Variant report

Variant	rs73180130
Chromosome Location	chr12:104688449-104688450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:104528933..104532757-chr12:104688299..104690796,3	MCF-7	breast:
2	chr12:104570809..104571731-chr12:104687793..104688584,2	MCF-7	breast:
3	chr12:104688119..104689021-chr19:47220181..47220906,2	NB4	blood:
4	chr12:104688241..104690008-chr12:104706410..104708778,2	MCF-7	breast:
5	chr12:104606513..104608916-chr12:104687474..104689999,2	K562	blood:
6	chr12:104688038..104691573-chr12:104694221..104698678,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105287	Chromatin interaction
ENSG00000120837	Chromatin interaction
ENSG00000255150	Chromatin interaction

Extended variants
information (count: 25 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:20)

rs_ID	r²[population]
rs10047589	0.88[ASN][1000 genomes]
rs10778322	0.90[ASN][1000 genomes]
rs10861186	0.90[ASN][1000 genomes]
rs10861200	0.85[ASN][1000 genomes]
rs11111993	0.90[ASN][1000 genomes]
rs11610799	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11611385	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34015677	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34615738	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs34621285	0.90[ASN][1000 genomes]
rs35359688	0.96[ASN][1000 genomes]
rs4411337	0.90[ASN][1000 genomes]
rs4564401	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4964287	0.89[ASN][1000 genomes]
rs7138318	0.90[ASN][1000 genomes]
rs7294412	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7300638	0.89[ASN][1000 genomes]
rs73181910	0.91[ASN][1000 genomes]
rs73181913	0.93[ASN][1000 genomes]
rs73181918	0.83[ASN][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	chr12:104683400-104688600	Weak transcription	Brain Substantia Nigra	brain
2	chr12:104683400-104696800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr12:104683600-104689000	Weak transcription	Brain Cingulate Gyrus	brain
4	chr12:104683600-104690200	Weak transcription	Fetal Kidney	kidney
5	chr12:104683800-104688600	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr12:104683800-104688800	Weak transcription	H9 Cell Line	embryonic stem cell
7	chr12:104683800-104688800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
8	chr12:104683800-104689000	Weak transcription	Spleen	Spleen
9	chr12:104683800-104690400	Strong transcription	Fetal Muscle Trunk	muscle
10	chr12:104683800-104693800	Weak transcription	Fetal Heart	heart
11	chr12:104683800-104696600	Weak transcription	Brain Anterior Caudate	brain
12	chr12:104683800-104696800	Weak transcription	Fetal Brain Male	brain
13	chr12:104683800-104697000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
14	chr12:104683800-104723800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
15	chr12:104684000-104689000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr12:104684200-104689600	Strong transcription	Fetal Stomach	stomach
17	chr12:104684200-104693400	Strong transcription	Fetal Thymus	thymus
18	chr12:104684200-104696600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr12:104684400-104688600	Weak transcription	Stomach Mucosa	stomach
20	chr12:104684400-104689200	Weak transcription	Esophagus	oesophagus
21	chr12:104684400-104689200	Weak transcription	Pancreas	Pancrea
22	chr12:104684400-104696600	Weak transcription	Right Atrium	heart
23	chr12:104684600-104694400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr12:104684600-104694800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
25	chr12:104684800-104689400	Strong transcription	Liver	Liver
26	chr12:104684800-104690400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr12:104684800-104690800	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
28	chr12:104684800-104693000	Strong transcription	Primary monocytes fromperipheralblood	blood
29	chr12:104684800-104693200	Strong transcription	Monocytes-CD14+_RO01746	blood
30	chr12:104685000-104695000	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr12:104685400-104690800	Strong transcription	Fetal Muscle Leg	muscle
32	chr12:104685400-104691800	Strong transcription	Primary T cells from cord blood	blood
33	chr12:104685600-104688600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr12:104685600-104690000	Strong transcription	Brain Germinal Matrix	brain
35	chr12:104685600-104690000	Strong transcription	Duodenum Mucosa	Duodenum
36	chr12:104685600-104690200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
37	chr12:104685600-104690800	Strong transcription	Fetal Brain Female	brain
38	chr12:104685600-104691000	Strong transcription	Primary B cells from cord blood	blood
39	chr12:104685600-104691800	Strong transcription	Cortex derived primary cultured neurospheres	brain
40	chr12:104685800-104691800	Strong transcription	Thymus	Thymus
41	chr12:104685800-104696800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr12:104686000-104689000	Weak transcription	Skeletal Muscle Male	skeletal muscle
43	chr12:104686000-104694200	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr12:104686000-104696800	Weak transcription	Brain Angular Gyrus	brain
45	chr12:104686200-104689000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr12:104686200-104696800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
47	chr12:104686200-104700600	Strong transcription	Dnd41	blood
48	chr12:104686400-104688600	Weak transcription	Rectal Smooth Muscle	rectum
49	chr12:104686400-104689400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
50	chr12:104686400-104689600	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived

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