Variant report

Variant	rs2069674
Chromosome Location	chr5:75915534-75915535
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	chr5:75914946..75917081-chr5:75935923..75937441,2	K562	blood:
2	chr5:75910340..75912765-chr5:75915221..75917269,3	K562	blood:

Extended variants
information (count: 6 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs2069657	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs2069663	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs2069681	0.88[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4704345	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][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	nsv1016823	chr5:75831037-75915905	Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
2	nsv1019669	chr5:75836365-76477788	Weak transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Bivalent Enhancer Strong transcription Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:75879000-75917600	Weak transcription	Fetal Thymus	thymus
2	chr5:75879000-75934000	Weak transcription	Small Intestine	intestine
3	chr5:75879200-75919000	Weak transcription	H9 Cell Line	embryonic stem cell
4	chr5:75880200-75933400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr5:75882600-75969400	Weak transcription	Stomach Mucosa	stomach
6	chr5:75884400-75919200	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr5:75884400-75919400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr5:75901200-75917000	Weak transcription	HUVEC	blood vessel
9	chr5:75902600-75919200	Strong transcription	Primary T cells from cord blood	blood
10	chr5:75903600-75917800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
11	chr5:75903800-75916000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
12	chr5:75903800-75916000	Weak transcription	Primary B cells from peripheral blood	blood
13	chr5:75903800-75917800	Weak transcription	Rectal Smooth Muscle	rectum
14	chr5:75903800-75918800	Weak transcription	Fetal Kidney	kidney
15	chr5:75903800-75918800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr5:75903800-75936200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr5:75903800-75943600	Weak transcription	Spleen	Spleen
18	chr5:75905000-75915600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr5:75905200-75919000	Weak transcription	Cortex derived primary cultured neurospheres	brain
20	chr5:75906200-75915800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
21	chr5:75906800-75915600	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr5:75907600-75916000	Weak transcription	K562	blood
23	chr5:75907600-75923000	Weak transcription	Placenta	Placenta
24	chr5:75907800-75934600	Weak transcription	Rectal Mucosa Donor 31	rectum
25	chr5:75908000-75915800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
26	chr5:75908000-75918000	Weak transcription	Duodenum Smooth Muscle	Duodenum
27	chr5:75908000-75918800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
28	chr5:75908000-75919000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
29	chr5:75908000-75919000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr5:75908000-75928000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
31	chr5:75909000-75923200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr5:75909200-75923000	Weak transcription	Lung	lung
33	chr5:75910200-75917400	Weak transcription	Fetal Intestine Small	intestine
34	chr5:75910200-75919000	Weak transcription	HUES6 Cell Line	embryonic stem cell
35	chr5:75910200-75921200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
36	chr5:75911200-75923000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
37	chr5:75911800-75918200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
38	chr5:75912000-75917800	Weak transcription	Rectal Mucosa Donor 29	rectum
39	chr5:75912800-75916200	Strong transcription	Primary hematopoietic stem cells	blood
40	chr5:75912800-75916400	Strong transcription	Liver	Liver
41	chr5:75913400-75934600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
42	chr5:75913600-75917200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr5:75914000-75916000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
44	chr5:75914000-75919000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr5:75914000-75921800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr5:75914200-75915800	Weak transcription	A549	lung
47	chr5:75914200-75916800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
48	chr5:75914200-75917000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr5:75914200-75917000	Weak transcription	Primary B cells from cord blood	blood
50	chr5:75914200-75917000	Weak transcription	Osteobl	bone

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