Variant report

Variant	rs4243086
Chromosome Location	chr15:74697084-74697085
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr15:74681969..74683512-chr15:74696036..74698830,3	K562	blood:
2	chr15:74675668..74677716-chr15:74696370..74698662,2	MCF-7	breast:
3	chr15:74688657..74691908-chr15:74695060..74698552,3	K562	blood:
4	chr15:74688222..74690157-chr15:74695368..74697306,2	K562	blood:
5	chr15:74684231..74686824-chr15:74694888..74698763,3	K562	blood:
6	chr15:74694779..74697327-chr15:74724134..74726269,2	MCF-7	breast:
7	chr15:74696752..74700266-chr15:74701872..74704964,3	K562	blood:
8	chr15:74691943..74695030-chr15:74695154..74698186,3	MCF-7	breast:
9	chr15:74691243..74694304-chr15:74694483..74697655,3	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000138623	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:5)

rs_ID	r²[population]
rs12441582	1.00[CEU][hapmap];0.98[GIH][hapmap];0.95[MEX][hapmap];0.96[TSI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs5015024	0.85[GIH][hapmap];0.90[MEX][hapmap]
rs7175229	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.80[LWK][hapmap];1.00[MEX][hapmap];0.94[MKK][hapmap];0.96[TSI][hapmap];0.83[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs741761	0.84[MEX][hapmap]
rs885740	0.81[MEX][hapmap]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv428641	chr15:74555113-74724630	Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	34 gene(s)	inside rSNPs	diseases
2	nsv482615	chr15:74593625-74757962	Enhancers Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Strong transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	58 gene(s)	inside rSNPs	diseases
3	nsv904351	chr15:74638965-74697084	Weak transcription Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
4	nsv904352	chr15:74638965-74715205	Enhancers Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	23 gene(s)	inside rSNPs	diseases
5	nsv904353	chr15:74697084-74716609	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
6	nsv904354	chr15:74697084-74722924	Enhancers Genic enhancers Flanking Active TSS Strong transcription Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region miRNA	4 gene(s)	inside rSNPs	diseases
7	nsv904355	chr15:74697084-74728149	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases
8	nsv904356	chr15:74697084-74729603	Flanking Active TSS Enhancers Genic enhancers Weak transcription Active TSS Strong transcription Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA	11 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs4243086	NRG4	cis	parietal	SCAN
rs4243086	SEMA7A	cis	cerebellum	SCAN

Chromatin state (count:84 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr15:74685400-74699400	Weak transcription	Brain Substantia Nigra	brain
2	chr15:74688000-74699000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr15:74689400-74702400	Weak transcription	Gastric	stomach
4	chr15:74689600-74698000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
5	chr15:74691800-74697200	Flanking Active TSS	GM12878-XiMat	blood
6	chr15:74692000-74701200	Enhancers	Spleen	Spleen
7	chr15:74692800-74698000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr15:74693600-74699200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
9	chr15:74693600-74701600	Enhancers	Fetal Adrenal Gland	Adrenal Gland
10	chr15:74693800-74698600	Weak transcription	Breast Myoepithelial Primary Cells	Breast
11	chr15:74693800-74698800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
12	chr15:74693800-74699000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
13	chr15:74693800-74700000	Weak transcription	Esophagus	oesophagus
14	chr15:74694000-74698000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr15:74694000-74698800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
16	chr15:74694000-74699000	Weak transcription	HUES64 Cell Line	embryonic stem cell
17	chr15:74694000-74699000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
18	chr15:74694000-74699200	Weak transcription	H1 Cell Line	embryonic stem cell
19	chr15:74694000-74699400	Weak transcription	HUES6 Cell Line	embryonic stem cell
20	chr15:74694200-74698000	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr15:74694200-74699000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
22	chr15:74694200-74699000	Weak transcription	Hela-S3	cervix
23	chr15:74694400-74697400	Enhancers	Fetal Brain Male	brain
24	chr15:74694400-74699000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
25	chr15:74695000-74697200	Genic enhancers	HSMM	muscle
26	chr15:74695400-74697200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr15:74695800-74699200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
28	chr15:74696000-74698800	Weak transcription	NHEK	skin
29	chr15:74696000-74699200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr15:74696000-74700400	Enhancers	Ovary	ovary
31	chr15:74696200-74697200	Genic enhancers	NH-A	brain
32	chr15:74696200-74698600	Weak transcription	HMEC	breast
33	chr15:74696200-74699000	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
34	chr15:74696200-74700000	Enhancers	Primary B cells from peripheral blood	blood
35	chr15:74696200-74702600	Weak transcription	Lung	lung
36	chr15:74696200-74710400	Weak transcription	Sigmoid Colon	Sigmoid Colon
37	chr15:74696200-74711400	Weak transcription	Skeletal Muscle Female	skeletal muscle
38	chr15:74696200-74712600	Weak transcription	Right Atrium	heart
39	chr15:74696400-74697200	Enhancers	Primary hematopoietic stem cells	blood
40	chr15:74696400-74697200	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr15:74696400-74697200	Enhancers	Fetal Kidney	kidney
42	chr15:74696400-74699000	Weak transcription	Brain Angular Gyrus	brain
43	chr15:74696400-74700600	Enhancers	Primary hematopoietic stem cells short term culture	blood
44	chr15:74696400-74702400	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
45	chr15:74696400-74707000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr15:74696400-74712200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr15:74696600-74698800	Strong transcription	Placenta	Placenta
48	chr15:74696600-74699800	Enhancers	Fetal Thymus	thymus
49	chr15:74696600-74703600	Weak transcription	Rectal Smooth Muscle	rectum
50	chr15:74696600-74706200	Weak transcription	Primary T cells from cord blood	blood

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