Variant report

Variant	rs28490962
Chromosome Location	chr7:104641732-104641733
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:104640833..104643034-chr7:104805707..104808413,2	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-SRPK2-1	chr7:104641588-104642450	NONHSAT122593
2	lnc-SRPK2-1	chr7:104637584-104654636	NONHSAT122594

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs12112458	1.00[AMR][1000 genomes]
rs6959750	1.00[AMR][1000 genomes]
rs9969240	1.00[AMR][1000 genomes]
rs9969263	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029283	chr7:104571741-104729168	Strong transcription Flanking Active TSS Enhancers Weak transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	132 gene(s)	inside rSNPs	diseases
2	nsv888927	chr7:104614664-104781644	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
3	esv2829879	chr7:104618318-104652671	Transcr. at gene 5' and 3' Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
4	nsv608068	chr7:104622402-104757483	Weak transcription Enhancers Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	132 gene(s)	inside rSNPs	diseases
5	nsv437561	chr7:104626690-104647571	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv1022083	chr7:104634376-104644391	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:104625000-104647400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr7:104625200-104643800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:104625400-104643000	Weak transcription	Fetal Brain Female	brain
4	chr7:104627400-104643600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:104630800-104643600	Weak transcription	Fetal Kidney	kidney
6	chr7:104631600-104643600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr7:104633000-104642600	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
8	chr7:104633200-104643600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
9	chr7:104633600-104650400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
10	chr7:104634000-104647200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:104634400-104642800	Enhancers	Skeletal Muscle Female	skeletal muscle
12	chr7:104634400-104642800	Weak transcription	HSMMtube	muscle
13	chr7:104634800-104641800	Weak transcription	HUES64 Cell Line	embryonic stem cell
14	chr7:104635200-104642800	Weak transcription	NH-A	brain
15	chr7:104635400-104641800	Weak transcription	HUES48 Cell Line	embryonic stem cell
16	chr7:104635400-104642200	Weak transcription	Brain Substantia Nigra	brain
17	chr7:104635400-104643200	Weak transcription	HUVEC	blood vessel
18	chr7:104635600-104645600	Enhancers	Primary T killer memory cells from peripheral blood	blood
19	chr7:104635800-104643400	Weak transcription	Primary hematopoietic stem cells	blood
20	chr7:104636400-104645400	Enhancers	Fetal Heart	heart
21	chr7:104636400-104649400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
22	chr7:104636600-104641800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
23	chr7:104637000-104643400	Weak transcription	HepG2	liver
24	chr7:104637200-104641800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:104637200-104643400	Weak transcription	Fetal Lung	lung
26	chr7:104638200-104646800	Enhancers	Stomach Mucosa	stomach
27	chr7:104638400-104643800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr7:104638400-104645800	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
29	chr7:104638600-104643800	Enhancers	Primary T helper naive cells from peripheral blood	blood
30	chr7:104639200-104642200	Genic enhancers	A549	lung
31	chr7:104639400-104642600	Enhancers	Psoas Muscle	Psoas
32	chr7:104639400-104643400	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr7:104639400-104643600	Enhancers	Adipose Nuclei	Adipose
34	chr7:104639400-104649800	Genic enhancers	Fetal Intestine Small	intestine
35	chr7:104639600-104642600	Genic enhancers	Fetal Intestine Large	intestine
36	chr7:104639800-104641800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr7:104639800-104648800	Enhancers	Colon Smooth Muscle	Colon
38	chr7:104640000-104642000	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr7:104640000-104642600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr7:104640000-104643400	Enhancers	Duodenum Smooth Muscle	Duodenum
41	chr7:104640000-104643800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
42	chr7:104640000-104646200	Enhancers	Liver	Liver
43	chr7:104640200-104642400	Genic enhancers	Primary B cells from peripheral blood	blood
44	chr7:104640200-104645600	Enhancers	Brain Angular Gyrus	brain
45	chr7:104640200-104648600	Genic enhancers	Dnd41	blood
46	chr7:104640400-104642200	Genic enhancers	NHDF-Ad	bronchial
47	chr7:104640400-104642800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
48	chr7:104640400-104642800	Weak transcription	Osteobl	bone
49	chr7:104640400-104643000	Genic enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
50	chr7:104640400-104643800	Weak transcription	Primary monocytes fromperipheralblood	blood

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