Variant report

Variant	rs73396438
Chromosome Location	chr12:104687274-104687275
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:104606650..104616346-chr12:104679108..104687347,18	K562	blood:

Variant related genes	Relation type
ENSG00000198431	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs34368560	0.93[AFR][1000 genomes]
rs34472170	0.93[AFR][1000 genomes]
rs34748514	0.93[AFR][1000 genomes]
rs35205057	0.93[AFR][1000 genomes]
rs35276618	0.93[AFR][1000 genomes]
rs35475487	0.93[AFR][1000 genomes]
rs36057993	0.93[AFR][1000 genomes]
rs59922632	0.93[AFR][1000 genomes]
rs60228168	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396440	0.93[AFR][1000 genomes]
rs73396443	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73396445	0.93[AFR][1000 genomes]
rs73396474	0.93[AFR][1000 genomes]
rs73398413	0.93[AFR][1000 genomes]
rs73398415	0.93[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv899493	chr12:104548613-104703228	Flanking Active TSS Active TSS Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
2	nsv899494	chr12:104561521-104806232	Flanking Active TSS Weak transcription Genic enhancers Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
3	nsv1046606	chr12:104606617-104763734	Weak transcription Strong transcription Genic enhancers Flanking Active TSS Enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1038609	chr12:104613847-104764981	Enhancers Active TSS Weak transcription Flanking Active TSS Strong transcription Genic enhancers 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	32 gene(s)	inside rSNPs	diseases
5	nsv541587	chr12:104613847-104764981	Strong transcription Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 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	chr12:104682000-104687400	Transcr. at gene 5' and 3'	A549	lung
2	chr12:104683200-104687400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
3	chr12:104683400-104687800	Transcr. at gene 5' and 3'	Breast Myoepithelial Primary Cells	Breast
4	chr12:104683400-104688600	Weak transcription	Brain Substantia Nigra	brain
5	chr12:104683400-104696800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr12:104683600-104689000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr12:104683600-104690200	Weak transcription	Fetal Kidney	kidney
8	chr12:104683800-104688400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr12:104683800-104688600	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr12:104683800-104688800	Weak transcription	H9 Cell Line	embryonic stem cell
11	chr12:104683800-104688800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
12	chr12:104683800-104689000	Weak transcription	Spleen	Spleen
13	chr12:104683800-104690400	Strong transcription	Fetal Muscle Trunk	muscle
14	chr12:104683800-104693800	Weak transcription	Fetal Heart	heart
15	chr12:104683800-104696600	Weak transcription	Brain Anterior Caudate	brain
16	chr12:104683800-104696800	Weak transcription	Fetal Brain Male	brain
17	chr12:104683800-104697000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
18	chr12:104683800-104723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
19	chr12:104684000-104689000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr12:104684200-104687400	Genic enhancers	NHEK	skin
21	chr12:104684200-104689600	Strong transcription	Fetal Stomach	stomach
22	chr12:104684200-104693400	Strong transcription	Fetal Thymus	thymus
23	chr12:104684200-104696600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr12:104684400-104687400	Genic enhancers	Muscle Satellite Cultured Cells	--
25	chr12:104684400-104687400	Strong transcription	K562	blood
26	chr12:104684400-104687400	Genic enhancers	Osteobl	bone
27	chr12:104684400-104687800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr12:104684400-104688600	Weak transcription	Stomach Mucosa	stomach
29	chr12:104684400-104689200	Weak transcription	Esophagus	oesophagus
30	chr12:104684400-104689200	Weak transcription	Pancreas	Pancrea
31	chr12:104684400-104696600	Weak transcription	Right Atrium	heart
32	chr12:104684600-104687400	Transcr. at gene 5' and 3'	Hela-S3	cervix
33	chr12:104684600-104687800	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr12:104684600-104688400	Strong transcription	Placenta	Placenta
35	chr12:104684600-104694400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
36	chr12:104684600-104694800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
37	chr12:104684800-104688000	Strong transcription	Sigmoid Colon	Sigmoid Colon
38	chr12:104684800-104689400	Strong transcription	Liver	Liver
39	chr12:104684800-104690400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
40	chr12:104684800-104690800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
41	chr12:104684800-104693000	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr12:104684800-104693200	Strong transcription	Monocytes-CD14+_RO01746	blood
43	chr12:104685000-104695000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr12:104685200-104688400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
45	chr12:104685400-104687400	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr12:104685400-104687400	Genic enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr12:104685400-104687400	Strong transcription	Rectal Mucosa Donor 31	rectum
48	chr12:104685400-104687400	Strong transcription	Stomach Smooth Muscle	stomach
49	chr12:104685400-104687400	Strong transcription	HSMM	muscle
50	chr12:104685400-104690800	Strong transcription	Fetal Muscle Leg	muscle

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