Variant report

Variant	rs12534852
Chromosome Location	chr7:21468640-21468641
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:20258666..20260899-chr7:21466690..21469388,3	K562	blood:
2	chr7:21451685..21453861-chr7:21467858..21469629,3	K562	blood:
3	chr7:20258763..20260899-chr7:21466690..21469118,2	K562	blood:
4	chr7:21455977..21463086-chr7:21463443..21469885,12	K562	blood:

Variant related genes	Relation type
ENSG00000266862	Chromatin interaction
ENSG00000233834	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs12537609	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs39295	1.00[YRI][hapmap]
rs39298	0.86[CHB][hapmap]
rs39301	0.87[ASN][1000 genomes]
rs40245	0.80[CEU][hapmap];0.83[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs7781732	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027302	chr7:21391598-21727016	Flanking Active TSS Enhancers Weak transcription Active TSS ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv538800	chr7:21391598-21727016	Enhancers Genic enhancers Flanking Bivalent TSS/Enh Weak transcription ZNF genes & repeats Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	esv3347354	chr7:21466827-21469125	Enhancers Active TSS Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
4	nsv1028434	chr7:21468437-21636671	ZNF genes & repeats Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:21466000-21468800	Active TSS	ES-I3 Cell Line	embryonic stem cell
2	chr7:21466000-21468800	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:21466200-21468800	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
4	chr7:21466400-21468800	Active TSS	H1 Cell Line	embryonic stem cell
5	chr7:21466400-21468800	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
6	chr7:21466400-21468800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
7	chr7:21466400-21468800	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
8	chr7:21466400-21468800	Active TSS	Brain Angular Gyrus	brain
9	chr7:21466400-21468800	Active TSS	Colon Smooth Muscle	Colon
10	chr7:21466400-21468800	Active TSS	NHDF-Ad	bronchial
11	chr7:21466400-21469000	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr7:21466400-21469000	Active TSS	iPS-20b Cell Line	embryonic stem cell
13	chr7:21466400-21469000	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr7:21466400-21469000	Active TSS	Fetal Kidney	kidney
15	chr7:21466400-21469000	Active TSS	A549	lung
16	chr7:21466400-21469200	Active TSS	HUES64 Cell Line	embryonic stem cell
17	chr7:21466400-21469200	Active TSS	Colonic Mucosa	Colon
18	chr7:21466400-21469400	Active TSS	iPS-15b Cell Line	embryonic stem cell
19	chr7:21466600-21468800	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr7:21466600-21468800	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
21	chr7:21466600-21468800	Active TSS	Breast Myoepithelial Primary Cells	Breast
22	chr7:21466600-21468800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
23	chr7:21466600-21468800	Active TSS	Fetal Thymus	thymus
24	chr7:21466600-21468800	Active TSS	Rectal Mucosa Donor 29	rectum
25	chr7:21466600-21468800	Active TSS	Skeletal Muscle Female	skeletal muscle
26	chr7:21466600-21468800	Active TSS	Thymus	Thymus
27	chr7:21466600-21468800	Active TSS	HMEC	breast
28	chr7:21466600-21468800	Active TSS	K562	blood
29	chr7:21466600-21468800	Active TSS	NHLF	lung
30	chr7:21466600-21469000	Active TSS	Fetal Brain Female	brain
31	chr7:21466600-21469600	Active TSS	Stomach Smooth Muscle	stomach
32	chr7:21468200-21468800	Active TSS	ES-WA7 Cell Line	embryonic stem cell
33	chr7:21468200-21468800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
34	chr7:21468200-21468800	Flanking Active TSS	Primary T killer naive cells fromperipheralblood	blood
35	chr7:21468200-21468800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
36	chr7:21468200-21469000	Flanking Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:21468200-21469000	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
38	chr7:21468200-21469000	Flanking Active TSS	Primary B cells from cord blood	blood
39	chr7:21468200-21469000	Flanking Active TSS	Primary T helper cells fromperipheralblood	blood
40	chr7:21468200-21469000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr7:21468200-21469200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr7:21468200-21469200	Flanking Active TSS	Fetal Brain Male	brain
43	chr7:21468200-21469200	Flanking Active TSS	Dnd41	blood
44	chr7:21468400-21468800	Flanking Active TSS	HUES48 Cell Line	embryonic stem cell
45	chr7:21468400-21468800	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
46	chr7:21468400-21468800	Flanking Active TSS	Primary T cells from cord blood	blood
47	chr7:21468400-21468800	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
48	chr7:21468400-21468800	Flanking Active TSS	Primary T helper memory cells from peripheral blood 1	blood
49	chr7:21468400-21468800	Flanking Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
50	chr7:21468400-21468800	Flanking Active TSS	Muscle Satellite Cultured Cells	--

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