Variant report

Variant	rs3770768
Chromosome Location	chr2:37346151-37346152
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	chr2:37311730..37314606-chr2:37345143..37347572,2	K562	blood:
2	chr2:37336683..37339266-chr2:37345698..37347982,2	K562	blood:

Extended variants
information (count: 43 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:41)

rs_ID	r²[population]
rs10048628	1.00[CHB][hapmap]
rs10167453	1.00[CHB][hapmap]
rs10177970	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10178975	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs10490656	1.00[CHB][hapmap]
rs10779921	1.00[JPT][hapmap]
rs11124575	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs12712530	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs13022403	1.00[JPT][hapmap]
rs13410628	0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[ASN][1000 genomes]
rs17332720	1.00[CHB][hapmap]
rs17498637	0.91[CEU][hapmap];1.00[CHB][hapmap];0.81[AMR][1000 genomes];0.84[EUR][1000 genomes]
rs17505250	0.82[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];1.00[MEX][hapmap];0.83[EUR][1000 genomes]
rs1861444	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2041837	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2041840	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2160391	1.00[JPT][hapmap]
rs2160395	1.00[CHB][hapmap]
rs2249965	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2300880	1.00[JPT][hapmap]
rs2372888	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs2430494	1.00[CHB][hapmap]
rs2540973	1.00[JPT][hapmap]
rs2540975	1.00[JPT][hapmap]
rs2540977	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs3845783	1.00[JPT][hapmap]
rs3845785	1.00[JPT][hapmap]
rs3902740	1.00[CHB][hapmap]
rs4648186	1.00[CHB][hapmap];0.91[GIH][hapmap];1.00[JPT][hapmap];0.87[ASN][1000 genomes]
rs4670193	1.00[JPT][hapmap]
rs4670671	1.00[JPT][hapmap]
rs4670678	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs4670686	1.00[JPT][hapmap]
rs4670687	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs56020915	0.83[EUR][1000 genomes]
rs6730503	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs7577081	1.00[CHB][hapmap]
rs7583355	1.00[JPT][hapmap]
rs759461	1.00[CHB][hapmap]
rs7605677	1.00[JPT][hapmap]
rs8243	1.00[CHB][hapmap];1.00[JPT][hapmap]

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
rs3770768	CCDC75	cis	parietal	SCAN

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37312200-37383200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:37313400-37361800	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr2:37314400-37347000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
4	chr2:37314600-37346800	Strong transcription	Primary T helper cells fromperipheralblood	blood
5	chr2:37315600-37367000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
6	chr2:37319000-37346600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
7	chr2:37319000-37347000	Strong transcription	Dnd41	blood
8	chr2:37319200-37377200	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr2:37320000-37346600	Strong transcription	Monocytes-CD14+_RO01746	blood
10	chr2:37320600-37368000	Strong transcription	Primary neutrophils fromperipheralblood	blood
11	chr2:37321600-37348600	Weak transcription	Colonic Mucosa	Colon
12	chr2:37322400-37352200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr2:37326800-37346600	Strong transcription	GM12878-XiMat	blood
14	chr2:37327000-37349200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
15	chr2:37328200-37349000	Weak transcription	Aorta	Aorta
16	chr2:37331200-37348800	Weak transcription	K562	blood
17	chr2:37331400-37346800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
18	chr2:37331600-37347200	Strong transcription	Primary B cells from peripheral blood	blood
19	chr2:37331600-37347400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr2:37332600-37346600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr2:37332600-37375200	Strong transcription	Liver	Liver
22	chr2:37332800-37346600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr2:37332800-37351200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
24	chr2:37333200-37379600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
25	chr2:37333400-37362400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr2:37333400-37366400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
27	chr2:37335600-37370400	Weak transcription	Fetal Heart	heart
28	chr2:37336400-37383200	Weak transcription	Psoas Muscle	Psoas
29	chr2:37336600-37352600	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr2:37336800-37349000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
31	chr2:37336800-37360000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
32	chr2:37337200-37353000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
33	chr2:37337400-37349000	Weak transcription	HSMMtube	muscle
34	chr2:37338400-37349000	Weak transcription	HMEC	breast
35	chr2:37339200-37346600	Strong transcription	Placenta	Placenta
36	chr2:37339200-37347600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr2:37339400-37346200	Weak transcription	Esophagus	oesophagus
38	chr2:37339800-37376800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr2:37340200-37348800	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr2:37340200-37350600	Weak transcription	Brain Angular Gyrus	brain
41	chr2:37341200-37352400	Weak transcription	NH-A	brain
42	chr2:37341600-37347400	Strong transcription	Primary T cells fromperipheralblood	blood
43	chr2:37341600-37369000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
44	chr2:37341800-37347400	Strong transcription	Fetal Thymus	thymus
45	chr2:37341800-37352200	Strong transcription	Fetal Muscle Leg	muscle
46	chr2:37342200-37346600	Strong transcription	Duodenum Smooth Muscle	Duodenum
47	chr2:37342200-37367800	Strong transcription	Fetal Stomach	stomach
48	chr2:37342400-37346600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr2:37342400-37346600	Strong transcription	Duodenum Mucosa	Duodenum
50	chr2:37342400-37346600	Strong transcription	Ovary	ovary

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