Variant report

Variant	rs9812520
Chromosome Location	chr3:159614478-159614479
allele	A/C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:159613166..159615105-chr3:159617900..159620384,2	K562	blood:
2	chr3:159614178..159616312-chr3:159624532..159626099,2	MCF-7	breast:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs2126143	1.00[YRI][hapmap]
rs2886623	1.00[YRI][hapmap]
rs4680530	1.00[ASN][1000 genomes]
rs55691228	1.00[ASN][1000 genomes]
rs9820814	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9831512	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9883824	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv877698	chr3:159583518-159640152	Genic enhancers Weak transcription Enhancers Strong transcription ZNF genes & repeats Active TSS Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases
2	nsv997776	chr3:159585097-159668421	Enhancers Weak transcription Genic enhancers Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
3	nsv829769	chr3:159606913-159805282	Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
4	esv3584505	chr3:159606945-159648615	Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases
5	nsv4086	chr3:159612521-159657780	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:82 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:159590800-159617600	Weak transcription	Placenta Amnion	Placenta Amnion
2	chr3:159599800-159620400	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr3:159601200-159615200	Weak transcription	Fetal Intestine Small	intestine
4	chr3:159601400-159615200	Weak transcription	Ovary	ovary
5	chr3:159601400-159618600	Weak transcription	Fetal Brain Male	brain
6	chr3:159601400-159620400	Weak transcription	HUES6 Cell Line	embryonic stem cell
7	chr3:159601600-159620400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr3:159603000-159617000	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr3:159603400-159616200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
10	chr3:159603800-159615200	Weak transcription	Fetal Intestine Large	intestine
11	chr3:159605800-159620400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
12	chr3:159608800-159616200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr3:159609000-159617000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr3:159609400-159616400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr3:159609400-159616600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
16	chr3:159609600-159614800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr3:159609600-159616800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr3:159609800-159616000	Strong transcription	HUES48 Cell Line	embryonic stem cell
19	chr3:159609800-159617400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
20	chr3:159610200-159614800	Strong transcription	HUVEC	blood vessel
21	chr3:159610200-159616000	Weak transcription	Fetal Stomach	stomach
22	chr3:159610400-159614800	Strong transcription	NH-A	brain
23	chr3:159610600-159615800	Weak transcription	Rectal Smooth Muscle	rectum
24	chr3:159610600-159620400	Weak transcription	H1 Cell Line	embryonic stem cell
25	chr3:159610600-159622800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr3:159610800-159615200	Weak transcription	HMEC	breast
27	chr3:159610800-159615400	Weak transcription	Fetal Kidney	kidney
28	chr3:159610800-159616000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
29	chr3:159610800-159620800	Weak transcription	Liver	Liver
30	chr3:159611000-159615200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:159611000-159616800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:159611200-159614800	Strong transcription	HSMMtube	muscle
33	chr3:159611200-159615200	Weak transcription	Colon Smooth Muscle	Colon
34	chr3:159611200-159617400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:159611400-159618800	Weak transcription	Placenta	Placenta
36	chr3:159611800-159617000	Weak transcription	HUES64 Cell Line	embryonic stem cell
37	chr3:159612000-159615400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr3:159612000-159617000	Strong transcription	Cortex derived primary cultured neurospheres	brain
39	chr3:159612200-159615000	Weak transcription	Brain Germinal Matrix	brain
40	chr3:159612400-159615200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
41	chr3:159612400-159615600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
42	chr3:159612400-159615600	Weak transcription	Duodenum Smooth Muscle	Duodenum
43	chr3:159612400-159616000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
44	chr3:159612400-159616000	Weak transcription	Aorta	Aorta
45	chr3:159612400-159617400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr3:159612400-159617400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
47	chr3:159612400-159628800	Weak transcription	Stomach Smooth Muscle	stomach
48	chr3:159612600-159615400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr3:159612600-159618600	Weak transcription	A549	lung
50	chr3:159612800-159615200	Strong transcription	NHDF-Ad	bronchial

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