Variant report

Variant	rs2496249
Chromosome Location	chr1:152080348-152080349
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	chr1:152073757..152075757-chr1:152077578..152080436,2	K562	blood:
2	chr1:152078746..152081209-chr1:152082799..152085441,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007097	chr1:151832796-152227977	Strong transcription Genic enhancers Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
2	nsv1012327	chr1:151835544-152200890	Enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
3	nsv535159	chr1:151835544-152200890	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	196 gene(s)	inside rSNPs	diseases
4	nsv547853	chr1:152008671-152236760	Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Bivalent/Poised TSS Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
5	nsv872442	chr1:152054120-152187641	Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Enhancers Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
6	nsv438037	chr1:152079989-152084039	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3'	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:70 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:152079800-152080400	Bivalent Enhancer	ES-UCSF4 Cell Line	embryonic stem cell
2	chr1:152079800-152080400	Bivalent Enhancer	Primary neutrophils fromperipheralblood	blood
3	chr1:152079800-152080400	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
4	chr1:152079800-152080400	Flanking Bivalent TSS/Enh	Placenta	Placenta
5	chr1:152079800-152080600	Bivalent Enhancer	Placenta Amnion	Placenta Amnion
6	chr1:152079800-152080800	Enhancers	Gastric	stomach
7	chr1:152079800-152081200	Flanking Bivalent TSS/Enh	HUVEC	blood vessel
8	chr1:152079800-152081400	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr1:152079800-152081600	Bivalent/Poised TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr1:152079800-152081800	ZNF genes & repeats	Aorta	Aorta
11	chr1:152079800-152082000	Bivalent/Poised TSS	Brain Substantia Nigra	brain
12	chr1:152079800-152082200	Bivalent/Poised TSS	iPS-15b Cell Line	embryonic stem cell
13	chr1:152079800-152082800	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr1:152079800-152083000	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
15	chr1:152079800-152083200	ZNF genes & repeats	Lung	lung
16	chr1:152079800-152084400	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr1:152079800-152085400	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
18	chr1:152079800-152085400	Flanking Bivalent TSS/Enh	Monocytes-CD14+_RO01746	blood
19	chr1:152080000-152080400	Flanking Bivalent TSS/Enh	Esophagus	oesophagus
20	chr1:152080000-152080400	Bivalent Enhancer	Left Ventricle	heart
21	chr1:152080000-152081000	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin01	Skin
22	chr1:152080000-152081000	Bivalent/Poised TSS	A549	lung
23	chr1:152080000-152081200	Flanking Bivalent TSS/Enh	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr1:152080000-152081200	Bivalent/Poised TSS	H9 Cell Line	embryonic stem cell
25	chr1:152080000-152081200	Bivalent/Poised TSS	HUES48 Cell Line	embryonic stem cell
26	chr1:152080000-152081200	Bivalent/Poised TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr1:152080000-152081400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
28	chr1:152080000-152081400	Flanking Bivalent TSS/Enh	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:152080000-152081400	Bivalent/Poised TSS	Rectal Mucosa Donor 29	rectum
30	chr1:152080000-152081600	ZNF genes & repeats	Pancreas	Pancrea
31	chr1:152080000-152081600	ZNF genes & repeats	Right Atrium	heart
32	chr1:152080000-152081800	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr1:152080000-152081800	Bivalent Enhancer	Primary T helper cells fromperipheralblood	blood
34	chr1:152080000-152081800	Bivalent/Poised TSS	NHDF-Ad	bronchial
35	chr1:152080000-152082400	Flanking Bivalent TSS/Enh	HMEC	breast
36	chr1:152080000-152082600	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
37	chr1:152080000-152082600	Bivalent/Poised TSS	NHLF	lung
38	chr1:152080000-152083800	ZNF genes & repeats	HSMM	muscle
39	chr1:152080000-152085000	Bivalent/Poised TSS	Primary T cells from cord blood	blood
40	chr1:152080000-152085600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
41	chr1:152080200-152080400	Bivalent Enhancer	Primary hematopoietic stem cells	blood
42	chr1:152080200-152080400	Bivalent/Poised TSS	Colonic Mucosa	Colon
43	chr1:152080200-152080600	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
44	chr1:152080200-152080600	Bivalent/Poised TSS	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr1:152080200-152080600	Bivalent Enhancer	Liver	Liver
46	chr1:152080200-152080600	Bivalent/Poised TSS	Brain Cingulate Gyrus	brain
47	chr1:152080200-152080600	Bivalent/Poised TSS	Fetal Adrenal Gland	Adrenal Gland
48	chr1:152080200-152080600	Bivalent Enhancer	Fetal Muscle Leg	muscle
49	chr1:152080200-152080600	Flanking Bivalent TSS/Enh	Spleen	Spleen
50	chr1:152080200-152080800	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell

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