Variant report

Variant	rs575539286
Chromosome Location	chr1:154820222-154820223
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:154814154..154816151-chr1:154819703..154821824,2	K562	blood:
2	chr1:154781476..154783319-chr1:154818716..154820251,2	K562	blood:
3	chr1:154793548..154796604-chr1:154817553..154820667,3	MCF-7	breast:

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532579	chr1:154548165-155262692	Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Weak transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	575 gene(s)	inside rSNPs	diseases
2	nsv427797	chr1:154559115-154933717	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
3	nsv432931	chr1:154794318-154855055	Weak transcription Flanking Bivalent TSS/Enh Enhancers Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	esv29982	chr1:154818353-154882544	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
5	nsv432942	chr1:154818353-154903047	Flanking Active TSS Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
6	nsv432964	chr1:154820067-154849590	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	nsv432953	chr1:154820067-154855055	Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Strong transcription	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:57 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:154803200-154824600	Enhancers	Fetal Brain Male	brain
2	chr1:154808400-154823600	Enhancers	Fetal Muscle Leg	muscle
3	chr1:154812000-154822000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr1:154812400-154824400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr1:154812600-154822000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr1:154813800-154821600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr1:154813800-154822600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
8	chr1:154814800-154820400	Weak transcription	Pancreas	Pancrea
9	chr1:154815800-154823200	Enhancers	Cortex derived primary cultured neurospheres	brain
10	chr1:154817600-154821200	Enhancers	Psoas Muscle	Psoas
11	chr1:154817800-154823200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
12	chr1:154818000-154821000	Enhancers	Left Ventricle	heart
13	chr1:154818000-154821200	Enhancers	Spleen	Spleen
14	chr1:154818400-154820800	Enhancers	Ovary	ovary
15	chr1:154818600-154820400	Enhancers	GM12878-XiMat	blood
16	chr1:154818800-154820400	Weak transcription	Rectal Smooth Muscle	rectum
17	chr1:154818800-154821200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr1:154819200-154820800	Enhancers	Right Atrium	heart
19	chr1:154819200-154822200	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr1:154819200-154828400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:154819400-154820400	Weak transcription	Lung	lung
22	chr1:154819400-154822000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:154819400-154822000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
24	chr1:154819400-154822600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr1:154819400-154824200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr1:154819800-154821600	Enhancers	Right Ventricle	heart
27	chr1:154819800-154821800	Weak transcription	HUES6 Cell Line	embryonic stem cell
28	chr1:154820000-154820400	Enhancers	Colon Smooth Muscle	Colon
29	chr1:154820000-154820800	Enhancers	Skeletal Muscle Male	skeletal muscle
30	chr1:154820000-154821200	Enhancers	Fetal Stomach	stomach
31	chr1:154820000-154821800	Weak transcription	H1 Cell Line	embryonic stem cell
32	chr1:154820000-154821800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
33	chr1:154820000-154824000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
34	chr1:154820000-154826000	Enhancers	Skeletal Muscle Female	skeletal muscle
35	chr1:154820200-154820400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr1:154820200-154820400	Enhancers	Fetal Thymus	thymus
37	chr1:154820200-154820600	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:154820200-154820600	Flanking Active TSS	Brain Angular Gyrus	brain
39	chr1:154820200-154820600	Flanking Active TSS	Fetal Brain Female	brain
40	chr1:154820200-154820800	Bivalent Enhancer	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr1:154820200-154820800	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
42	chr1:154820200-154820800	Enhancers	Esophagus	oesophagus
43	chr1:154820200-154820800	Enhancers	Placenta	Placenta
44	chr1:154820200-154820800	Enhancers	Rectal Mucosa Donor 29	rectum
45	chr1:154820200-154820800	Bivalent Enhancer	NH-A	brain
46	chr1:154820200-154821000	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr1:154820200-154821000	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr1:154820200-154821000	Flanking Active TSS	Brain Anterior Caudate	brain
49	chr1:154820200-154821000	Flanking Active TSS	Brain Cingulate Gyrus	brain
50	chr1:154820200-154821000	Flanking Active TSS	Brain Hippocampus Middle	brain

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links