Variant report

Variant	rs568249327
Chromosome Location	chr7:6145643-6145644
allele	A/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:18)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:18 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:6046967..6050535-chr7:6141219..6149580,10	K562	blood:
2	chr7:6064661..6068184-chr7:6142795..6145849,5	MCF-7	breast:
3	chr7:6096872..6099965-chr7:6142845..6147736,5	MCF-7	breast:
4	chr7:6118710..6122632-chr7:6142742..6146844,10	K562	blood:
5	chr7:6145257..6148014-chr7:6162760..6164511,2	K562	blood:
6	chr7:6144993..6146575-chr7:6155330..6157057,2	K562	blood:
7	chr7:6047404..6049912-chr7:6142714..6146343,4	MCF-7	breast:
8	chr7:6047026..6051403-chr7:6141746..6146462,7	K562	blood:
9	chr7:6141805..6147526-chr7:6152442..6159269,12	MCF-7	breast:
10	chr7:6119521..6122293-chr7:6142698..6146719,8	K562	blood:
11	chr7:6055317..6057272-chr7:6144133..6145966,2	K562	blood:
12	chr7:6143900..6146202-chr7:6155214..6157141,2	MCF-7	breast:
13	chr7:6096763..6100631-chr7:6141376..6146373,15	MCF-7	breast:
14	chr7:6145063..6147709-chr7:6164403..6167299,2	MCF-7	breast:
15	chr7:6094497..6101614-chr7:6140891..6145784,14	K562	blood:
16	chr7:6118878..6122850-chr7:6140823..6146720,14	MCF-7	breast:
17	chr7:6054308..6057610-chr7:6144384..6145966,3	K562	blood:
18	chr7:6094946..6099638-chr7:6140891..6146239,12	K562	blood:

No data

Variant related genes	Relation type
ENSG00000207217	Chromatin interaction
ENSG00000264605	Chromatin interaction
ENSG00000106305	Chromatin interaction
ENSG00000122512	Chromatin interaction
ENSG00000086232	Chromatin interaction
ENSG00000252929	Chromatin interaction
ENSG00000231704	Chromatin interaction
ENSG00000106346	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	nsv533108	chr7:5488018-6316581	Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	390 gene(s)	inside rSNPs	diseases
2	nsv1033556	chr7:5565080-6186815	Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
3	nsv538710	chr7:5565080-6186815	Bivalent Enhancer Flanking Active TSS Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	357 gene(s)	inside rSNPs	diseases
4	nsv1021989	chr7:5629728-6186815	Strong transcription Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	126 gene(s)	inside rSNPs	diseases
5	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
6	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
7	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
8	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
9	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
10	nsv1034916	chr7:5934780-6158970	Active TSS Genic enhancers Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
11	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
12	nsv1021037	chr7:6070792-6426966	Strong transcription Enhancers Flanking Active TSS Active TSS Weak transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
13	nsv538713	chr7:6070792-6426966	Weak transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
14	nsv5628	chr7:6105462-6147148	Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
15	esv3419592	chr7:6142526-6147024	Weak transcription Flanking Active TSS Active TSS Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
16	esv3421072	chr7:6143276-6146174	Active TSS Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
17	esv3332999	chr7:6143776-6146174	Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	26 gene(s)	inside rSNPs	diseases
18	esv3338953	chr7:6144176-6145774	Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Weak transcription Enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	26 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	chr7:6143200-6146200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
2	chr7:6143200-6146200	Active TSS	HUES48 Cell Line	embryonic stem cell
3	chr7:6143200-6146200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
4	chr7:6143200-6146400	Active TSS	HUES64 Cell Line	embryonic stem cell
5	chr7:6143400-6145800	Active TSS	H9 Cell Line	embryonic stem cell
6	chr7:6143400-6146000	Active TSS	iPS-20b Cell Line	embryonic stem cell
7	chr7:6143400-6146000	Active TSS	Muscle Satellite Cultured Cells	--
8	chr7:6143400-6146000	Active TSS	Brain Anterior Caudate	brain
9	chr7:6143400-6146000	Active TSS	Rectal Smooth Muscle	rectum
10	chr7:6143400-6146200	Active TSS	H1 Cell Line	embryonic stem cell
11	chr7:6143400-6146400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
12	chr7:6143400-6146400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
13	chr7:6143400-6146400	Active TSS	HSMM	muscle
14	chr7:6143400-6146800	Active TSS	HSMMtube	muscle
15	chr7:6143600-6145800	Active TSS	Sigmoid Colon	Sigmoid Colon
16	chr7:6143600-6146000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
17	chr7:6143600-6146000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr7:6143600-6146200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr7:6143600-6146200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr7:6143600-6146200	Active TSS	Ovary	ovary
21	chr7:6143600-6146200	Active TSS	Right Ventricle	heart
22	chr7:6143600-6146400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr7:6143600-6146400	Active TSS	Aorta	Aorta
24	chr7:6143600-6146600	Active TSS	Psoas Muscle	Psoas
25	chr7:6143600-6146800	Active TSS	Pancreatic Islets	Pancreatic Islet
26	chr7:6143800-6145800	Active TSS	Primary T helper naive cells fromperipheralblood	blood
27	chr7:6143800-6145800	Active TSS	Fetal Stomach	stomach
28	chr7:6143800-6145800	Active TSS	Small Intestine	intestine
29	chr7:6143800-6146000	Active TSS	Primary monocytes fromperipheralblood	blood
30	chr7:6143800-6146000	Active TSS	Primary B cells from peripheral blood	blood
31	chr7:6143800-6146000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr7:6143800-6146000	Active TSS	Liver	Liver
33	chr7:6143800-6146000	Active TSS	Colon Smooth Muscle	Colon
34	chr7:6143800-6146000	Active TSS	Fetal Intestine Large	intestine
35	chr7:6143800-6146000	Active TSS	Rectal Mucosa Donor 29	rectum
36	chr7:6143800-6146000	Active TSS	Rectal Mucosa Donor 31	rectum
37	chr7:6143800-6146000	Active TSS	Skeletal Muscle Male	skeletal muscle
38	chr7:6143800-6146000	Active TSS	Skeletal Muscle Female	skeletal muscle
39	chr7:6143800-6146000	Active TSS	HMEC	breast
40	chr7:6143800-6146200	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr7:6143800-6146200	Active TSS	Breast Myoepithelial Primary Cells	Breast
42	chr7:6143800-6146200	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
43	chr7:6143800-6146200	Active TSS	Primary T killer naive cells fromperipheralblood	blood
44	chr7:6143800-6146200	Active TSS	Colonic Mucosa	Colon
45	chr7:6143800-6146200	Active TSS	Duodenum Mucosa	Duodenum
46	chr7:6143800-6146200	Active TSS	Fetal Adrenal Gland	Adrenal Gland
47	chr7:6143800-6146200	Active TSS	Fetal Intestine Small	intestine
48	chr7:6143800-6146200	Active TSS	Fetal Muscle Trunk	muscle
49	chr7:6143800-6146200	Active TSS	Fetal Muscle Leg	muscle
50	chr7:6143800-6146200	Active TSS	Thymus	Thymus

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