Variant report

Variant	rs1728653
Chromosome Location	chr7:105191335-105191336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:105178950..105184769-chr7:105189536..105192769,5	K562	blood:

Variant related genes	Relation type
ENSG00000135249	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs1355614	0.93[AFR][1000 genomes]
rs1706902	0.84[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1706908	0.86[AFR][1000 genomes]
rs1721498	0.93[AFR][1000 genomes]
rs1728645	0.97[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1728654	0.81[AFR][1000 genomes];0.89[ASN][1000 genomes]
rs1728655	0.83[AFR][1000 genomes]
rs2392749	0.93[AFR][1000 genomes]
rs68153235	0.89[AFR][1000 genomes]
rs711430	0.86[AFR][1000 genomes]
rs7384092	0.87[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs818619	0.86[AFR][1000 genomes]
rs818620	0.90[AFR][1000 genomes]
rs818621	0.90[AFR][1000 genomes]
rs818628	0.96[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2757233	chr7:104758250-105208492	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats 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	39 gene(s)	inside rSNPs	diseases
2	esv2759549	chr7:104758250-105208492	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	nsv888933	chr7:105012975-105193051	Strong transcription Active TSS Weak transcription Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases
4	nsv464668	chr7:105088693-105208492	Strong transcription Weak transcription Flanking Active TSS Active TSS Enhancers Genic enhancers 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	30 gene(s)	inside rSNPs	diseases
5	nsv608069	chr7:105088693-105208492	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
6	nsv888935	chr7:105110990-105193051	Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
7	nsv888936	chr7:105119308-105193051	Active TSS Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105173400-105208200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:105173400-105210200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr7:105174000-105204200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
4	chr7:105174000-105210200	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
5	chr7:105174000-105212200	Weak transcription	Fetal Heart	heart
6	chr7:105174200-105210200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr7:105174200-105213800	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr7:105174600-105193400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
9	chr7:105174600-105210400	Weak transcription	Psoas Muscle	Psoas
10	chr7:105174600-105213200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
11	chr7:105174800-105193800	Strong transcription	K562	blood
12	chr7:105174800-105209200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
13	chr7:105175000-105193000	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
14	chr7:105175000-105210400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr7:105175200-105194000	Strong transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:105175400-105193000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
17	chr7:105175400-105193800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
18	chr7:105175400-105201200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr7:105175400-105211000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr7:105175600-105196800	Strong transcription	Fetal Stomach	stomach
21	chr7:105175600-105209600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
22	chr7:105175800-105197800	Strong transcription	Fetal Thymus	thymus
23	chr7:105176000-105192400	Strong transcription	Cortex derived primary cultured neurospheres	brain
24	chr7:105176000-105193000	Strong transcription	Fetal Muscle Leg	muscle
25	chr7:105176000-105196800	Strong transcription	Fetal Intestine Small	intestine
26	chr7:105176000-105197400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr7:105176000-105208600	Strong transcription	Placenta	Placenta
28	chr7:105176000-105210000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr7:105176000-105210200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:105176000-105210400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr7:105176000-105210400	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr7:105176200-105199800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
33	chr7:105176200-105210400	Strong transcription	Primary monocytes fromperipheralblood	blood
34	chr7:105176200-105210400	Strong transcription	Monocytes-CD14+_RO01746	blood
35	chr7:105176400-105209200	Strong transcription	Primary T helper cells PMA-I stimulated	--
36	chr7:105176600-105194000	Strong transcription	HUES64 Cell Line	embryonic stem cell
37	chr7:105176600-105196800	Strong transcription	Thymus	Thymus
38	chr7:105176600-105210200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
39	chr7:105176800-105193000	Strong transcription	Primary neutrophils fromperipheralblood	blood
40	chr7:105176800-105193200	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr7:105176800-105198200	Strong transcription	Stomach Smooth Muscle	stomach
42	chr7:105176800-105210400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr7:105177000-105193200	Strong transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:105177000-105209200	Strong transcription	HUES6 Cell Line	embryonic stem cell
45	chr7:105177000-105210200	Strong transcription	Liver	Liver
46	chr7:105177200-105209400	Strong transcription	Breast Myoepithelial Primary Cells	Breast
47	chr7:105177400-105193400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr7:105177400-105197800	Strong transcription	Duodenum Mucosa	Duodenum
49	chr7:105177800-105193200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
50	chr7:105177800-105193200	Strong transcription	Duodenum Smooth Muscle	Duodenum

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