Variant report

Variant	rs189988058
Chromosome Location	chr4:3294932-3294933
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:2798786..2800390-chr4:3294087..3295620,2	MCF-7	breast:
2	chr4:3292471..3295854-chr4:3462941..3467927,8	MCF-7	breast:
3	chr4:3293993..3296488-chr4:3491954..3495229,3	MCF-7	breast:
4	chr4:3294234..3297919-chr4:3387466..3390148,3	MCF-7	breast:
5	chr4:3249484..3252398-chr4:3294414..3296079,2	K562	blood:
6	chr4:3292637..3295776-chr4:3483843..3488274,4	MCF-7	breast:
7	chr4:3292758..3295748-chr4:3341243..3344299,3	MCF-7	breast:
8	chr4:3293485..3295010-chr4:3317459..3319780,2	K562	blood:

Variant related genes	Relation type
ENSG00000087266	Chromatin interaction
ENSG00000188981	Chromatin interaction
ENSG00000175920	Chromatin interaction
ENSG00000159788	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3418626	chr4:2741174-3461492	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
2	esv3397632	chr4:2741239-3460583	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	63 gene(s)	inside rSNPs	diseases
3	nsv998290	chr4:3176454-3355758	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv878454	chr4:3215835-3305739	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
5	nsv878455	chr4:3215835-3344891	Strong transcription Enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
6	nsv878456	chr4:3215835-3467519	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	13 gene(s)	inside rSNPs	diseases
7	nsv428106	chr4:3226182-3752322	Enhancers ZNF genes & repeats Weak transcription Strong transcription Active TSS Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
8	nsv878458	chr4:3235518-3303976	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	6 gene(s)	inside rSNPs	diseases
9	nsv878459	chr4:3235518-3310831	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region miRNA target site	7 gene(s)	inside rSNPs	diseases
10	nsv878460	chr4:3260154-3303976	Strong transcription Active TSS Transcr. at gene 5' and 3' Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
11	nsv878461	chr4:3270488-3339038	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
12	nsv593440	chr4:3283422-3339038	Enhancers Weak transcription Bivalent Enhancer Genic enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
13	nsv461165	chr4:3283422-3342137	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
14	nsv593441	chr4:3283422-3342137	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
15	esv3400837	chr4:3293379-3295927	Flanking Active TSS Bivalent/Poised TSS Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
16	esv3381315	chr4:3293754-3296077	Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
17	esv3437726	chr4:3294304-3295652	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
18	esv3372993	chr4:3294704-3297502	Flanking Active TSS Enhancers Weak transcription Bivalent Enhancer Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:3292600-3295600	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr4:3293000-3295600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
3	chr4:3293200-3295400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr4:3293200-3295600	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr4:3293200-3295600	Active TSS	Hela-S3	cervix
6	chr4:3293200-3295600	Active TSS	NHDF-Ad	bronchial
7	chr4:3293200-3295600	Active TSS	NHLF	lung
8	chr4:3293200-3295800	Active TSS	H9 Cell Line	embryonic stem cell
9	chr4:3293200-3295800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
10	chr4:3293400-3295400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
11	chr4:3293400-3295400	Active TSS	Breast Myoepithelial Primary Cells	Breast
12	chr4:3293400-3295400	Active TSS	Psoas Muscle	Psoas
13	chr4:3293400-3295600	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr4:3293400-3295600	Active TSS	Placenta Amnion	Placenta Amnion
15	chr4:3293600-3295200	Active TSS	Pancreas	Pancrea
16	chr4:3293600-3295200	Active TSS	HepG2	liver
17	chr4:3293600-3295400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
18	chr4:3293600-3295400	Active TSS	Aorta	Aorta
19	chr4:3293600-3295400	Active TSS	Esophagus	oesophagus
20	chr4:3293600-3295400	Active TSS	Fetal Brain Female	brain
21	chr4:3293600-3295400	Active TSS	Left Ventricle	heart
22	chr4:3293600-3295400	Active TSS	Right Atrium	heart
23	chr4:3293600-3295600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
24	chr4:3293600-3295600	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr4:3293600-3295600	Active TSS	Ovary	ovary
26	chr4:3293600-3296000	Active TSS	HSMMtube	muscle
27	chr4:3293600-3297000	Active TSS	Fetal Kidney	kidney
28	chr4:3293800-3295200	Active TSS	H1 Cell Line	embryonic stem cell
29	chr4:3293800-3295200	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr4:3293800-3295200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
31	chr4:3293800-3295200	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr4:3293800-3295200	Active TSS	Rectal Mucosa Donor 29	rectum
33	chr4:3293800-3295400	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
34	chr4:3293800-3295400	Active TSS	iPS-20b Cell Line	embryonic stem cell
35	chr4:3293800-3295400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:3293800-3295400	Active TSS	Muscle Satellite Cultured Cells	--
37	chr4:3293800-3295400	Active TSS	Brain Anterior Caudate	brain
38	chr4:3293800-3295400	Active TSS	Colon Smooth Muscle	Colon
39	chr4:3293800-3295400	Active TSS	Fetal Intestine Large	intestine
40	chr4:3293800-3295400	Active TSS	Fetal Intestine Small	intestine
41	chr4:3293800-3295400	Active TSS	Fetal Stomach	stomach
42	chr4:3293800-3295400	Active TSS	Sigmoid Colon	Sigmoid Colon
43	chr4:3293800-3295400	Active TSS	Osteobl	bone
44	chr4:3293800-3295600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
45	chr4:3293800-3295600	Active TSS	HUES48 Cell Line	embryonic stem cell
46	chr4:3293800-3295600	Active TSS	HUES64 Cell Line	embryonic stem cell
47	chr4:3293800-3295600	Active TSS	iPS-15b Cell Line	embryonic stem cell
48	chr4:3293800-3295600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr4:3293800-3295600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
50	chr4:3293800-3295600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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