Variant report

Variant	rs2659547
Chromosome Location	chr4:102036858-102036859
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs2135613	0.89[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs2659536	0.83[EUR][1000 genomes]
rs2659550	0.82[EUR][1000 genomes]
rs2695206	0.81[EUR][1000 genomes]
rs2732516	0.83[EUR][1000 genomes]
rs2850977	0.82[EUR][1000 genomes]
rs28791227	0.82[EUR][1000 genomes]
rs963065	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv931418	chr4:101500167-102443207	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv879669	chr4:101989816-102040091	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
3	nsv879670	chr4:101989816-102043610	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
4	nsv879671	chr4:101989816-102048076	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
5	nsv879672	chr4:101989816-102058842	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
6	nsv879673	chr4:102002123-102043610	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
7	nsv879674	chr4:102002123-102048076	Weak transcription Enhancers Flanking Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent Enhancer Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
8	nsv999741	chr4:102009017-102454115	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
9	nsv537199	chr4:102009017-102454115	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	7 gene(s)	inside rSNPs	diseases
10	nsv1004766	chr4:102009017-102713765	Flanking Active TSS Enhancers Weak transcription Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
11	nsv537200	chr4:102009017-102713765	Weak transcription Flanking Active TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	8 gene(s)	inside rSNPs	diseases
12	nsv879675	chr4:102009827-102043610	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:102025000-102048200	Weak transcription	Left Ventricle	heart
2	chr4:102025600-102049200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
3	chr4:102026000-102046400	Weak transcription	Skeletal Muscle Female	skeletal muscle
4	chr4:102026200-102068600	Weak transcription	Primary T cells from cord blood	blood
5	chr4:102026400-102046000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
6	chr4:102029600-102037400	Weak transcription	A549	lung
7	chr4:102029600-102046600	Weak transcription	Primary B cells from cord blood	blood
8	chr4:102029800-102046200	Weak transcription	Primary T helper cells PMA-I stimulated	--
9	chr4:102030200-102046000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr4:102030200-102049200	Weak transcription	Primary hematopoietic stem cells	blood
11	chr4:102030400-102049600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr4:102032600-102046400	Weak transcription	Psoas Muscle	Psoas
13	chr4:102034200-102044400	Weak transcription	Primary B cells from peripheral blood	blood
14	chr4:102034400-102037800	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr4:102034600-102037800	Enhancers	HepG2	liver
16	chr4:102034800-102037800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr4:102035000-102038000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
18	chr4:102035600-102037000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr4:102035600-102037000	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr4:102035600-102037400	Enhancers	Cortex derived primary cultured neurospheres	brain
21	chr4:102035600-102037600	Enhancers	Stomach Mucosa	stomach
22	chr4:102035600-102037800	Enhancers	HMEC	breast
23	chr4:102035800-102037000	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr4:102035800-102037000	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
25	chr4:102035800-102037400	Enhancers	Brain Angular Gyrus	brain
26	chr4:102036000-102037000	Enhancers	ES-I3 Cell Line	embryonic stem cell
27	chr4:102036000-102037000	Enhancers	Duodenum Mucosa	Duodenum
28	chr4:102036000-102037800	Enhancers	NHEK	skin
29	chr4:102036200-102037800	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
30	chr4:102036200-102039200	Weak transcription	Brain Cingulate Gyrus	brain
31	chr4:102036200-102040200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:102036200-102040400	Weak transcription	Brain Substantia Nigra	brain
33	chr4:102036400-102037000	Active TSS	Brain Hippocampus Middle	brain
34	chr4:102036400-102038400	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr4:102036400-102039800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr4:102036400-102040000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr4:102036400-102040200	Weak transcription	HUES6 Cell Line	embryonic stem cell
38	chr4:102036600-102039200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr4:102036600-102039200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
40	chr4:102036600-102040200	Enhancers	Brain Anterior Caudate	brain
41	chr4:102036600-102046400	Weak transcription	Colon Smooth Muscle	Colon
42	chr4:102036600-102048000	Weak transcription	Small Intestine	intestine
43	chr4:102036600-102049600	Weak transcription	Fetal Intestine Small	intestine
44	chr4:102036800-102037200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
45	chr4:102036800-102037600	Bivalent Enhancer	HUES64 Cell Line	embryonic stem cell

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