Variant report

Variant	rs17017619
Chromosome Location	chr4:144266416-144266417
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144262782..144265192-chr4:144266129..144268644,2	MCF-7	breast:
2	chr4:144256119..144259388-chr4:144266158..144269819,4	MCF-7	breast:
3	chr4:144104098..144105841-chr4:144264877..144267593,2	K562	blood:
4	chr4:144265483..144268245-chr4:144270502..144272328,2	K562	blood:
5	chr4:144104098..144106648-chr4:144265192..144267593,2	K562	blood:

Variant related genes	Relation type
ENSG00000250326	Chromatin interaction
ENSG00000170185	Chromatin interaction
ENSG00000228981	Chromatin interaction
ENSG00000178972	Chromatin interaction
ENSG00000109458	Chromatin interaction
ENSG00000265623	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs17017603	1.00[AFR][1000 genomes]
rs17017607	1.00[AFR][1000 genomes]
rs17017677	1.00[AFR][1000 genomes]
rs17017732	1.00[AFR][1000 genomes]
rs17017740	1.00[AFR][1000 genomes]
rs28989209	1.00[AFR][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:91 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:144259200-144272400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr4:144259400-144268600	Weak transcription	Primary B cells from peripheral blood	blood
3	chr4:144259400-144272000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
4	chr4:144259400-144272600	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr4:144259600-144276200	Weak transcription	Fetal Kidney	kidney
6	chr4:144259800-144268600	Weak transcription	Primary hematopoietic stem cells	blood
7	chr4:144260000-144267400	Weak transcription	Stomach Mucosa	stomach
8	chr4:144260000-144268600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr4:144260000-144272800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:144260200-144268600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
11	chr4:144261000-144268600	Weak transcription	Primary B cells from cord blood	blood
12	chr4:144261600-144272600	Weak transcription	Adipose Nuclei	Adipose
13	chr4:144263000-144267400	Weak transcription	Fetal Muscle Trunk	muscle
14	chr4:144263000-144267400	Weak transcription	Pancreas	Pancrea
15	chr4:144263000-144268600	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr4:144263000-144276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
17	chr4:144263000-144277800	Weak transcription	Fetal Thymus	thymus
18	chr4:144263800-144266800	Enhancers	Placenta Amnion	Placenta Amnion
19	chr4:144264000-144267600	Enhancers	Fetal Lung	lung
20	chr4:144264000-144270200	Enhancers	Rectal Smooth Muscle	rectum
21	chr4:144264000-144276400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr4:144264200-144267000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr4:144264200-144267200	Enhancers	Rectal Mucosa Donor 29	rectum
24	chr4:144264200-144267200	Enhancers	HMEC	breast
25	chr4:144264200-144267600	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr4:144264200-144268000	Enhancers	HUES6 Cell Line	embryonic stem cell
27	chr4:144264200-144269600	Enhancers	Duodenum Smooth Muscle	Duodenum
28	chr4:144264600-144267800	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:144264600-144269800	Enhancers	Fetal Intestine Small	intestine
30	chr4:144264600-144270000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:144264800-144267600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr4:144264800-144268600	Weak transcription	Esophagus	oesophagus
33	chr4:144264800-144269400	Weak transcription	Colonic Mucosa	Colon
34	chr4:144265000-144270000	Enhancers	Colon Smooth Muscle	Colon
35	chr4:144265200-144266800	Enhancers	Fetal Intestine Large	intestine
36	chr4:144265200-144267000	Weak transcription	Small Intestine	intestine
37	chr4:144265400-144266800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:144265400-144266800	Weak transcription	Rectal Mucosa Donor 31	rectum
39	chr4:144265400-144268800	Enhancers	HepG2	liver
40	chr4:144265600-144266600	Weak transcription	Aorta	Aorta
41	chr4:144265600-144266800	Weak transcription	Placenta	Placenta
42	chr4:144265600-144267000	Enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr4:144265600-144267000	Weak transcription	Left Ventricle	heart
44	chr4:144265600-144267400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
45	chr4:144265600-144267400	Weak transcription	Gastric	stomach
46	chr4:144265600-144267400	Weak transcription	Ovary	ovary
47	chr4:144265600-144268000	Active TSS	Right Atrium	heart
48	chr4:144265600-144268600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr4:144265600-144268600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr4:144265600-144269200	Weak transcription	Fetal Muscle Leg	muscle

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