Variant report

Variant	rs7119617
Chromosome Location	chr11:85374025-85374026
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	chr11:85373065..85375528-chr11:88070607..88072114,2	K562	blood:
2	chr11:85372288..85375071-chr11:85778441..85780061,2	MCF-7	breast:
3	chr11:85371590..85374337-chr11:85533761..85535613,2	MCF-7	breast:
4	chr11:85335097..85341629-chr11:85372332..85377145,15	MCF-7	breast:
5	chr11:85373957..85377643-chr11:85392159..85394287,3	K562	blood:
6	chr11:85337740..85341959-chr11:85373645..85377756,6	MCF-7	breast:
7	chr11:85372316..85374513-chr11:85398515..85401514,2	K562	blood:
8	chr11:85373450..85376919-chr11:85429977..85433486,3	K562	blood:
9	chr11:85371938..85377336-chr11:85519037..85522510,5	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000109861	Chromatin interaction
ENSG00000150672	Chromatin interaction
ENSG00000073921	Chromatin interaction
ENSG00000137504	Chromatin interaction
ENSG00000137501	Chromatin interaction
ENSG00000171204	Chromatin interaction

Extended variants
information (count: 95 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:89)

rs_ID	r²[population]
rs1046216	0.89[ASW][hapmap];0.96[YRI][hapmap]
rs10501595	1.00[CHB][hapmap];0.94[JPT][hapmap];0.93[ASN][1000 genomes]
rs11234359	0.95[CHB][hapmap];0.87[JPT][hapmap]
rs11600919	0.90[AFR][1000 genomes]
rs11603256	0.82[ASW][hapmap];0.82[YRI][hapmap]
rs11604028	0.82[ASN][1000 genomes]
rs11820071	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1192	0.80[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.90[MEX][hapmap];0.82[AMR][1000 genomes];0.82[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1214001	0.80[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.94[GIH][hapmap];1.00[JPT][hapmap];0.95[MEX][hapmap];0.89[TSI][hapmap];0.88[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1237203	0.83[ASW][hapmap];0.85[YRI][hapmap]
rs12417341	0.94[ASN][1000 genomes]
rs12419172	0.90[CEU][hapmap];0.97[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.84[MEX][hapmap];0.83[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1354397	0.95[CHB][hapmap]
rs17148254	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs17148293	0.97[AFR][1000 genomes];0.97[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17148306	0.86[AFR][1000 genomes];0.95[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs17208492	1.00[CHB][hapmap];0.84[CHD][hapmap];0.90[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.94[ASN][1000 genomes]
rs17208519	1.00[CHB][hapmap];0.94[JPT][hapmap];0.94[ASN][1000 genomes]
rs17810659	1.00[CHB][hapmap];0.93[JPT][hapmap];0.90[ASN][1000 genomes]
rs188311	0.90[CHB][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap]
rs1892872	0.94[CHB][hapmap];0.93[JPT][hapmap];0.93[ASN][1000 genomes]
rs1991923	0.90[CHB][hapmap];0.87[CHD][hapmap];0.97[GIH][hapmap];0.93[JPT][hapmap];0.89[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2162055	0.89[ASN][1000 genomes]
rs2196168	0.94[ASW][hapmap];0.86[LWK][hapmap];0.96[YRI][hapmap];0.82[AFR][1000 genomes]
rs2290823	0.88[ASW][hapmap];0.90[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.94[JPT][hapmap];0.93[LWK][hapmap];1.00[MEX][hapmap];0.97[MKK][hapmap];0.84[TSI][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2467059	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs286499	0.94[CHB][hapmap]
rs290175	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs290177	1.00[CHB][hapmap];0.87[JPT][hapmap];0.83[ASN][1000 genomes]
