle Male	skeletal muscle
23	chr4:144280200-144285400	Enhancers	Skeletal Muscle Female	skeletal muscle
24	chr4:144280400-144282800	Weak transcription	Brain Germinal Matrix	brain
25	chr4:144280400-144284400	Enhancers	Colon Smooth Muscle	Colon
26	chr4:144280400-144285600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr4:144280600-144283000	Enhancers	Osteobl	bone
28	chr4:144280800-144283000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr4:144280800-144283000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr4:144280800-144283800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
31	chr4:144280800-144286000	Enhancers	Brain Hippocampus Middle	brain
32	chr4:144281000-144282600	Weak transcription	Esophagus	oesophagus
33	chr4:144281000-144282800	Weak transcription	Right Ventricle	heart
34	chr4:144281000-144283000	Enhancers	Primary hematopoietic stem cells	blood
35	chr4:144281000-144283000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr4:144281000-144283000	Enhancers	NHLF	lung
37	chr4:144281000-144283800	Weak transcription	Right Atrium	heart
38	chr4:144281200-144282600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr4:144281200-144282600	Weak transcription	Brain Inferior Temporal Lobe	brain
40	chr4:144281200-144282600	Weak transcription	Fetal Thymus	thymus
41	chr4:144281200-144282600	Weak transcription	Gastric	stomach
42	chr4:144281200-144282600	Weak transcription	Left Ventricle	heart
43	chr4:144281200-144282600	Weak transcription	Psoas Muscle	Psoas
44	chr4:144281200-144282600	Weak transcription	Small Intestine	intestine
45	chr4:144281200-144282600	Enhancers	NHEK	skin
46	chr4:144281200-144282800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr4:144281200-144282800	Weak transcription	Thymus	Thymus
48	chr4:144281200-144283000	Enhancers	Primary B cells from cord blood	blood
49	chr4:144281200-144283400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr4:144281200-144283800	Weak transcription	Spleen	Spleen

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