Variant report

Variant	rs28432929
Chromosome Location	chr7:32997523-32997524
allele	C/T
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:26)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:26 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:32995811..32998630-chr7:33147873..33150650,5	MCF-7	breast:
2	chr7:32928752..32933141-chr7:32994641..32998863,8	K562	blood:
3	chr22:50963472..50964178-chr7:32996987..32997953,2	Hela-S3	cervix:
4	chr7:32929839..32934078-chr7:32995806..32999171,10	MCF-7	breast:
5	chr7:32929772..32933437-chr7:32994773..32998551,6	MCF-7	breast:
6	chr10:71389270..71390191-chr7:32997343..32997869,2	HCT-116	colon:
7	chr6:2857804..2858647-chr7:32997103..32997825,2	Hela-S3	cervix:
8	chr20:46129538..46131406-chr7:32995757..32997764,2	MCF-7	breast:
9	chr7:32997465..32998398-chr9:139304529..139305102,2	Hela-S3	cervix:
10	chr1:205600552..205601275-chr7:32996850..32997837,2	Hela-S3	cervix:
11	chr7:32929936..32932175-chr7:32996897..32998446,2	K562	blood:
12	chr7:32996766..32998569-chr7:33027965..33030293,2	K562	blood:
13	chr7:32996658..32997591-chrX:23685231..23685895,2	Hela-S3	cervix:
14	chr7:32982709..32984575-chr7:32997023..32999117,2	K562	blood:
15	chr11:64684613..64685147-chr7:32997032..32997702,2	Hela-S3	cervix:
16	chr7:32981007..32984575-chr7:32996149..32999305,3	K562	blood:
17	chr7:32995362..32998530-chr7:33097317..33102837,7	MCF-7	breast:
18	chr3:156877587..156878503-chr7:32996960..32997569,2	Hela-S3	cervix:
19	chr7:32997056..32997696-chrX:117479336..117480081,2	Hela-S3	cervix:
20	chr1:45986841..45987635-chr7:32997004..32997876,2	Hela-S3	cervix:
21	chr10:75006603..75007307-chr7:32996922..32997554,2	Hela-S3	cervix:
22	chr12:133264247..133264748-chr7:32996931..32997630,2	Hela-S3	cervix:
23	chr6:159270909..159271734-chr7:32997213..32997774,2	Hela-S3	cervix:
24	chr6:97371814..97372480-chr7:32997365..32997998,2	Hela-S3	cervix:
25	chr7:32989735..32994052-chr7:32995992..32998490,3	MCF-7	breast:
26	chr7:32982489..32988008-chr7:32995538..32999914,10	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000164610	Chromatin interaction
ENSG00000117450	Chromatin interaction
ENSG00000205763	Chromatin interaction
ENSG00000236756	Chromatin interaction
ENSG00000110046	Chromatin interaction
ENSG00000131725	Chromatin interaction
ENSG00000165689	Chromatin interaction
ENSG00000224573	Chromatin interaction
ENSG00000122642	Chromatin interaction
ENSG00000163660	Chromatin interaction
ENSG00000171224	Chromatin interaction
ENSG00000122643	Chromatin interaction
ENSG00000256632	Chromatin interaction
ENSG00000123131	Chromatin interaction
ENSG00000124151	Chromatin interaction
ENSG00000170852	Chromatin interaction
ENSG00000068971	Chromatin interaction
ENSG00000130489	Chromatin interaction
ENSG00000158711	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10251280	0.97[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10252042	0.95[CEU][hapmap];0.82[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.96[TSI][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10255445	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10259453	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs10266139	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13437907	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13438351	0.82[CHB][hapmap]
rs17468799	0.83[CHD][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs17469596	0.83[CHD][hapmap];0.86[GIH][hapmap]
rs28882699	1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2893441	0.83[CHD][hapmap];0.86[GIH][hapmap];1.00[LWK][hapmap];1.00[YRI][hapmap]
rs4720087	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4720088	0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4723227	0.90[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs60403301	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62467426	0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs62467427	0.96[AMR][1000 genomes];0.98[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73103724	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1029220	chr7:32921484-33262190	ZNF genes & repeats Weak transcription Active TSS Flanking Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
2	esv3478254	chr7:32956181-33133477	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
3	esv3478255	chr7:32956181-33133477	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv3528603	chr7:32956254-33133429	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
5	esv3528604	chr7:32956254-33133429	Strong transcription Enhancers Active TSS Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
6	esv3366191	chr7:32956659-33134592	Enhancers Strong transcription Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
7	nsv1033096	chr7:32965040-33039206	Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
8	esv3418466	chr7:32968130-33138898	Flanking Active TSS Bivalent Enhancer Active TSS Enhancers Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
9	esv3354398	chr7:32996277-32998775	Enhancers Active TSS Flanking Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Weak transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

mRNA abundance (count:2)

