Variant report

Variant	rs28706741
Chromosome Location	chr4:148543610-148543611
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:148542240..148544563-chr4:148545277..148546786,2	K562	blood:
2	chr4:148536735..148540067-chr4:148540690..148544003,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000164168	Chromatin interaction
ENSG00000251298	Chromatin interaction

Extended variants
information (count: 28 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10010511	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10015122	1.00[AMR][1000 genomes]
rs10305935	1.00[AMR][1000 genomes]
rs10305938	1.00[AMR][1000 genomes]
rs17023637	1.00[AMR][1000 genomes]
rs17023724	1.00[AMR][1000 genomes]
rs17023733	1.00[AMR][1000 genomes]
rs17023744	1.00[AMR][1000 genomes]
rs17023757	1.00[AMR][1000 genomes]
rs17023761	1.00[AMR][1000 genomes]
rs17023763	1.00[AMR][1000 genomes]
rs17023771	1.00[AMR][1000 genomes]
rs28412528	1.00[AMR][1000 genomes]
rs28416759	1.00[AMR][1000 genomes]
rs28437023	1.00[AMR][1000 genomes]
rs28476507	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28536542	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28559891	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28582558	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs5339	1.00[AMR][1000 genomes]
rs5340	1.00[AMR][1000 genomes]
rs9991057	1.00[AMR][1000 genomes]
rs9992593	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1028958	chr4:148377752-148793485	Weak transcription Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv830110	chr4:148432125-148595119	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv428776	chr4:148432125-148595119	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
4	nsv498083	chr4:148519825-148917583	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	20 gene(s)	inside rSNPs	diseases
5	nsv1019205	chr4:148524852-148576265	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	4 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	chr4:148539400-148543800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
2	chr4:148539400-148547000	Weak transcription	Lung	lung
3	chr4:148539400-148547200	Weak transcription	Esophagus	oesophagus
4	chr4:148539400-148548200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
5	chr4:148539400-148576800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr4:148539600-148544000	Weak transcription	Fetal Stomach	stomach
7	chr4:148539600-148546800	Weak transcription	Colonic Mucosa	Colon
8	chr4:148539600-148547000	Weak transcription	Aorta	Aorta
9	chr4:148539600-148547800	Weak transcription	HSMMtube	muscle
10	chr4:148539600-148554200	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr4:148539800-148544600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr4:148539800-148545000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:148539800-148546600	Weak transcription	NHLF	lung
14	chr4:148539800-148547600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
15	chr4:148539800-148550000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:148539800-148557200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr4:148540000-148543800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
18	chr4:148540000-148543800	Weak transcription	Primary neutrophils fromperipheralblood	blood
19	chr4:148540000-148543800	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr4:148540200-148543800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr4:148540200-148547000	Weak transcription	Pancreas	Pancrea
22	chr4:148540600-148544000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
23	chr4:148540800-148561000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr4:148541000-148544000	Genic enhancers	Primary T helper cells fromperipheralblood	blood
25	chr4:148541000-148545000	Strong transcription	Fetal Muscle Leg	muscle
26	chr4:148541000-148549600	Strong transcription	Fetal Muscle Trunk	muscle
27	chr4:148541200-148543800	Weak transcription	H1 Cell Line	embryonic stem cell
28	chr4:148541200-148543800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr4:148541200-148544200	Weak transcription	Right Ventricle	heart
30	chr4:148541400-148543800	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
31	chr4:148541400-148543800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
32	chr4:148541400-148543800	Weak transcription	Rectal Mucosa Donor 31	rectum
33	chr4:148541400-148544000	Weak transcription	Left Ventricle	heart
34	chr4:148541400-148546000	Weak transcription	Brain Substantia Nigra	brain
35	chr4:148541400-148546400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr4:148541400-148554800	Weak transcription	A549	lung
37	chr4:148541400-148563400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:148541600-148543800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr4:148541600-148546400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr4:148541800-148543800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
41	chr4:148541800-148543800	Weak transcription	Fetal Kidney	kidney
42	chr4:148542000-148543800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
43	chr4:148542000-148544800	Weak transcription	Primary hematopoietic stem cells	blood
44	chr4:148542000-148545000	Weak transcription	HMEC	breast
45	chr4:148542200-148545000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr4:148542200-148545600	Weak transcription	Stomach Smooth Muscle	stomach
47	chr4:148542200-148546000	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:148542200-148547000	Weak transcription	Thymus	Thymus
49	chr4:148542200-148564200	Strong transcription	Fetal Thymus	thymus
50	chr4:148542400-148543800	Weak transcription	Primary B cells from cord blood	blood

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