Variant report

Variant	rs748436
Chromosome Location	chr4:82381627-82381628
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:82381521..82383255-chr4:82777347..82779912,2	MCF-7	breast:
2	chr4:82337897..82339898-chr4:82380969..82382702,2	K562	blood:

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs1077802	1.00[GIH][hapmap];0.93[MEX][hapmap];0.95[TSI][hapmap];0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1077803	0.97[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs1562138	0.82[CHB][hapmap];0.86[CHD][hapmap];0.93[MEX][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs17005141	0.80[CHB][hapmap];0.87[JPT][hapmap]
rs2120817	0.92[CEU][hapmap];0.87[CHB][hapmap];0.82[CHD][hapmap];1.00[GIH][hapmap];0.87[JPT][hapmap];0.93[MEX][hapmap];0.97[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs28409763	0.96[AFR][1000 genomes];0.99[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs28464436	0.99[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs6814080	0.91[AMR][1000 genomes]
rs6839120	0.93[GIH][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.91[AMR][1000 genomes];0.80[EUR][1000 genomes]
rs6847612	0.82[CHB][hapmap];0.83[CHD][hapmap];0.93[GIH][hapmap];0.93[MEX][hapmap];0.90[TSI][hapmap];0.90[AMR][1000 genomes];0.81[ASN][1000 genomes]
rs755527	0.87[CHB][hapmap];0.81[JPT][hapmap];0.97[AMR][1000 genomes];0.89[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7670580	0.82[ASW][hapmap];0.81[LWK][hapmap];0.89[MKK][hapmap]
rs895086	0.81[CHB][hapmap]
rs9307783	0.83[CEU][hapmap];0.82[CHB][hapmap];0.86[CHD][hapmap];0.97[GIH][hapmap];0.82[JPT][hapmap];0.92[MEX][hapmap];0.95[TSI][hapmap];0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][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	nsv999729	chr4:81802554-82627820	Genic enhancers Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv537156	chr4:81802554-82627820	Flanking Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
3	nsv4404	chr4:82340986-82386148	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	1 gene(s)	inside rSNPs	diseases
4	nsv829986	chr4:82345163-82509860	Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Bivalent/Poised TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs748436	HPSE	cis	cerebellum	SCAN

Chromatin state (count:86 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:82345800-82385800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
2	chr4:82346600-82386600	Weak transcription	Psoas Muscle	Psoas
3	chr4:82346600-82388400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr4:82346800-82382400	Weak transcription	Fetal Muscle Trunk	muscle
5	chr4:82349000-82385200	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr4:82351800-82382800	Weak transcription	Spleen	Spleen
7	chr4:82352400-82390000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
8	chr4:82354200-82390800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
9	chr4:82361200-82382800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr4:82361400-82386600	Weak transcription	Fetal Kidney	kidney
11	chr4:82362200-82389800	Weak transcription	Fetal Brain Male	brain
12	chr4:82363600-82390400	Weak transcription	Fetal Muscle Leg	muscle
13	chr4:82363600-82391000	Weak transcription	Rectal Smooth Muscle	rectum
14	chr4:82368200-82391400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr4:82368800-82383000	Weak transcription	Colon Smooth Muscle	Colon
16	chr4:82369400-82390000	Weak transcription	Brain Germinal Matrix	brain
17	chr4:82369600-82382000	Weak transcription	Fetal Heart	heart
18	chr4:82369600-82388600	Weak transcription	Primary T helper naive cells from peripheral blood	blood
19	chr4:82369600-82391000	Weak transcription	Skeletal Muscle Male	skeletal muscle
20	chr4:82373600-82390000	Weak transcription	Thymus	Thymus
21	chr4:82374800-82385200	Weak transcription	HUES64 Cell Line	embryonic stem cell
22	chr4:82375000-82385400	Weak transcription	HUES48 Cell Line	embryonic stem cell
23	chr4:82375000-82386600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
24	chr4:82375200-82388400	Weak transcription	HUES6 Cell Line	embryonic stem cell
25	chr4:82375400-82386000	Weak transcription	Stomach Smooth Muscle	stomach
26	chr4:82375800-82386800	Weak transcription	H9 Cell Line	embryonic stem cell
27	chr4:82376000-82383200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
28	chr4:82376800-82382800	Weak transcription	Ovary	ovary
29	chr4:82377000-82384800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr4:82377000-82386600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr4:82377000-82388000	Weak transcription	Primary monocytes fromperipheralblood	blood
32	chr4:82377200-82385000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
33	chr4:82377200-82389000	Weak transcription	Primary hematopoietic stem cells	blood
34	chr4:82377400-82386400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
35	chr4:82377600-82383600	Strong transcription	Primary B cells from cord blood	blood
36	chr4:82377800-82390800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
37	chr4:82377800-82391000	Weak transcription	Dnd41	blood
38	chr4:82378200-82390000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
39	chr4:82378400-82382600	Enhancers	Brain Cingulate Gyrus	brain
40	chr4:82378600-82390800	Weak transcription	Fetal Stomach	stomach
41	chr4:82378800-82381800	Weak transcription	Aorta	Aorta
42	chr4:82378800-82382800	Weak transcription	Left Ventricle	heart
43	chr4:82378800-82388400	Weak transcription	Duodenum Smooth Muscle	Duodenum
44	chr4:82379000-82382200	Weak transcription	Stomach Mucosa	stomach
45	chr4:82379000-82391400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
46	chr4:82379200-82384200	Enhancers	Brain Hippocampus Middle	brain
47	chr4:82379800-82388400	Weak transcription	Fetal Lung	lung
48	chr4:82380000-82382800	Weak transcription	Colonic Mucosa	Colon
49	chr4:82380400-82383000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
50	chr4:82380400-82388400	Weak transcription	Monocytes-CD14+_RO01746	blood

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