Variant report

Variant	rs701989
Chromosome Location	chr3:120277583-120277584
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

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

No data

Variant related genes	Relation type
ENSG00000175697	Chromatin interaction

Extended variants
information (count: 11 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:2)

rs_ID	r²[population]
rs1147730	1.00[JPT][hapmap]
rs805011	0.84[CEU][hapmap];0.86[GIH][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs701989	CASR	cis	cerebellum	SCAN
rs701989	GOLGB1	cis	parietal	SCAN

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120274600-120277600	Enhancers	Fetal Brain Male	brain
2	chr3:120276200-120277600	Enhancers	Left Ventricle	heart
3	chr3:120276800-120277600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr3:120276800-120277600	Flanking Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
5	chr3:120276800-120277600	Enhancers	Fetal Heart	heart
6	chr3:120277000-120277600	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
7	chr3:120277000-120277600	Flanking Active TSS	Colon Smooth Muscle	Colon
8	chr3:120277000-120277600	Enhancers	Skeletal Muscle Female	skeletal muscle
9	chr3:120277000-120277600	Flanking Active TSS	Stomach Smooth Muscle	stomach
10	chr3:120277000-120277600	Flanking Active TSS	NHLF	lung
11	chr3:120277000-120277600	Flanking Active TSS	Osteobl	bone
12	chr3:120277000-120278000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
13	chr3:120277000-120278000	Active TSS	Brain Cingulate Gyrus	brain
14	chr3:120277000-120278600	Flanking Active TSS	Adipose Nuclei	Adipose
15	chr3:120277200-120277600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
16	chr3:120277200-120277600	Bivalent Enhancer	H1 Cell Line	embryonic stem cell
17	chr3:120277200-120277600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:120277200-120277600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr3:120277200-120277600	Bivalent Enhancer	Primary B cells from peripheral blood	blood
20	chr3:120277200-120277600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr3:120277200-120277600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
22	chr3:120277200-120277600	Flanking Active TSS	Muscle Satellite Cultured Cells	--
23	chr3:120277200-120277600	Flanking Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:120277200-120277600	Enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr3:120277200-120277600	Enhancers	Aorta	Aorta
26	chr3:120277200-120277600	Flanking Active TSS	Brain Hippocampus Middle	brain
27	chr3:120277200-120277600	Flanking Active TSS	Brain Inferior Temporal Lobe	brain
28	chr3:120277200-120277600	Flanking Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
29	chr3:120277200-120277600	Enhancers	Colonic Mucosa	Colon
30	chr3:120277200-120277600	Flanking Active TSS	Duodenum Mucosa	Duodenum
31	chr3:120277200-120277600	Flanking Active TSS	Duodenum Smooth Muscle	Duodenum
32	chr3:120277200-120277600	Enhancers	Fetal Intestine Large	intestine
33	chr3:120277200-120277600	Enhancers	Pancreas	Pancrea
34	chr3:120277200-120277600	Enhancers	Psoas Muscle	Psoas
35	chr3:120277200-120277600	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr3:120277200-120277600	Flanking Active TSS	Rectal Smooth Muscle	rectum
37	chr3:120277200-120277600	Enhancers	Sigmoid Colon	Sigmoid Colon
38	chr3:120277200-120277800	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr3:120277200-120278000	Active TSS	Hela-S3	cervix
40	chr3:120277200-120278200	Active TSS	Brain Germinal Matrix	brain
41	chr3:120277200-120278200	Active TSS	NHDF-Ad	bronchial
42	chr3:120277200-120278400	Active TSS	Fetal Brain Female	brain
43	chr3:120277200-120278800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
44	chr3:120277200-120278800	Flanking Active TSS	HMEC	breast
45	chr3:120277200-120278800	Flanking Active TSS	NH-A	brain
46	chr3:120277200-120279000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr3:120277400-120277600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr3:120277400-120277600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr3:120277400-120277600	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell
50	chr3:120277400-120277600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell

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