Variant report

Variant	rs848617
Chromosome Location	chr2:36811298-36811299
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	MYC	chr2:36811279-36811368	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:36809435..36813840-chr2:36817141..36820574,5	K562	blood:
2	chr2:36810053..36812056-chr2:36823147..36825466,2	K562	blood:

Variant related genes	Relation type
FEZ2	TF binding region
ENSG00000171055	Chromatin interaction
ENSG00000256845	Chromatin interaction

Extended variants
information (count: 41 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs10180760	0.89[CHB][hapmap]
rs10197570	0.94[CHB][hapmap];0.87[JPT][hapmap];0.91[ASN][1000 genomes]
rs10210291	0.84[CHB][hapmap]
rs10469897	1.00[CHB][hapmap];0.83[JPT][hapmap];0.88[ASN][1000 genomes]
rs10469898	1.00[CHB][hapmap];0.87[JPT][hapmap];0.90[ASN][1000 genomes]
rs1179494	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11899523	0.92[EUR][1000 genomes]
rs12712508	0.82[CHB][hapmap]
rs1533946	0.89[CHB][hapmap]
rs1533948	0.89[CHB][hapmap]
rs17019087	0.83[CHB][hapmap]
rs2022211	0.94[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs2072533	0.93[ASN][1000 genomes]
rs2072534	0.94[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs2072535	1.00[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs2075226	0.94[CHB][hapmap];0.87[JPT][hapmap];0.93[ASN][1000 genomes]
rs2110986	0.93[ASN][1000 genomes]
rs2160404	0.89[CHB][hapmap]
rs2276671	0.82[CEU][hapmap]
rs34392255	0.93[ASN][1000 genomes]
rs34425257	0.89[CHB][hapmap];0.87[JPT][hapmap];0.87[ASN][1000 genomes]
rs3770788	0.93[ASN][1000 genomes]
rs3770796	0.92[EUR][1000 genomes]
rs3770797	0.88[CHB][hapmap];0.83[JPT][hapmap];0.81[ASN][1000 genomes]
rs3770809	0.89[CHB][hapmap]
rs3770811	0.89[CHB][hapmap]
rs3770818	0.87[CEU][hapmap];0.81[EUR][1000 genomes]
rs3821150	0.91[CEU][hapmap];0.89[EUR][1000 genomes]
rs55700228	0.93[ASN][1000 genomes]
rs57670037	0.82[ASN][1000 genomes]
rs6728602	0.90[ASN][1000 genomes]
rs7570763	1.00[CEU][hapmap];0.92[EUR][1000 genomes]
rs848603	0.89[CHB][hapmap]
rs848605	0.89[CHB][hapmap]
rs848607	0.89[CHB][hapmap]
rs848642	0.91[CEU][hapmap];0.87[EUR][1000 genomes]
rs848643	0.91[CEU][hapmap];0.89[CHB][hapmap];0.93[JPT][hapmap];0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs981355	0.89[CHB][hapmap]
rs9917316	0.89[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	nsv1010985	chr2:36707157-36942066	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
2	nsv535642	chr2:36707157-36942066	Genic enhancers Enhancers Weak transcription Active TSS Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs848617	FEZ2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr2:36790200-36818000	Strong transcription	Fetal Intestine Large	intestine
3	chr2:36790800-36812000	Weak transcription	H1 Cell Line	embryonic stem cell
4	chr2:36792200-36824200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr2:36792800-36811400	Strong transcription	Primary monocytes fromperipheralblood	blood
6	chr2:36793200-36816600	Strong transcription	Monocytes-CD14+_RO01746	blood
7	chr2:36796000-36818000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr2:36796800-36818200	Weak transcription	Brain Substantia Nigra	brain
9	chr2:36797000-36814200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr2:36797800-36813400	Strong transcription	Primary B cells from peripheral blood	blood
11	chr2:36798000-36818200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
12	chr2:36798200-36818000	Strong transcription	Rectal Mucosa Donor 29	rectum
13	chr2:36798400-36818600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr2:36799200-36812800	Strong transcription	Duodenum Mucosa	Duodenum
15	chr2:36799200-36817400	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr2:36799200-36818000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
17	chr2:36799200-36818200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
18	chr2:36799200-36819200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
19	chr2:36799200-36822600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr2:36799400-36812800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
21	chr2:36799800-36818000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr2:36800200-36814400	Strong transcription	Primary hematopoietic stem cells	blood
23	chr2:36800200-36817600	Strong transcription	Liver	Liver
24	chr2:36801000-36817800	Strong transcription	HUVEC	blood vessel
25	chr2:36801400-36813200	Strong transcription	Fetal Lung	lung
26	chr2:36801600-36818000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
27	chr2:36801600-36818000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr2:36801800-36812200	Strong transcription	Fetal Thymus	thymus
29	chr2:36801800-36813800	Strong transcription	Fetal Muscle Leg	muscle
30	chr2:36801800-36814600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
31	chr2:36801800-36816200	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
32	chr2:36801800-36817200	Strong transcription	Sigmoid Colon	Sigmoid Colon
33	chr2:36801800-36818400	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
34	chr2:36802000-36818000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
35	chr2:36802000-36823800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr2:36802400-36815200	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:36802800-36811400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:36802800-36812400	Strong transcription	NH-A	brain
39	chr2:36803200-36813400	Strong transcription	Primary T cells fromperipheralblood	blood
40	chr2:36803400-36812000	Strong transcription	HMEC	breast
41	chr2:36803600-36818000	Strong transcription	Dnd41	blood
42	chr2:36803800-36811400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
43	chr2:36803800-36814600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr2:36804400-36812400	Strong transcription	Adipose Nuclei	Adipose
45	chr2:36804400-36812800	Strong transcription	Duodenum Smooth Muscle	Duodenum
46	chr2:36804600-36814000	Strong transcription	Fetal Muscle Trunk	muscle
47	chr2:36804600-36814200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr2:36804600-36814800	Strong transcription	Primary B cells from cord blood	blood
49	chr2:36805000-36811400	Strong transcription	K562	blood
50	chr2:36805000-36812000	Strong transcription	NHDF-Ad	bronchial

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