Variant report

Variant	rs59924993
Chromosome Location	chr3:105395567-105395568
allele	C/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	POLR2A	chr3:105395512-105395816	GM12891	blood:	n/a	n/a
2	POLR2A	chr3:105395479-105395931	GM12878	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:105388597..105390954-chr3:105393490..105396667,3	MCF-7	breast:

Variant related genes	Relation type
CBLB	TF binding region

Extended variants
information (count: 58 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:49)

rs_ID	r²[population]
rs55857799	1.00[AMR][1000 genomes]
rs55949717	1.00[AMR][1000 genomes]
rs56004331	1.00[AMR][1000 genomes]
rs56072602	1.00[AMR][1000 genomes]
rs56249671	1.00[AMR][1000 genomes]
rs56256418	1.00[AMR][1000 genomes]
rs56696279	1.00[AMR][1000 genomes]
rs57184464	1.00[AMR][1000 genomes]
rs58512451	1.00[AMR][1000 genomes]
rs58846261	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58991769	1.00[AMR][1000 genomes]
rs59294274	1.00[AMR][1000 genomes]
rs59347770	1.00[AMR][1000 genomes]
rs59577696	1.00[AMR][1000 genomes]
rs61115724	1.00[AMR][1000 genomes]
rs61230240	1.00[AMR][1000 genomes]
rs61452551	1.00[AMR][1000 genomes]
rs73854347	1.00[AMR][1000 genomes]
rs73854349	1.00[AMR][1000 genomes]
rs73854350	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854352	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854353	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854354	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854355	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854356	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854359	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854361	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854378	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73854385	1.00[AMR][1000 genomes]
rs73854389	1.00[AMR][1000 genomes]
rs73854390	1.00[AMR][1000 genomes]
rs73854392	1.00[AMR][1000 genomes]
rs73854393	1.00[AMR][1000 genomes]
rs73854395	1.00[AMR][1000 genomes]
rs73854396	1.00[AMR][1000 genomes]
rs73854397	1.00[AMR][1000 genomes]
rs73854402	1.00[AMR][1000 genomes]
rs73854884	1.00[AMR][1000 genomes]
rs73854886	1.00[AMR][1000 genomes]
rs73854889	1.00[AMR][1000 genomes]
rs73854892	1.00[AMR][1000 genomes]
rs73855350	1.00[AMR][1000 genomes]
rs73855352	1.00[AMR][1000 genomes]
rs73855362	1.00[AMR][1000 genomes]
rs73855363	1.00[AMR][1000 genomes]
rs73855365	1.00[AMR][1000 genomes]
rs73855366	1.00[AMR][1000 genomes]
rs73857223	1.00[AMR][1000 genomes]
rs73857224	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv525071	chr3:105004853-105409321	Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS 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 miRNA target site	6 gene(s)	inside rSNPs	diseases
2	nsv534224	chr3:105141696-105404293	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
3	nsv829651	chr3:105203424-105402136	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
4	nsv877306	chr3:105372196-105495841	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv877307	chr3:105373836-105465189	Enhancers Genic enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
6	nsv591242	chr3:105373836-105470134	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
7	nsv877308	chr3:105373836-105495841	Strong transcription Weak transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
8	nsv877309	chr3:105373836-105542435	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
9	esv2755185	chr3:105378310-105597310	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:105373000-105419600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr3:105373400-105401600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr3:105373600-105419600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr3:105373800-105406200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr3:105375000-105395600	Weak transcription	Brain Anterior Caudate	brain
6	chr3:105375200-105395600	Weak transcription	Primary monocytes fromperipheralblood	blood
7	chr3:105375800-105399000	Weak transcription	Dnd41	blood
8	chr3:105375800-105405000	Weak transcription	Rectal Smooth Muscle	rectum
9	chr3:105375800-105419600	Weak transcription	Colonic Mucosa	Colon
10	chr3:105375800-105464600	Weak transcription	Small Intestine	intestine
11	chr3:105376000-105395600	Weak transcription	Esophagus	oesophagus
12	chr3:105376000-105438200	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:105376200-105397200	Weak transcription	NHLF	lung
14	chr3:105376400-105395600	Weak transcription	Fetal Brain Male	brain
15	chr3:105376800-105440000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr3:105377200-105399200	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr3:105378000-105395600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr3:105378000-105420800	Weak transcription	HUVEC	blood vessel
19	chr3:105378000-105455400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:105378600-105438600	Weak transcription	Spleen	Spleen
21	chr3:105379000-105437400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
22	chr3:105379200-105440400	Weak transcription	Thymus	Thymus
23	chr3:105380600-105411800	Weak transcription	Brain Substantia Nigra	brain
24	chr3:105382200-105404800	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
25	chr3:105382400-105395600	Weak transcription	Pancreas	Pancrea
26	chr3:105382400-105397200	Weak transcription	Lung	lung
27	chr3:105382400-105405000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr3:105382800-105404000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr3:105383800-105398600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
30	chr3:105384200-105400000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr3:105384600-105404600	Strong transcription	Primary T helper cells PMA-I stimulated	--
32	chr3:105385000-105404600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
33	chr3:105385200-105398000	Strong transcription	HSMM	muscle
34	chr3:105385200-105404400	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr3:105385400-105405200	Strong transcription	Osteobl	bone
36	chr3:105385400-105411000	Weak transcription	HMEC	breast
37	chr3:105385600-105400200	Weak transcription	Fetal Stomach	stomach
38	chr3:105385600-105404400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
39	chr3:105385600-105404400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr3:105385800-105404400	Strong transcription	Primary T helper cells fromperipheralblood	blood
41	chr3:105387200-105420800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
42	chr3:105388400-105421000	Weak transcription	Gastric	stomach
43	chr3:105388600-105395600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
44	chr3:105388600-105419800	Weak transcription	Brain Germinal Matrix	brain
45	chr3:105388800-105395800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
46	chr3:105388800-105398800	Weak transcription	Brain Hippocampus Middle	brain
47	chr3:105388800-105399000	Weak transcription	Skeletal Muscle Male	skeletal muscle
48	chr3:105389000-105397200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr3:105389000-105407200	Weak transcription	HepG2	liver
50	chr3:105389200-105395600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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