Variant report

Variant	rs73029114
Chromosome Location	chr2:178285181-178285182
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:178129118..178131059-chr2:178283315..178285354,2	K562	blood:
2	chr2:178256529..178258320-chr2:178284529..178287506,2	K562	blood:
3	chr2:178281186..178282700-chr2:178284322..178286913,2	K562	blood:

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

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

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs16865334	0.83[AMR][1000 genomes]
rs6726942	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs6731209	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73025650	0.85[AFR][1000 genomes]
rs73025657	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73025664	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73025688	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73025689	0.85[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs73029113	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73029117	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031241	0.83[AMR][1000 genomes]
rs73031244	1.00[AMR][1000 genomes]
rs73031280	0.83[AMR][1000 genomes]
rs7568487	0.92[AFR][1000 genomes];0.83[AMR][1000 genomes]
rs7573086	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv999086	chr2:178262348-178773585	Weak transcription Enhancers ZNF genes & repeats Strong transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
2	nsv536055	chr2:178262348-178773585	Active TSS Weak transcription Enhancers Strong transcription ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:66 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:178258800-178294200	Weak transcription	Thymus	Thymus
2	chr2:178260400-178285600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
3	chr2:178263400-178291800	Weak transcription	Duodenum Mucosa	Duodenum
4	chr2:178264200-178291600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
5	chr2:178265600-178287000	Weak transcription	K562	blood
6	chr2:178270400-178294400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr2:178271800-178291600	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr2:178272400-178285600	Weak transcription	Monocytes-CD14+_RO01746	blood
9	chr2:178272800-178295200	Weak transcription	Left Ventricle	heart
10	chr2:178273000-178288800	Weak transcription	GM12878-XiMat	blood
11	chr2:178273400-178286600	Weak transcription	HSMMtube	muscle
12	chr2:178273400-178288600	Weak transcription	Primary T cells from cord blood	blood
13	chr2:178274600-178291800	Weak transcription	Primary B cells from cord blood	blood
14	chr2:178276400-178291400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
15	chr2:178276800-178289800	Weak transcription	Fetal Intestine Large	intestine
16	chr2:178276800-178294400	Weak transcription	Psoas Muscle	Psoas
17	chr2:178277400-178291800	Weak transcription	Primary T helper cells fromperipheralblood	blood
18	chr2:178278000-178285400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr2:178279600-178294400	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr2:178280200-178291600	Weak transcription	Primary T cells fromperipheralblood	blood
21	chr2:178280400-178296000	Weak transcription	Small Intestine	intestine
22	chr2:178280800-178294400	Weak transcription	Rectal Mucosa Donor 29	rectum
23	chr2:178281200-178285400	Weak transcription	Primary monocytes fromperipheralblood	blood
24	chr2:178281200-178289400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
25	chr2:178281200-178291600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
26	chr2:178281200-178292200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr2:178281800-178291800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr2:178282800-178287200	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr2:178283000-178294600	Weak transcription	Fetal Kidney	kidney
30	chr2:178283200-178286600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
31	chr2:178283800-178285600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:178283800-178294200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
33	chr2:178283800-178295200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr2:178284000-178286200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
35	chr2:178284000-178294200	Weak transcription	NHLF	lung
36	chr2:178284200-178286000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr2:178284200-178286000	Weak transcription	HUVEC	blood vessel
38	chr2:178284200-178286600	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr2:178284200-178291600	Weak transcription	Fetal Lung	lung
40	chr2:178284400-178286600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr2:178284400-178286600	Weak transcription	NH-A	brain
42	chr2:178284400-178286800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr2:178284400-178289400	Weak transcription	Adipose Nuclei	Adipose
44	chr2:178284400-178291800	Weak transcription	Duodenum Smooth Muscle	Duodenum
45	chr2:178284400-178292000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
46	chr2:178284400-178292000	Weak transcription	Rectal Smooth Muscle	rectum
47	chr2:178284400-178294000	Weak transcription	Fetal Thymus	thymus
48	chr2:178284600-178285400	Weak transcription	Dnd41	blood
49	chr2:178284600-178285800	Enhancers	A549	lung
50	chr2:178284600-178286800	Weak transcription	Osteobl	bone

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