Variant report

Variant	rs7310654
Chromosome Location	chr12:123456633-123456634
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:123379576..123381304-chr12:123456345..123457944,2	K562	blood:

Variant related genes	Relation type
ENSG00000139722	Chromatin interaction

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:1)

rs_ID	r²[population]
rs12229119	0.87[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:11 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3388790	chr12:123275902-123655103	Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
2	nsv899572	chr12:123292503-123477311	Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv899573	chr12:123312051-123528405	Enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	nsv517200	chr12:123312051-123654498	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
5	nsv899576	chr12:123335527-123528405	Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
6	nsv832532	chr12:123395927-123573137	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv832533	chr12:123395927-123589290	Enhancers Genic enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
8	nsv427924	chr12:123412172-123722059	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	78 gene(s)	inside rSNPs	diseases
9	nsv455732	chr12:123427573-123574838	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
10	nsv560492	chr12:123427573-123574838	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
11	nsv899577	chr12:123435248-123484474	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 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	chr12:123451000-123458600	Weak transcription	Colon Smooth Muscle	Colon
2	chr12:123451400-123457600	Weak transcription	Dnd41	blood
3	chr12:123451400-123458200	Weak transcription	Monocytes-CD14+_RO01746	blood
4	chr12:123451400-123458400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr12:123451400-123458400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
6	chr12:123451400-123458400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
7	chr12:123451400-123458400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
8	chr12:123451400-123458400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
9	chr12:123451400-123458400	Weak transcription	Brain Anterior Caudate	brain
10	chr12:123451400-123458400	Weak transcription	Brain Cingulate Gyrus	brain
11	chr12:123451400-123458400	Weak transcription	Brain Germinal Matrix	brain
12	chr12:123451400-123458400	Weak transcription	Fetal Muscle Leg	muscle
13	chr12:123451400-123458600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
14	chr12:123451400-123458600	Weak transcription	Right Atrium	heart
15	chr12:123451400-123458600	Weak transcription	Thymus	Thymus
16	chr12:123451600-123457600	Weak transcription	Liver	Liver
17	chr12:123451600-123458200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr12:123451600-123458400	Weak transcription	Primary T helper cells fromperipheralblood	blood
19	chr12:123451600-123458400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
20	chr12:123451600-123458400	Weak transcription	Adipose Nuclei	Adipose
21	chr12:123451600-123458400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
22	chr12:123451600-123458400	Weak transcription	Duodenum Mucosa	Duodenum
23	chr12:123451600-123458600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr12:123451600-123458600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
25	chr12:123451600-123458600	Weak transcription	Pancreatic Islets	Pancreatic Islet
26	chr12:123451600-123458600	Weak transcription	Stomach Smooth Muscle	stomach
27	chr12:123451600-123458800	Weak transcription	Sigmoid Colon	Sigmoid Colon
28	chr12:123451800-123457600	Weak transcription	Primary T cells fromperipheralblood	blood
29	chr12:123451800-123457600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr12:123451800-123458400	Weak transcription	A549	lung
31	chr12:123451800-123458400	Weak transcription	K562	blood
32	chr12:123451800-123458600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
33	chr12:123451800-123458600	Weak transcription	Stomach Mucosa	stomach
34	chr12:123452000-123458400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr12:123452000-123458400	Weak transcription	Brain Angular Gyrus	brain
36	chr12:123452400-123458400	Weak transcription	Rectal Mucosa Donor 29	rectum
37	chr12:123453200-123458200	Weak transcription	HepG2	liver
38	chr12:123453800-123458400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr12:123453800-123458600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
40	chr12:123453800-123458600	Weak transcription	NHEK	skin
41	chr12:123454400-123458200	Weak transcription	Placenta	Placenta
42	chr12:123454400-123458400	Weak transcription	Brain Hippocampus Middle	brain
43	chr12:123454600-123457400	Weak transcription	Fetal Intestine Large	intestine
44	chr12:123454600-123458400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
45	chr12:123454600-123458400	Weak transcription	Brain Substantia Nigra	brain
46	chr12:123454600-123458600	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr12:123454600-123458600	Weak transcription	Brain Inferior Temporal Lobe	brain
48	chr12:123454600-123458600	Weak transcription	Fetal Lung	lung
49	chr12:123454600-123458600	Weak transcription	Rectal Mucosa Donor 31	rectum
50	chr12:123454600-123458800	Weak transcription	Fetal Heart	heart

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