Variant report

Variant	rs28562062
Chromosome Location	chr4:99369150-99369151
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	chr4:99368820..99371256-chr4:99372389..99374542,2	K562	blood:

Extended variants
information (count: 9 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17027607	0.95[EUR][1000 genomes]
rs28477881	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73832318	0.84[EUR][1000 genomes]
rs73832319	0.84[EUR][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	nsv529623	chr4:98501338-99460166	Weak transcription Flanking Active TSS ZNF genes & repeats Enhancers Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
2	esv2763801	chr4:99094892-99413853	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754250	chr4:99094922-99527122	Strong transcription Flanking Active TSS Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
4	nsv879651	chr4:99105055-99441349	Weak transcription Genic enhancers Flanking Active TSS Strong transcription Enhancers ZNF genes & repeats Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv1004181	chr4:99208152-99529576	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:74 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99337600-99369800	Weak transcription	Fetal Heart	heart
2	chr4:99339000-99370200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr4:99340800-99370600	Weak transcription	Colon Smooth Muscle	Colon
4	chr4:99342800-99370000	Weak transcription	Placenta	Placenta
5	chr4:99346400-99371200	Weak transcription	Fetal Brain Female	brain
6	chr4:99356400-99370200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
7	chr4:99356400-99370600	Weak transcription	Fetal Stomach	stomach
8	chr4:99356800-99370400	Weak transcription	Brain Cingulate Gyrus	brain
9	chr4:99363400-99372400	Weak transcription	Fetal Intestine Small	intestine
10	chr4:99363800-99370200	Weak transcription	Brain Substantia Nigra	brain
11	chr4:99363800-99370600	Weak transcription	NHLF	lung
12	chr4:99363800-99371600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr4:99363800-99372600	Weak transcription	Cortex derived primary cultured neurospheres	brain
14	chr4:99364000-99380800	Weak transcription	Brain Angular Gyrus	brain
15	chr4:99364200-99370800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr4:99364200-99372400	Weak transcription	Fetal Intestine Large	intestine
17	chr4:99364800-99369800	Weak transcription	Fetal Muscle Leg	muscle
18	chr4:99364800-99370000	Weak transcription	Left Ventricle	heart
19	chr4:99364800-99370000	Weak transcription	Lung	lung
20	chr4:99364800-99370600	Weak transcription	Skeletal Muscle Male	skeletal muscle
21	chr4:99365000-99372800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr4:99365600-99370000	Weak transcription	Rectal Mucosa Donor 31	rectum
23	chr4:99365600-99370800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr4:99365600-99373400	Weak transcription	Aorta	Aorta
25	chr4:99365800-99369800	Weak transcription	Duodenum Mucosa	Duodenum
26	chr4:99365800-99370200	Weak transcription	Brain Hippocampus Middle	brain
27	chr4:99366000-99370600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
28	chr4:99366600-99370800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
29	chr4:99366600-99371000	Enhancers	HMEC	breast
30	chr4:99367000-99369800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr4:99367000-99371200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
32	chr4:99367200-99370800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
33	chr4:99367200-99370800	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr4:99367200-99371000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
35	chr4:99367200-99371000	Enhancers	Fetal Thymus	thymus
36	chr4:99367200-99371000	Enhancers	HSMMtube	muscle
37	chr4:99367400-99369400	Flanking Active TSS	Primary B cells from cord blood	blood
38	chr4:99367400-99369400	Enhancers	Small Intestine	intestine
39	chr4:99367400-99370600	Enhancers	Breast Myoepithelial Primary Cells	Breast
40	chr4:99367400-99370800	Enhancers	NHEK	skin
41	chr4:99367400-99371800	Enhancers	HSMM	muscle
42	chr4:99367800-99369200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr4:99367800-99369400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
44	chr4:99368200-99370000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
45	chr4:99368200-99370800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
46	chr4:99368200-99371000	Enhancers	Primary T cells fromperipheralblood	blood
47	chr4:99368200-99371000	Enhancers	Primary T killer memory cells from peripheral blood	blood
48	chr4:99368200-99373200	Weak transcription	Osteobl	bone
49	chr4:99368400-99370200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr4:99368400-99370600	Enhancers	Spleen	Spleen

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