Variant report

Variant	rs1437677
Chromosome Location	chr2:153528136-153528137
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr2:153525491..153528236-chr2:153536314..153538730,2	K562	blood:
2	chr2:153510920..153513801-chr2:153526345..153529241,2	K562	blood:
3	chr2:153521370..153524153-chr2:153528021..153529726,2	K562	blood:
4	chr2:153520935..153522870-chr2:153526915..153529726,2	K562	blood:

Extended variants
information (count: 19 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:15)

rs_ID	r²[population]
rs10169433	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10178613	0.88[EUR][1000 genomes]
rs10193713	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.90[EUR][1000 genomes]
rs13413144	1.00[YRI][hapmap];0.83[EUR][1000 genomes]
rs13419134	1.00[CEU][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[EUR][1000 genomes]
rs13427289	0.82[EUR][1000 genomes]
rs2450	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4664120	1.00[CEU][hapmap];0.86[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4664599	1.00[ASW][hapmap];0.95[CEU][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];0.96[TSI][hapmap];0.83[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs4664608	0.81[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs56191709	0.81[EUR][1000 genomes]
rs62179623	0.83[EUR][1000 genomes]
rs62179635	0.91[AFR][1000 genomes];0.83[EUR][1000 genomes]
rs62179636	1.00[AFR][1000 genomes];0.87[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9989874	0.90[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1013777	chr2:153273637-153538546	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
2	nsv834420	chr2:153339646-153535460	Weak transcription Flanking Active TSS Strong transcription Enhancers Genic enhancers ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	9 gene(s)	inside rSNPs	diseases
3	nsv834421	chr2:153470109-153664235	Strong transcription Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Active TSS Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
4	esv3693438	chr2:153505376-153718246	Strong transcription Weak transcription Active TSS Enhancers Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs1437677	ARL6IP6	cis	cerebellum	SCAN
rs1437677	NMI	cis	parietal	SCAN

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:153497000-153531800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr2:153501400-153531800	Weak transcription	Aorta	Aorta
3	chr2:153504400-153538200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
4	chr2:153505000-153540200	Strong transcription	Fetal Thymus	thymus
5	chr2:153505400-153539200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
6	chr2:153505400-153540200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr2:153505600-153534400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
8	chr2:153505600-153537000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:153505600-153538400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
10	chr2:153506000-153538000	Strong transcription	Liver	Liver
11	chr2:153506200-153539800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
12	chr2:153506200-153546800	Strong transcription	Monocytes-CD14+_RO01746	blood
13	chr2:153507000-153538400	Strong transcription	Primary T helper cells fromperipheralblood	blood
14	chr2:153507000-153541600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
15	chr2:153507200-153538200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
16	chr2:153507400-153530200	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr2:153508000-153542000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
18	chr2:153508000-153550800	Strong transcription	Primary monocytes fromperipheralblood	blood
19	chr2:153508200-153532800	Strong transcription	HSMM	muscle
20	chr2:153508200-153533600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
21	chr2:153508400-153537600	Strong transcription	Rectal Mucosa Donor 29	rectum
22	chr2:153508400-153537800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:153508400-153538000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
24	chr2:153508400-153538200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr2:153508400-153538400	Strong transcription	A549	lung
26	chr2:153508600-153529200	Strong transcription	Primary T cells from cord blood	blood
27	chr2:153508600-153539600	Strong transcription	Dnd41	blood
28	chr2:153508800-153535000	Strong transcription	Primary T cells fromperipheralblood	blood
29	chr2:153508800-153540400	Strong transcription	Primary hematopoietic stem cells	blood
30	chr2:153509000-153539600	Strong transcription	HUES64 Cell Line	embryonic stem cell
31	chr2:153509200-153551200	Strong transcription	HUES48 Cell Line	embryonic stem cell
32	chr2:153509400-153538400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr2:153509800-153535000	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr2:153509800-153540000	Strong transcription	Primary T helper cells PMA-I stimulated	--
35	chr2:153510000-153530200	Strong transcription	Muscle Satellite Cultured Cells	--
36	chr2:153510400-153539400	Strong transcription	HUES6 Cell Line	embryonic stem cell
37	chr2:153510400-153539600	Strong transcription	iPS-18 Cell Line	embryonic stem cell
38	chr2:153510400-153540200	Strong transcription	Primary B cells from peripheral blood	blood
39	chr2:153510600-153529800	Strong transcription	Stomach Smooth Muscle	stomach
40	chr2:153510600-153536000	Strong transcription	Fetal Intestine Large	intestine
41	chr2:153510600-153537800	Strong transcription	NH-A	brain
42	chr2:153510600-153539800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
43	chr2:153510600-153540800	Strong transcription	H1 Cell Line	embryonic stem cell
44	chr2:153510800-153538400	Strong transcription	Duodenum Mucosa	Duodenum
45	chr2:153511000-153537800	Strong transcription	Adipose Nuclei	Adipose
46	chr2:153511000-153538200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
47	chr2:153511000-153538600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
48	chr2:153511000-153539600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr2:153511600-153533800	Strong transcription	Skeletal Muscle Female	skeletal muscle
50	chr2:153511600-153538000	Strong transcription	Rectal Mucosa Donor 31	rectum

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