Variant report

Variant	rs57344127
Chromosome Location	chr3:111810782-111810783
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:111803684..111806522-chr3:111810279..111813217,3	K562	blood:
2	chr3:111809767..111811797-chr3:111828280..111831117,2	MCF-7	breast:
3	chr3:111803684..111807677-chr3:111807818..111813217,8	K562	blood:

Variant related genes	Relation type
ENSG00000114529	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:42)

rs_ID	r²[population]
rs1492488	1.00[ASN][1000 genomes]
rs1492490	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16859182	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16859186	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16859188	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16859190	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs16859214	1.00[ASN][1000 genomes]
rs16859217	1.00[ASN][1000 genomes]
rs16859220	1.00[ASN][1000 genomes]
rs16859233	1.00[ASN][1000 genomes]
rs16859259	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs16859261	0.85[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs186866	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs192095	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28722116	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340152	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340153	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340155	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340157	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340158	0.91[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340171	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340173	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340174	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs340175	1.00[ASN][1000 genomes]
rs4682083	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs59459588	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6790318	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6790375	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6793177	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6793189	0.91[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7617986	1.00[ASN][1000 genomes]
rs7631566	0.88[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs7649379	1.00[ASN][1000 genomes]
rs9288936	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9814494	0.83[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs9816581	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9822776	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9847052	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9867907	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9874686	0.88[AFR][1000 genomes];0.90[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9880044	0.82[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9881049	0.81[EUR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2755927	chr3:111794310-111834310	Enhancers Flanking Active TSS Genic enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	9 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111806000-111821600	Weak transcription	Lung	lung
2	chr3:111806400-111811200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr3:111806400-111811200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
4	chr3:111806400-111811400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr3:111806800-111811200	Weak transcription	NHLF	lung
6	chr3:111806800-111811400	Weak transcription	Gastric	stomach
7	chr3:111806800-111813600	Weak transcription	Rectal Smooth Muscle	rectum
8	chr3:111806800-111816400	Weak transcription	Aorta	Aorta
9	chr3:111807000-111811000	Weak transcription	Osteobl	bone
10	chr3:111807000-111811200	Weak transcription	H1 Cell Line	embryonic stem cell
11	chr3:111807000-111811200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr3:111807000-111811200	Weak transcription	HUES6 Cell Line	embryonic stem cell
13	chr3:111807000-111811200	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr3:111807000-111811200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr3:111807000-111811200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
16	chr3:111807000-111811200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr3:111807000-111811400	Weak transcription	H9 Cell Line	embryonic stem cell
18	chr3:111807000-111811400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr3:111807000-111811400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:111807000-111811400	Enhancers	Stomach Mucosa	stomach
21	chr3:111807000-111812200	Enhancers	Fetal Intestine Small	intestine
22	chr3:111807000-111816200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr3:111807200-111811000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr3:111807200-111811000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:111807200-111811400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
26	chr3:111807400-111811200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:111807400-111811200	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr3:111807400-111811400	Weak transcription	HMEC	breast
29	chr3:111807400-111814200	Weak transcription	A549	lung
30	chr3:111808600-111811000	Enhancers	Fetal Heart	heart
31	chr3:111808600-111812000	Enhancers	Colonic Mucosa	Colon
32	chr3:111808800-111810800	Enhancers	Fetal Muscle Leg	muscle
33	chr3:111808800-111811400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr3:111808800-111811400	Enhancers	Right Ventricle	heart
35	chr3:111808800-111811600	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr3:111808800-111812200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr3:111808800-111812200	Enhancers	Fetal Thymus	thymus
38	chr3:111809000-111810800	Enhancers	Placenta	Placenta
39	chr3:111809000-111812000	Enhancers	GM12878-XiMat	blood
40	chr3:111809200-111812200	Enhancers	Thymus	Thymus
41	chr3:111809400-111811600	Enhancers	NH-A	brain
42	chr3:111809600-111811200	Weak transcription	NHEK	skin
43	chr3:111809600-111811400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
44	chr3:111809600-111811400	Weak transcription	Adipose Nuclei	Adipose
45	chr3:111809600-111812200	Enhancers	Left Ventricle	heart
46	chr3:111809800-111811000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
47	chr3:111809800-111811000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr3:111809800-111811000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:111809800-111811200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
50	chr3:111809800-111811600	Genic enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links