Variant report

Variant	rs578072463
Chromosome Location	chr1:92193031-92193032
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	chr1:92189258..92193188-chr1:92194522..92196591,3	K562	blood:

Extended variants
information (count: 10 )
Associated
traits (count: 0)

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	nsv1009560	chr1:91897078-92270781	Enhancers Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv1012864	chr1:92067100-92827761	Flanking Active TSS Strong transcription Enhancers Active TSS Weak transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
3	nsv535029	chr1:92067100-92827761	Strong transcription Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv2763581	chr1:92068967-92203803	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv1014990	chr1:92084142-92206674	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	2 gene(s)	inside rSNPs	diseases
6	nsv530438	chr1:92091957-92827760	Weak transcription Active TSS Strong transcription Flanking Bivalent TSS/Enh Enhancers Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
7	nsv1010179	chr1:92140209-92655952	Weak transcription Genic enhancers Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
8	nsv535030	chr1:92140209-92655952	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
9	nsv1005917	chr1:92189945-92378683	Flanking Active TSS Enhancers Weak transcription Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
10	nsv528991	chr1:92191534-92198162	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:92153000-92197000	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr1:92164000-92195000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr1:92165800-92196800	Weak transcription	Small Intestine	intestine
4	chr1:92171000-92196800	Weak transcription	Rectal Mucosa Donor 31	rectum
5	chr1:92171200-92196800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
6	chr1:92172800-92197000	Weak transcription	Colonic Mucosa	Colon
7	chr1:92173200-92202400	Weak transcription	Brain Cingulate Gyrus	brain
8	chr1:92173600-92197800	Weak transcription	Brain Angular Gyrus	brain
9	chr1:92179400-92195200	Weak transcription	GM12878-XiMat	blood
10	chr1:92180800-92194400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
11	chr1:92182000-92194400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
12	chr1:92184000-92195000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr1:92184800-92195600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr1:92185200-92196600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr1:92185400-92196400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
16	chr1:92185400-92196600	Weak transcription	A549	lung
17	chr1:92185600-92193400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
18	chr1:92185600-92196800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr1:92185800-92194400	Weak transcription	Fetal Intestine Large	intestine
20	chr1:92185800-92194600	Weak transcription	Lung	lung
21	chr1:92185800-92195200	Weak transcription	Primary T helper cells PMA-I stimulated	--
22	chr1:92185800-92196800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
23	chr1:92185800-92196800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
24	chr1:92185800-92196800	Weak transcription	Pancreas	Pancrea
25	chr1:92185800-92197600	Weak transcription	Fetal Intestine Small	intestine
26	chr1:92186000-92194600	Weak transcription	Spleen	Spleen
27	chr1:92186000-92195200	Weak transcription	Esophagus	oesophagus
28	chr1:92186000-92196800	Weak transcription	Gastric	stomach
29	chr1:92186200-92195400	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr1:92186400-92196400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
31	chr1:92187000-92195600	Weak transcription	Hela-S3	cervix
32	chr1:92187200-92195000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr1:92187200-92196400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr1:92187200-92197000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr1:92189200-92194000	Enhancers	Skeletal Muscle Male	skeletal muscle
36	chr1:92189200-92202200	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr1:92189800-92194000	Enhancers	Rectal Smooth Muscle	rectum
38	chr1:92190000-92193400	Genic enhancers	Fetal Lung	lung
39	chr1:92190000-92193600	Enhancers	Fetal Stomach	stomach
40	chr1:92190200-92193200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr1:92190200-92193800	Genic enhancers	Fetal Adrenal Gland	Adrenal Gland
42	chr1:92190400-92193800	Genic enhancers	Adipose Nuclei	Adipose
43	chr1:92190400-92195000	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr1:92190600-92193200	Enhancers	Ovary	ovary
45	chr1:92190600-92193800	Genic enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
46	chr1:92190600-92193800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr1:92190600-92201400	Genic enhancers	NHDF-Ad	bronchial
48	chr1:92191000-92195800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr1:92191200-92195200	Weak transcription	Right Ventricle	heart
50	chr1:92191400-92193200	Genic enhancers	HepG2	liver

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