Variant report

Variant	rs2636967
Chromosome Location	chr5:118792502-118792503
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 33 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs1143650	1.00[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2431545	0.85[AFR][1000 genomes]
rs2546206	0.92[YRI][hapmap];0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546207	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546208	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546209	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2546212	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560719	0.92[YRI][hapmap];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	1.00[ASW][hapmap];0.90[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2560724	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636960	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636965	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636970	1.00[ASW][hapmap];0.83[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2636971	1.00[ASW][hapmap]
rs2652698	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678068	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678069	1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678072	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678073	1.00[AMR][1000 genomes]
rs2678075	1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678077	0.85[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678082	1.00[ASW][hapmap];0.91[LWK][hapmap];1.00[MKK][hapmap];0.85[YRI][hapmap];1.00[AMR][1000 genomes]
rs2678083	1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2678093	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34053410	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs35121430	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6869575	0.91[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:4 , 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	nsv4974	chr5:118750259-118795376	Genic enhancers Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	12 gene(s)	inside rSNPs	diseases
4	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:118789000-118795600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
2	chr5:118789000-118805000	Weak transcription	Esophagus	oesophagus
3	chr5:118789000-118805400	Weak transcription	Ovary	ovary
4	chr5:118789000-118805400	Weak transcription	Spleen	Spleen
5	chr5:118789000-118811800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
6	chr5:118789000-118813200	Weak transcription	Fetal Muscle Trunk	muscle
7	chr5:118789000-118826800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
8	chr5:118789200-118792600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
9	chr5:118789200-118792800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
10	chr5:118789200-118792800	Weak transcription	Right Ventricle	heart
11	chr5:118789200-118793400	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr5:118789200-118794400	Weak transcription	Primary hematopoietic stem cells	blood
13	chr5:118789200-118797600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
14	chr5:118789200-118803800	Weak transcription	Primary T cells fromperipheralblood	blood
15	chr5:118789200-118803800	Weak transcription	Primary T helper cells fromperipheralblood	blood
16	chr5:118789200-118805000	Weak transcription	Thymus	Thymus
17	chr5:118789200-118805400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr5:118789200-118805600	Weak transcription	Gastric	stomach
19	chr5:118789200-118813200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr5:118789400-118792800	Weak transcription	Placenta	Placenta
21	chr5:118789400-118793000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr5:118789400-118793000	Weak transcription	HSMM	muscle
23	chr5:118789400-118794400	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr5:118789400-118794600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr5:118789400-118794800	Weak transcription	HUVEC	blood vessel
26	chr5:118789400-118800600	Weak transcription	Primary T helper cells PMA-I stimulated	--
27	chr5:118789400-118803800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr5:118789400-118805200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr5:118789400-118831200	Weak transcription	NH-A	brain
30	chr5:118789400-118831600	Weak transcription	HSMMtube	muscle
31	chr5:118789600-118794800	Weak transcription	NHEK	skin
32	chr5:118789600-118798400	Weak transcription	Adipose Nuclei	Adipose
33	chr5:118789600-118802800	Weak transcription	Duodenum Smooth Muscle	Duodenum
34	chr5:118789600-118804000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
35	chr5:118789600-118810600	Weak transcription	Osteobl	bone
36	chr5:118789600-118812000	Weak transcription	A549	lung
37	chr5:118789600-118813400	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr5:118789600-118813600	Weak transcription	Stomach Smooth Muscle	stomach
39	chr5:118789800-118792800	Weak transcription	Brain Hippocampus Middle	brain
40	chr5:118789800-118792800	Weak transcription	Fetal Brain Female	brain
41	chr5:118789800-118792800	Weak transcription	Rectal Mucosa Donor 29	rectum
42	chr5:118789800-118792800	Weak transcription	Sigmoid Colon	Sigmoid Colon
43	chr5:118789800-118793000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
44	chr5:118789800-118794000	Weak transcription	Fetal Intestine Small	intestine
45	chr5:118789800-118794400	Weak transcription	Brain Anterior Caudate	brain
46	chr5:118789800-118795000	Weak transcription	Skeletal Muscle Female	skeletal muscle
47	chr5:118789800-118796000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
48	chr5:118789800-118798000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
49	chr5:118789800-118798800	Weak transcription	NHDF-Ad	bronchial
50	chr5:118789800-118799000	Weak transcription	HMEC	breast

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