Variant report

Variant	rs544640678
Chromosome Location	chr7:6523282-6523283
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	chr7:6522385..6525546-chr7:6675389..6679461,5	MCF-7	breast:
2	chr7:6485398..6489202-chr7:6520855..6525273,5	MCF-7	breast:
3	chr1:153507926..153508844-chr7:6523134..6524128,2	Hela-S3	cervix:
4	chr7:6522590..6525464-chr7:6629667..6631342,2	K562	blood:
5	chr7:6521681..6526038-chr7:6526623..6531331,7	K562	blood:
6	chr7:6509730..6517655-chr7:6520090..6524473,18	K562	blood:
7	chr6:27857335..27860257-chr7:6521676..6523586,2	MCF-7	breast:
8	chr7:6523102..6525727-chr7:6628447..6631086,2	MCF-7	breast:
9	chr7:6486201..6489628-chr7:6522463..6525039,4	MCF-7	breast:
10	chr7:6521171..6524635-chr7:6615181..6617344,3	K562	blood:
11	chr7:6142905..6144683-chr7:6522279..6524664,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000231359	Chromatin interaction
ENSG00000232581	Chromatin interaction
ENSG00000146576	Chromatin interaction
ENSG00000136240	Chromatin interaction
ENSG00000197956	Chromatin interaction
ENSG00000197153	Chromatin interaction
ENSG00000106346	Chromatin interaction
ENSG00000136247	Chromatin interaction
ENSG00000164535	Chromatin interaction
ENSG00000205903	Chromatin interaction

Extended variants
information (count: 15 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
11	nsv1026878	chr7:6490387-6592374	Flanking Active TSS Genic enhancers Bivalent Enhancer Weak transcription Enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	13 gene(s)	inside rSNPs	diseases
12	nsv830895	chr7:6514781-6722092	Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
13	nsv887429	chr7:6520676-6659509	Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Enhancers Weak transcription Strong transcription 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	28 gene(s)	inside rSNPs	diseases
14	nsv887430	chr7:6520676-6668027	Bivalent Enhancer Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases
15	esv3420137	chr7:6522252-6524800	Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6520800-6524600	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
2	chr7:6521400-6524000	Active TSS	Breast Myoepithelial Primary Cells	Breast
3	chr7:6521400-6524200	Active TSS	Pancreatic Islets	Pancreatic Islet
4	chr7:6521400-6524200	Active TSS	Pancreas	Pancrea
5	chr7:6521600-6524600	Active TSS	HUES6 Cell Line	embryonic stem cell
6	chr7:6521800-6524400	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr7:6522000-6523800	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr7:6522000-6524000	Active TSS	Fetal Intestine Large	intestine
9	chr7:6522000-6524200	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:6522000-6524400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
11	chr7:6522000-6524400	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
12	chr7:6522000-6524400	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
13	chr7:6522000-6524400	Active TSS	Right Atrium	heart
14	chr7:6522200-6523600	Flanking Active TSS	Primary B cells from cord blood	blood
15	chr7:6522200-6524000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr7:6522200-6524000	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr7:6522200-6524000	Active TSS	Placenta Amnion	Placenta Amnion
18	chr7:6522200-6524200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr7:6522200-6524200	Active TSS	Right Ventricle	heart
20	chr7:6522200-6524200	Active TSS	Small Intestine	intestine
21	chr7:6522200-6524200	Active TSS	HSMMtube	muscle
22	chr7:6522200-6524200	Active TSS	NHDF-Ad	bronchial
23	chr7:6522200-6524400	Active TSS	HUES64 Cell Line	embryonic stem cell
24	chr7:6522200-6524400	Active TSS	iPS-15b Cell Line	embryonic stem cell
25	chr7:6522200-6524400	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr7:6522200-6524400	Active TSS	NHLF	lung
27	chr7:6522200-6524600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
28	chr7:6522400-6523400	Bivalent/Poised TSS	HepG2	liver
29	chr7:6522400-6523800	Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr7:6522400-6523800	Active TSS	Fetal Intestine Small	intestine
31	chr7:6522400-6523800	Active TSS	Gastric	stomach
32	chr7:6522400-6523800	Active TSS	Lung	lung
33	chr7:6522400-6524000	Active TSS	Fetal Lung	lung
34	chr7:6522400-6524000	Active TSS	HMEC	breast
35	chr7:6522400-6524000	Active TSS	HSMM	muscle
36	chr7:6522400-6524000	Active TSS	NHEK	skin
37	chr7:6522400-6524000	Active TSS	Osteobl	bone
38	chr7:6522400-6524200	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr7:6522400-6524200	Active TSS	H1 Cell Line	embryonic stem cell
40	chr7:6522400-6524200	Active TSS	Psoas Muscle	Psoas
41	chr7:6522400-6524200	Active TSS	NH-A	brain
42	chr7:6522400-6524400	Active TSS	HUES48 Cell Line	embryonic stem cell
43	chr7:6522400-6524400	Active TSS	Fetal Brain Female	brain
44	chr7:6522400-6524400	Active TSS	Fetal Kidney	kidney
45	chr7:6522400-6524600	Active TSS	iPS-18 Cell Line	embryonic stem cell
46	chr7:6522400-6524600	Active TSS	GM12878-XiMat	blood
47	chr7:6522600-6523400	Transcr. at gene 5' and 3'	Primary T helper 17 cells PMA-I stimulated	--
48	chr7:6522600-6523400	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
49	chr7:6522600-6523800	Active TSS	Aorta	Aorta
50	chr7:6522600-6523800	Active TSS	Esophagus	oesophagus

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