Variant report

Variant	rs73181949
Chromosome Location	chr3:120449324-120449325
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:120447696..120450299-chr3:120461200..120463686,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000153767	Chromatin interaction
ENSG00000144840	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs34793874	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs56205540	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56384839	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181934	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181935	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181938	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181942	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181943	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73181947	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183711	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs73183712	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183713	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183717	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183719	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183720	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183721	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183725	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73183729	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7650069	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 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	nsv829699	chr3:120308332-120484695	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	nsv869548	chr3:120320731-121076337	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
5	nsv916869	chr3:120360281-120973169	Active TSS Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers 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	22 gene(s)	inside rSNPs	diseases
6	nsv877378	chr3:120381530-120606438	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
7	nsv965203	chr3:120441087-120449682	Weak transcription Strong transcription Enhancers ZNF genes & repeats Genic enhancers	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:120402800-120456600	Weak transcription	Sigmoid Colon	Sigmoid Colon
2	chr3:120416400-120460600	Weak transcription	Brain Inferior Temporal Lobe	brain
3	chr3:120416800-120460600	Weak transcription	Muscle Satellite Cultured Cells	--
4	chr3:120417600-120456600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr3:120419000-120450800	Weak transcription	Brain Hippocampus Middle	brain
6	chr3:120423000-120460200	Weak transcription	HUVEC	blood vessel
7	chr3:120424600-120450200	Weak transcription	Primary monocytes fromperipheralblood	blood
8	chr3:120425000-120451200	Weak transcription	Primary hematopoietic stem cells	blood
9	chr3:120425000-120456600	Weak transcription	Skeletal Muscle Female	skeletal muscle
10	chr3:120429200-120456200	Weak transcription	Liver	Liver
11	chr3:120438400-120449600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr3:120438400-120456200	Weak transcription	Stomach Smooth Muscle	stomach
13	chr3:120438400-120457600	Weak transcription	Fetal Lung	lung
14	chr3:120438400-120460200	Weak transcription	NHEK	skin
15	chr3:120438400-120460600	Weak transcription	Brain Anterior Caudate	brain
16	chr3:120438400-120460600	Weak transcription	Right Ventricle	heart
17	chr3:120438600-120449400	Weak transcription	HUES48 Cell Line	embryonic stem cell
18	chr3:120438600-120449400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
19	chr3:120438600-120450200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr3:120438600-120451600	Weak transcription	Duodenum Mucosa	Duodenum
21	chr3:120438600-120456200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
22	chr3:120438600-120456400	Weak transcription	Left Ventricle	heart
23	chr3:120438600-120456600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
24	chr3:120438600-120457000	Weak transcription	Spleen	Spleen
25	chr3:120438600-120457200	Weak transcription	Pancreas	Pancrea
26	chr3:120438600-120460000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
27	chr3:120438600-120460400	Weak transcription	Rectal Smooth Muscle	rectum
28	chr3:120439000-120456400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr3:120439000-120456600	Weak transcription	Lung	lung
30	chr3:120439000-120457000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
31	chr3:120439000-120460200	Weak transcription	Primary B cells from cord blood	blood
32	chr3:120439200-120460200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
33	chr3:120439800-120460200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr3:120441200-120456600	Weak transcription	Primary T cells fromperipheralblood	blood
35	chr3:120441200-120456600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
36	chr3:120441400-120449800	Weak transcription	Skeletal Muscle Male	skeletal muscle
37	chr3:120441400-120450000	Weak transcription	Fetal Muscle Trunk	muscle
38	chr3:120441400-120460000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
39	chr3:120441600-120449400	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr3:120441600-120456600	Weak transcription	Monocytes-CD14+_RO01746	blood
41	chr3:120441600-120457000	Weak transcription	Primary T helper cells PMA-I stimulated	--
42	chr3:120442600-120460400	Weak transcription	Brain Substantia Nigra	brain
43	chr3:120443600-120451800	Weak transcription	Cortex derived primary cultured neurospheres	brain
44	chr3:120443800-120456000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
45	chr3:120443800-120460200	Weak transcription	HSMM	muscle
46	chr3:120445000-120460600	Weak transcription	Brain Cingulate Gyrus	brain
47	chr3:120445200-120454800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr3:120445600-120450600	Weak transcription	Fetal Stomach	stomach
49	chr3:120445800-120450600	Weak transcription	NHDF-Ad	bronchial
50	chr3:120446000-120456600	Weak transcription	A549	lung

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