Variant report

Variant	rs17017648
Chromosome Location	chr4:144275627-144275628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:144272183..144275049-chr4:144275578..144277182,2	MCF-7	breast:
2	chr4:144255276..144259485-chr4:144272162..144275884,5	MCF-7	breast:
3	chr4:144274310..144276106-chr4:144283049..144285599,2	MCF-7	breast:
4	chr4:144255601..144258477-chr4:144273085..144276456,3	MCF-7	breast:
5	chr4:144262793..144271335-chr4:144272377..144280163,14	K562	blood:
6	chr4:144272912..144279199-chr4:144279482..144284125,11	K562	blood:
7	chr4:144275276..144278433-chr4:144281060..144283410,4	MCF-7	breast:

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

Extended variants
information (count: 5 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs11940820	1.00[AMR][1000 genomes]
rs11944354	1.00[AMR][1000 genomes]
rs11944459	0.87[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	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	chr4:144259600-144276200	Weak transcription	Fetal Kidney	kidney
2	chr4:144263000-144276600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr4:144263000-144277800	Weak transcription	Fetal Thymus	thymus
4	chr4:144264000-144276400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr4:144265600-144276400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr4:144265800-144276400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr4:144269800-144276400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr4:144270000-144277600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:144272000-144279200	Enhancers	Brain Anterior Caudate	brain
10	chr4:144272000-144281400	Enhancers	Brain Substantia Nigra	brain
11	chr4:144272400-144276600	Enhancers	Duodenum Smooth Muscle	Duodenum
12	chr4:144272400-144279200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
13	chr4:144272800-144276400	Weak transcription	Lung	lung
14	chr4:144272800-144280200	Enhancers	Colon Smooth Muscle	Colon
15	chr4:144272800-144281200	Enhancers	Breast Myoepithelial Primary Cells	Breast
16	chr4:144272800-144284600	Enhancers	Fetal Intestine Small	intestine
17	chr4:144272800-144299800	Weak transcription	Fetal Muscle Trunk	muscle
18	chr4:144273000-144276400	Weak transcription	Esophagus	oesophagus
19	chr4:144273000-144276400	Weak transcription	Left Ventricle	heart
20	chr4:144273200-144276600	Enhancers	Rectal Smooth Muscle	rectum
21	chr4:144273400-144276600	Weak transcription	HSMM	muscle
22	chr4:144273600-144276200	Weak transcription	HSMMtube	muscle
23	chr4:144273600-144276400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr4:144273600-144276400	Weak transcription	Gastric	stomach
25	chr4:144273600-144276400	Weak transcription	Pancreas	Pancrea
26	chr4:144273600-144276600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
27	chr4:144273600-144276600	Weak transcription	Fetal Muscle Leg	muscle
28	chr4:144273600-144277600	Weak transcription	Fetal Brain Female	brain
29	chr4:144273800-144276000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr4:144273800-144276000	Weak transcription	GM12878-XiMat	blood
31	chr4:144273800-144276200	Weak transcription	NHLF	lung
32	chr4:144273800-144276400	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr4:144273800-144276400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
34	chr4:144273800-144276400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr4:144273800-144276400	Weak transcription	Placenta	Placenta
36	chr4:144273800-144276400	Weak transcription	Psoas Muscle	Psoas
37	chr4:144273800-144276600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr4:144273800-144276600	Weak transcription	Hela-S3	cervix
39	chr4:144273800-144276600	Weak transcription	NH-A	brain
40	chr4:144273800-144276800	Weak transcription	Muscle Satellite Cultured Cells	--
41	chr4:144274000-144276000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr4:144274000-144276200	Weak transcription	HUES6 Cell Line	embryonic stem cell
43	chr4:144274000-144276400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:144274000-144276400	Weak transcription	Ovary	ovary
45	chr4:144274000-144276400	Weak transcription	Stomach Mucosa	stomach
46	chr4:144274000-144276400	Weak transcription	Osteobl	bone
47	chr4:144274200-144276000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr4:144274200-144276000	Weak transcription	Aorta	Aorta
49	chr4:144274200-144276000	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr4:144274200-144276200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived

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