Variant report

Variant	rs10511300
Chromosome Location	chr3:111389009-111389010
allele	A/G
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	JUND	chr3:111388633-111389098	HepG2	liver:	n/a	chr3:111388670-111388679
2	REST	chr3:111388898-111389151	SK-N-SH	brain:	n/a	chr3:111389118-111389131 chr3:111389114-111389134
3	FOS	chr3:111388857-111389054	MCF10A-Er-Src	breast:	n/a	n/a
4	POLR2A	chr3:111388771-111389143	SK-N-SH	brain:	n/a	n/a
5	FOS	chr3:111388784-111389095	MCF10A-Er-Src	breast:	n/a	n/a
6	FOSL2	chr3:111388617-111389259	SK-N-SH	brain:	n/a	chr3:111388670-111388679
7	GATA3	chr3:111388371-111389537	SK-N-SH	brain:	n/a	chr3:111389372-111389379
8	JUND	chr3:111388584-111389300	SK-N-SH	brain:	n/a	chr3:111388670-111388679
9	CTCF	chr3:111387323-111389525	A549	lung:	n/a	chr3:111387949-111387962 chr3:111387946-111387964 chr3:111387947-111387963 chr3:111387948-111387969
10	TCF12	chr3:111388380-111389440	SK-N-SH	brain:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:111388505..111391497-chr3:111391977..111394861,5	MCF-7	breast:

Variant related genes	Relation type
PLCXD2	TF binding region
ENSG00000240891	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs16858319	0.83[AMR][1000 genomes]
rs16858353	0.89[AMR][1000 genomes]
rs2895386	0.81[AMR][1000 genomes]
rs56172864	0.81[AMR][1000 genomes]
rs56306480	0.81[AMR][1000 genomes]
rs6768092	0.81[AMR][1000 genomes]
rs73852837	0.84[AMR][1000 genomes]
rs73852849	0.81[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:111384400-111389200	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
2	chr3:111384400-111389400	Enhancers	NHEK	skin
3	chr3:111384400-111389600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr3:111384600-111389400	Enhancers	HMEC	breast
5	chr3:111384800-111390000	Enhancers	Muscle Satellite Cultured Cells	--
6	chr3:111385000-111392600	Weak transcription	Rectal Mucosa Donor 29	rectum
7	chr3:111385400-111392600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
8	chr3:111386400-111390400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
9	chr3:111386600-111389600	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:111386800-111389400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr3:111386800-111389400	Enhancers	A549	lung
12	chr3:111386800-111389800	Enhancers	Osteobl	bone
13	chr3:111386800-111392400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr3:111387000-111392400	Weak transcription	Skeletal Muscle Female	skeletal muscle
15	chr3:111387000-111392600	Enhancers	Primary T cells from cord blood	blood
16	chr3:111387000-111392600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr3:111387000-111392600	Weak transcription	Skeletal Muscle Male	skeletal muscle
18	chr3:111387800-111392600	Weak transcription	GM12878-XiMat	blood
19	chr3:111388000-111389200	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
20	chr3:111388000-111389200	Enhancers	HSMMtube	muscle
21	chr3:111388000-111389400	Enhancers	HSMM	muscle
22	chr3:111388000-111389800	Enhancers	Placenta	Placenta
23	chr3:111388000-111390000	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
24	chr3:111388000-111390200	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr3:111388000-111391600	Weak transcription	Primary hematopoietic stem cells	blood
26	chr3:111388000-111392000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr3:111388000-111392200	Weak transcription	Thymus	Thymus
28	chr3:111388000-111392400	Weak transcription	Rectal Mucosa Donor 31	rectum
29	chr3:111388200-111389800	Weak transcription	Dnd41	blood
30	chr3:111388200-111390000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr3:111388200-111391000	Weak transcription	Primary B cells from cord blood	blood
32	chr3:111388200-111391000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:111388200-111391400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
34	chr3:111388200-111391800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr3:111388200-111391800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr3:111388200-111392200	Weak transcription	Primary B cells from peripheral blood	blood
37	chr3:111388200-111392400	Weak transcription	Duodenum Mucosa	Duodenum
38	chr3:111388200-111392600	Weak transcription	Duodenum Smooth Muscle	Duodenum
39	chr3:111388400-111389200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr3:111388400-111389200	Enhancers	NHLF	lung
41	chr3:111388400-111390000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
42	chr3:111388400-111390000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
43	chr3:111388400-111391000	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr3:111388400-111391000	Weak transcription	Fetal Thymus	thymus
45	chr3:111388400-111392200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr3:111388400-111392400	Weak transcription	Primary neutrophils fromperipheralblood	blood
47	chr3:111388400-111392400	Weak transcription	Colon Smooth Muscle	Colon
48	chr3:111388400-111392600	Weak transcription	HUVEC	blood vessel
49	chr3:111388600-111389200	Enhancers	ES-I3 Cell Line	embryonic stem cell
50	chr3:111388600-111389200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung

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