Variant report

Variant	rs7311623
Chromosome Location	chr12:62950235-62950236
allele	C/T
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	POLR2A	chr12:62950147-62950266	ProgFib	skin:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:62939712..62942391-chr12:62948706..62950538,2	K562	blood:

Variant related genes	Relation type
MON2	TF binding region

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10784309	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10784310	0.86[AFR][1000 genomes];0.98[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10784311	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.89[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10877884	0.86[ASN][1000 genomes]
rs2884598	0.92[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7301113	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7311194	0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs7960329	0.87[ASN][1000 genomes]
rs7966917	0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7975337	0.87[ASN][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	nsv530690	chr12:62678463-62999462	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv821671	chr12:62794304-63007964	Strong transcription ZNF genes & repeats Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	53 gene(s)	inside rSNPs	diseases
3	nsv469418	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases
4	nsv559156	chr12:62893199-62959137	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:62866600-62953200	Weak transcription	Psoas Muscle	Psoas
2	chr12:62907000-62987200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr12:62915800-62971600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr12:62917200-62995000	Weak transcription	Fetal Heart	heart
5	chr12:62917400-62960000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
6	chr12:62919800-62970000	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr12:62924400-62969800	Strong transcription	Primary monocytes fromperipheralblood	blood
8	chr12:62924800-62967600	Weak transcription	H9 Cell Line	embryonic stem cell
9	chr12:62926000-62951400	Strong transcription	Rectal Mucosa Donor 29	rectum
10	chr12:62926200-62951400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr12:62926200-62951600	Strong transcription	Fetal Thymus	thymus
12	chr12:62926200-62951800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr12:62926200-62955800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
14	chr12:62927400-62967400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr12:62928000-62950400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr12:62928000-62963400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr12:62928800-62995800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr12:62931800-62951400	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr12:62932000-62957200	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
20	chr12:62934800-62955400	Strong transcription	Primary neutrophils fromperipheralblood	blood
21	chr12:62935000-62955200	Strong transcription	Primary T helper cells fromperipheralblood	blood
22	chr12:62935400-62956400	Strong transcription	Placenta	Placenta
23	chr12:62935600-62955600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr12:62936000-62955200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
25	chr12:62936200-62951200	Strong transcription	Fetal Muscle Trunk	muscle
26	chr12:62936200-62951400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr12:62936600-62956000	Strong transcription	Primary T cells fromperipheralblood	blood
28	chr12:62936800-62954600	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr12:62937000-62951200	Strong transcription	Dnd41	blood
30	chr12:62938000-62995400	Weak transcription	Stomach Mucosa	stomach
31	chr12:62940200-62951200	Strong transcription	Fetal Muscle Leg	muscle
32	chr12:62940400-62951400	Strong transcription	Primary B cells from cord blood	blood
33	chr12:62943200-62951400	Strong transcription	Primary T cells from cord blood	blood
34	chr12:62943200-62951600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr12:62943400-62951400	Strong transcription	Osteobl	bone
36	chr12:62944200-62951000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
37	chr12:62944600-62989000	Weak transcription	Colonic Mucosa	Colon
38	chr12:62945000-62966000	Weak transcription	Esophagus	oesophagus
39	chr12:62945800-62954800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
40	chr12:62946000-62950800	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
41	chr12:62946000-62951200	Strong transcription	Sigmoid Colon	Sigmoid Colon
42	chr12:62946400-62951400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
43	chr12:62946600-62950800	Strong transcription	Pancreas	Pancrea
44	chr12:62946600-62951200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
45	chr12:62946600-62951400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr12:62946600-62951400	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr12:62946600-62951600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
48	chr12:62946600-62955000	Strong transcription	Breast Myoepithelial Primary Cells	Breast
49	chr12:62946800-62951200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr12:62947000-62951200	Strong transcription	Rectal Mucosa Donor 31	rectum

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