Variant report

Variant	rs34675858
Chromosome Location	chr3:47902247-47902248
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr3:47902240-47902251	MCF10A-Er-Src	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:47893361..47897321-chr3:47899658..47903190,4	K562	blood:

Variant related genes	Relation type
MAP4	TF binding region

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:26)

rs_ID	r²[population]
rs1060407	1.00[YRI][hapmap]
rs11707679	1.00[YRI][hapmap]
rs11712464	1.00[YRI][hapmap]
rs12632225	1.00[MEX][hapmap]
rs12635438	1.00[YRI][hapmap]
rs1486916	0.82[ASW][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2351249	1.00[AMR][1000 genomes]
rs2593817	1.00[AMR][1000 genomes]
rs319683	0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs319693	1.00[YRI][hapmap]
rs34464659	1.00[MEX][hapmap]
rs4476528	1.00[AMR][1000 genomes]
rs4858863	1.00[YRI][hapmap]
rs55736379	1.00[AMR][1000 genomes]
rs55808934	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6442092	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6442104	1.00[AMR][1000 genomes]
rs6773945	1.00[AMR][1000 genomes]
rs6776963	1.00[YRI][hapmap]
rs7372108	1.00[AMR][1000 genomes]
rs73831515	1.00[AMR][1000 genomes]
rs73831540	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73831544	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7629850	1.00[YRI][hapmap]
rs7640619	1.00[CHD][hapmap]
rs9863220	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv834679	chr3:47749475-47924006	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
2	nsv1006560	chr3:47867461-48037031	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	141 gene(s)	inside rSNPs	diseases
3	nsv1011662	chr3:47891634-48019462	Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
4	nsv536561	chr3:47891634-48019462	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:47867800-47918800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr3:47868000-47903000	Strong transcription	Cortex derived primary cultured neurospheres	brain
3	chr3:47868000-47915200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr3:47868200-47902400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr3:47868400-47902400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
6	chr3:47868400-47903000	Strong transcription	Placenta	Placenta
7	chr3:47868400-47903400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr3:47868400-47903400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr3:47868400-47916400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
10	chr3:47868400-47919000	Strong transcription	Fetal Stomach	stomach
11	chr3:47868600-47902600	Strong transcription	Liver	Liver
12	chr3:47868600-47902800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
13	chr3:47868600-47912200	Strong transcription	Fetal Intestine Small	intestine
14	chr3:47868800-47902400	Strong transcription	Osteobl	bone
15	chr3:47869000-47902400	Strong transcription	Sigmoid Colon	Sigmoid Colon
16	chr3:47869000-47918600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:47870800-47931800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr3:47877200-47903400	Strong transcription	Lung	lung
19	chr3:47877400-47902600	Strong transcription	Spleen	Spleen
20	chr3:47878800-47908400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr3:47879800-47902400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr3:47881600-47903400	Strong transcription	NHEK	skin
23	chr3:47882200-47903000	Strong transcription	Ovary	ovary
24	chr3:47882200-47903600	Strong transcription	Left Ventricle	heart
25	chr3:47884600-47918400	Strong transcription	HUES6 Cell Line	embryonic stem cell
26	chr3:47885000-47914800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr3:47889800-47910000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
28	chr3:47889800-47912600	Weak transcription	Fetal Heart	heart
29	chr3:47891000-47908400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
30	chr3:47891200-47903200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:47891200-47908600	Weak transcription	Fetal Kidney	kidney
32	chr3:47891400-47909600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
33	chr3:47891400-47912000	Weak transcription	Pancreatic Islets	Pancreatic Islet
34	chr3:47891600-47903600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
35	chr3:47892000-47902600	Strong transcription	Stomach Smooth Muscle	stomach
36	chr3:47892200-47906800	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
37	chr3:47893600-47906600	Weak transcription	Small Intestine	intestine
38	chr3:47894200-47912200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr3:47894800-47907000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
40	chr3:47894800-47917400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr3:47894800-47919400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
42	chr3:47895800-47906200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr3:47896600-47919600	Strong transcription	Fetal Muscle Trunk	muscle
44	chr3:47896800-47913200	Strong transcription	Fetal Muscle Leg	muscle
45	chr3:47897400-47902600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
46	chr3:47897600-47904400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
47	chr3:47898800-47902600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:47899000-47903000	Strong transcription	Adipose Nuclei	Adipose
49	chr3:47899000-47903600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr3:47899000-47904800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell

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