Variant report

Variant	rs192529517
Chromosome Location	chr7:16796492-16796493
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: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	chr7:16794917..16796909-chr7:16801074..16804000,3	K562	blood:
2	chr7:16792720..16796708-chr7:16843218..16846000,6	MCF-7	breast:
3	chr7:16795785..16798056-chr7:16809613..16812120,2	MCF-7	breast:
4	chr7:16793915..16797924-chr7:16812688..16815916,4	K562	blood:
5	chr7:16795433..16797720-chr7:16943125..16945595,2	MCF-7	breast:
6	chr7:16794915..16798218-chr7:16804001..16806170,3	MCF-7	breast:
7	chr7:16794764..16798120-chr7:16805812..16808493,3	MCF-7	breast:
8	chr7:16794921..16798267-chr7:16802631..16805801,3	MCF-7	breast:
9	chr7:16781689..16783887-chr7:16794531..16797330,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000106541	Chromatin interaction
ENSG00000106537	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	nsv1016642	chr7:15884061-16799788	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
2	nsv1028125	chr7:16529160-16847225	Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
3	nsv1024059	chr7:16639432-16836425	Enhancers Flanking Active TSS Weak transcription Bivalent/Poised TSS Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	35 gene(s)	inside rSNPs	diseases
4	nsv824019	chr7:16794489-16800589	Bivalent/Poised TSS Flanking Active TSS Weak transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
5	esv3475740	chr7:16794549-16800628	Flanking Active TSS Enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Weak transcription Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
6	esv3475741	chr7:16794549-16800658	Enhancers Active TSS Bivalent/Poised TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
7	esv3475739	chr7:16794552-16800658	Weak transcription Bivalent Enhancer Enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
8	esv1815282	chr7:16795114-16797440	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	esv1816361	chr7:16795114-16797440	Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
10	esv1819982	chr7:16795114-16797440	Flanking Active TSS Active TSS Enhancers Genic enhancers Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
11	esv1821161	chr7:16795114-16797440	Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
12	esv1821701	chr7:16795114-16797440	Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3'	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16792800-16796600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:16792800-16796600	Active TSS	Fetal Brain Female	brain
3	chr7:16793000-16796800	Flanking Active TSS	Primary B cells from cord blood	blood
4	chr7:16794800-16798800	Weak transcription	Gastric	stomach
5	chr7:16795000-16796600	Active TSS	Adipose Nuclei	Adipose
6	chr7:16795000-16796600	Enhancers	Placenta Amnion	Placenta Amnion
7	chr7:16795000-16798800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr7:16795000-16799000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
9	chr7:16795000-16799400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr7:16795000-16799400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
11	chr7:16795000-16799600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
12	chr7:16795000-16800200	Weak transcription	Fetal Lung	lung
13	chr7:16795000-16804200	Weak transcription	HUVEC	blood vessel
14	chr7:16795000-16806000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
15	chr7:16795000-16810200	Weak transcription	HMEC	breast
16	chr7:16795000-16810400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr7:16795000-16828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr7:16795200-16796600	Enhancers	Duodenum Mucosa	Duodenum
19	chr7:16795200-16796600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
20	chr7:16795200-16796800	Enhancers	Fetal Heart	heart
21	chr7:16795200-16810000	Weak transcription	NHEK	skin
22	chr7:16795200-16810600	Weak transcription	Fetal Muscle Leg	muscle
23	chr7:16795400-16813000	Weak transcription	Right Ventricle	heart
24	chr7:16796000-16796600	Enhancers	HUES48 Cell Line	embryonic stem cell
25	chr7:16796000-16796600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
26	chr7:16796000-16796600	Enhancers	Psoas Muscle	Psoas
27	chr7:16796000-16796600	Enhancers	Rectal Mucosa Donor 31	rectum
28	chr7:16796000-16796600	Transcr. at gene 5' and 3'	K562	blood
29	chr7:16796000-16796800	Enhancers	Stomach Mucosa	stomach
30	chr7:16796000-16797200	Enhancers	Fetal Intestine Large	intestine
31	chr7:16796000-16798800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:16796000-16800400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr7:16796000-16801000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr7:16796200-16796800	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr7:16796200-16797800	Weak transcription	Rectal Mucosa Donor 29	rectum
36	chr7:16796200-16798400	Enhancers	Primary B cells from peripheral blood	blood
37	chr7:16796200-16798800	Weak transcription	Left Ventricle	heart
38	chr7:16796200-16799800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
39	chr7:16796200-16801800	Weak transcription	HUES6 Cell Line	embryonic stem cell
40	chr7:16796200-16804600	Weak transcription	Pancreas	Pancrea
41	chr7:16796200-16806400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr7:16796400-16796600	Enhancers	Brain Anterior Caudate	brain
43	chr7:16796400-16796600	Active TSS	Pancreatic Islets	Pancreatic Islet
44	chr7:16796400-16796800	Enhancers	Fetal Intestine Small	intestine
45	chr7:16796400-16810200	Weak transcription	ES-I3 Cell Line	embryonic stem cell

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