Variant report

Variant	rs60636203
Chromosome Location	chr3:48690712-48690713
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:48689444..48692588-chr3:48693029..48695522,3	MCF-7	breast:
2	chr3:48682702..48685001-chr3:48689313..48691149,2	K562	blood:

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs34397126	0.83[AFR][1000 genomes]
rs57555186	1.00[AMR][1000 genomes]
rs73830470	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830472	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73830473	1.00[AMR][1000 genomes]
rs73830477	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1008232	chr3:48517121-48702416	Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv523981	chr3:48520289-48721040	Weak transcription Enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv834685	chr3:48565009-48745774	Strong transcription Active TSS Genic enhancers Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
4	nsv876762	chr3:48591481-48731487	Strong transcription Enhancers Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
5	nsv818138	chr3:48610925-48731487	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv590246	chr3:48628014-48721040	Flanking Active TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv590247	chr3:48661985-48801929	Transcr. at gene 5' and 3' Strong transcription Active TSS Genic enhancers Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
8	nsv876763	chr3:48669648-48710310	Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:48673600-48693400	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:48673800-48692800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr3:48674000-48692600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr3:48674000-48693400	Weak transcription	Fetal Brain Male	brain
5	chr3:48674000-48693600	Weak transcription	Brain Substantia Nigra	brain
6	chr3:48674200-48692600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
7	chr3:48674400-48691000	Weak transcription	Spleen	Spleen
8	chr3:48674400-48692800	Weak transcription	Placenta	Placenta
9	chr3:48674400-48692800	Weak transcription	Right Ventricle	heart
10	chr3:48674400-48693600	Weak transcription	Gastric	stomach
11	chr3:48674800-48692600	Strong transcription	Fetal Brain Female	brain
12	chr3:48674800-48695600	Weak transcription	Hela-S3	cervix
13	chr3:48675000-48693600	Weak transcription	A549	lung
14	chr3:48675000-48694200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
15	chr3:48675000-48697200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr3:48675200-48692400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr3:48676600-48691800	Strong transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:48677600-48692200	Strong transcription	Brain Germinal Matrix	brain
19	chr3:48680000-48695400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:48683400-48691000	Weak transcription	Thymus	Thymus
21	chr3:48684400-48692200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
22	chr3:48684400-48692600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
23	chr3:48685200-48691800	Strong transcription	iPS-15b Cell Line	embryonic stem cell
24	chr3:48686800-48690800	Weak transcription	Fetal Intestine Large	intestine
25	chr3:48687400-48692600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
26	chr3:48688000-48692200	Strong transcription	HUES64 Cell Line	embryonic stem cell
27	chr3:48688200-48691400	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr3:48688200-48692600	Weak transcription	Primary T cells from cord blood	blood
29	chr3:48688400-48692200	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
30	chr3:48688600-48692600	Strong transcription	Brain Inferior Temporal Lobe	brain
31	chr3:48688600-48692800	Weak transcription	Colonic Mucosa	Colon
32	chr3:48688800-48692800	Weak transcription	Brain Cingulate Gyrus	brain
33	chr3:48689400-48693000	Weak transcription	Rectal Mucosa Donor 31	rectum
34	chr3:48689600-48692600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr3:48689600-48692800	Weak transcription	Stomach Mucosa	stomach
36	chr3:48689800-48691400	Strong transcription	Brain Anterior Caudate	brain
37	chr3:48690000-48691400	Bivalent/Poised TSS	Foreskin Fibroblast Primary Cells skin02	Skin
38	chr3:48690000-48691800	Strong transcription	Brain Hippocampus Middle	brain
39	chr3:48690000-48692800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr3:48690200-48691200	Strong transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr3:48690200-48691400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr3:48690200-48691600	Strong transcription	Pancreatic Islets	Pancreatic Islet
43	chr3:48690200-48691800	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
44	chr3:48690200-48692600	Weak transcription	Fetal Intestine Small	intestine
45	chr3:48690200-48693200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:48690400-48691600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
47	chr3:48690600-48691000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
48	chr3:48690600-48691400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr3:48690600-48691800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
50	chr3:48690600-48691800	Strong transcription	Brain Angular Gyrus	brain

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