Variant report

Variant	rs111954136
Chromosome Location	chr7:16795283-16795284
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: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	chr7:16794917..16796909-chr7:16801074..16804000,3	K562	blood:
2	chr7:16792720..16796708-chr7:16843218..16846000,6	MCF-7	breast:
3	chr7:16793269..16796429-chr7:16820580..16823340,4	MCF-7	breast:
4	chr7:16793915..16797924-chr7:16812688..16815916,4	K562	blood:
5	chr7:16735197..16737056-chr7:16793469..16795532,2	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	chr7:16776351..16778265-chr7:16793377..16796196,2	K562	blood:
9	chr7:16794921..16798267-chr7:16802631..16805801,3	MCF-7	breast:
10	chr7:16781689..16783887-chr7:16794531..16797330,3	K562	blood:
11	chr7:16793190..16795518-chr7:16923523..16926249,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000106537	Chromatin interaction
ENSG00000106541	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:13 , 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	nsv520554	chr7:16795114-16795564	Active TSS Weak transcription Enhancers Bivalent Enhancer Flanking Active TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases
9	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
10	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
11	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
12	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
13	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:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:16792800-16795400	Active TSS	Right Atrium	heart
2	chr7:16792800-16795600	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:16792800-16796200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
4	chr7:16792800-16796400	Active TSS	Fetal Intestine Small	intestine
5	chr7:16792800-16796600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr7:16792800-16796600	Active TSS	Fetal Brain Female	brain
7	chr7:16793000-16795400	Active TSS	Right Ventricle	heart
8	chr7:16793000-16795600	Active TSS	Fetal Intestine Large	intestine
9	chr7:16793000-16796000	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr7:16793000-16796800	Flanking Active TSS	Primary B cells from cord blood	blood
11	chr7:16794400-16796400	Active TSS	Brain Inferior Temporal Lobe	brain
12	chr7:16794600-16795800	Weak transcription	NHDF-Ad	bronchial
13	chr7:16794600-16796200	Active TSS	Brain Cingulate Gyrus	brain
14	chr7:16794600-16796200	Active TSS	Rectal Mucosa Donor 29	rectum
15	chr7:16794800-16796000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr7:16794800-16796200	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr7:16794800-16796400	Enhancers	Osteobl	bone
18	chr7:16794800-16798800	Weak transcription	Gastric	stomach
19	chr7:16795000-16795400	Active TSS	iPS-20b Cell Line	embryonic stem cell
20	chr7:16795000-16795800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr7:16795000-16795800	Weak transcription	Pancreas	Pancrea
22	chr7:16795000-16796000	Weak transcription	H9 Cell Line	embryonic stem cell
23	chr7:16795000-16796000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr7:16795000-16796000	Enhancers	Breast Myoepithelial Primary Cells	Breast
25	chr7:16795000-16796000	Weak transcription	Fetal Kidney	kidney
26	chr7:16795000-16796000	Weak transcription	Left Ventricle	heart
27	chr7:16795000-16796000	Weak transcription	Stomach Mucosa	stomach
28	chr7:16795000-16796600	Active TSS	Adipose Nuclei	Adipose
29	chr7:16795000-16796600	Enhancers	Placenta Amnion	Placenta Amnion
30	chr7:16795000-16798800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr7:16795000-16799000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr7:16795000-16799400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
33	chr7:16795000-16799400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:16795000-16799600	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr7:16795000-16800200	Weak transcription	Fetal Lung	lung
36	chr7:16795000-16804200	Weak transcription	HUVEC	blood vessel
37	chr7:16795000-16806000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
38	chr7:16795000-16810200	Weak transcription	HMEC	breast
39	chr7:16795000-16810400	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
40	chr7:16795000-16828400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
41	chr7:16795200-16795400	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr7:16795200-16795400	Enhancers	Fetal Brain Male	brain
43	chr7:16795200-16795400	Active TSS	NH-A	brain
44	chr7:16795200-16795600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
45	chr7:16795200-16795600	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr7:16795200-16795600	Enhancers	Primary B cells from peripheral blood	blood
47	chr7:16795200-16795600	Active TSS	K562	blood
48	chr7:16795200-16795800	Active TSS	Rectal Mucosa Donor 31	rectum
49	chr7:16795200-16796000	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr7:16795200-16796000	Weak transcription	HUES48 Cell Line	embryonic stem cell

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