Variant report

Variant	rs558345535
Chromosome Location	chr3:133959801-133959802
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:133958163..133961151-chr3:133961211..133962762,2	K562	blood:
2	chr3:133959513..133961967-chr3:133961988..133964183,2	MCF-7	breast:
3	chr3:133959235..133962152-chr3:133965404..133967966,3	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3522171	chr3:133889405-134156571	Transcr. at gene 5' and 3' Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
2	esv3522172	chr3:133889405-134156571	Weak transcription Flanking Active TSS Strong transcription Enhancers Bivalent/Poised TSS Active TSS Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
3	esv1794616	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
4	esv1798974	chr3:133949713-133973731	Enhancers Weak transcription Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
5	esv1802675	chr3:133949713-133973731	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
6	esv1815799	chr3:133949713-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
7	esv1819695	chr3:133949713-133973731	Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
8	esv1822126	chr3:133949713-133973731	Flanking Active TSS Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
9	esv1839030	chr3:133949713-133973731	Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
10	esv1799165	chr3:133959746-133973731	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases
11	esv1803106	chr3:133959746-133973731	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:133930200-133968000	Weak transcription	Fetal Kidney	kidney
2	chr3:133941000-133961600	Weak transcription	Esophagus	oesophagus
3	chr3:133941400-133967400	Weak transcription	Fetal Muscle Leg	muscle
4	chr3:133943400-133961800	Weak transcription	H1 Cell Line	embryonic stem cell
5	chr3:133950600-133961800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr3:133951200-133960600	Weak transcription	Thymus	Thymus
7	chr3:133951200-133966800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:133952000-133960400	Weak transcription	Hela-S3	cervix
9	chr3:133952200-133965400	Weak transcription	Dnd41	blood
10	chr3:133953200-133967800	Enhancers	Primary T helper cells PMA-I stimulated	--
11	chr3:133953400-133966800	Weak transcription	Brain Angular Gyrus	brain
12	chr3:133954600-133960000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
13	chr3:133954600-133960600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
14	chr3:133954600-133961600	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr3:133954800-133962400	Weak transcription	Colonic Mucosa	Colon
16	chr3:133955000-133961800	Weak transcription	Aorta	Aorta
17	chr3:133955000-133962000	Weak transcription	Fetal Intestine Large	intestine
18	chr3:133955200-133960400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr3:133955200-133961600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
20	chr3:133955600-133961800	Weak transcription	Rectal Mucosa Donor 29	rectum
21	chr3:133955600-133963200	Weak transcription	Brain Cingulate Gyrus	brain
22	chr3:133955800-133961400	Weak transcription	NH-A	brain
23	chr3:133956000-133964400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr3:133956400-133961400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
25	chr3:133956400-133964800	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr3:133956600-133961400	Weak transcription	HSMM	muscle
27	chr3:133956600-133961600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
28	chr3:133956600-133961600	Weak transcription	Fetal Intestine Small	intestine
29	chr3:133956600-133963200	Weak transcription	Primary neutrophils fromperipheralblood	blood
30	chr3:133957200-133961200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
31	chr3:133957200-133963200	Weak transcription	Rectal Smooth Muscle	rectum
32	chr3:133957200-133964600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
33	chr3:133957400-133961200	Weak transcription	Osteobl	bone
34	chr3:133957400-133961400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr3:133957400-133961600	Weak transcription	HUES64 Cell Line	embryonic stem cell
36	chr3:133957400-133961600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
37	chr3:133957400-133961800	Weak transcription	Fetal Lung	lung
38	chr3:133957400-133962200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
39	chr3:133957600-133960400	Weak transcription	Fetal Heart	heart
40	chr3:133957600-133960400	Weak transcription	Skeletal Muscle Female	skeletal muscle
41	chr3:133957600-133961600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
42	chr3:133957600-133961600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr3:133957600-133961800	Weak transcription	Duodenum Mucosa	Duodenum
44	chr3:133957600-133962400	Weak transcription	Brain Anterior Caudate	brain
45	chr3:133957600-133967000	Weak transcription	Stomach Smooth Muscle	stomach
46	chr3:133957600-133968000	Weak transcription	Pancreatic Islets	Pancreatic Islet
47	chr3:133957600-133968000	Weak transcription	Fetal Stomach	stomach
48	chr3:133957800-133961400	Enhancers	HMEC	breast
49	chr3:133957800-133964200	Enhancers	Breast Myoepithelial Primary Cells	Breast
50	chr3:133958000-133961600	Weak transcription	HUES6 Cell Line	embryonic stem cell

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