Variant report

Variant	rs558933264
Chromosome Location	chr3:121466224-121466225
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:121465792..121467849-chr3:121506947..121509810,2	MCF-7	breast:
2	chr3:121463605..121466506-chr3:121466686..121468331,2	MCF-7	breast:
3	chr3:121442817..121449533-chr3:121463247..121470201,7	K562	blood:
4	chr3:121465799..121468529-chr3:121552939..121555166,2	MCF-7	breast:
5	chr3:121451393..121453533-chr3:121465182..121467129,2	K562	blood:
6	chr3:121465631..121470383-chr3:122100201..122104501,4	MCF-7	breast:
7	chr3:121264143..121265643-chr3:121465613..121467128,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000160124	Chromatin interaction
ENSG00000145088	Chromatin interaction
ENSG00000114023	Chromatin interaction
ENSG00000051341	Chromatin interaction
ENSG00000173226	Chromatin interaction
ENSG00000173230	Chromatin interaction

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	nsv591395	chr3:120970900-121501070	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv591396	chr3:120970900-121557533	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription Genic enhancers 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 lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv591397	chr3:120977383-121505882	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv432480	chr3:121355723-121629928	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS 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	39 gene(s)	inside rSNPs	diseases
5	nsv432482	chr3:121364236-121629634	Weak transcription ZNF genes & repeats Strong transcription Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
6	nsv432481	chr3:121364236-121637178	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
7	nsv829703	chr3:121383290-121534493	Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
8	nsv516233	chr3:121419301-121670405	Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
9	esv3399871	chr3:121465162-121467310	Flanking Active TSS Enhancers Active TSS Weak transcription Genic enhancers	Chromatin interactive region	8 gene(s)	inside rSNPs	n/a
10	nsv877383	chr3:121465220-121650736	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases
11	esv3420722	chr3:121465712-121466860	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers	Chromatin interactive region	6 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:104 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:121436600-121466600	Weak transcription	Stomach Mucosa	stomach
2	chr3:121439400-121467200	Weak transcription	Small Intestine	intestine
3	chr3:121444600-121466400	Weak transcription	Rectal Smooth Muscle	rectum
4	chr3:121444800-121466400	Weak transcription	Colonic Mucosa	Colon
5	chr3:121444800-121467200	Weak transcription	Aorta	Aorta
6	chr3:121444800-121467400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr3:121444800-121467400	Weak transcription	Spleen	Spleen
8	chr3:121445200-121466800	Weak transcription	Thymus	Thymus
9	chr3:121445200-121467400	Weak transcription	Esophagus	oesophagus
10	chr3:121445800-121467000	Weak transcription	Fetal Stomach	stomach
11	chr3:121445800-121467400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
12	chr3:121447600-121467000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr3:121447800-121466400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
14	chr3:121447800-121467000	Weak transcription	H1 Cell Line	embryonic stem cell
15	chr3:121448000-121466400	Weak transcription	Colon Smooth Muscle	Colon
16	chr3:121448000-121466400	Weak transcription	Fetal Kidney	kidney
17	chr3:121448200-121466600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
18	chr3:121448400-121466400	Weak transcription	HSMM	muscle
19	chr3:121448400-121466800	Weak transcription	Hela-S3	cervix
20	chr3:121448600-121466400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
21	chr3:121448800-121466400	Weak transcription	Fetal Lung	lung
22	chr3:121448800-121466400	Weak transcription	Placenta Amnion	Placenta Amnion
23	chr3:121448800-121466800	Weak transcription	Primary hematopoietic stem cells	blood
24	chr3:121448800-121467400	Weak transcription	Fetal Muscle Trunk	muscle
25	chr3:121448800-121467400	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr3:121449000-121466400	Weak transcription	Rectal Mucosa Donor 31	rectum
27	chr3:121449000-121466400	Weak transcription	HepG2	liver
28	chr3:121449000-121466800	Weak transcription	Primary neutrophils fromperipheralblood	blood
29	chr3:121449000-121467200	Weak transcription	Primary B cells from peripheral blood	blood
30	chr3:121449000-121467200	Weak transcription	Fetal Thymus	thymus
31	chr3:121449600-121466400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:121449600-121466800	Weak transcription	Primary B cells from cord blood	blood
33	chr3:121449800-121467000	Weak transcription	Primary T cells fromperipheralblood	blood
34	chr3:121449800-121467200	Weak transcription	Placenta	Placenta
35	chr3:121450000-121466400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr3:121450000-121466400	Weak transcription	Fetal Intestine Large	intestine
37	chr3:121450000-121467000	Weak transcription	Primary monocytes fromperipheralblood	blood
38	chr3:121450400-121466400	Weak transcription	HSMMtube	muscle
39	chr3:121450400-121466800	Weak transcription	Primary T cells from cord blood	blood
40	chr3:121450400-121467400	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
41	chr3:121450600-121466400	Weak transcription	HUES64 Cell Line	embryonic stem cell
42	chr3:121450600-121466400	Weak transcription	Brain Substantia Nigra	brain
43	chr3:121451000-121466400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr3:121453800-121466400	Weak transcription	HMEC	breast
45	chr3:121454200-121466400	Weak transcription	NHDF-Ad	bronchial
46	chr3:121454200-121466800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
47	chr3:121454400-121466400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr3:121455000-121466800	Weak transcription	NHEK	skin
49	chr3:121455400-121466400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
50	chr3:121455400-121466400	Weak transcription	Muscle Satellite Cultured Cells	--

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