Variant report

Variant	rs17031107
Chromosome Location	chr1:113684833-113684834
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:113681546..113685341-chr1:113929914..113934703,7	MCF-7	breast:
2	chr1:113679152..113685949-chr1:113930075..113933879,13	MCF-7	breast:
3	chr1:113683011..113687065-chr1:113687072..113690657,5	K562	blood:
4	chr1:113680385..113687065-chr1:113687067..113690757,6	K562	blood:
5	chr1:113683696..113687122-chr1:113688209..113690807,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000081026	Chromatin interaction

Extended variants
information (count: 43 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs17030801	1.00[EUR][1000 genomes]
rs17030825	1.00[EUR][1000 genomes]
rs17030972	1.00[EUR][1000 genomes]
rs3866218	1.00[EUR][1000 genomes]
rs3892517	1.00[EUR][1000 genomes]
rs41510545	1.00[EUR][1000 genomes]
rs55879014	1.00[EUR][1000 genomes]
rs56037773	1.00[EUR][1000 genomes]
rs57514267	1.00[EUR][1000 genomes]
rs57546902	1.00[EUR][1000 genomes]
rs58175041	1.00[EUR][1000 genomes]
rs60031820	1.00[EUR][1000 genomes]
rs60103137	1.00[EUR][1000 genomes]
rs60860858	1.00[EUR][1000 genomes]
rs61134101	1.00[EUR][1000 genomes]
rs6678201	1.00[EUR][1000 genomes]
rs72982471	1.00[EUR][1000 genomes]
rs72984355	1.00[EUR][1000 genomes]
rs72986328	1.00[EUR][1000 genomes]
rs72986329	1.00[EUR][1000 genomes]
rs72986335	1.00[EUR][1000 genomes]
rs72986336	1.00[EUR][1000 genomes]
rs72986345	1.00[EUR][1000 genomes]
rs73000304	1.00[EUR][1000 genomes]
rs73000323	1.00[EUR][1000 genomes]
rs73000328	1.00[EUR][1000 genomes]
rs7531239	1.00[EUR][1000 genomes]
rs7534668	1.00[EUR][1000 genomes]
rs7539797	1.00[EUR][1000 genomes]
rs7541153	1.00[EUR][1000 genomes]
rs7541182	1.00[AMR][1000 genomes]
rs9308259	1.00[EUR][1000 genomes]
rs9429502	1.00[EUR][1000 genomes]

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	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	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
5	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
6	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
7	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
8	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
9	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
10	nsv427719	chr1:113570229-114078388	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:113667400-113685200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr1:113669600-113685400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
3	chr1:113669600-113689400	Weak transcription	Thymus	Thymus
4	chr1:113669800-113685000	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr1:113669800-113685000	Weak transcription	Primary T helper cells fromperipheralblood	blood
6	chr1:113669800-113690000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
7	chr1:113670000-113685400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr1:113678000-113685000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr1:113682800-113687400	Enhancers	Breast Myoepithelial Primary Cells	Breast
10	chr1:113683000-113685200	Enhancers	Fetal Intestine Large	intestine
11	chr1:113683000-113686200	Enhancers	Stomach Mucosa	stomach
12	chr1:113683000-113687000	Enhancers	Ovary	ovary
13	chr1:113683200-113685000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
14	chr1:113683400-113685000	Enhancers	Primary T cells from cord blood	blood
15	chr1:113683400-113685000	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr1:113683400-113685000	Enhancers	Fetal Intestine Small	intestine
17	chr1:113683400-113685000	Flanking Active TSS	K562	blood
18	chr1:113683400-113685000	Enhancers	NHLF	lung
19	chr1:113683400-113685200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
20	chr1:113683400-113685200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
21	chr1:113683400-113685400	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
22	chr1:113683400-113685600	Enhancers	A549	lung
23	chr1:113683400-113685600	Enhancers	Hela-S3	cervix
24	chr1:113683400-113685600	Enhancers	NHEK	skin
25	chr1:113683400-113685800	Enhancers	Muscle Satellite Cultured Cells	--
26	chr1:113683400-113686000	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
27	chr1:113683400-113686000	Enhancers	Colon Smooth Muscle	Colon
28	chr1:113683400-113686000	Enhancers	Fetal Muscle Leg	muscle
29	chr1:113683400-113686000	Enhancers	Fetal Stomach	stomach
30	chr1:113683400-113686000	Enhancers	HMEC	breast
31	chr1:113683400-113686000	Enhancers	HSMM	muscle
32	chr1:113683400-113686000	Enhancers	NH-A	brain
33	chr1:113683400-113686200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
34	chr1:113683400-113686200	Enhancers	HUVEC	blood vessel
35	chr1:113683400-113686400	Enhancers	Psoas Muscle	Psoas
36	chr1:113683400-113687000	Enhancers	Skeletal Muscle Male	skeletal muscle
37	chr1:113683600-113685000	Weak transcription	HUES64 Cell Line	embryonic stem cell
38	chr1:113683600-113685000	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr1:113683600-113685400	Enhancers	HUES6 Cell Line	embryonic stem cell
40	chr1:113683600-113685400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
41	chr1:113683600-113686400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr1:113683800-113685000	Weak transcription	H9 Cell Line	embryonic stem cell
43	chr1:113683800-113685000	Weak transcription	Skeletal Muscle Female	skeletal muscle
44	chr1:113683800-113685200	Weak transcription	Aorta	Aorta
45	chr1:113683800-113685400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
46	chr1:113683800-113685400	Weak transcription	Rectal Smooth Muscle	rectum
47	chr1:113683800-113686000	Enhancers	Brain Anterior Caudate	brain
48	chr1:113683800-113686200	Enhancers	HSMMtube	muscle
49	chr1:113683800-113689000	Weak transcription	Primary hematopoietic stem cells	blood
50	chr1:113683800-113689200	Weak transcription	Primary T cells fromperipheralblood	blood

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links