Variant report

Variant	rs805011
Chromosome Location	chr3:120277718-120277719
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:120139127..120139904-chr3:120277621..120278457,4	MCF-7	breast:
2	chr3:119962793..119963773-chr3:120277431..120278419,4	K562	blood:
3	chr3:120137444..120138878-chr3:120277379..120278358,9	MCF-7	breast:
4	chr3:120136391..120139340-chr3:120276034..120279006,3	MCF-7	breast:
5	chr3:120135445..120137288-chr3:120277206..120278376,12	MCF-7	breast:
6	chr3:120137423..120138991-chr3:120276678..120279072,31	MCF-7	breast:
7	chr3:120277206..120281341-chr3:120281680..120284583,3	K562	blood:
8	chr3:120139169..120141302-chr3:120275834..120278046,2	MCF-7	breast:
9	chr3:119963291..119963851-chr3:120277691..120278381,2	MCF-7	breast:
10	chr3:120139429..120140118-chr3:120277415..120278258,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000175697	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 3 )

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs1370740	0.90[JPT][hapmap]
rs701989	0.84[CEU][hapmap];0.86[GIH][hapmap]
rs810867	0.84[CEU][hapmap]

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	nsv1007557	chr3:119892894-120764353	Enhancers Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
2	nsv536706	chr3:119892894-120764353	Flanking Bivalent TSS/Enh Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1006428	chr3:120015620-120421982	Enhancers Strong transcription Weak transcription Genic enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	esv3369381	chr3:120066425-120425510	Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
5	esv3350409	chr3:120066445-120425480	Genic enhancers Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
6	nsv3970	chr3:120235247-120280294	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
7	nsv508238	chr3:120248574-120329424	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
8	esv3373301	chr3:120273762-120421260	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases
9	esv3404272	chr3:120274212-120294960	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:3)

SNP	Gene	Cis/trans	Tissue	Source
rs805011	GOLGB1	cis	parietal	SCAN
rs805011	HCLS1	cis	parietal	SCAN
rs805011	CASR	cis	cerebellum	SCAN

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120277000-120278000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr3:120277000-120278000	Active TSS	Brain Cingulate Gyrus	brain
3	chr3:120277000-120278600	Flanking Active TSS	Adipose Nuclei	Adipose
4	chr3:120277200-120277800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr3:120277200-120278000	Active TSS	Hela-S3	cervix
6	chr3:120277200-120278200	Active TSS	Brain Germinal Matrix	brain
7	chr3:120277200-120278200	Active TSS	NHDF-Ad	bronchial
8	chr3:120277200-120278400	Active TSS	Fetal Brain Female	brain
9	chr3:120277200-120278800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
10	chr3:120277200-120278800	Flanking Active TSS	HMEC	breast
11	chr3:120277200-120278800	Flanking Active TSS	NH-A	brain
12	chr3:120277200-120279000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
13	chr3:120277400-120277800	Flanking Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr3:120277400-120277800	Flanking Active TSS	Primary hematopoietic stem cells	blood
15	chr3:120277400-120277800	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
16	chr3:120277400-120277800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
17	chr3:120277400-120277800	Flanking Bivalent TSS/Enh	Primary T regulatory cells fromperipheralblood	blood
18	chr3:120277400-120277800	Flanking Active TSS	Primary T killer memory cells from peripheral blood	blood
19	chr3:120277400-120277800	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr3:120277400-120277800	Flanking Active TSS	Fetal Lung	lung
21	chr3:120277400-120277800	Flanking Bivalent TSS/Enh	Dnd41	blood
22	chr3:120277400-120277800	Flanking Bivalent TSS/Enh	HepG2	liver
23	chr3:120277400-120278000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
24	chr3:120277400-120278000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
25	chr3:120277400-120278000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:120277400-120278000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
27	chr3:120277400-120278000	Active TSS	Primary Natural Killer cells fromperipheralblood	blood
28	chr3:120277400-120278000	Active TSS	Brain Angular Gyrus	brain
29	chr3:120277400-120278000	Active TSS	Brain Anterior Caudate	brain
30	chr3:120277400-120278000	Active TSS	Fetal Muscle Trunk	muscle
31	chr3:120277400-120278000	Active TSS	Fetal Stomach	stomach
32	chr3:120277400-120278000	Active TSS	HSMM	muscle
33	chr3:120277400-120278000	Active TSS	K562	blood
34	chr3:120277400-120278000	Active TSS	Monocytes-CD14+_RO01746	blood
35	chr3:120277400-120278200	Active TSS	Breast Myoepithelial Primary Cells	Breast
36	chr3:120277400-120278200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
37	chr3:120277400-120278200	Active TSS	Brain Substantia Nigra	brain
38	chr3:120277400-120278200	Active TSS	Thymus	Thymus
39	chr3:120277400-120278200	Active TSS	A549	lung
40	chr3:120277400-120278400	Flanking Bivalent TSS/Enh	Primary T cells fromperipheralblood	blood
41	chr3:120277400-120278400	Active TSS	Ovary	ovary
42	chr3:120277400-120278400	Active TSS	Right Ventricle	heart
43	chr3:120277400-120278600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
44	chr3:120277400-120278600	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
45	chr3:120277400-120278600	Flanking Active TSS	Liver	Liver
46	chr3:120277400-120278600	Weak transcription	Lung	lung
47	chr3:120277400-120278600	Active TSS	Right Atrium	heart
48	chr3:120277400-120278800	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr3:120277400-120278800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr3:120277400-120278800	Active TSS	Fetal Kidney	kidney

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