SNP	Gene	Cis/trans	Tissue	Source
rs28432929	RP9P	cis	lung	GTEx
rs28432929	FKBP9	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:123 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:32996000-32997600	Active TSS	Rectal Mucosa Donor 29	rectum
2	chr7:32996200-32997600	Bivalent/Poised TSS	iPS-18 Cell Line	embryonic stem cell
3	chr7:32996200-32997600	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
4	chr7:32996200-32997600	Active TSS	Skeletal Muscle Male	skeletal muscle
5	chr7:32996200-32997800	Flanking Bivalent TSS/Enh	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:32996200-32997800	Active TSS	Rectal Mucosa Donor 31	rectum
7	chr7:32996200-32997800	Active TSS	Hela-S3	cervix
8	chr7:32996200-32998000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
9	chr7:32996200-32998000	Active TSS	Breast Myoepithelial Primary Cells	Breast
10	chr7:32996200-32998000	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr7:32996200-32998000	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
12	chr7:32996200-32998000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
13	chr7:32996200-32998000	Active TSS	Fetal Lung	lung
14	chr7:32996200-32998000	Active TSS	NH-A	brain
15	chr7:32996200-32998200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
16	chr7:32996200-32998200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
17	chr7:32996200-32998200	Active TSS	Muscle Satellite Cultured Cells	--
18	chr7:32996200-32998200	Active TSS	HSMM	muscle
19	chr7:32996200-32998400	Active TSS	Rectal Smooth Muscle	rectum
20	chr7:32996200-32998400	Active TSS	HSMMtube	muscle
21	chr7:32996200-32998600	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
22	chr7:32996200-32998600	Active TSS	A549	lung
23	chr7:32996400-32997600	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
24	chr7:32996400-32997600	Active TSS	Brain Anterior Caudate	brain
25	chr7:32996400-32997600	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
26	chr7:32996400-32997600	Active TSS	Stomach Smooth Muscle	stomach
27	chr7:32996400-32997800	Active TSS	Fetal Intestine Small	intestine
28	chr7:32996400-32997800	Active TSS	Fetal Stomach	stomach
29	chr7:32996400-32997800	Active TSS	HepG2	liver
30	chr7:32996400-32998000	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
31	chr7:32996400-32998000	Active TSS	Colonic Mucosa	Colon
32	chr7:32996400-32998000	Active TSS	Fetal Intestine Large	intestine
33	chr7:32996400-32998000	Active TSS	Osteobl	bone
34	chr7:32996400-32998200	Active TSS	ES-WA7 Cell Line	embryonic stem cell
35	chr7:32996400-32998200	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
36	chr7:32996400-32998200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
37	chr7:32996400-32998400	Active TSS	Pancreatic Islets	Pancreatic Islet
38	chr7:32996600-32997600	Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
39	chr7:32996600-32997600	Bivalent/Poised TSS	HUES6 Cell Line	embryonic stem cell
40	chr7:32996600-32997600	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:32996600-32997600	Flanking Bivalent TSS/Enh	Primary T helper cells fromperipheralblood	blood
42	chr7:32996600-32997600	Active TSS	Brain Angular Gyrus	brain
43	chr7:32996600-32997600	Active TSS	Brain Hippocampus Middle	brain
44	chr7:32996600-32997600	Active TSS	Brain Inferior Temporal Lobe	brain
45	chr7:32996600-32997600	Active TSS	Brain Substantia Nigra	brain
46	chr7:32996600-32997600	Active TSS	Colon Smooth Muscle	Colon
47	chr7:32996600-32997600	Active TSS	GM12878-XiMat	blood
48	chr7:32996600-32997600	Active TSS	HUVEC	blood vessel
49	chr7:32996600-32997600	Active TSS	K562	blood
50	chr7:32996600-32997600	Active TSS	NHEK	skin

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