Variant report

Variant	rs35648703
Chromosome Location	chr12:65022921-65022922
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr12:64798234..64800196-chr12:65021322..65023888,2	K562	blood:
2	chr12:65001959..65007139-chr12:65021874..65025265,5	K562	blood:
3	chr12:65001678..65008078-chr12:65013108..65023657,17	MCF-7	breast:
4	chr12:65001959..65005152-chr12:65021514..65024393,3	K562	blood:
5	chr12:65011047..65013425-chr12:65022632..65024706,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000256670	Chromatin interaction
ENSG00000153179	Chromatin interaction
ENSG00000184575	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs10128936	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12296749	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs12311754	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12832292	0.81[EUR][1000 genomes]
rs17176378	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs34002582	0.88[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35772370	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs35947911	0.92[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4495970	1.00[AFR][1000 genomes];0.88[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs56061516	0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61463437	0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832443	chr12:64878856-65057265	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv832444	chr12:64981484-65168472	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv559203	chr12:65002969-65199922	Genic enhancers Strong transcription Enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
4	nsv1045216	chr12:65009102-65176894	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
5	nsv541513	chr12:65009102-65176894	Active TSS Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
6	nsv469457	chr12:65009243-65195977	Enhancers Strong transcription Weak transcription Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
7	nsv559204	chr12:65009243-65195977	Active TSS Flanking Active TSS Enhancers Strong transcription Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
8	nsv438218	chr12:65017844-65037483	Enhancers Active TSS Transcr. at gene 5' and 3' Genic enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:96 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:65006800-65031800	Weak transcription	Dnd41	blood
2	chr12:65010000-65023200	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
3	chr12:65018000-65024600	Weak transcription	Aorta	Aorta
4	chr12:65018400-65029200	Weak transcription	H9 Cell Line	embryonic stem cell
5	chr12:65018600-65024800	Weak transcription	Gastric	stomach
6	chr12:65018600-65035000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr12:65019400-65024800	Weak transcription	Right Ventricle	heart
8	chr12:65019600-65027800	Weak transcription	Pancreas	Pancrea
9	chr12:65019800-65023000	Weak transcription	HUES64 Cell Line	embryonic stem cell
10	chr12:65019800-65023000	Enhancers	Primary B cells from peripheral blood	blood
11	chr12:65019800-65024000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr12:65019800-65024000	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr12:65019800-65025800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
14	chr12:65019800-65025800	Weak transcription	Fetal Lung	lung
15	chr12:65019800-65025800	Weak transcription	Psoas Muscle	Psoas
16	chr12:65019800-65026200	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
17	chr12:65019800-65026400	Weak transcription	Skeletal Muscle Female	skeletal muscle
18	chr12:65019800-65026600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
19	chr12:65019800-65028400	Weak transcription	Colonic Mucosa	Colon
20	chr12:65019800-65028600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
21	chr12:65019800-65029200	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr12:65019800-65030600	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
23	chr12:65019800-65047400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr12:65020200-65024800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr12:65020200-65026000	Weak transcription	Fetal Thymus	thymus
26	chr12:65020200-65026200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
27	chr12:65020200-65026400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr12:65020400-65023000	Enhancers	Primary T helper naive cells from peripheral blood	blood
29	chr12:65020400-65023200	Enhancers	Primary T killer memory cells from peripheral blood	blood
30	chr12:65020400-65026400	Weak transcription	Primary hematopoietic stem cells	blood
31	chr12:65020400-65027400	Weak transcription	Fetal Intestine Large	intestine
32	chr12:65020600-65023000	Weak transcription	Fetal Muscle Trunk	muscle
33	chr12:65020600-65024800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
34	chr12:65020600-65024800	Weak transcription	Lung	lung
35	chr12:65020600-65028200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
36	chr12:65020800-65027800	Weak transcription	Duodenum Mucosa	Duodenum
37	chr12:65021200-65025800	Weak transcription	HepG2	liver
38	chr12:65021200-65026400	Weak transcription	K562	blood
39	chr12:65021200-65031200	Genic enhancers	Primary T regulatory cells fromperipheralblood	blood
40	chr12:65021400-65024200	Weak transcription	Primary hematopoietic stem cells short term culture	blood
41	chr12:65021400-65029600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
42	chr12:65021400-65043400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr12:65021600-65023000	Weak transcription	Primary T cells from cord blood	blood
44	chr12:65021600-65025000	Weak transcription	Right Atrium	heart
45	chr12:65021600-65026200	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr12:65021600-65029400	Genic enhancers	Primary T helper cells PMA-I stimulated	--
47	chr12:65021600-65030600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr12:65021800-65023000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
49	chr12:65021800-65024400	Weak transcription	Sigmoid Colon	Sigmoid Colon
50	chr12:65021800-65024600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland

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