Variant report

Variant	rs116420612
Chromosome Location	chr4:677812-677813
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:514891..517080-chr4:677730..679355,2	MCF-7	breast:
2	chr4:595977..599927-chr4:674651..678190,4	MCF-7	breast:
3	chr4:675536..678279-chr4:719522..721602,2	K562	blood:
4	chr4:677478..678415-chr4:694566..695363,2	MCF-7	breast:
5	chr4:676665..678660-chr4:1340906..1343880,2	MCF-7	breast:
6	chr4:676118..678375-chr4:722491..724316,2	K562	blood:

Variant related genes	Relation type
ENSG00000163945	Chromatin interaction
ENSG00000174227	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:25 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1011715	chr4:43860-823487	Active TSS Weak transcription Bivalent Enhancer Bivalent/Poised TSS Strong transcription Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	76 gene(s)	inside rSNPs	diseases
2	esv2830422	chr4:72247-681939	Flanking Active TSS Enhancers Strong transcription Weak transcription ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
3	nsv931097	chr4:72447-683874	Strong transcription Active TSS Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
4	nsv532702	chr4:72447-755236	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv1005224	chr4:507005-900281	Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Strong transcription Weak transcription Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	41 gene(s)	inside rSNPs	diseases
6	nsv536976	chr4:507005-900281	Weak transcription Enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Active TSS Strong transcription 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	41 gene(s)	inside rSNPs	diseases
7	nsv878245	chr4:509178-694613	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv822425	chr4:540105-1413799	Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Strong transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	108 gene(s)	inside rSNPs	diseases
9	nsv878246	chr4:592507-696848	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
10	esv2757916	chr4:603208-931354	Weak transcription Strong transcription Genic enhancers Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	esv2759217	chr4:603208-931354	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	nsv878247	chr4:607202-925149	Bivalent Enhancer Flanking Active TSS Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
13	nsv530490	chr4:614355-1399150	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Genic enhancers ZNF genes & repeats Strong transcription 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	104 gene(s)	inside rSNPs	diseases
14	nsv593206	chr4:625962-735150	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
15	nsv878248	chr4:645300-685993	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
16	nsv878249	chr4:649639-691026	Bivalent Enhancer Flanking Active TSS Weak transcription Active TSS Enhancers Strong transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
17	esv1829397	chr4:655939-1041957	Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
18	nsv829834	chr4:665477-775524	Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
19	nsv10413	chr4:667204-684301	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
20	nsv593208	chr4:668000-682233	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
21	nsv878250	chr4:668567-683842	Active TSS Enhancers Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
22	nsv878251	chr4:669857-683842	Flanking Active TSS Enhancers Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
23	nsv878252	chr4:669857-685993	Enhancers Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
24	esv3326174	chr4:675602-678100	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
25	esv3358167	chr4:677602-680100	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:674200-678200	Enhancers	Esophagus	oesophagus
2	chr4:675000-680800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr4:675200-678000	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
4	chr4:675200-678000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
5	chr4:675200-678400	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr4:675200-678800	Enhancers	Placenta	Placenta
7	chr4:675200-680400	Weak transcription	NHDF-Ad	bronchial
8	chr4:675200-680600	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr4:675200-680600	Weak transcription	NH-A	brain
10	chr4:675200-680800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr4:675200-680800	Weak transcription	NHLF	lung
12	chr4:675200-682200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
13	chr4:675200-682400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
14	chr4:675200-682600	Weak transcription	GM12878-XiMat	blood
15	chr4:675400-678000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr4:675400-680600	Weak transcription	Osteobl	bone
17	chr4:675400-680800	Weak transcription	Primary B cells from cord blood	blood
18	chr4:675400-681600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
19	chr4:675400-681800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr4:675400-682400	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr4:675800-678000	Enhancers	Sigmoid Colon	Sigmoid Colon
22	chr4:675800-678000	Enhancers	Dnd41	blood
23	chr4:675800-679000	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr4:675800-681600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
25	chr4:676000-678000	Enhancers	Primary hematopoietic stem cells	blood
26	chr4:676000-678400	Enhancers	Fetal Intestine Large	intestine
27	chr4:676000-682000	Weak transcription	HUES48 Cell Line	embryonic stem cell
28	chr4:676200-680800	Weak transcription	HMEC	breast
29	chr4:676400-678000	Enhancers	Primary hematopoietic stem cells short term culture	blood
30	chr4:676400-678000	Enhancers	Rectal Mucosa Donor 29	rectum
31	chr4:676400-678200	Enhancers	Colonic Mucosa	Colon
32	chr4:676400-678200	Genic enhancers	Gastric	stomach
33	chr4:676400-679000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
34	chr4:676600-678200	Enhancers	Fetal Thymus	thymus
35	chr4:676600-678200	Enhancers	Rectal Mucosa Donor 31	rectum
36	chr4:676800-678200	Enhancers	Primary monocytes fromperipheralblood	blood
37	chr4:676800-678200	Enhancers	Skeletal Muscle Female	skeletal muscle
38	chr4:676800-678200	Enhancers	Monocytes-CD14+_RO01746	blood
39	chr4:676800-678400	Enhancers	Fetal Heart	heart
40	chr4:676800-678600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
41	chr4:676800-680400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
42	chr4:677000-678000	Enhancers	Adipose Nuclei	Adipose
43	chr4:677000-678200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
44	chr4:677000-678400	Enhancers	Brain Substantia Nigra	brain
45	chr4:677000-678400	Enhancers	Duodenum Mucosa	Duodenum
46	chr4:677000-678600	Flanking Active TSS	HepG2	liver
47	chr4:677000-682400	Enhancers	Fetal Muscle Leg	muscle
48	chr4:677200-678000	Enhancers	Left Ventricle	heart
49	chr4:677200-678200	Enhancers	Right Ventricle	heart
50	chr4:677200-678400	Enhancers	Brain Hippocampus Middle	brain

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