Variant report

Variant	rs35666255
Chromosome Location	chr12:59991287-59991288
allele	GA/TT
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr12:59990837..59991400-chr3:15373811..15374535,2	Hela-S3	cervix:
2	chr12:59990876..59991528-chr9:32552220..32553126,2	Hela-S3	cervix:

Variant related genes	Relation type
ENSG00000197579	Chromatin interaction
ENSG00000131370	Chromatin interaction
ENSG00000235453	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11609644	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11615456	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs12422902	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs12427190	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17640150	0.83[EUR][1000 genomes]
rs17640963	0.87[EUR][1000 genomes]
rs1874638	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3935589	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4399358	0.83[EUR][1000 genomes]
rs4399359	0.83[EUR][1000 genomes]
rs4760295	0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs4760296	0.87[EUR][1000 genomes]
rs4760297	0.87[EUR][1000 genomes]
rs5026370	0.83[EUR][1000 genomes]
rs61933351	0.82[EUR][1000 genomes]
rs61936271	0.83[EUR][1000 genomes]
rs61936275	0.83[EUR][1000 genomes]
rs61936276	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs61936294	0.86[EUR][1000 genomes]
rs7296400	0.82[EUR][1000 genomes]
rs73109969	0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7312501	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7315308	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs7975081	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7979792	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs954322	0.84[EUR][1000 genomes]
rs954323	0.84[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2762982	chr12:59659871-60000135	Weak transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
2	nsv1042271	chr12:59668468-59993468	Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
3	nsv1038467	chr12:59680717-59999008	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
4	nsv541507	chr12:59680717-59999008	Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers Flanking Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
5	nsv1049084	chr12:59700333-59993468	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	15 gene(s)	inside rSNPs	diseases
6	nsv869425	chr12:59746898-60479741	Weak transcription Enhancers ZNF genes & repeats Active TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	22 gene(s)	inside rSNPs	diseases
7	nsv899131	chr12:59942122-60124089	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
8	nsv1048949	chr12:59974039-60041477	Active TSS Enhancers ZNF genes & repeats Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
9	nsv1038100	chr12:59983391-60018745	Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Weak transcription Strong transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:115 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr12:59988800-59991600	Active TSS	Duodenum Mucosa	Duodenum
2	chr12:59988800-59991800	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
3	chr12:59989000-59991400	Active TSS	Breast Myoepithelial Primary Cells	Breast
4	chr12:59989000-59991400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr12:59989000-59991400	Active TSS	Right Ventricle	heart
6	chr12:59989000-59991600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
7	chr12:59989000-59991600	Active TSS	Brain Germinal Matrix	brain
8	chr12:59989000-59991600	Active TSS	Rectal Mucosa Donor 29	rectum
9	chr12:59989000-59992000	Active TSS	Brain Inferior Temporal Lobe	brain
10	chr12:59989200-59991400	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
11	chr12:59989200-59991400	Active TSS	Fetal Muscle Trunk	muscle
12	chr12:59989200-59991400	Active TSS	Psoas Muscle	Psoas
13	chr12:59989200-59991400	Bivalent/Poised TSS	A549	lung
14	chr12:59989200-59991600	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr12:59989200-59991600	Active TSS	GM12878-XiMat	blood
16	chr12:59989200-59991800	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr12:59989200-59991800	Active TSS	NHDF-Ad	bronchial
18	chr12:59989200-59992000	Active TSS	Aorta	Aorta
19	chr12:59989200-59992000	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
20	chr12:59989200-59992000	Active TSS	Right Atrium	heart
21	chr12:59989400-59991400	Active TSS	Esophagus	oesophagus
22	chr12:59989400-59991400	Active TSS	Fetal Kidney	kidney
23	chr12:59989400-59991400	Active TSS	Left Ventricle	heart
24	chr12:59989400-59991400	Active TSS	Small Intestine	intestine
25	chr12:59989400-59991600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr12:59989400-59991600	Active TSS	Rectal Smooth Muscle	rectum
27	chr12:59989600-59991400	Active TSS	Duodenum Smooth Muscle	Duodenum
28	chr12:59989600-59991400	Active TSS	Pancreatic Islets	Pancreatic Islet
29	chr12:59989600-59991400	Active TSS	Fetal Stomach	stomach
30	chr12:59989600-59991600	Active TSS	Brain Hippocampus Middle	brain
31	chr12:59990000-59991400	Flanking Active TSS	Primary hematopoietic stem cells	blood
32	chr12:59990000-59991400	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
33	chr12:59990000-59991400	Flanking Active TSS	HMEC	breast
34	chr12:59990000-59991600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr12:59990200-59991400	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
36	chr12:59990200-59991800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr12:59990200-59992000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
38	chr12:59990400-59991400	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
39	chr12:59990400-59991400	Flanking Active TSS	Liver	Liver
40	chr12:59990400-59991400	Bivalent/Poised TSS	HepG2	liver
41	chr12:59990400-59991400	Flanking Active TSS	NHEK	skin
42	chr12:59990400-59991600	Flanking Active TSS	Primary B cells from cord blood	blood
43	chr12:59990600-59991400	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr12:59990600-59991400	Flanking Active TSS	Fetal Brain Male	brain
45	chr12:59990600-59991400	Flanking Active TSS	HUVEC	blood vessel
46	chr12:59990600-59991400	Flanking Active TSS	NH-A	brain
47	chr12:59990600-59991600	Flanking Active TSS	Primary T cells fromperipheralblood	blood
48	chr12:59990600-59991600	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
49	chr12:59990800-59991400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr12:59990800-59991400	Flanking Bivalent TSS/Enh	HUES48 Cell Line	embryonic stem cell

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