Variant report

Variant	rs848515
Chromosome Location	chr2:36767257-36767258
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	chr2:36763939..36768189-chr2:36769601..36773260,6	K562	blood:
2	chr2:36763869..36766719-chr2:36767106..36769218,2	MCF-7	breast:

Extended variants
information (count: 15 )
Associated
traits (count: 5 )

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs10178002	0.80[EUR][1000 genomes]
rs11891876	0.90[ASW][hapmap];1.00[JPT][hapmap]
rs13429624	1.00[JPT][hapmap]
rs2270333	0.95[CEU][hapmap];0.88[EUR][1000 genomes]
rs711247	1.00[JPT][hapmap]
rs848520	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs848524	1.00[CHD][hapmap];1.00[JPT][hapmap]
rs848525	1.00[JPT][hapmap]
rs848526	1.00[CHD][hapmap]
rs848604	0.87[CEU][hapmap];1.00[JPT][hapmap];0.86[AFR][1000 genomes];0.90[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs848608	1.00[JPT][hapmap];0.85[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs848621	0.90[ASW][hapmap];1.00[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.80[MKK][hapmap];0.89[TSI][hapmap];0.80[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs848637	0.90[ASW][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.89[TSI][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	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:5)

SNP	Gene	Cis/trans	Tissue	Source
rs848515	FEZ2	cis	parietal	SCAN
rs848515	CRIM1	cis	cerebellum	SCAN
rs848515	FEZ2	cis	multi-tissue	Pritchard
rs848515	FEZ2	cis	Whole Blood	GTEx
rs848515	FAM82A1	cis	cerebellum	SCAN

Chromatin state (count:112 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:36713800-36789600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr2:36729600-36790200	Weak transcription	Small Intestine	intestine
3	chr2:36733200-36774200	Weak transcription	Fetal Thymus	thymus
4	chr2:36739000-36778200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
5	chr2:36747800-36768800	Weak transcription	Colonic Mucosa	Colon
6	chr2:36747800-36774200	Weak transcription	Liver	Liver
7	chr2:36750800-36783200	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr2:36751000-36824200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:36751200-36774200	Weak transcription	Psoas Muscle	Psoas
10	chr2:36752000-36776000	Weak transcription	Primary T helper cells PMA-I stimulated	--
11	chr2:36753800-36782600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
12	chr2:36756400-36767400	Weak transcription	Primary T cells from cord blood	blood
13	chr2:36756400-36769600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
14	chr2:36757600-36769200	Strong transcription	Placenta	Placenta
15	chr2:36758000-36778400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
16	chr2:36758200-36768200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
17	chr2:36758200-36771000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr2:36758400-36774200	Weak transcription	Primary B cells from peripheral blood	blood
19	chr2:36758400-36779200	Weak transcription	Brain Angular Gyrus	brain
20	chr2:36758600-36770600	Weak transcription	Monocytes-CD14+_RO01746	blood
21	chr2:36760000-36782000	Weak transcription	Brain Inferior Temporal Lobe	brain
22	chr2:36760600-36769400	Weak transcription	Fetal Kidney	kidney
23	chr2:36762000-36769200	Weak transcription	Primary neutrophils fromperipheralblood	blood
24	chr2:36762400-36783200	Strong transcription	HUES64 Cell Line	embryonic stem cell
25	chr2:36762800-36783800	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
26	chr2:36763000-36768600	Strong transcription	Adipose Nuclei	Adipose
27	chr2:36763000-36778600	Genic enhancers	HUVEC	blood vessel
28	chr2:36763200-36768600	Strong transcription	Fetal Intestine Small	intestine
29	chr2:36763200-36769600	Strong transcription	Fetal Muscle Leg	muscle
30	chr2:36763200-36770200	Strong transcription	Fetal Stomach	stomach
31	chr2:36763200-36773000	Strong transcription	HSMMtube	muscle
32	chr2:36763200-36784200	Strong transcription	HepG2	liver
33	chr2:36763200-36785200	Strong transcription	Rectal Mucosa Donor 29	rectum
34	chr2:36763600-36768800	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr2:36763600-36769000	Strong transcription	Fetal Lung	lung
36	chr2:36763600-36779200	Strong transcription	Primary B cells from cord blood	blood
37	chr2:36763600-36779800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
38	chr2:36763800-36773000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
39	chr2:36764000-36769400	Strong transcription	Hela-S3	cervix
40	chr2:36764000-36774600	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
41	chr2:36764000-36790200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
42	chr2:36764200-36770200	Strong transcription	Fetal Muscle Trunk	muscle
43	chr2:36764200-36783400	Strong transcription	HUES6 Cell Line	embryonic stem cell
44	chr2:36764200-36783800	Strong transcription	Fetal Intestine Large	intestine
45	chr2:36764400-36769800	Genic enhancers	A549	lung
46	chr2:36764400-36770000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
47	chr2:36764400-36770000	Strong transcription	Duodenum Mucosa	Duodenum
48	chr2:36764400-36770000	Strong transcription	Ovary	ovary
49	chr2:36764400-36770200	Enhancers	Fetal Heart	heart
50	chr2:36764400-36773600	Strong transcription	Sigmoid Colon	Sigmoid Colon

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