Variant report

Variant	rs578072492
Chromosome Location	chr2:187409943-187409944
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:187406067..187412442-chr2:187438004..187442761,8	MCF-7	breast:
2	chr2:187409753..187412549-chr2:187463065..187465596,2	MCF-7	breast:
3	chr2:187405383..187412410-chr2:187452886..187457882,13	MCF-7	breast:
4	chr2:187406917..187410917-chr2:187453199..187456715,8	MCF-7	breast:
5	chr2:187406154..187410015-chr2:187435632..187441776,6	MCF-7	breast:
6	chr2:187392275..187395253-chr2:187409654..187411697,2	MCF-7	breast:
7	chr2:187408692..187413087-chr2:187413826..187419706,7	MCF-7	breast:
8	chr2:187408487..187411855-chr2:187414594..187417273,4	K562	blood:
9	chr2:187408437..187410562-chr2:187417781..187420649,2	K562	blood:
10	chr2:187407559..187410721-chr2:187423895..187426771,4	MCF-7	breast:
11	chr2:187402678..187406003-chr2:187406962..187409944,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000138448	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757844	chr2:187332780-187580547	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer 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
2	esv2759107	chr2:187332780-187580547	Enhancers Bivalent/Poised TSS Active TSS Genic enhancers Weak transcription Strong transcription Flanking Active TSS 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 target site	13 gene(s)	inside rSNPs	diseases
3	nsv459988	chr2:187364878-187440683	Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
4	nsv584031	chr2:187364878-187440683	Enhancers Weak transcription Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	4 gene(s)	inside rSNPs	diseases
5	nsv1004309	chr2:187389880-187455946	Weak transcription Active TSS Flanking Active TSS Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
6	nsv536082	chr2:187389880-187455946	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases
7	nsv875552	chr2:187393729-187505486	Weak transcription Active TSS Enhancers Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
8	nsv962124	chr2:187409210-187423691	Enhancers Weak transcription Flanking Active TSS Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:46 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:187405200-187411800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr2:187406000-187410000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:187406600-187412000	Enhancers	HMEC	breast
4	chr2:187407000-187410000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr2:187407800-187410800	Enhancers	Stomach Mucosa	stomach
6	chr2:187407800-187411000	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
7	chr2:187408200-187412000	Enhancers	ES-I3 Cell Line	embryonic stem cell
8	chr2:187408200-187412200	Enhancers	Hela-S3	cervix
9	chr2:187408400-187410600	Weak transcription	Placenta	Placenta
10	chr2:187408400-187411400	Enhancers	HUES48 Cell Line	embryonic stem cell
11	chr2:187408400-187411400	Enhancers	iPS-15b Cell Line	embryonic stem cell
12	chr2:187408400-187411600	Enhancers	HUES64 Cell Line	embryonic stem cell
13	chr2:187408400-187412000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
14	chr2:187408600-187411000	Enhancers	H1 Cell Line	embryonic stem cell
15	chr2:187408600-187411400	Enhancers	iPS-18 Cell Line	embryonic stem cell
16	chr2:187408800-187410400	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
17	chr2:187408800-187410600	Weak transcription	Psoas Muscle	Psoas
18	chr2:187408800-187410800	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
19	chr2:187408800-187412200	Enhancers	HSMM	muscle
20	chr2:187409000-187410000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:187409000-187410000	Weak transcription	Adipose Nuclei	Adipose
22	chr2:187409000-187410400	Enhancers	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr2:187409000-187410800	Enhancers	HepG2	liver
24	chr2:187409200-187410000	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr2:187409200-187410400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
26	chr2:187409200-187410800	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr2:187409200-187411200	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr2:187409200-187411200	Enhancers	HSMMtube	muscle
29	chr2:187409200-187412000	Enhancers	NH-A	brain
30	chr2:187409400-187410400	Weak transcription	Fetal Lung	lung
31	chr2:187409400-187410600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr2:187409400-187410600	Weak transcription	NHLF	lung
33	chr2:187409400-187411000	Flanking Active TSS	A549	lung
34	chr2:187409400-187412200	Enhancers	NHDF-Ad	bronchial
35	chr2:187409600-187410000	Enhancers	Duodenum Smooth Muscle	Duodenum
36	chr2:187409600-187410600	Weak transcription	Fetal Kidney	kidney
37	chr2:187409600-187411000	Enhancers	NHEK	skin
38	chr2:187409600-187411200	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
39	chr2:187409600-187411400	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr2:187409600-187412000	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr2:187409600-187412200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
42	chr2:187409600-187412200	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr2:187409600-187412200	Enhancers	Muscle Satellite Cultured Cells	--
44	chr2:187409600-187412200	Enhancers	Osteobl	bone
45	chr2:187409800-187410400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
46	chr2:187409800-187411600	Enhancers	HUVEC	blood vessel

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