Variant report

Variant	rs569483129
Chromosome Location	chr7:11013807-11013808
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:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:10972604..10974747-chr7:11013678..11015868,2	K562	blood:
2	chr7:11012451..11014446-chr7:11075009..11077346,2	MCF-7	breast:
3	chr7:10975906..10982429-chr7:11007978..11018673,26	K562	blood:
4	chr7:10977305..10982144-chr7:11011875..11016071,10	MCF-7	breast:
5	chr7:11012908..11015544-chr7:11049769..11053521,4	MCF-7	breast:
6	chr7:10978242..10981238-chr7:11011671..11015550,7	MCF-7	breast:
7	chr7:11013556..11016152-chr7:11041534..11043076,2	MCF-7	breast:
8	chr7:11013088..11016193-chr7:11045661..11047742,3	MCF-7	breast:
9	chr7:10978101..10982429-chr7:11011509..11017731,20	K562	blood:

No data

Variant related genes	Relation type
ENSG00000230370	Chromatin interaction
ENSG00000271185	Chromatin interaction
ENSG00000189043	Chromatin interaction
ENSG00000106443	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	nsv1067780	chr7:10649696-11329787	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
2	nsv491695	chr7:10649696-11329787	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv1019888	chr7:10712858-11496785	Weak transcription Enhancers Active TSS Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1029836	chr7:10713523-11492751	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers 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 target site	31 gene(s)	inside rSNPs	diseases
5	nsv538730	chr7:10713523-11492751	Weak transcription Strong transcription Active TSS Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
6	nsv532092	chr7:10731350-11414759	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
7	nsv887600	chr7:10807685-11090546	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	24 gene(s)	inside rSNPs	diseases
8	nsv1024171	chr7:10810444-11559156	Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	nsv949387	chr7:10815994-11281536	Enhancers Flanking Active TSS Strong transcription Weak transcription ZNF genes & repeats Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
10	esv2752140	chr7:10817060-11029748	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
11	nsv1029882	chr7:10872162-11371145	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
12	nsv817291	chr7:10875417-11562683	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
13	nsv1031498	chr7:10882696-11110412	Weak transcription Active TSS Strong transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
14	nsv887601	chr7:10912949-11049523	Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
15	nsv819766	chr7:11013538-11014365	Flanking Active TSS Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Weak transcription	Chromatin interactive region	6 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	chr7:11012200-11014400	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:11012400-11014000	Active TSS	Brain Cingulate Gyrus	brain
3	chr7:11012400-11014200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:11012400-11014200	Active TSS	Rectal Smooth Muscle	rectum
5	chr7:11012400-11014200	Active TSS	Stomach Smooth Muscle	stomach
6	chr7:11012400-11014600	Active TSS	H9 Cell Line	embryonic stem cell
7	chr7:11012400-11014600	Active TSS	HUES64 Cell Line	embryonic stem cell
8	chr7:11012400-11014600	Active TSS	iPS-15b Cell Line	embryonic stem cell
9	chr7:11012400-11014600	Active TSS	iPS-20b Cell Line	embryonic stem cell
10	chr7:11012400-11015000	Active TSS	HepG2	liver
11	chr7:11012400-11015800	Active TSS	HUES48 Cell Line	embryonic stem cell
12	chr7:11012400-11016000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
13	chr7:11012600-11014000	Active TSS	Breast Myoepithelial Primary Cells	Breast
14	chr7:11012600-11014000	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr7:11012600-11014000	Active TSS	Rectal Mucosa Donor 31	rectum
16	chr7:11012600-11014200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
17	chr7:11012600-11014200	Active TSS	Brain Angular Gyrus	brain
18	chr7:11012600-11014200	Active TSS	Brain Inferior Temporal Lobe	brain
19	chr7:11012600-11014200	Active TSS	Brain Substantia Nigra	brain
20	chr7:11012600-11014200	Active TSS	NH-A	brain
21	chr7:11012600-11014400	Active TSS	Duodenum Smooth Muscle	Duodenum
22	chr7:11012600-11014400	Active TSS	Fetal Intestine Large	intestine
23	chr7:11012600-11014400	Active TSS	HMEC	breast
24	chr7:11012600-11014600	Active TSS	Brain Anterior Caudate	brain
25	chr7:11012600-11014600	Active TSS	Fetal Brain Female	brain
26	chr7:11012600-11014600	Active TSS	Pancreatic Islets	Pancreatic Islet
27	chr7:11012600-11015200	Active TSS	H1 Cell Line	embryonic stem cell
28	chr7:11012600-11015600	Active TSS	A549	lung
29	chr7:11012800-11014000	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr7:11012800-11014000	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
31	chr7:11012800-11014000	Active TSS	Duodenum Mucosa	Duodenum
32	chr7:11012800-11014000	Active TSS	Placenta	Placenta
33	chr7:11012800-11014000	Active TSS	Skeletal Muscle Male	skeletal muscle
34	chr7:11012800-11014200	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
35	chr7:11012800-11014200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr7:11012800-11014200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:11012800-11014200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
38	chr7:11012800-11014200	Active TSS	Colon Smooth Muscle	Colon
39	chr7:11012800-11014200	Active TSS	Fetal Muscle Trunk	muscle
40	chr7:11012800-11014200	Active TSS	Left Ventricle	heart
41	chr7:11012800-11014200	Active TSS	Pancreas	Pancrea
42	chr7:11012800-11014200	Active TSS	Right Atrium	heart
43	chr7:11012800-11014200	Active TSS	NHDF-Ad	bronchial
44	chr7:11012800-11014400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr7:11012800-11014400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:11012800-11014400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
47	chr7:11012800-11014400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
48	chr7:11012800-11014400	Active TSS	Esophagus	oesophagus
49	chr7:11012800-11014400	Active TSS	Fetal Stomach	stomach
50	chr7:11012800-11014400	Active TSS	Stomach Mucosa	stomach

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