Variant report

Variant	rs2100034
Chromosome Location	chr5:74086902-74086903
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10515190	0.82[EUR][1000 genomes]
rs16872269	1.00[EUR][1000 genomes]
rs16872340	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs16872352	0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs1979014	0.90[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2100032	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35080306	0.82[EUR][1000 genomes]
rs3932895	0.82[AFR][1000 genomes]
rs6453081	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116712	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73116717	0.85[ASN][1000 genomes]
rs73116725	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73116733	0.86[AMR][1000 genomes];0.82[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	nsv598653	chr5:73992881-74095542	Active TSS Weak transcription Strong transcription Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:74064000-74112400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr5:74064200-74102000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr5:74064400-74134600	Weak transcription	Fetal Brain Male	brain
4	chr5:74064800-74101200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
5	chr5:74066600-74112800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr5:74069000-74153000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
7	chr5:74069600-74102600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
8	chr5:74069800-74097000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
9	chr5:74070000-74095000	Weak transcription	Fetal Kidney	kidney
10	chr5:74070000-74097000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr5:74070000-74111600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
12	chr5:74071400-74095200	Weak transcription	Spleen	Spleen
13	chr5:74072400-74095600	Weak transcription	Left Ventricle	heart
14	chr5:74074200-74102600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
15	chr5:74074800-74094600	Weak transcription	HSMM	muscle
16	chr5:74074800-74097200	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr5:74074800-74097400	Weak transcription	Liver	Liver
18	chr5:74074800-74102200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr5:74074800-74143400	Weak transcription	Primary B cells from cord blood	blood
20	chr5:74076400-74095400	Weak transcription	Cortex derived primary cultured neurospheres	brain
21	chr5:74079200-74091400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
22	chr5:74079400-74095000	Weak transcription	HMEC	breast
23	chr5:74081200-74101200	Strong transcription	HUES64 Cell Line	embryonic stem cell
24	chr5:74081200-74101200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:74081400-74097800	Strong transcription	H9 Cell Line	embryonic stem cell
26	chr5:74081400-74101400	Strong transcription	HUES6 Cell Line	embryonic stem cell
27	chr5:74081600-74098000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr5:74081600-74098600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
29	chr5:74081800-74101200	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr5:74082400-74097800	Strong transcription	H1 Cell Line	embryonic stem cell
31	chr5:74082600-74089000	Strong transcription	Primary T cells from cord blood	blood
32	chr5:74082800-74087000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr5:74082800-74087400	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr5:74083000-74089800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
35	chr5:74083200-74088200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr5:74083200-74098000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
37	chr5:74083600-74090000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr5:74084200-74095400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
39	chr5:74084600-74087200	Strong transcription	Brain Inferior Temporal Lobe	brain
40	chr5:74084600-74088400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
41	chr5:74084600-74089400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
42	chr5:74084800-74088400	Strong transcription	HepG2	liver
43	chr5:74084800-74088600	Strong transcription	Primary T cells fromperipheralblood	blood
44	chr5:74085800-74087200	Strong transcription	iPS DF 19.11 Cell Line	embryonic stem cell
45	chr5:74085800-74087400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
46	chr5:74085800-74089000	Strong transcription	Brain Cingulate Gyrus	brain
47	chr5:74085800-74089200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr5:74085800-74089600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr5:74085800-74089600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
50	chr5:74085800-74089600	Strong transcription	Ovary	ovary

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