Variant report

Variant	rs550026962
Chromosome Location	chr7:100397063-100397064
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:24)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:24 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:100396790..100397748-chr7:100449511..100450243,3	MCF-7	breast:
2	chr7:100397045..100397664-chr7:100423201..100424033,3	MCF-7	breast:
3	chr7:100395777..100398159-chr7:100465116..100466979,2	MCF-7	breast:
4	chr7:100396372..100398023-chr7:100449385..100450466,7	K562	blood:
5	chr7:100395700..100398001-chr7:100459019..100461683,2	K562	blood:
6	chr7:100396968..100399232-chr7:100399904..100402635,3	K562	blood:
7	chr7:100396723..100397558-chr7:100423449..100424411,5	MCF-7	breast:
8	chr7:100395722..100403808-chr7:100446660..100452489,13	K562	blood:
9	chr7:100394642..100397272-chr7:100423099..100424771,2	K562	blood:
10	chr7:100395173..100397781-chr7:100398399..100402175,4	K562	blood:
11	chr7:100394796..100404152-chr7:100420595..100427156,30	MCF-7	breast:
12	chr7:100395682..100398550-chr7:100487291..100488831,2	K562	blood:
13	chr7:100396860..100402994-chr7:100420596..100426493,12	MCF-7	breast:
14	chr7:100395722..100399460-chr7:100448041..100450326,3	K562	blood:
15	chr7:100395512..100400590-chr7:100483994..100490629,8	K562	blood:
16	chr7:100395749..100397621-chr7:100448376..100451334,2	MCF-7	breast:
17	chr7:100301814..100305937-chr7:100395370..100399067,4	K562	blood:
18	chr7:100395163..100402625-chr7:100430790..100439308,9	K562	blood:
19	chr7:100388495..100393030-chr7:100395666..100399292,5	MCF-7	breast:
20	chr7:100395758..100398887-chr7:100432685..100435250,3	K562	blood:
21	chr7:100396999..100399481-chr7:100432100..100434547,2	MCF-7	breast:
22	chr7:100397049..100397573-chr7:100720945..100721487,2	K562	blood:
23	chr7:100389809..100393337-chr7:100395699..100399454,7	MCF-7	breast:
24	chr7:100396962..100397696-chr7:100449176..100450349,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000146828	Chromatin interaction
ENSG00000236305	Chromatin interaction
ENSG00000196411	Chromatin interaction
ENSG00000087087	Chromatin interaction
ENSG00000087077	Chromatin interaction
ENSG00000172336	Chromatin interaction
ENSG00000176125	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv1829095	chr7:99814675-100494084	Bivalent Enhancer Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	393 gene(s)	inside rSNPs	diseases
2	nsv470381	chr7:100240191-100431980	Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
3	nsv1020837	chr7:100313122-100508635	Genic enhancers Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
4	nsv888796	chr7:100313420-100423365	Genic enhancers Strong transcription Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
5	esv1832517	chr7:100355490-100749246	Strong transcription Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Enhancers Weak transcription 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 miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
6	esv2758125	chr7:100355490-100749246	Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS ZNF genes & repeats Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
7	esv2759547	chr7:100355490-100749246	Active TSS Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
8	nsv464647	chr7:100374087-100497131	Flanking Active TSS Strong transcription Bivalent/Poised TSS Genic enhancers Enhancers Weak transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
9	nsv607965	chr7:100374087-100497131	Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	90 gene(s)	inside rSNPs	diseases
10	nsv1032673	chr7:100382250-100606794	Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	92 gene(s)	inside rSNPs	diseases
11	nsv888797	chr7:100386900-100482026	Bivalent/Poised TSS Flanking Active TSS Enhancers Genic enhancers Weak transcription Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
12	esv3478314	chr7:100397058-100399155	Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3'	Chromatin interactive region	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:100382600-100400800	Weak transcription	Right Atrium	heart
2	chr7:100391800-100397200	Weak transcription	Pancreas	Pancrea
3	chr7:100392000-100398600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
4	chr7:100392200-100398800	Weak transcription	Gastric	stomach
5	chr7:100392200-100399600	Weak transcription	NH-A	brain
6	chr7:100392400-100397200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
7	chr7:100392400-100399400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr7:100392400-100400000	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr7:100392600-100397200	Weak transcription	NHEK	skin
10	chr7:100392600-100399800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr7:100392800-100397200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
12	chr7:100392800-100397200	Weak transcription	HMEC	breast
13	chr7:100392800-100400600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
14	chr7:100393000-100397200	Weak transcription	NHLF	lung
15	chr7:100393000-100399600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr7:100393000-100399800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr7:100393000-100400600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr7:100393000-100400800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
19	chr7:100394400-100397400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:100394800-100399800	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr7:100395200-100397200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
22	chr7:100395400-100397200	Weak transcription	Right Ventricle	heart
23	chr7:100396000-100397600	Enhancers	Primary hematopoietic stem cells short term culture	blood
24	chr7:100396000-100399800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr7:100396000-100400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr7:100396000-100400600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
27	chr7:100396200-100397400	Enhancers	Primary B cells from cord blood	blood
28	chr7:100396200-100397800	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
29	chr7:100396200-100399400	Enhancers	HepG2	liver
30	chr7:100396200-100400200	Enhancers	Fetal Adrenal Gland	Adrenal Gland
31	chr7:100396200-100401800	Enhancers	Primary hematopoietic stem cells	blood
32	chr7:100396400-100397400	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr7:100396400-100397600	Enhancers	Primary B cells from peripheral blood	blood
34	chr7:100396400-100397800	Enhancers	Fetal Muscle Leg	muscle
35	chr7:100396400-100399600	Weak transcription	H1 Cell Line	embryonic stem cell
36	chr7:100396600-100397200	Weak transcription	HUES48 Cell Line	embryonic stem cell
37	chr7:100396600-100397200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
38	chr7:100396600-100397400	Enhancers	HUES6 Cell Line	embryonic stem cell
39	chr7:100396600-100397400	Enhancers	Primary neutrophils fromperipheralblood	blood
40	chr7:100396600-100397400	Enhancers	Monocytes-CD14+_RO01746	blood
41	chr7:100396600-100397600	Enhancers	Fetal Thymus	thymus
42	chr7:100396600-100398600	Enhancers	Spleen	Spleen
43	chr7:100396600-100398800	Enhancers	iPS-15b Cell Line	embryonic stem cell
44	chr7:100396600-100398800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr7:100396800-100397400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
46	chr7:100396800-100397600	Enhancers	HSMM	muscle
47	chr7:100396800-100398000	Enhancers	Rectal Mucosa Donor 31	rectum
48	chr7:100396800-100399000	Enhancers	HUVEC	blood vessel
49	chr7:100397000-100397200	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:100397000-100397200	Enhancers	Lung	lung

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