Variant report

Variant	rs2678072
Chromosome Location	chr5:118815390-118815391
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	chr5:118787302..118789344-chr5:118814419..118817189,2	K562	blood:

Variant related genes	Relation type
ENSG00000133835	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs1143650	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2431545	0.85[AFR][1000 genomes]
rs2546206	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546207	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546208	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546209	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546212	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560719	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560720	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560721	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560722	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560724	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636960	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636965	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636967	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636970	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2652698	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678068	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678069	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678073	1.00[AMR][1000 genomes]
rs2678075	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678077	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678082	1.00[AMR][1000 genomes]
rs2678083	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678093	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34053410	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35121430	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1030717	chr5:118709310-118836951	Active TSS Strong transcription Enhancers Genic enhancers Weak transcription Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv427732	chr5:118730999-119034741	Strong transcription Weak transcription Enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	19 gene(s)	inside rSNPs	diseases
3	nsv1024455	chr5:118770429-119487982	Strong transcription Active TSS Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118789000-118826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
2	chr5:118789400-118831200	Weak transcription	NH-A	brain
3	chr5:118789400-118831600	Weak transcription	HSMMtube	muscle
4	chr5:118791800-118846600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr5:118794800-118861200	Weak transcription	HSMM	muscle
6	chr5:118804200-118879600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr5:118804400-118820000	Weak transcription	NHDF-Ad	bronchial
8	chr5:118804600-118818800	Weak transcription	Stomach Mucosa	stomach
9	chr5:118804600-118819400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
10	chr5:118804800-118821400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr5:118804800-118837000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
12	chr5:118805200-118839400	Weak transcription	NHEK	skin
13	chr5:118805600-118817200	Weak transcription	Fetal Brain Female	brain
14	chr5:118805800-118817000	Weak transcription	Primary T helper cells PMA-I stimulated	--
15	chr5:118805800-118829400	Weak transcription	Rectal Smooth Muscle	rectum
16	chr5:118806000-118846400	Weak transcription	Esophagus	oesophagus
17	chr5:118806000-118846400	Weak transcription	Spleen	Spleen
18	chr5:118806200-118831400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
19	chr5:118806200-118844800	Weak transcription	Thymus	Thymus
20	chr5:118806200-118846400	Weak transcription	Pancreas	Pancrea
21	chr5:118806200-118855600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr5:118806400-118831200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
23	chr5:118806400-118845000	Weak transcription	Fetal Stomach	stomach
24	chr5:118806400-118846400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr5:118806600-118832000	Weak transcription	HUVEC	blood vessel
26	chr5:118806800-118845400	Weak transcription	Fetal Heart	heart
27	chr5:118808000-118815800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
28	chr5:118808000-118839600	Strong transcription	Monocytes-CD14+_RO01746	blood
29	chr5:118808000-118839800	Weak transcription	Psoas Muscle	Psoas
30	chr5:118808200-118815800	Strong transcription	Primary B cells from peripheral blood	blood
31	chr5:118808200-118816200	Strong transcription	Primary monocytes fromperipheralblood	blood
32	chr5:118808400-118816000	Strong transcription	Rectal Mucosa Donor 31	rectum
33	chr5:118809400-118815800	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr5:118809600-118816000	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr5:118809600-118818200	Strong transcription	Liver	Liver
36	chr5:118809600-118838000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr5:118810600-118823200	Strong transcription	Primary T helper cells fromperipheralblood	blood
38	chr5:118811200-118815800	Strong transcription	Primary B cells from cord blood	blood
39	chr5:118811200-118839600	Weak transcription	Brain Germinal Matrix	brain
40	chr5:118811400-118815600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr5:118811800-118815600	Strong transcription	Primary T cells from cord blood	blood
42	chr5:118811800-118816000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
43	chr5:118811800-118816000	Strong transcription	Duodenum Smooth Muscle	Duodenum
44	chr5:118811800-118816000	Strong transcription	Fetal Thymus	thymus
45	chr5:118811800-118817800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr5:118811800-118820000	Strong transcription	Left Ventricle	heart
47	chr5:118811800-118820400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
48	chr5:118812000-118815600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
49	chr5:118812000-118815800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
50	chr5:118812000-118815800	Strong transcription	Fetal Intestine Large	intestine

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