Variant report

Variant	rs554607511
Chromosome Location	chr7:26130765-26130766
allele	C/G
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:17)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:17 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:26127526..26133053-chr7:26238305..26241600,7	MCF-7	breast:
2	chr7:26130393..26131271-chr7:26404507..26405104,2	K562	blood:
3	chr7:26122904..26124526-chr7:26129160..26131846,3	MCF-7	breast:
4	chr7:26129567..26132077-chr7:26220760..26223665,4	MCF-7	breast:
5	chr7:26126753..26129598-chr7:26130419..26132828,3	K562	blood:
6	chr7:26126882..26129598-chr7:26130419..26133130,2	K562	blood:
7	chr7:26129244..26131736-chr7:26219781..26221965,2	K562	blood:
8	chr7:26125161..26128089-chr7:26129488..26132458,4	MCF-7	breast:
9	chr7:26129160..26135245-chr7:26236399..26242372,9	MCF-7	breast:
10	chr7:26117990..26136794-chr7:26219781..26234338,53	K562	blood:
11	chr7:26126033..26128739-chr7:26129365..26131958,3	MCF-7	breast:
12	chr7:26127085..26136794-chr7:26224123..26230309,16	K562	blood:
13	chr7:26130355..26130891-chr7:26404343..26405006,2	MCF-7	breast:
14	chr7:26130005..26132099-chr7:26191209..26193646,2	MCF-7	breast:
15	chr7:26129819..26132653-chr7:26238402..26240487,3	K562	blood:
16	chr7:26130269..26131203-chr7:26324356..26325072,3	K562	blood:
17	chr7:26127176..26132084-chr7:26132908..26137367,5	K562	blood:

No data

Variant related genes	Relation type
ENSG00000122566	Chromatin interaction
ENSG00000122565	Chromatin interaction
ENSG00000050344	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:18 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1016813	chr7:25405859-26150509	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
2	nsv538803	chr7:25405859-26150509	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	108 gene(s)	inside rSNPs	diseases
3	nsv606432	chr7:25988185-26223294	Enhancers Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	102 gene(s)	inside rSNPs	diseases
4	nsv1019804	chr7:26057723-26214280	Enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1024345	chr7:26063806-26132278	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
6	nsv887849	chr7:26075094-26234302	Enhancers Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
7	nsv1031125	chr7:26090236-26145401	Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
8	nsv1024779	chr7:26111703-26162200	Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
9	nsv1028727	chr7:26111703-26193309	Enhancers Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
10	nsv1023899	chr7:26113797-26165986	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
11	nsv1021308	chr7:26116605-26419720	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	166 gene(s)	inside rSNPs	diseases
12	nsv508449	chr7:26117275-26161137	Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
13	nsv5671	chr7:26118646-26155496	Weak transcription Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
14	esv1838837	chr7:26127564-26145123	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	esv1839667	chr7:26127564-26145123	Enhancers Weak transcription Active TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv606435	chr7:26127564-26190193	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
17	nsv606436	chr7:26128758-26142329	Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
18	esv1796358	chr7:26130504-26154110	Weak transcription Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Strong transcription	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:62 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:26119200-26141000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr7:26126000-26135800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
3	chr7:26127000-26136600	Weak transcription	Fetal Thymus	thymus
4	chr7:26128000-26132400	Weak transcription	HepG2	liver
5	chr7:26128400-26131600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
6	chr7:26128600-26130800	Weak transcription	HMEC	breast
7	chr7:26128600-26130800	Weak transcription	NHEK	skin
8	chr7:26129000-26131400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
9	chr7:26129000-26136400	Weak transcription	Placenta	Placenta
10	chr7:26129800-26136400	Weak transcription	GM12878-XiMat	blood
11	chr7:26130200-26131000	Enhancers	HUES48 Cell Line	embryonic stem cell
12	chr7:26130200-26131000	Enhancers	Primary monocytes fromperipheralblood	blood
13	chr7:26130200-26131000	Enhancers	Primary B cells from peripheral blood	blood
14	chr7:26130200-26131000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr7:26130200-26131200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
16	chr7:26130200-26131800	Enhancers	Primary hematopoietic stem cells short term culture	blood
17	chr7:26130400-26130800	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
18	chr7:26130400-26130800	Enhancers	ES-WA7 Cell Line	embryonic stem cell
19	chr7:26130400-26130800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
20	chr7:26130400-26130800	Flanking Active TSS	HUES64 Cell Line	embryonic stem cell
21	chr7:26130400-26130800	Flanking Active TSS	iPS-18 Cell Line	embryonic stem cell
22	chr7:26130400-26130800	Flanking Active TSS	iPS-20b Cell Line	embryonic stem cell
23	chr7:26130400-26130800	Flanking Active TSS	Primary hematopoietic stem cells	blood
24	chr7:26130400-26130800	Enhancers	Fetal Lung	lung
25	chr7:26130400-26130800	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
26	chr7:26130400-26130800	Active TSS	Skeletal Muscle Male	skeletal muscle
27	chr7:26130400-26130800	Flanking Active TSS	NH-A	brain
28	chr7:26130400-26131000	Flanking Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
29	chr7:26130400-26131000	Enhancers	Primary B cells from cord blood	blood
30	chr7:26130400-26131000	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
31	chr7:26130400-26131000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
32	chr7:26130400-26131000	Active TSS	Brain Cingulate Gyrus	brain
33	chr7:26130400-26131000	Enhancers	HUVEC	blood vessel
34	chr7:26130400-26131200	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr7:26130400-26131200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
36	chr7:26130400-26131600	Enhancers	iPS-15b Cell Line	embryonic stem cell
37	chr7:26130400-26132000	Enhancers	Primary T cells from cord blood	blood
38	chr7:26130400-26132000	Enhancers	Primary T helper naive cells from peripheral blood	blood
39	chr7:26130400-26132200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:26130400-26132600	Enhancers	Primary T helper cells PMA-I stimulated	--
41	chr7:26130600-26130800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr7:26130600-26130800	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
43	chr7:26130600-26130800	Active TSS	Adipose Nuclei	Adipose
44	chr7:26130600-26130800	Enhancers	Liver	Liver
45	chr7:26130600-26130800	Active TSS	Brain Hippocampus Middle	brain
46	chr7:26130600-26130800	Enhancers	Fetal Intestine Small	intestine
47	chr7:26130600-26130800	Enhancers	Fetal Kidney	kidney
48	chr7:26130600-26130800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
49	chr7:26130600-26130800	Flanking Active TSS	Osteobl	bone
50	chr7:26130600-26131000	Enhancers	Primary T killer memory cells from peripheral blood	blood

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