Variant report

Variant	rs532541102
Chromosome Location	chr3:119133429-119133430
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:119130788..119134912-chr3:119135156..119139620,7	K562	blood:
2	chr3:119126605..119128685-chr3:119132241..119134737,2	K562	blood:
3	chr3:119132282..119134747-chr3:119135512..119137174,2	MCF-7	breast:
4	chr3:119133389..119135165-chr3:119214613..119217502,2	K562	blood:

Variant related genes	Relation type
ENSG00000272662	Chromatin interaction
ENSG00000113845	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3487859	chr3:118570588-119419623	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv3487860	chr3:118570588-119419623	Strong transcription Enhancers Active TSS Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv829694	chr3:119011488-119153579	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
4	nsv3962	chr3:119094646-119135321	Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3'	Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	esv997290	chr3:119127141-119135667	Genic enhancers Strong transcription Weak transcription Enhancers Flanking Active TSS ZNF genes & repeats	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
6	nsv822227	chr3:119133049-119135021	Weak transcription Strong transcription Genic enhancers Enhancers ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:93 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:119072000-119133800	Weak transcription	Brain Cingulate Gyrus	brain
2	chr3:119080000-119145600	Weak transcription	Fetal Kidney	kidney
3	chr3:119081200-119135600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr3:119082800-119138000	Weak transcription	Small Intestine	intestine
5	chr3:119085200-119139000	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr3:119088000-119134200	Weak transcription	NHDF-Ad	bronchial
7	chr3:119098000-119136800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
8	chr3:119098400-119138200	Strong transcription	Adipose Nuclei	Adipose
9	chr3:119098600-119137400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
10	chr3:119102600-119134800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr3:119106800-119137400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr3:119109200-119136400	Weak transcription	Skeletal Muscle Female	skeletal muscle
13	chr3:119110200-119140800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr3:119112000-119147400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
15	chr3:119112200-119138800	Weak transcription	Colonic Mucosa	Colon
16	chr3:119113200-119140400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
17	chr3:119113400-119138000	Strong transcription	Fetal Stomach	stomach
18	chr3:119119000-119138800	Weak transcription	Rectal Mucosa Donor 31	rectum
19	chr3:119121200-119150000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
20	chr3:119121400-119135800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
21	chr3:119121400-119136000	Weak transcription	Esophagus	oesophagus
22	chr3:119123000-119136200	Weak transcription	Primary T cells fromperipheralblood	blood
23	chr3:119124400-119134400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr3:119124600-119135000	Weak transcription	Brain Angular Gyrus	brain
25	chr3:119127000-119135200	Strong transcription	Fetal Muscle Leg	muscle
26	chr3:119127200-119138200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
27	chr3:119127600-119136200	Strong transcription	Fetal Muscle Trunk	muscle
28	chr3:119128000-119135800	Strong transcription	Stomach Smooth Muscle	stomach
29	chr3:119128200-119135000	Strong transcription	Primary monocytes fromperipheralblood	blood
30	chr3:119128600-119137000	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr3:119129000-119138400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr3:119129200-119133800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
33	chr3:119130000-119135400	Weak transcription	Liver	Liver
34	chr3:119130200-119139200	Weak transcription	Rectal Smooth Muscle	rectum
35	chr3:119130400-119134000	Weak transcription	Brain Anterior Caudate	brain
36	chr3:119130600-119137000	Weak transcription	HSMM	muscle
37	chr3:119130600-119137200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:119130600-119138400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
39	chr3:119130800-119134200	Weak transcription	HUVEC	blood vessel
40	chr3:119130800-119134400	Weak transcription	Colon Smooth Muscle	Colon
41	chr3:119130800-119143600	Weak transcription	GM12878-XiMat	blood
42	chr3:119132000-119137600	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr3:119132200-119135000	Strong transcription	Primary B cells from peripheral blood	blood
44	chr3:119132200-119135200	Strong transcription	Primary T helper cells fromperipheralblood	blood
45	chr3:119132200-119136600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
46	chr3:119132400-119135000	Strong transcription	Aorta	Aorta
47	chr3:119132400-119135000	Strong transcription	Sigmoid Colon	Sigmoid Colon
48	chr3:119132400-119135200	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr3:119132400-119135200	Strong transcription	Muscle Satellite Cultured Cells	--
50	chr3:119132400-119135200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood

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