Variant report

Variant	rs35154707
Chromosome Location	chr2:149310951-149310952
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:149308756..149311819-chr2:149312294..149315148,3	K562	blood:
2	chr2:149310604..149312256-chr2:149400996..149403979,2	K562	blood:

Variant related genes	Relation type
ENSG00000135999	Chromatin interaction

Extended variants
information (count: 62 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:54)

rs_ID	r²[population]
rs1020468	0.97[ASN][1000 genomes]
rs1031290	0.84[ASN][1000 genomes]
rs10454124	0.94[ASN][1000 genomes]
rs10928404	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10928407	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12464036	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12468186	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12472738	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12616115	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs12619201	0.97[ASN][1000 genomes]
rs12997473	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs12997838	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs13003132	0.99[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13004738	0.95[ASN][1000 genomes]
rs13008203	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13010027	0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs13029692	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16828791	0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs16828816	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs16828836	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs16828954	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs16828967	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs16829006	0.97[ASN][1000 genomes]
rs16829034	0.83[AFR][1000 genomes];0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1809051	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2382231	0.96[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs34210886	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34324924	0.99[AMR][1000 genomes];0.99[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34671855	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs34881950	0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs35057193	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35076661	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs35168772	0.90[AMR][1000 genomes];0.99[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36067597	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4972369	0.86[AMR][1000 genomes]
rs4972375	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4972380	0.97[ASN][1000 genomes]
rs4972381	0.97[ASN][1000 genomes]
rs4972383	0.94[ASN][1000 genomes]
rs6430323	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6709767	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6743835	0.96[ASN][1000 genomes]
rs6746352	0.85[AMR][1000 genomes];0.99[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs6756002	0.83[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs71413623	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs720844	0.94[ASN][1000 genomes]
rs7571333	0.97[ASN][1000 genomes]
rs7578059	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7590549	0.97[ASN][1000 genomes]
rs7597133	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7599758	0.83[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs7606475	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs930651	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs930652	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[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	nsv1012275	chr2:149031668-149316793	Enhancers Strong transcription Flanking Active TSS Weak transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	esv2751831	chr2:149151358-150105603	Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv1000101	chr2:149165813-149361220	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	nsv868861	chr2:149198443-149434604	Enhancers Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
5	nsv917109	chr2:149198443-149948302	ZNF genes & repeats Weak transcription Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
6	nsv1004663	chr2:149214090-149373061	Enhancers Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Weak transcription 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	5 gene(s)	inside rSNPs	diseases
7	esv2762913	chr2:149249683-149345487	Weak transcription Enhancers Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
8	nsv527539	chr2:149283070-149330251	Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:149303200-149311000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
2	chr2:149309000-149311000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr2:149309200-149312000	Weak transcription	Cortex derived primary cultured neurospheres	brain
4	chr2:149310000-149311400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr2:149310200-149311000	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
6	chr2:149310200-149311000	Active TSS	Aorta	Aorta
7	chr2:149310200-149311000	Active TSS	Brain Cingulate Gyrus	brain
8	chr2:149310200-149311000	Active TSS	Brain Inferior Temporal Lobe	brain
9	chr2:149310200-149311000	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr2:149310200-149311000	Active TSS	Rectal Smooth Muscle	rectum
11	chr2:149310200-149311000	Flanking Active TSS	GM12878-XiMat	blood
12	chr2:149310200-149311200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
13	chr2:149310200-149311200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
14	chr2:149310200-149311200	Active TSS	Primary B cells from cord blood	blood
15	chr2:149310200-149311200	Flanking Active TSS	Primary hematopoietic stem cells	blood
16	chr2:149310200-149311200	Flanking Active TSS	Primary hematopoietic stem cells short term culture	blood
17	chr2:149310200-149311200	Active TSS	Primary T regulatory cells fromperipheralblood	blood
18	chr2:149310200-149311200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr2:149310200-149311200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr2:149310200-149311200	Active TSS	Muscle Satellite Cultured Cells	--
21	chr2:149310200-149311200	Active TSS	Brain Hippocampus Middle	brain
22	chr2:149310200-149311200	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
23	chr2:149310200-149311200	Active TSS	Colonic Mucosa	Colon
24	chr2:149310200-149311200	Active TSS	Duodenum Smooth Muscle	Duodenum
25	chr2:149310200-149311200	Flanking Active TSS	Fetal Lung	lung
26	chr2:149310200-149311200	Active TSS	Ovary	ovary
27	chr2:149310200-149311200	Active TSS	Rectal Mucosa Donor 29	rectum
28	chr2:149310200-149311200	Active TSS	Rectal Mucosa Donor 31	rectum
29	chr2:149310200-149311200	Active TSS	Stomach Smooth Muscle	stomach
30	chr2:149310200-149311200	Active TSS	NHLF	lung
31	chr2:149310200-149311200	Active TSS	Osteobl	bone
32	chr2:149310200-149311400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood
33	chr2:149310200-149311400	Active TSS	Duodenum Mucosa	Duodenum
34	chr2:149310200-149311400	Flanking Active TSS	Dnd41	blood
35	chr2:149310400-149311000	Active TSS	IMR90 fetal lung fibroblasts Cell Line	lung
36	chr2:149310400-149311000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr2:149310400-149311000	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
38	chr2:149310400-149311000	Active TSS	Primary T cells from cord blood	blood
39	chr2:149310400-149311000	Flanking Active TSS	Primary mononuclear cells fromperipheralblood	Blood
40	chr2:149310400-149311000	Active TSS	Liver	Liver
41	chr2:149310400-149311000	Active TSS	Brain Anterior Caudate	brain
42	chr2:149310400-149311000	Active TSS	Left Ventricle	heart
43	chr2:149310400-149311000	Active TSS	Right Atrium	heart
44	chr2:149310400-149311000	Active TSS	A549	lung
45	chr2:149310400-149311000	Active TSS	HSMM	muscle
46	chr2:149310400-149311000	Active TSS	HUVEC	blood vessel
47	chr2:149310400-149311000	Active TSS	Monocytes-CD14+_RO01746	blood
48	chr2:149310400-149311000	Active TSS	NHDF-Ad	bronchial
49	chr2:149310400-149311200	Flanking Active TSS	Primary B cells from peripheral blood	blood
50	chr2:149310400-149311200	Active TSS	Brain Substantia Nigra	brain

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