Variant report

Variant	rs4648091
Chromosome Location	chr4:103527169-103527170
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:103517631..103521191-chr4:103525485..103528516,3	K562	blood:
2	chr4:103420960..103423960-chr4:103524765..103528750,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000260651	Chromatin interaction
ENSG00000109320	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs4648002	1.00[YRI][hapmap]
rs4648015	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4648016	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4648043	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4648116	1.00[CEU][hapmap];1.00[YRI][hapmap]
rs4648134	1.00[CEU][hapmap];0.89[YRI][hapmap]
rs7679591	1.00[CEU][hapmap];1.00[YRI][hapmap]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv830020	chr4:103387343-103581284	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:103483400-103541600	Weak transcription	K562	blood
2	chr4:103497600-103533400	Strong transcription	Primary B cells from peripheral blood	blood
3	chr4:103500200-103527600	Weak transcription	Pancreas	Pancrea
4	chr4:103500400-103528200	Weak transcription	Right Ventricle	heart
5	chr4:103502600-103532800	Weak transcription	Brain Germinal Matrix	brain
6	chr4:103512600-103527600	Weak transcription	Ovary	ovary
7	chr4:103512800-103531800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
8	chr4:103513000-103542000	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr4:103513200-103536200	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr4:103514600-103535800	Strong transcription	Adipose Nuclei	Adipose
11	chr4:103514600-103538200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr4:103514600-103539000	Strong transcription	Primary neutrophils fromperipheralblood	blood
13	chr4:103515000-103539000	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr4:103515200-103533200	Strong transcription	Primary B cells from cord blood	blood
15	chr4:103515200-103533400	Strong transcription	Primary hematopoietic stem cells	blood
16	chr4:103515200-103533600	Strong transcription	Duodenum Mucosa	Duodenum
17	chr4:103515200-103538800	Strong transcription	Primary monocytes fromperipheralblood	blood
18	chr4:103515400-103533200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr4:103515400-103533400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr4:103515400-103533400	Strong transcription	Rectal Mucosa Donor 29	rectum
21	chr4:103515400-103533600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr4:103515400-103538800	Strong transcription	Duodenum Smooth Muscle	Duodenum
23	chr4:103515400-103538800	Strong transcription	Skeletal Muscle Female	skeletal muscle
24	chr4:103515600-103533400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
25	chr4:103515600-103535600	Strong transcription	Fetal Muscle Trunk	muscle
26	chr4:103515800-103535800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:103515800-103538200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr4:103515800-103538800	Strong transcription	Rectal Mucosa Donor 31	rectum
29	chr4:103515800-103538800	Strong transcription	Rectal Smooth Muscle	rectum
30	chr4:103517600-103541600	Weak transcription	Right Atrium	heart
31	chr4:103517800-103536200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr4:103518000-103528600	Weak transcription	Hela-S3	cervix
33	chr4:103518400-103533200	Weak transcription	HUES6 Cell Line	embryonic stem cell
34	chr4:103519000-103527600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr4:103519200-103528200	Weak transcription	NHLF	lung
36	chr4:103519400-103527600	Weak transcription	Cortex derived primary cultured neurospheres	brain
37	chr4:103519600-103528200	Weak transcription	Stomach Mucosa	stomach
38	chr4:103520200-103527600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
39	chr4:103520200-103528000	Weak transcription	Thymus	Thymus
40	chr4:103520200-103528200	Weak transcription	NH-A	brain
41	chr4:103520200-103530400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
42	chr4:103520200-103535600	Strong transcription	Left Ventricle	heart
43	chr4:103520400-103527400	Weak transcription	Colonic Mucosa	Colon
44	chr4:103520600-103531800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr4:103520800-103527600	Weak transcription	Fetal Heart	heart
46	chr4:103520800-103527800	Weak transcription	Muscle Satellite Cultured Cells	--
47	chr4:103520800-103529400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr4:103520800-103538600	Strong transcription	GM12878-XiMat	blood
49	chr4:103521000-103529000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr4:103521000-103529400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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