Variant report

Variant	rs74097894
Chromosome Location	chr12:66522530-66522531
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr12:66522380-66522530	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:66521057..66526734-chr12:66560807..66565257,7	K562	blood:

Variant related genes	Relation type
ENSG00000239335	TF binding region
ENSG00000155957	Chromatin interaction

Extended variants
information (count: 19 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11465963	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56914246	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59800391	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097882	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097884	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097886	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097887	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097893	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097896	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097897	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74097899	1.00[AMR][1000 genomes]
rs74097900	1.00[AMR][1000 genomes]
rs74097901	1.00[AMR][1000 genomes]
rs74097902	1.00[AMR][1000 genomes]
rs74100103	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

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	nsv1052503	chr12:66293898-67269495	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
2	nsv541515	chr12:66293898-67269495	Strong transcription Enhancers Active TSS Genic enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	51 gene(s)	inside rSNPs	diseases
3	nsv1049537	chr12:66403269-66606174	Strong transcription Genic enhancers Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv899214	chr12:66516692-66556960	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:66509000-66523800	Weak transcription	Pancreas	Pancrea
2	chr12:66509200-66523600	Weak transcription	Gastric	stomach
3	chr12:66513600-66522600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr12:66513600-66522600	Strong transcription	Duodenum Smooth Muscle	Duodenum
5	chr12:66513600-66523400	Weak transcription	Small Intestine	intestine
6	chr12:66513600-66523800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr12:66513800-66522600	Strong transcription	Adipose Nuclei	Adipose
8	chr12:66514000-66522600	Strong transcription	HUES64 Cell Line	embryonic stem cell
9	chr12:66514000-66522600	Strong transcription	Fetal Muscle Leg	muscle
10	chr12:66514200-66522600	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr12:66514200-66522600	Strong transcription	NHDF-Ad	bronchial
12	chr12:66514200-66523200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr12:66514400-66523800	Weak transcription	Spleen	Spleen
14	chr12:66514600-66522600	Strong transcription	Primary neutrophils fromperipheralblood	blood
15	chr12:66514600-66522600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr12:66514600-66522600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr12:66514600-66522600	Strong transcription	Fetal Lung	lung
18	chr12:66514600-66522600	Strong transcription	Rectal Mucosa Donor 29	rectum
19	chr12:66514600-66522800	Strong transcription	Sigmoid Colon	Sigmoid Colon
20	chr12:66514800-66522600	Strong transcription	Fetal Intestine Large	intestine
21	chr12:66515400-66522600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr12:66515400-66522600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
23	chr12:66515400-66522600	Strong transcription	Duodenum Mucosa	Duodenum
24	chr12:66515600-66523000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:66515600-66523600	Weak transcription	Lung	lung
26	chr12:66515800-66522600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr12:66515800-66522600	Strong transcription	HUES48 Cell Line	embryonic stem cell
28	chr12:66515800-66522600	Strong transcription	Primary B cells from peripheral blood	blood
29	chr12:66515800-66522600	Strong transcription	Osteobl	bone
30	chr12:66516000-66522600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr12:66516000-66522600	Strong transcription	HUES6 Cell Line	embryonic stem cell
32	chr12:66516000-66522600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
33	chr12:66516000-66524000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr12:66516200-66522600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
35	chr12:66516200-66522600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr12:66516200-66522600	Strong transcription	Placenta	Placenta
37	chr12:66516600-66523800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
38	chr12:66516800-66523600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
39	chr12:66516800-66523600	Weak transcription	Pancreatic Islets	Pancreatic Islet
40	chr12:66517200-66523400	Weak transcription	Stomach Mucosa	stomach
41	chr12:66517400-66522600	Strong transcription	Cortex derived primary cultured neurospheres	brain
42	chr12:66518200-66522600	Strong transcription	Thymus	Thymus
43	chr12:66518400-66522600	Strong transcription	ES-I3 Cell Line	embryonic stem cell
44	chr12:66518400-66523600	Weak transcription	Right Atrium	heart
45	chr12:66518600-66523400	Weak transcription	Skeletal Muscle Male	skeletal muscle
46	chr12:66518800-66522600	Strong transcription	Left Ventricle	heart
47	chr12:66518800-66523600	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr12:66518800-66523600	Weak transcription	Psoas Muscle	Psoas
49	chr12:66518800-66523600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr12:66519000-66523400	Weak transcription	Brain Cingulate Gyrus	brain

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