Variant report

Variant	rs17445820
Chromosome Location	chr2:37304369-37304370
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	chr2:37303145..37307773-chr2:37309967..37312516,4	MCF-7	breast:
2	chr2:37304349..37309005-chr2:37309804..37311828,5	K562	blood:

Variant related genes	Relation type
ENSG00000152133	Chromatin interaction
ENSG00000008869	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs1060957	0.96[CEU][hapmap];0.81[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs12620426	0.83[CEU][hapmap]
rs17020213	0.83[CEU][hapmap];0.94[JPT][hapmap];0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17498825	0.92[CEU][hapmap];0.91[CHB][hapmap];0.93[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2253629	0.83[CEU][hapmap];0.87[EUR][1000 genomes]
rs2254958	0.83[CEU][hapmap]
rs2287350	0.94[JPT][hapmap]
rs2540992	0.91[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.93[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2541008	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs2541009	0.96[CEU][hapmap];0.89[CHB][hapmap];0.97[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs4648174	0.95[JPT][hapmap]
rs66476568	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][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	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs17445820	CCDC75	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37221000-37307600	Weak transcription	Pancreatic Islets	Pancreatic Islet
2	chr2:37240400-37304800	Strong transcription	Primary T helper cells fromperipheralblood	blood
3	chr2:37240600-37306000	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
4	chr2:37240800-37306400	Strong transcription	Monocytes-CD14+_RO01746	blood
5	chr2:37240800-37307000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
6	chr2:37241200-37306000	Strong transcription	Primary monocytes fromperipheralblood	blood
7	chr2:37242200-37305800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
8	chr2:37253800-37310200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
9	chr2:37272400-37306400	Strong transcription	Primary neutrophils fromperipheralblood	blood
10	chr2:37272600-37309800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
11	chr2:37274200-37308800	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
12	chr2:37274400-37309600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr2:37275200-37307000	Strong transcription	Adipose Nuclei	Adipose
14	chr2:37275400-37309200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
15	chr2:37278600-37310800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr2:37279200-37309200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
17	chr2:37279400-37307600	Strong transcription	Fetal Intestine Large	intestine
18	chr2:37281800-37307200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
19	chr2:37282000-37308400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
20	chr2:37284600-37307200	Weak transcription	Stomach Mucosa	stomach
21	chr2:37287000-37305200	Strong transcription	Primary T cells from cord blood	blood
22	chr2:37287400-37309200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
23	chr2:37287600-37306000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:37287600-37309600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr2:37287800-37306600	Strong transcription	Primary B cells from cord blood	blood
26	chr2:37289000-37309400	Strong transcription	Fetal Thymus	thymus
27	chr2:37289400-37307600	Strong transcription	Fetal Muscle Trunk	muscle
28	chr2:37289800-37306400	Strong transcription	Brain Anterior Caudate	brain
29	chr2:37290000-37307400	Weak transcription	Fetal Heart	heart
30	chr2:37292200-37310200	Weak transcription	Colonic Mucosa	Colon
31	chr2:37292200-37310800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr2:37292400-37307000	Weak transcription	Small Intestine	intestine
33	chr2:37293000-37304400	Weak transcription	Aorta	Aorta
34	chr2:37293000-37307200	Weak transcription	Right Ventricle	heart
35	chr2:37293000-37309800	Weak transcription	Spleen	Spleen
36	chr2:37293200-37308400	Weak transcription	HSMMtube	muscle
37	chr2:37293400-37310400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
38	chr2:37293400-37310400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
39	chr2:37294000-37309200	Weak transcription	Fetal Brain Male	brain
40	chr2:37295600-37306200	Strong transcription	Primary hematopoietic stem cells	blood
41	chr2:37296200-37309600	Weak transcription	Rectal Smooth Muscle	rectum
42	chr2:37297400-37308400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr2:37297400-37310800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr2:37297600-37309200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
45	chr2:37297600-37310400	Weak transcription	Pancreas	Pancrea
46	chr2:37297600-37310800	Weak transcription	Lung	lung
47	chr2:37299000-37304600	Weak transcription	Brain Germinal Matrix	brain
48	chr2:37299200-37304400	Weak transcription	Fetal Intestine Small	intestine
49	chr2:37299200-37306400	Strong transcription	HSMM	muscle
50	chr2:37299400-37307200	Strong transcription	Primary hematopoietic stem cells short term culture	blood

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