Variant report

Variant	rs4992171
Chromosome Location	chr17:38338545-38338546
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr17:38337616..38339944-chr17:38348078..38350196,2	K562	blood:
2	chr17:38331383..38339312-chr17:38470464..38480799,28	MCF-7	breast:
3	chr17:38337575..38339432-chr17:38344552..38346759,2	K562	blood:
4	chr17:38331368..38338782-chr17:38460574..38470405,11	MCF-7	breast:
5	chr17:38337621..38339131-chr17:38450249..38452283,2	MCF-7	breast:
6	chr17:38336165..38338939-chr17:38598006..38600043,2	MCF-7	breast:
7	chr17:38337957..38340919-chr17:38512994..38515226,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000131759	Chromatin interaction
ENSG00000108352	Chromatin interaction
ENSG00000141753	Chromatin interaction

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

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

rs_ID	r²[population]
rs2227330	1.00[CHD][hapmap]
rs34530029	1.00[CHD][hapmap]
rs4135012	1.00[CHD][hapmap]

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	nsv833444	chr17:38242823-38437280	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv525796	chr17:38306365-38405037	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA miRNA target site	23 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr17:38333200-38347000	Weak transcription	Brain Substantia Nigra	brain
2	chr17:38333600-38339000	Weak transcription	Left Ventricle	heart
3	chr17:38333600-38339800	Weak transcription	Primary T cells from cord blood	blood
4	chr17:38333600-38347000	Weak transcription	Fetal Lung	lung
5	chr17:38334000-38341400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr17:38334000-38347000	Weak transcription	HUVEC	blood vessel
7	chr17:38334200-38346800	Weak transcription	Spleen	Spleen
8	chr17:38334200-38347000	Weak transcription	GM12878-XiMat	blood
9	chr17:38334200-38347400	Weak transcription	Aorta	Aorta
10	chr17:38334400-38346800	Weak transcription	Colon Smooth Muscle	Colon
11	chr17:38334400-38346800	Weak transcription	Ovary	ovary
12	chr17:38334600-38339800	Enhancers	Fetal Muscle Leg	muscle
13	chr17:38334600-38345200	Weak transcription	Right Ventricle	heart
14	chr17:38334600-38346600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
15	chr17:38334600-38346800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr17:38335000-38345000	Weak transcription	Brain Germinal Matrix	brain
17	chr17:38335000-38345400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr17:38335000-38346400	Weak transcription	Stomach Smooth Muscle	stomach
19	chr17:38335200-38340400	Weak transcription	Sigmoid Colon	Sigmoid Colon
20	chr17:38335200-38346600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr17:38335200-38346800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr17:38335200-38346800	Weak transcription	Thymus	Thymus
23	chr17:38335200-38347000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr17:38335200-38347800	Weak transcription	Small Intestine	intestine
25	chr17:38335400-38340400	Weak transcription	Fetal Brain Female	brain
26	chr17:38335400-38346800	Weak transcription	Fetal Brain Male	brain
27	chr17:38335400-38347000	Weak transcription	Brain Cingulate Gyrus	brain
28	chr17:38336000-38339200	Enhancers	Fetal Heart	heart
29	chr17:38336200-38338800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr17:38336400-38347000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr17:38336400-38347000	Weak transcription	NHDF-Ad	bronchial
32	chr17:38336400-38347000	Weak transcription	NHLF	lung
33	chr17:38336600-38346600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr17:38336600-38346600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
35	chr17:38336600-38346800	Weak transcription	Duodenum Smooth Muscle	Duodenum
36	chr17:38336800-38339200	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr17:38336800-38339600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr17:38336800-38339600	Enhancers	Fetal Muscle Trunk	muscle
39	chr17:38336800-38347400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr17:38337000-38338600	Enhancers	Stomach Mucosa	stomach
41	chr17:38337000-38346400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr17:38337000-38346800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
43	chr17:38337000-38347000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr17:38337000-38347000	Weak transcription	Rectal Smooth Muscle	rectum
45	chr17:38337000-38347000	Weak transcription	Osteobl	bone
46	chr17:38337200-38339200	Enhancers	Skeletal Muscle Female	skeletal muscle
47	chr17:38337200-38340600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr17:38337200-38340600	Weak transcription	Brain Inferior Temporal Lobe	brain
49	chr17:38337200-38344600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr17:38337200-38345000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin

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