Variant report

Variant	rs2945159
Chromosome Location	chr1:85038490-85038491
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:84966614..84978118-chr1:85034515..85041986,38	K562	blood:
2	chr1:84966967..84974535-chr1:85036439..85041823,24	K562	blood:
3	chr1:84943703..84948095-chr1:85037647..85043843,8	K562	blood:
4	chr1:85037440..85039387-chr1:85215533..85217595,2	K562	blood:
5	chr1:78469816..78472130-chr1:85037007..85038598,2	K562	blood:
6	chr1:84953201..84955322-chr1:85035250..85039258,3	K562	blood:
7	chr1:85035171..85039138-chr1:85044940..85048929,5	K562	blood:

Variant related genes	Relation type
ENSG00000174021	Chromatin interaction
ENSG00000122432	Chromatin interaction
ENSG00000162616	Chromatin interaction
ENSG00000117133	Chromatin interaction
ENSG00000273338	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs1246156	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1246256	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1911157	1.00[AMR][1000 genomes]
rs2135552	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2659168	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2911587	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2911596	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2943667	0.93[AFR][1000 genomes]
rs2945154	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2945157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2994952	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs3096444	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs312396	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs312400	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs312402	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7511674	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1000325	chr1:85032605-85100748	Active TSS Strong transcription Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:84992400-85038800	Weak transcription	Skeletal Muscle Female	skeletal muscle
2	chr1:84998600-85038800	Weak transcription	Right Ventricle	heart
3	chr1:85006600-85038600	Weak transcription	Stomach Smooth Muscle	stomach
4	chr1:85007200-85038600	Weak transcription	Rectal Smooth Muscle	rectum
5	chr1:85008800-85039000	Weak transcription	Fetal Brain Male	brain
6	chr1:85014800-85039600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr1:85017400-85039600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:85022000-85038800	Weak transcription	Placenta Amnion	Placenta Amnion
9	chr1:85024800-85038800	Weak transcription	Brain Angular Gyrus	brain
10	chr1:85025600-85038800	Weak transcription	HSMMtube	muscle
11	chr1:85025800-85038800	Weak transcription	Brain Substantia Nigra	brain
12	chr1:85025800-85038800	Weak transcription	Fetal Heart	heart
13	chr1:85026200-85038800	Weak transcription	Brain Cingulate Gyrus	brain
14	chr1:85027200-85038600	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr1:85027800-85038600	Weak transcription	Fetal Kidney	kidney
16	chr1:85028000-85038600	Weak transcription	Fetal Lung	lung
17	chr1:85028200-85038800	Weak transcription	Brain Hippocampus Middle	brain
18	chr1:85028200-85038800	Weak transcription	HSMM	muscle
19	chr1:85028800-85039600	Weak transcription	Gastric	stomach
20	chr1:85029000-85038800	Weak transcription	A549	lung
21	chr1:85029200-85038600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr1:85029600-85038600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr1:85030800-85038800	Weak transcription	Fetal Stomach	stomach
24	chr1:85031200-85038600	Weak transcription	Brain Anterior Caudate	brain
25	chr1:85032200-85038600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
26	chr1:85032800-85038600	Weak transcription	Psoas Muscle	Psoas
27	chr1:85034000-85038800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
28	chr1:85034600-85039400	Weak transcription	Esophagus	oesophagus
29	chr1:85035400-85038600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr1:85035400-85038600	Weak transcription	Rectal Mucosa Donor 31	rectum
31	chr1:85035400-85038800	Weak transcription	Fetal Muscle Leg	muscle
32	chr1:85035400-85039200	Weak transcription	Lung	lung
33	chr1:85035400-85039400	Weak transcription	Fetal Muscle Trunk	muscle
34	chr1:85035400-85039400	Weak transcription	Pancreas	Pancrea
35	chr1:85036200-85038600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr1:85036200-85038600	Enhancers	Primary T helper naive cells from peripheral blood	blood
37	chr1:85036200-85038600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
38	chr1:85036400-85038600	Weak transcription	Pancreatic Islets	Pancreatic Islet
39	chr1:85036400-85038800	Enhancers	Primary T killer naive cells fromperipheralblood	blood
40	chr1:85036400-85038800	Enhancers	Primary T killer memory cells from peripheral blood	blood
41	chr1:85036400-85038800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr1:85036600-85038600	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr1:85036600-85038600	Enhancers	Hela-S3	cervix
44	chr1:85036600-85038800	Enhancers	HUES64 Cell Line	embryonic stem cell
45	chr1:85036800-85038600	Enhancers	Primary T helper cells fromperipheralblood	blood
46	chr1:85036800-85039200	Weak transcription	Ovary	ovary
47	chr1:85037000-85038600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
48	chr1:85037000-85038600	Enhancers	HUVEC	blood vessel
49	chr1:85037000-85038600	Weak transcription	NHLF	lung
50	chr1:85037000-85038800	Enhancers	iPS-15b Cell Line	embryonic stem cell

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