Variant report

Variant	rs4928152
Chromosome Location	chr3:99805727-99805728
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	chr3:99789802..99792121-chr3:99804695..99807400,2	K562	blood:
2	chr3:99802054..99805861-chr3:99806768..99808957,3	K562	blood:

Extended variants
information (count: 16 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs12493124	1.00[AFR][1000 genomes]
rs12493320	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55874130	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs55881709	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56140081	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes]
rs62281674	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv817478	chr3:99474086-99955548	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS ZNF genes & repeats Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
2	nsv916476	chr3:99478229-100124625	Active TSS Weak transcription Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
3	nsv869848	chr3:99652246-99904276	Weak transcription Enhancers ZNF genes & repeats Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
4	nsv932634	chr3:99660690-99888854	Enhancers Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	5 gene(s)	inside rSNPs	diseases
5	nsv1010579	chr3:99660754-99901817	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
6	nsv1008483	chr3:99660754-99903769	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
7	nsv1010897	chr3:99660754-99904783	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
8	nsv1001529	chr3:99661758-99892654	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Strong transcription Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
9	nsv536665	chr3:99661758-99892654	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	6 gene(s)	inside rSNPs	diseases
10	nsv591148	chr3:99774720-99905803	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:53 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:99793800-99809800	Weak transcription	Fetal Muscle Trunk	muscle
2	chr3:99795800-99866600	Weak transcription	Primary T cells from cord blood	blood
3	chr3:99796200-99807400	Weak transcription	Pancreatic Islets	Pancreatic Islet
4	chr3:99796600-99808800	Weak transcription	Duodenum Smooth Muscle	Duodenum
5	chr3:99796800-99808600	Weak transcription	Ovary	ovary
6	chr3:99796800-99808800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr3:99796800-99808800	Weak transcription	Left Ventricle	heart
8	chr3:99798000-99808800	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr3:99800000-99808800	Weak transcription	Aorta	Aorta
10	chr3:99801800-99805800	Weak transcription	HSMM	muscle
11	chr3:99803200-99808800	Weak transcription	Fetal Intestine Small	intestine
12	chr3:99803400-99806400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:99803800-99806000	Enhancers	Skeletal Muscle Male	skeletal muscle
14	chr3:99804000-99805800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr3:99804000-99806600	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
16	chr3:99804000-99808800	Weak transcription	Monocytes-CD14+_RO01746	blood
17	chr3:99804000-99809000	Weak transcription	Primary monocytes fromperipheralblood	blood
18	chr3:99804200-99805800	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:99804200-99806000	Enhancers	Colon Smooth Muscle	Colon
20	chr3:99804200-99806200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr3:99804200-99806200	Enhancers	Skeletal Muscle Female	skeletal muscle
22	chr3:99804200-99807800	Weak transcription	Primary neutrophils fromperipheralblood	blood
23	chr3:99804200-99808600	Weak transcription	Primary hematopoietic stem cells	blood
24	chr3:99804400-99807400	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr3:99804600-99806000	Enhancers	A549	lung
26	chr3:99804600-99807800	Weak transcription	K562	blood
27	chr3:99804600-99808800	Weak transcription	Fetal Muscle Leg	muscle
28	chr3:99804800-99806000	Enhancers	HUES48 Cell Line	embryonic stem cell
29	chr3:99804800-99806200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr3:99804800-99807800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr3:99804800-99808600	Weak transcription	Fetal Kidney	kidney
32	chr3:99804800-99808600	Weak transcription	Psoas Muscle	Psoas
33	chr3:99805000-99806600	Enhancers	Osteobl	bone
34	chr3:99805000-99807000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr3:99805000-99807400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr3:99805000-99809600	Enhancers	Muscle Satellite Cultured Cells	--
37	chr3:99805200-99806400	Enhancers	ES-I3 Cell Line	embryonic stem cell
38	chr3:99805200-99806600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:99805400-99805800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
40	chr3:99805400-99806200	Enhancers	Cortex derived primary cultured neurospheres	brain
41	chr3:99805400-99806200	Enhancers	Rectal Smooth Muscle	rectum
42	chr3:99805600-99805800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr3:99805600-99805800	Enhancers	GM12878-XiMat	blood
44	chr3:99805600-99806000	Enhancers	Duodenum Mucosa	Duodenum
45	chr3:99805600-99806000	Enhancers	Small Intestine	intestine
46	chr3:99805600-99806200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:99805600-99806200	Enhancers	iPS-20b Cell Line	embryonic stem cell
48	chr3:99805600-99806200	Flanking Active TSS	NHDF-Ad	bronchial
49	chr3:99805600-99806400	Enhancers	iPS-18 Cell Line	embryonic stem cell
50	chr3:99805600-99806400	Enhancers	HepG2	liver

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