Variant report

Variant	rs552193860
Chromosome Location	chr7:127998024-127998025
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:8)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:127987637..127990032-chr7:127996587..127999428,2	MCF-7	breast:
2	chr7:127984024..127986561-chr7:127997384..127999577,3	K562	blood:
3	chr7:127996352..127999445-chr7:128029289..128030923,3	K562	blood:
4	chr7:127981245..127984643-chr7:127995336..127998273,3	MCF-7	breast:
5	chr7:127996426..127998366-chr7:128029110..128031908,2	MCF-7	breast:
6	chr7:127993467..127995133-chr7:127996193..127999094,2	K562	blood:
7	chr7:127988724..127990769-chr7:127995960..127998093,2	MCF-7	breast:
8	chr7:127997986..128000354-chr7:128001685..128004213,3	K562	blood:

No data

No data

No data

Extended variants
information (count: 7 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831124	chr7:127970345-128147910	Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Weak transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
2	nsv889191	chr7:127973133-128073326	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
3	nsv608400	chr7:127978820-128048194	Weak transcription Strong transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	19 gene(s)	inside rSNPs	diseases
4	esv2493565	chr7:127985695-128053377	Weak transcription Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
5	esv3478325	chr7:127986726-128053483	Enhancers Strong transcription Weak transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
6	esv3478326	chr7:127986726-128053483	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
7	nsv365384	chr7:127997292-128001042	Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:19 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:127992800-128000600	Weak transcription	Right Atrium	heart
2	chr7:127995800-128000200	Weak transcription	Ovary	ovary
3	chr7:127996400-127998400	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:127996600-127998200	Enhancers	Placenta Amnion	Placenta Amnion
5	chr7:127997000-128000400	Enhancers	Adipose Nuclei	Adipose
6	chr7:127997000-128001000	Weak transcription	HSMMtube	muscle
7	chr7:127997200-128001000	Weak transcription	Left Ventricle	heart
8	chr7:127997400-127999800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:127997400-128000400	Enhancers	Primary neutrophils fromperipheralblood	blood
10	chr7:127997400-128000400	Weak transcription	HSMM	muscle
11	chr7:127997600-128000400	Weak transcription	Right Ventricle	heart
12	chr7:127997600-128000400	Enhancers	Monocytes-CD14+_RO01746	blood
13	chr7:127997600-128000600	Enhancers	Primary monocytes fromperipheralblood	blood
14	chr7:127997600-128000800	Enhancers	Primary B cells from cord blood	blood
15	chr7:127997800-127998400	Enhancers	Spleen	Spleen
16	chr7:127997800-127999000	Genic enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr7:127997800-127999000	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr7:127998000-127998400	Enhancers	Primary hematopoietic stem cells	blood
19	chr7:127998000-128000800	Weak transcription	Fetal Heart	heart

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dbSNP/dbVar ID: rs12345 /nsv7879
a single nucleotide as 0-based coordinates: chr1:12345
chromosomal regions: chr1:12345-34567

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