Variant report

Variant	rs6544053
Chromosome Location	chr2:37280034-37280035
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:37273282..37277482-chr2:37277722..37281272,4	K562	blood:

Extended variants
information (count: 28 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs10177315	0.88[EUR][1000 genomes]
rs2372443	0.92[EUR][1000 genomes]
rs2706807	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs2706808	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs3856498	0.97[EUR][1000 genomes]
rs4233920	0.82[CEU][hapmap];0.90[EUR][1000 genomes]
rs4648212	0.82[CEU][hapmap];1.00[AFR][1000 genomes]
rs4648216	1.00[AFR][1000 genomes]
rs4648219	1.00[AFR][1000 genomes]
rs4648234	0.82[CEU][hapmap];0.84[EUR][1000 genomes]
rs4648237	1.00[AFR][1000 genomes];0.84[EUR][1000 genomes]
rs62621388	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6544054	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6544055	1.00[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs6544056	0.81[EUR][1000 genomes]
rs6720519	1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6726403	1.00[CEU][hapmap];1.00[AFR][1000 genomes];0.95[EUR][1000 genomes]
rs6734153	1.00[CEU][hapmap];0.97[EUR][1000 genomes]
rs6735749	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs6738111	1.00[CEU][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6758981	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes]
rs7568925	0.95[EUR][1000 genomes]
rs7590377	1.00[AFR][1000 genomes];0.92[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1004483	chr2:36875235-37356812	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
2	nsv535644	chr2:36875235-37356812	Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
3	nsv428395	chr2:36990348-37300352	Active TSS Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	nsv873879	chr2:37200033-37299145	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
5	nsv581472	chr2:37235324-37291320	Strong transcription Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6544053	CCDC75	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37209000-37290200	Weak transcription	Small Intestine	intestine
2	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:37223400-37282600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
4	chr2:37223400-37300400	Strong transcription	Primary T cells fromperipheralblood	blood
5	chr2:37240400-37304800	Strong transcription	Primary T helper cells fromperipheralblood	blood
6	chr2:37240600-37306000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
7	chr2:37240800-37281800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
8	chr2:37240800-37306400	Strong transcription	Monocytes-CD14+_RO01746	blood
9	chr2:37240800-37307000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr2:37241200-37306000	Strong transcription	Primary monocytes fromperipheralblood	blood
11	chr2:37241400-37299600	Strong transcription	Primary B cells from peripheral blood	blood
12	chr2:37242000-37287000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr2:37242200-37305800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
14	chr2:37246200-37283000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
15	chr2:37248800-37290200	Weak transcription	Psoas Muscle	Psoas
16	chr2:37249000-37291800	Weak transcription	H1 Cell Line	embryonic stem cell
17	chr2:37249000-37291800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr2:37253800-37289600	Weak transcription	Spleen	Spleen
19	chr2:37253800-37291000	Weak transcription	Aorta	Aorta
20	chr2:37253800-37310200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
21	chr2:37255200-37284400	Weak transcription	Ovary	ovary
22	chr2:37258400-37291800	Weak transcription	Esophagus	oesophagus
23	chr2:37263600-37285000	Weak transcription	Fetal Brain Male	brain
24	chr2:37263800-37289400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
25	chr2:37265400-37281600	Weak transcription	Sigmoid Colon	Sigmoid Colon
26	chr2:37266200-37291800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
27	chr2:37267600-37283200	Weak transcription	Brain Cingulate Gyrus	brain
28	chr2:37268000-37280200	Weak transcription	HUES48 Cell Line	embryonic stem cell
29	chr2:37268400-37283200	Weak transcription	HUVEC	blood vessel
30	chr2:37268600-37284000	Weak transcription	Stomach Mucosa	stomach
31	chr2:37272400-37306400	Strong transcription	Primary neutrophils fromperipheralblood	blood
32	chr2:37272600-37293800	Weak transcription	H9 Cell Line	embryonic stem cell
33	chr2:37272600-37299400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
34	chr2:37272600-37309800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr2:37274200-37308800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
36	chr2:37274400-37299200	Strong transcription	Primary T helper cells PMA-I stimulated	--
37	chr2:37274400-37309600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
38	chr2:37274800-37286400	Strong transcription	Primary B cells from cord blood	blood
39	chr2:37274800-37286400	Strong transcription	Fetal Thymus	thymus
40	chr2:37275000-37294800	Strong transcription	Duodenum Mucosa	Duodenum
41	chr2:37275200-37285600	Strong transcription	Primary T cells from cord blood	blood
42	chr2:37275200-37300200	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr2:37275200-37307000	Strong transcription	Adipose Nuclei	Adipose
44	chr2:37275400-37299400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr2:37275400-37309200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr2:37275600-37287400	Strong transcription	Placenta	Placenta
47	chr2:37276400-37296800	Strong transcription	Osteobl	bone
48	chr2:37276600-37287600	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
49	chr2:37276800-37280800	Strong transcription	Left Ventricle	heart
50	chr2:37276800-37281200	Strong transcription	Fetal Muscle Leg	muscle

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