Variant report

Variant	rs57971051
Chromosome Location	chr3:111435547-111435548
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:111435344..111436034-chr3:111659001..111659706,2	K562	blood:
2	chr1:234297659..234298530-chr3:111435438..111436357,2	MCF-7	breast:
3	chr3:111435213..111435852-chr3:111686469..111687089,2	MCF-7	breast:
4	chr3:111434533..111435893-chr3:111686244..111687114,4	MCF-7	breast:

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs17423838	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs17489748	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2292516	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4381908	0.93[ASN][1000 genomes]
rs56108816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57161413	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60844695	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs66539950	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs67923296	0.89[AFR][1000 genomes];0.97[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68057139	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.86[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591290	chr3:111427455-111462570	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:78 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111410600-111443400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr3:111415200-111454200	Weak transcription	Small Intestine	intestine
3	chr3:111415600-111436000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr3:111415600-111436400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
5	chr3:111418200-111442000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
6	chr3:111419000-111436000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
7	chr3:111419000-111436200	Weak transcription	Stomach Mucosa	stomach
8	chr3:111420400-111450600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr3:111420600-111445600	Weak transcription	HepG2	liver
10	chr3:111424600-111441800	Weak transcription	Thymus	Thymus
11	chr3:111425800-111441200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr3:111425800-111443800	Weak transcription	Dnd41	blood
13	chr3:111426800-111436400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr3:111427000-111442400	Weak transcription	Ovary	ovary
15	chr3:111427200-111448400	Weak transcription	Right Ventricle	heart
16	chr3:111427600-111456000	Weak transcription	Sigmoid Colon	Sigmoid Colon
17	chr3:111428800-111445200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr3:111428800-111451200	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:111429000-111441000	Weak transcription	Primary hematopoietic stem cells	blood
20	chr3:111429400-111446800	Weak transcription	Fetal Intestine Large	intestine
21	chr3:111429600-111442400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:111430600-111435600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
23	chr3:111430600-111436600	Strong transcription	Primary T cells from cord blood	blood
24	chr3:111431400-111441600	Weak transcription	Fetal Stomach	stomach
25	chr3:111431600-111439600	Weak transcription	Fetal Muscle Trunk	muscle
26	chr3:111431600-111440000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr3:111431600-111443800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr3:111431600-111443800	Weak transcription	Fetal Brain Female	brain
29	chr3:111431600-111451400	Weak transcription	Gastric	stomach
30	chr3:111431800-111435600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr3:111431800-111436000	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr3:111431800-111436400	Weak transcription	Fetal Kidney	kidney
33	chr3:111431800-111436400	Weak transcription	NH-A	brain
34	chr3:111432000-111436200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr3:111432000-111436200	Weak transcription	Skeletal Muscle Male	skeletal muscle
36	chr3:111432000-111436600	Strong transcription	Primary T cells fromperipheralblood	blood
37	chr3:111432000-111436600	Weak transcription	Rectal Smooth Muscle	rectum
38	chr3:111432000-111440400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr3:111432000-111442200	Weak transcription	HSMM	muscle
40	chr3:111432000-111448400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
41	chr3:111432000-111448600	Weak transcription	Brain Germinal Matrix	brain
42	chr3:111432200-111436200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr3:111432200-111442200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
44	chr3:111432400-111445000	Weak transcription	Pancreatic Islets	Pancreatic Islet
45	chr3:111433200-111435600	Strong transcription	Primary B cells from cord blood	blood
46	chr3:111433200-111436800	Enhancers	Breast Myoepithelial Primary Cells	Breast
47	chr3:111433400-111435600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
48	chr3:111433600-111435800	Weak transcription	Fetal Intestine Small	intestine
49	chr3:111433600-111439200	Weak transcription	Placenta	Placenta
50	chr3:111433600-111441600	Weak transcription	Muscle Satellite Cultured Cells	--

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