Variant report

Variant	rs73979722
Chromosome Location	chr2:178202603-178202604
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr2:178200914..178202692-chr2:178620399..178622390,2	K562	blood:
2	chr2:178126296..178129647-chr2:178201279..178205909,5	K562	blood:
3	chr2:178013028..178015383-chr2:178200268..178203117,2	K562	blood:
4	chr2:178202563..178204243-chr2:178260554..178263397,2	K562	blood:
5	chr2:178187416..178191009-chr2:178199776..178203917,4	K562	blood:
6	chr2:178192691..178195297-chr2:178200068..178202919,2	K562	blood:
7	chr2:178200874..178203200-chr2:178268312..178271320,3	K562	blood:
8	chr2:178200058..178202782-chr2:178255287..178258460,3	K562	blood:
9	chr2:178074665..178077313-chr2:178201726..178203980,2	K562	blood:
10	chr2:178117173..178120144-chr2:178201534..178205141,3	K562	blood:
11	chr2:178201877..178204648-chr2:178333648..178335869,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000222043	Chromatin interaction
ENSG00000018510	Chromatin interaction
ENSG00000170144	Chromatin interaction
ENSG00000116044	Chromatin interaction
ENSG00000213963	Chromatin interaction

Extended variants
information (count: 40 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10175252	0.82[EUR][1000 genomes]
rs10175660	0.82[EUR][1000 genomes]
rs10187221	1.00[EUR][1000 genomes]
rs10187323	1.00[EUR][1000 genomes]
rs10198518	0.82[EUR][1000 genomes]
rs10207495	0.82[EUR][1000 genomes]
rs10930783	0.82[EUR][1000 genomes]
rs13392350	0.82[EUR][1000 genomes]
rs13394038	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13426818	0.82[EUR][1000 genomes]
rs13429924	1.00[EUR][1000 genomes]
rs1453374	0.82[EUR][1000 genomes]
rs1453375	0.82[EUR][1000 genomes]
rs16865163	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55848656	0.82[EUR][1000 genomes]
rs56174568	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56181372	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56806189	0.82[EUR][1000 genomes]
rs58583364	0.82[EUR][1000 genomes]
rs59108338	0.90[EUR][1000 genomes]
rs59549243	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6720934	0.82[EUR][1000 genomes]
rs6720970	0.82[EUR][1000 genomes]
rs6724177	0.82[EUR][1000 genomes]
rs6735504	0.82[EUR][1000 genomes]
rs6744247	0.82[EUR][1000 genomes]
rs6746113	0.82[EUR][1000 genomes]
rs73035188	0.82[EUR][1000 genomes]
rs73035190	0.82[EUR][1000 genomes]
rs73035193	0.82[EUR][1000 genomes]
rs73039071	0.82[EUR][1000 genomes]
rs73039075	0.82[EUR][1000 genomes]
rs73979713	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979718	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979720	1.00[AFR][1000 genomes];0.92[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs73979724	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73979728	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7566319	0.82[EUR][1000 genomes]
rs7581364	0.80[AFR][1000 genomes];0.85[AMR][1000 genomes];1.00[EUR][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	nsv3051	chr2:178193436-178239394	Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:67 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178175200-178203000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
2	chr2:178187600-178216400	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr2:178187800-178210800	Weak transcription	Left Ventricle	heart
4	chr2:178187800-178216400	Weak transcription	Fetal Muscle Leg	muscle
5	chr2:178191600-178202800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr2:178193200-178202800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr2:178195200-178213600	Weak transcription	Gastric	stomach
8	chr2:178195400-178211400	Weak transcription	Fetal Intestine Small	intestine
9	chr2:178197000-178203800	Weak transcription	Brain Anterior Caudate	brain
10	chr2:178197000-178207600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
11	chr2:178197200-178202800	Weak transcription	Adipose Nuclei	Adipose
12	chr2:178197200-178202800	Weak transcription	GM12878-XiMat	blood
13	chr2:178197200-178203200	Weak transcription	Primary monocytes fromperipheralblood	blood
14	chr2:178197200-178204800	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr2:178197200-178211800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
16	chr2:178197200-178211800	Weak transcription	Brain Hippocampus Middle	brain
17	chr2:178197200-178212000	Weak transcription	Brain Cingulate Gyrus	brain
18	chr2:178197200-178213400	Weak transcription	Rectal Smooth Muscle	rectum
19	chr2:178197200-178215000	Weak transcription	Skeletal Muscle Female	skeletal muscle
20	chr2:178197200-178216800	Weak transcription	Primary T cells from cord blood	blood
21	chr2:178197200-178217600	Weak transcription	Primary B cells from cord blood	blood
22	chr2:178197600-178202800	Weak transcription	Skeletal Muscle Male	skeletal muscle
23	chr2:178197600-178211200	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:178197600-178217200	Weak transcription	Primary T helper cells PMA-I stimulated	--
25	chr2:178197800-178202800	Weak transcription	HSMMtube	muscle
26	chr2:178197800-178204800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
27	chr2:178197800-178211400	Weak transcription	Fetal Heart	heart
28	chr2:178197800-178214000	Weak transcription	Stomach Smooth Muscle	stomach
29	chr2:178197800-178215400	Weak transcription	Dnd41	blood
30	chr2:178198000-178202800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr2:178198000-178202800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr2:178198000-178203200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:178198000-178205600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr2:178198000-178206200	Weak transcription	Fetal Kidney	kidney
35	chr2:178198000-178210600	Weak transcription	HepG2	liver
36	chr2:178198000-178213000	Weak transcription	Ovary	ovary
37	chr2:178199000-178214400	Weak transcription	Monocytes-CD14+_RO01746	blood
38	chr2:178199200-178202800	Weak transcription	K562	blood
39	chr2:178199600-178213600	Weak transcription	Brain Angular Gyrus	brain
40	chr2:178200800-178203000	Weak transcription	HSMM	muscle
41	chr2:178200800-178213600	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:178201000-178211000	Weak transcription	Primary hematopoietic stem cells	blood
43	chr2:178201000-178211200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr2:178201200-178202800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
45	chr2:178202200-178203400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
46	chr2:178202200-178203800	Enhancers	Stomach Mucosa	stomach
47	chr2:178202200-178204000	Enhancers	Hela-S3	cervix
48	chr2:178202200-178217400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
49	chr2:178202400-178203800	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr2:178202600-178203000	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived

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