Variant report

Variant	rs3849175
Chromosome Location	chr1:113461028-113461029
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr1:113456967..113459164-chr1:113460701..113463323,3	K562	blood:
2	chr1:113459631..113461729-chr1:113465509..113467068,2	K562	blood:
3	chr1:113444785..113447653-chr1:113457108..113462049,4	K562	blood:
4	chr1:113459369..113469193-chr1:113493855..113500263,12	K562	blood:
5	chr1:113449050..113451234-chr1:113459095..113461088,2	K562	blood:
6	chr1:113445067..113447939-chr1:113458429..113462240,3	K562	blood:
7	chr1:113460690..113462402-chr1:113501543..113503150,2	K562	blood:
8	chr1:113460022..113462816-chr1:113462818..113464449,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000226419	Chromatin interaction
ENSG00000229020	Chromatin interaction
ENSG00000155380	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1237670	1.00[JPT][hapmap]
rs56161739	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57878960	1.00[AMR][1000 genomes]
rs7512840	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002971	chr1:112924725-113740584	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
2	nsv535059	chr1:112924725-113740584	Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
3	nsv1010276	chr1:113123932-113740584	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	158 gene(s)	inside rSNPs	diseases
4	nsv533295	chr1:113167645-113589588	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
5	nsv1012119	chr1:113214869-113759081	Enhancers Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
6	nsv535060	chr1:113214869-113759081	Enhancers Flanking Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv529238	chr1:113229946-113759080	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	100 gene(s)	inside rSNPs	diseases
8	nsv997426	chr1:113288282-113639507	Active TSS Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	68 gene(s)	inside rSNPs	diseases
9	nsv1004102	chr1:113295805-113551210	Enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
10	esv3399982	chr1:113358580-113542255	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
11	nsv999915	chr1:113360145-113684833	Enhancers Genic enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS 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 miRNA target site	69 gene(s)	inside rSNPs	diseases
12	esv18293	chr1:113375437-113852815	Weak transcription Active TSS Enhancers Flanking Active TSS Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	65 gene(s)	inside rSNPs	diseases
13	nsv1007045	chr1:113425222-113839910	Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	59 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113447800-113470200	Weak transcription	Fetal Kidney	kidney
2	chr1:113449000-113465600	Weak transcription	Placenta	Placenta
3	chr1:113449000-113466000	Weak transcription	Esophagus	oesophagus
4	chr1:113449000-113468400	Weak transcription	Lung	lung
5	chr1:113449600-113470000	Weak transcription	Brain Angular Gyrus	brain
6	chr1:113449600-113474600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
7	chr1:113449600-113477200	Weak transcription	Stomach Mucosa	stomach
8	chr1:113449800-113466000	Weak transcription	Brain Anterior Caudate	brain
9	chr1:113450400-113465800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
10	chr1:113450400-113466200	Weak transcription	Gastric	stomach
11	chr1:113451400-113475400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr1:113452400-113470800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr1:113452600-113462600	Strong transcription	K562	blood
14	chr1:113452800-113473000	Strong transcription	Dnd41	blood
15	chr1:113452800-113476600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr1:113454400-113461600	Strong transcription	HepG2	liver
17	chr1:113454600-113462400	Strong transcription	Liver	Liver
18	chr1:113455000-113462000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr1:113455200-113462200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr1:113455400-113464000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
21	chr1:113455800-113463000	Strong transcription	Duodenum Mucosa	Duodenum
22	chr1:113455800-113472200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:113456200-113461400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr1:113456200-113473000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr1:113456400-113472400	Weak transcription	Primary B cells from peripheral blood	blood
26	chr1:113456600-113463200	Strong transcription	Cortex derived primary cultured neurospheres	brain
27	chr1:113456600-113472800	Strong transcription	H1 Cell Line	embryonic stem cell
28	chr1:113457800-113461200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr1:113458000-113470400	Weak transcription	Fetal Brain Male	brain
30	chr1:113458000-113490600	Weak transcription	Right Atrium	heart
31	chr1:113458200-113462600	Strong transcription	Duodenum Smooth Muscle	Duodenum
32	chr1:113458200-113463800	Strong transcription	Left Ventricle	heart
33	chr1:113458200-113466000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
34	chr1:113458200-113473000	Strong transcription	HUES6 Cell Line	embryonic stem cell
35	chr1:113458200-113473400	Strong transcription	iPS-18 Cell Line	embryonic stem cell
36	chr1:113458400-113464600	Weak transcription	Right Ventricle	heart
37	chr1:113458400-113473000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:113458400-113473000	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr1:113458600-113467200	Strong transcription	HUES48 Cell Line	embryonic stem cell
40	chr1:113458600-113478400	Weak transcription	Rectal Smooth Muscle	rectum
41	chr1:113458800-113465000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr1:113458800-113468200	Strong transcription	HMEC	breast
43	chr1:113458800-113470000	Weak transcription	NHDF-Ad	bronchial
44	chr1:113458800-113472400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr1:113458800-113472400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr1:113459000-113462200	Strong transcription	ES-I3 Cell Line	embryonic stem cell
47	chr1:113459000-113462600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr1:113459000-113462600	Strong transcription	Fetal Heart	heart
49	chr1:113459200-113461200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr1:113459200-113461200	Strong transcription	Osteobl	bone

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