Variant report

Variant	rs553425612
Chromosome Location	chr2:96774400-96774401
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:96749229..96750745-chr2:96772910..96775152,2	MCF-7	breast:
2	chr2:96770104..96776221-chr2:96777736..96784239,9	MCF-7	breast:
3	chr2:96769737..96771522-chr2:96772870..96775346,2	MCF-7	breast:
4	chr2:96756578..96759551-chr2:96774122..96776954,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000222040	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1840487	chr2:96582807-96836512	Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	48 gene(s)	inside rSNPs	diseases
2	nsv874672	chr2:96637870-96809331	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	21 gene(s)	inside rSNPs	diseases
3	nsv874673	chr2:96647856-96825363	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases
4	esv1825266	chr2:96704118-96830753	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
5	nsv1004129	chr2:96738585-96825363	Enhancers Flanking Bivalent TSS/Enh Weak transcription Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
6	nsv933671	chr2:96739308-97652262	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
7	nsv1000049	chr2:96740430-96796312	Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 gene(s)	inside rSNPs	diseases
8	nsv1000780	chr2:96740430-97671395	Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
9	nsv535826	chr2:96740430-97671395	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	156 gene(s)	inside rSNPs	diseases
10	nsv874675	chr2:96741944-96825363	Bivalent Enhancer Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
11	nsv874676	chr2:96753149-96825363	Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
12	esv1819594	chr2:96755038-96833480	Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Weak transcription Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
13	nsv1008495	chr2:96755070-96825363	Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
14	nsv1002392	chr2:96756289-96815149	Enhancers Flanking Bivalent TSS/Enh Weak transcription Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
15	nsv874677	chr2:96756547-97717345	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
16	nsv1004977	chr2:96757107-96819188	Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
17	nsv1015000	chr2:96757107-96825363	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
18	nsv1001204	chr2:96766559-97728507	Enhancers Flanking Active TSS Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	162 gene(s)	inside rSNPs	diseases
19	nsv535827	chr2:96766559-97728507	Enhancers Active TSS Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS 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 miRNA target site	162 gene(s)	inside rSNPs	diseases
20	nsv1007132	chr2:96767204-96829489	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Weak transcription Bivalent/Poised TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
21	nsv2834	chr2:96772925-96785110	Enhancers Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:58 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:96772000-96782200	Weak transcription	Liver	Liver
2	chr2:96772800-96774400	Enhancers	Fetal Muscle Trunk	muscle
3	chr2:96772800-96774800	Enhancers	Duodenum Smooth Muscle	Duodenum
4	chr2:96772800-96774800	Enhancers	Fetal Muscle Leg	muscle
5	chr2:96773000-96775400	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
6	chr2:96773200-96774400	Enhancers	Gastric	stomach
7	chr2:96773200-96774600	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
8	chr2:96773200-96775600	Enhancers	H1 Cell Line	embryonic stem cell
9	chr2:96773200-96775600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr2:96773200-96775600	Enhancers	Left Ventricle	heart
11	chr2:96773200-96775800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
12	chr2:96773200-96776200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
13	chr2:96773400-96774400	Enhancers	iPS-20b Cell Line	embryonic stem cell
14	chr2:96773400-96774800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
15	chr2:96773400-96775400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr2:96773400-96776200	Enhancers	Right Ventricle	heart
17	chr2:96773600-96774600	Enhancers	Skeletal Muscle Female	skeletal muscle
18	chr2:96773600-96774600	Bivalent Enhancer	Stomach Smooth Muscle	stomach
19	chr2:96773600-96775200	Enhancers	HUES64 Cell Line	embryonic stem cell
20	chr2:96773600-96775400	Enhancers	iPS-18 Cell Line	embryonic stem cell
21	chr2:96773600-96776200	Enhancers	Fetal Heart	heart
22	chr2:96773800-96774800	Flanking Active TSS	HepG2	liver
23	chr2:96773800-96775200	Enhancers	HUES48 Cell Line	embryonic stem cell
24	chr2:96773800-96775400	Bivalent Enhancer	H1 Derived Mesenchymal Stem Cells	ES cell derived
25	chr2:96773800-96775400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
26	chr2:96773800-96775600	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr2:96773800-96775600	Enhancers	Placenta	Placenta
28	chr2:96774000-96774400	Enhancers	HSMMtube	muscle
29	chr2:96774000-96774600	Bivalent Enhancer	Fetal Thymus	thymus
30	chr2:96774000-96775000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr2:96774000-96775000	Enhancers	Right Atrium	heart
32	chr2:96774000-96775200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr2:96774000-96775400	Enhancers	H9 Cell Line	embryonic stem cell
34	chr2:96774000-96775400	Enhancers	Spleen	Spleen
35	chr2:96774000-96775600	Bivalent Enhancer	Fetal Stomach	stomach
36	chr2:96774000-96776200	Enhancers	Fetal Intestine Large	intestine
37	chr2:96774000-96776400	Enhancers	Fetal Intestine Small	intestine
38	chr2:96774200-96774600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr2:96774200-96774800	Enhancers	Placenta Amnion	Placenta Amnion
40	chr2:96774200-96775000	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr2:96774200-96775000	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
42	chr2:96774200-96775200	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
43	chr2:96774200-96775200	Enhancers	HSMM	muscle
44	chr2:96774200-96775400	Enhancers	Lung	lung
45	chr2:96774200-96775400	Enhancers	Ovary	ovary
46	chr2:96774400-96774600	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
47	chr2:96774400-96774600	Bivalent Enhancer	Primary hematopoietic stem cells short term culture	blood
48	chr2:96774400-96774600	Bivalent Enhancer	Adipose Nuclei	Adipose
49	chr2:96774400-96774600	Weak transcription	Gastric	stomach
50	chr2:96774400-96774800	Flanking Active TSS	Fetal Muscle Trunk	muscle

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