Variant report

Variant	rs3821147
Chromosome Location	chr2:37010574-37010575
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	chr2:37008165..37009704-chr2:37010243..37012241,2	MCF-7	breast:

Extended variants
information (count: 20 )
Associated
traits (count: 4 )

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs11675969	1.00[CEU][hapmap];0.85[EUR][1000 genomes]
rs11677279	0.84[CEU][hapmap]
rs12987048	0.84[CEU][hapmap]
rs1558701	0.89[JPT][hapmap]
rs2041809	0.84[ASW][hapmap];0.88[CEU][hapmap];0.90[MEX][hapmap];0.85[TSI][hapmap];1.00[YRI][hapmap];0.95[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs2058683	0.89[JPT][hapmap];0.82[ASN][1000 genomes]
rs2072527	0.89[JPT][hapmap]
rs4670169	0.88[CEU][hapmap];1.00[GIH][hapmap];0.89[JPT][hapmap];0.84[MEX][hapmap];0.86[AMR][1000 genomes]
rs4670170	0.86[AMR][1000 genomes]
rs6544039	0.89[JPT][hapmap]
rs7606098	0.89[JPT][hapmap]
rs763724	0.89[JPT][hapmap]
rs879613	0.88[CHD][hapmap];1.00[JPT][hapmap]
rs879614	0.92[CEU][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[EUR][1000 genomes];0.82[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1007757	chr2:36838387-37011384	Weak transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv535643	chr2:36838387-37011384	Enhancers Active TSS Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	esv1821275	chr2:36991736-37018278	Active TSS Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:4)

SNP	Gene	Cis/trans	Tissue	Source
rs3821147	EIF2AK2	cis	cerebellum	SCAN
rs3821147	EIF2AK2	cis	parietal	SCAN
rs3821147	CGRRF1	trans	parietal	SCAN
rs3821147	QPCT	cis	lymphoblastoid	seeQTL

Chromatin state (count:31 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:37006000-37014600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:37007600-37012600	Weak transcription	Ovary	ovary
3	chr2:37007800-37012200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
4	chr2:37007800-37012200	Weak transcription	Liver	Liver
5	chr2:37007800-37012200	Weak transcription	Stomach Mucosa	stomach
6	chr2:37008200-37012200	Weak transcription	Fetal Heart	heart
7	chr2:37009000-37010800	Enhancers	Fetal Muscle Leg	muscle
8	chr2:37009400-37010800	Enhancers	Fetal Stomach	stomach
9	chr2:37009400-37010800	Enhancers	Right Atrium	heart
10	chr2:37009400-37011000	Enhancers	Fetal Kidney	kidney
11	chr2:37009600-37011200	Enhancers	Rectal Mucosa Donor 31	rectum
12	chr2:37009600-37011400	Weak transcription	H9 Cell Line	embryonic stem cell
13	chr2:37009600-37011400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
14	chr2:37009600-37011800	Weak transcription	HUES64 Cell Line	embryonic stem cell
15	chr2:37009800-37010600	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
16	chr2:37009800-37010600	Enhancers	Cortex derived primary cultured neurospheres	brain
17	chr2:37009800-37012400	Weak transcription	Duodenum Mucosa	Duodenum
18	chr2:37009800-37016200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr2:37010000-37010800	Enhancers	Adipose Nuclei	Adipose
20	chr2:37010000-37011400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
21	chr2:37010000-37011400	Weak transcription	H1 Cell Line	embryonic stem cell
22	chr2:37010000-37011400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr2:37010000-37012600	Weak transcription	Duodenum Smooth Muscle	Duodenum
24	chr2:37010000-37014000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
25	chr2:37010000-37016000	Weak transcription	Brain Anterior Caudate	brain
26	chr2:37010000-37021600	Weak transcription	Skeletal Muscle Male	skeletal muscle
27	chr2:37010200-37011400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr2:37010200-37011400	Weak transcription	HUES6 Cell Line	embryonic stem cell
29	chr2:37010200-37011600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
30	chr2:37010200-37011800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
31	chr2:37010400-37012200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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