rs290178	0.85[ASN][1000 genomes]
rs290182	0.80[CEU][hapmap];1.00[CHB][hapmap];0.94[JPT][hapmap];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs290183	0.87[AFR][1000 genomes]
rs290184	0.94[ASW][hapmap];0.90[LWK][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs290185	0.83[ASW][hapmap];0.90[YRI][hapmap]
rs290186	1.00[CHB][hapmap];0.94[CHD][hapmap];0.88[JPT][hapmap];0.89[ASN][1000 genomes]
rs290194	0.90[CHB][hapmap];0.88[JPT][hapmap]
rs290196	0.90[CHB][hapmap];0.88[JPT][hapmap];0.82[YRI][hapmap]
rs290199	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs35844123	0.93[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs370385	0.89[YRI][hapmap]
rs3753050	0.94[ASW][hapmap];0.83[LWK][hapmap];0.96[YRI][hapmap];0.90[AFR][1000 genomes]
rs3817087	0.81[AFR][1000 genomes]
rs3824956	0.94[ASW][hapmap];0.86[LWK][hapmap];0.96[YRI][hapmap];0.92[AFR][1000 genomes]
rs3862782	0.94[ASW][hapmap];0.81[LWK][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs4280023	0.81[ASN][1000 genomes]
rs4943925	1.00[CHB][hapmap];0.93[JPT][hapmap];0.94[ASN][1000 genomes]
rs4944527	0.92[ASN][1000 genomes]
rs4944529	1.00[CHB][hapmap];0.84[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.91[ASN][1000 genomes]
rs4944531	0.90[CEU][hapmap];1.00[CHB][hapmap];0.94[CHD][hapmap];0.97[GIH][hapmap];0.94[JPT][hapmap];0.90[MEX][hapmap];0.84[TSI][hapmap];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4944532	0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs497698	0.87[ASN][1000 genomes]
rs510948	0.82[JPT][hapmap]
rs537266	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs537604	0.82[JPT][hapmap]
rs55739259	0.81[ASN][1000 genomes]
rs56073783	0.83[ASN][1000 genomes]
rs56579	1.00[CHB][hapmap];1.00[CHD][hapmap];0.88[JPT][hapmap];0.86[ASN][1000 genomes]
rs56737296	0.81[ASN][1000 genomes]
rs57223077	0.83[ASN][1000 genomes]
rs573766	0.89[CHB][hapmap];0.84[JPT][hapmap]
rs578324	0.85[CHB][hapmap];0.88[JPT][hapmap]
rs58152312	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs583122	0.85[CHB][hapmap];0.87[JPT][hapmap]
rs58931064	0.83[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs592712	0.82[JPT][hapmap]
rs60838923	0.86[ASN][1000 genomes]
rs609012	0.82[JPT][hapmap]
rs61286868	0.82[ASN][1000 genomes]
rs613973	0.87[CHB][hapmap];0.92[JPT][hapmap]
rs650036	0.88[JPT][hapmap]
rs653559	0.82[CHD][hapmap];0.88[JPT][hapmap]
rs6592252	0.90[ASN][1000 genomes]
rs6592253	0.90[ASN][1000 genomes]
rs681044	0.82[JPT][hapmap]
rs688741	0.88[JPT][hapmap]
rs7107788	0.94[ASW][hapmap];0.83[LWK][hapmap];0.96[YRI][hapmap];0.89[AFR][1000 genomes]
rs7108132	0.90[ASN][1000 genomes]
rs7108137	0.83[ASN][1000 genomes]
rs7115250	0.92[ASN][1000 genomes]
rs7116195	0.94[ASW][hapmap];0.86[LWK][hapmap];0.96[YRI][hapmap];0.91[AFR][1000 genomes]
rs7939217	0.87[ASN][1000 genomes]
rs7943586	0.88[ASW][hapmap];1.00[CHB][hapmap];0.91[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.88[LWK][hapmap];0.90[MEX][hapmap];0.95[MKK][hapmap];0.96[YRI][hapmap];0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs7948778	1.00[CHB][hapmap];0.82[YRI][hapmap]
rs881120	0.93[YRI][hapmap]
rs881121	1.00[CHB][hapmap];0.87[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.92[ASN][1000 genomes]
rs947861	1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.80[MEX][hapmap];0.93[ASN][1000 genomes]
rs947862	0.93[ASN][1000 genomes]
rs947863	1.00[CHB][hapmap];0.88[CHD][hapmap];0.94[GIH][hapmap];0.94[JPT][hapmap];0.85[MEX][hapmap];0.93[ASN][1000 genomes]
rs956202	0.82[YRI][hapmap]

