Variant report

Variant	rs2373088
Chromosome Location	chr3:45968404-45968405
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	chr3:45965599..45968442-chr3:45968731..45971652,2	K562	blood:

Extended variants
information (count: 11 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs1047444	0.81[EUR][1000 genomes]
rs1488373	0.81[EUR][1000 genomes]
rs1488374	0.81[EUR][1000 genomes]
rs1532070	0.81[EUR][1000 genomes]
rs7130	0.81[EUR][1000 genomes]
rs7634640	0.80[EUR][1000 genomes]
rs9810934	0.81[EUR][1000 genomes]

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	nsv876734	chr3:45725031-46468467	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv498008	chr3:45733423-46319401	Strong transcription Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Weak transcription Flanking Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	29 gene(s)	inside rSNPs	diseases
3	nsv834678	chr3:45804294-46010256	Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
4	nsv876736	chr3:45900621-46027410	Strong transcription Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs2373088	FYCO1	cis	Skin Sun Exposed Lower leg	GTEx

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:45957800-45969000	Weak transcription	K562	blood
2	chr3:45957800-45971200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr3:45958000-45969000	Weak transcription	NH-A	brain
4	chr3:45958000-45980800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
5	chr3:45958400-45974200	Strong transcription	Fetal Stomach	stomach
6	chr3:45958600-45968800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr3:45958600-45970000	Weak transcription	Small Intestine	intestine
8	chr3:45958800-45980000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
9	chr3:45958800-45980200	Strong transcription	Skeletal Muscle Male	skeletal muscle
10	chr3:45958800-45988000	Weak transcription	HUVEC	blood vessel
11	chr3:45959000-45973600	Weak transcription	Fetal Kidney	kidney
12	chr3:45959200-45979800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
13	chr3:45959200-45980400	Strong transcription	Skeletal Muscle Female	skeletal muscle
14	chr3:45959400-45971800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
15	chr3:45959400-45973400	Strong transcription	Primary monocytes fromperipheralblood	blood
16	chr3:45959400-46009800	Weak transcription	Placenta Amnion	Placenta Amnion
17	chr3:45959600-45973200	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr3:45959800-45974600	Strong transcription	Fetal Muscle Trunk	muscle
19	chr3:45959800-45979800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
20	chr3:45959800-45979800	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr3:45959800-45980400	Strong transcription	Primary hematopoietic stem cells short term culture	blood
22	chr3:45960000-45979400	Strong transcription	Fetal Intestine Large	intestine
23	chr3:45960000-45980400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr3:45960200-45974200	Strong transcription	Fetal Intestine Small	intestine
25	chr3:45960400-45969000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:45960400-45980200	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
27	chr3:45961600-45979400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
28	chr3:45961600-45979800	Strong transcription	Primary B cells from peripheral blood	blood
29	chr3:45963200-45985200	Weak transcription	Pancreatic Islets	Pancreatic Islet
30	chr3:45963800-45979800	Strong transcription	Primary T cells from cord blood	blood
31	chr3:45963800-45979800	Strong transcription	Primary T helper cells fromperipheralblood	blood
32	chr3:45964200-45970400	Strong transcription	Primary T cells fromperipheralblood	blood
33	chr3:45964200-45970400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
34	chr3:45964400-45980400	Weak transcription	Fetal Brain Female	brain
35	chr3:45965000-45969200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
36	chr3:45965000-45970400	Weak transcription	Fetal Heart	heart
37	chr3:45965200-45968600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
38	chr3:45965200-45969800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr3:45965200-45972200	Weak transcription	Brain Germinal Matrix	brain
40	chr3:45965400-45971400	Weak transcription	NHEK	skin
41	chr3:45965400-45975800	Weak transcription	Psoas Muscle	Psoas
42	chr3:45965400-45977600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr3:45965400-45980400	Weak transcription	Fetal Brain Male	brain
44	chr3:45965600-45968600	Weak transcription	HUES64 Cell Line	embryonic stem cell
45	chr3:45965600-45968800	Weak transcription	HUES48 Cell Line	embryonic stem cell
46	chr3:45965600-45969000	Weak transcription	H1 Cell Line	embryonic stem cell
47	chr3:45965600-45969000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr3:45965600-45969000	Weak transcription	Brain Cingulate Gyrus	brain
49	chr3:45965600-45969200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
50	chr3:45965600-45969200	Weak transcription	Osteobl	bone

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