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	nsv1051155	chr11:85006564-85721261	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv541110	chr11:85006564-85721261	Enhancers Strong transcription Weak transcription Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
3	nsv898047	chr11:85180409-85377707	Weak transcription Flanking Active TSS ZNF genes & repeats Strong transcription Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
4	esv2758279	chr11:85180480-85603988	Flanking Active TSS Active TSS Weak transcription Enhancers Genic enhancers Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
5	esv2759845	chr11:85180480-85603988	Flanking Active TSS Weak transcription Enhancers Genic enhancers Active TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	56 gene(s)	inside rSNPs	diseases
6	nsv898048	chr11:85206156-85404138	Flanking Active TSS Genic enhancers Active TSS Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	33 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7119617	CCDC89	cis	cerebellum	SCAN

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:85360400-85374200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
2	chr11:85362600-85374200	Weak transcription	Spleen	Spleen
3	chr11:85369400-85374200	Weak transcription	Stomach Mucosa	stomach
4	chr11:85370400-85374400	Transcr. at gene 5' and 3'	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
5	chr11:85370400-85374400	Transcr. at gene 5' and 3'	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr11:85370800-85374800	Transcr. at gene 5' and 3'	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
7	chr11:85371400-85374400	Transcr. at gene 5' and 3'	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr11:85371600-85375200	Transcr. at gene 5' and 3'	Dnd41	blood
9	chr11:85371800-85374400	Transcr. at gene 5' and 3'	HUES64 Cell Line	embryonic stem cell
10	chr11:85371800-85374600	Transcr. at gene 5' and 3'	Primary hematopoietic stem cells short term culture	blood
11	chr11:85372000-85374400	Transcr. at gene 5' and 3'	iPS-20b Cell Line	embryonic stem cell
12	chr11:85372000-85374800	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
13	chr11:85372000-85375000	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr11:85372000-85375200	Transcr. at gene 5' and 3'	HUES6 Cell Line	embryonic stem cell
15	chr11:85372000-85376600	Active TSS	Breast Myoepithelial Primary Cells	Breast
16	chr11:85372000-85376600	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
17	chr11:85372200-85374800	Transcr. at gene 5' and 3'	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr11:85372200-85376600	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
19	chr11:85372200-85376800	Active TSS	NHDF-Ad	bronchial
20	chr11:85372400-85376600	Active TSS	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr11:85372600-85375400	Active TSS	Right Atrium	heart
22	chr11:85372600-85376400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr11:85372600-85376400	Active TSS	HSMMtube	muscle
24	chr11:85372600-85376600	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
25	chr11:85372600-85376600	Active TSS	Stomach Smooth Muscle	stomach
26	chr11:85372600-85376600	Active TSS	HMEC	breast
27	chr11:85372800-85376200	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
28	chr11:85372800-85376400	Active TSS	iPS-18 Cell Line	embryonic stem cell
29	chr11:85372800-85376400	Active TSS	Muscle Satellite Cultured Cells	--
30	chr11:85372800-85376400	Active TSS	Fetal Adrenal Gland	Adrenal Gland
31	chr11:85372800-85376400	Active TSS	Fetal Intestine Large	intestine
32	chr11:85372800-85376400	Active TSS	Hela-S3	cervix
33	chr11:85372800-85376400	Active TSS	HSMM	muscle
34	chr11:85372800-85376600	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
35	chr11:85372800-85376600	Active TSS	Pancreatic Islets	Pancreatic Islet
36	chr11:85372800-85376800	Active TSS	iPS-15b Cell Line	embryonic stem cell
37	chr11:85372800-85376800	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
38	chr11:85372800-85376800	Active TSS	Osteobl	bone
39	chr11:85372800-85377000	Active TSS	Fetal Brain Male	brain
40	chr11:85373000-85374200	Enhancers	Primary monocytes fromperipheralblood	blood
41	chr11:85373000-85374200	Genic enhancers	Primary B cells from peripheral blood	blood
42	chr11:85373000-85374400	Flanking Active TSS	Duodenum Mucosa	Duodenum
43	chr11:85373000-85374800	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr11:85373000-85375000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
45	chr11:85373000-85375200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr11:85373000-85375200	Flanking Active TSS	Adipose Nuclei	Adipose
47	chr11:85373000-85376000	Flanking Active TSS	Primary hematopoietic stem cells	blood
48	chr11:85373000-85376200	Active TSS	H9 Cell Line	embryonic stem cell
49	chr11:85373000-85376200	Active TSS	Aorta	Aorta
50	chr11:85373000-85376600	Active TSS	Ovary	ovary

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