Variant report

Variant	rs604630
Chromosome Location	chr11:65649774-65649775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr11:65274736..65277553-chr11:65649720..65652648,2	K562	blood:
2	chr11:65482077..65483919-chr11:65649020..65651069,2	MCF-7	breast:
3	chr11:65478671..65480330-chr11:65648521..65651673,3	MCF-7	breast:
4	chr11:65646632..65650808-chr11:65654844..65660529,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000172500	Chromatin interaction
ENSG00000172977	Chromatin interaction
ENSG00000175602	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:37)

rs_ID	r²[population]
rs1048924	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10896054	1.00[EUR][1000 genomes]
rs1151520	0.92[ASW][hapmap];0.87[LWK][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];0.91[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs12275175	1.00[EUR][1000 genomes]
rs12283972	1.00[EUR][1000 genomes]
rs12294096	1.00[EUR][1000 genomes]
rs12294241	1.00[EUR][1000 genomes]
rs12294549	1.00[EUR][1000 genomes]
rs12721573	1.00[EUR][1000 genomes]
rs1647569	1.00[EUR][1000 genomes]
rs2231889	1.00[CHB][hapmap]
rs2298447	1.00[CHB][hapmap]
rs34035680	1.00[EUR][1000 genomes]
rs35194319	1.00[EUR][1000 genomes]
rs500667	1.00[EUR][1000 genomes]
rs508328	1.00[EUR][1000 genomes]
rs516889	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs548709	1.00[EUR][1000 genomes]
rs551115	1.00[EUR][1000 genomes]
rs551986	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs558167	1.00[AMR][1000 genomes]
rs56663613	1.00[EUR][1000 genomes]
rs56990327	1.00[EUR][1000 genomes]
rs601314	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs606830	1.00[CHB][hapmap]
rs613953	1.00[EUR][1000 genomes]
rs614330	1.00[EUR][1000 genomes]
rs641323	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs645043	0.81[AFR][1000 genomes]
rs669300	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs7107453	1.00[TSI][hapmap]
rs7115662	1.00[EUR][1000 genomes]
rs7124858	1.00[EUR][1000 genomes]
rs73492420	1.00[EUR][1000 genomes]
rs73492424	1.00[EUR][1000 genomes]
rs73492432	1.00[EUR][1000 genomes]
rs9795469	1.00[CHB][hapmap]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv897736	chr11:65335705-65676516	Flanking Active TSS Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	227 gene(s)	inside rSNPs	diseases
2	nsv430401	chr11:65419324-65788024	Enhancers Weak transcription Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	224 gene(s)	inside rSNPs	diseases
3	esv2758274	chr11:65559893-65722363	Genic enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
4	esv2759834	chr11:65559893-65722363	Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
5	nsv427890	chr11:65559893-65722363	Weak transcription Flanking Active TSS Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
6	nsv897761	chr11:65580638-65738566	Weak transcription Enhancers Active TSS Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	186 gene(s)	inside rSNPs	diseases
7	nsv555215	chr11:65581579-65676516	Strong transcription Active TSS Flanking Active TSS Enhancers Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases
8	nsv897762	chr11:65613218-65758854	Active TSS Flanking Active TSS Genic enhancers Enhancers Flanking Bivalent TSS/Enh Strong transcription Weak transcription ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	185 gene(s)	inside rSNPs	diseases
9	nsv897764	chr11:65613348-65695222	Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	176 gene(s)	inside rSNPs	diseases
10	nsv897765	chr11:65623708-65758854	Strong transcription Flanking Active TSS Weak transcription Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	178 gene(s)	inside rSNPs	diseases
11	nsv832191	chr11:65632329-65806120	Flanking Active TSS Weak transcription Active TSS Strong transcription Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	119 gene(s)	inside rSNPs	diseases
12	nsv530622	chr11:65649068-65661361	Genic enhancers Flanking Active TSS Enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	65 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs604630	CCDC85B	cis	lymphoblastoid	seeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr11:65641000-65654400	Weak transcription	Fetal Heart	heart
2	chr11:65641400-65649800	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr11:65641400-65649800	Weak transcription	Osteobl	bone
4	chr11:65641400-65650000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
5	chr11:65641400-65650000	Weak transcription	Aorta	Aorta
6	chr11:65641400-65650000	Weak transcription	A549	lung
7	chr11:65641400-65650400	Weak transcription	Fetal Kidney	kidney
8	chr11:65641400-65650400	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr11:65641400-65650600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr11:65641400-65651000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
11	chr11:65641400-65654000	Weak transcription	Small Intestine	intestine
12	chr11:65641600-65649800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
13	chr11:65641600-65649800	Weak transcription	Adipose Nuclei	Adipose
14	chr11:65641600-65649800	Weak transcription	Brain Cingulate Gyrus	brain
15	chr11:65641600-65649800	Weak transcription	Ovary	ovary
16	chr11:65641600-65649800	Weak transcription	Pancreas	Pancrea
17	chr11:65641600-65650000	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr11:65641600-65650000	Weak transcription	H9 Cell Line	embryonic stem cell
19	chr11:65641600-65650000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr11:65641600-65650000	Weak transcription	HUES64 Cell Line	embryonic stem cell
21	chr11:65641600-65650000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr11:65641600-65650000	Weak transcription	Colonic Mucosa	Colon
23	chr11:65641600-65650000	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr11:65641600-65650000	Weak transcription	Rectal Smooth Muscle	rectum
25	chr11:65641600-65650000	Weak transcription	Skeletal Muscle Female	skeletal muscle
26	chr11:65641600-65650000	Weak transcription	NHDF-Ad	bronchial
27	chr11:65641600-65650200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr11:65641600-65650200	Weak transcription	Liver	Liver
29	chr11:65641600-65650400	Weak transcription	Colon Smooth Muscle	Colon
30	chr11:65641600-65651000	Weak transcription	Left Ventricle	heart
31	chr11:65641600-65651000	Weak transcription	Hela-S3	cervix
32	chr11:65641600-65651200	Weak transcription	Psoas Muscle	Psoas
33	chr11:65641600-65655000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
34	chr11:65641600-65655000	Weak transcription	Pancreatic Islets	Pancreatic Islet
35	chr11:65641600-65655000	Weak transcription	Right Atrium	heart
36	chr11:65641800-65651000	Weak transcription	Stomach Mucosa	stomach
37	chr11:65646000-65651000	Weak transcription	K562	blood
38	chr11:65646400-65650200	Weak transcription	HepG2	liver
39	chr11:65647200-65652000	Strong transcription	Fetal Stomach	stomach
40	chr11:65647400-65650000	Weak transcription	Fetal Lung	lung
41	chr11:65647400-65650000	Weak transcription	Dnd41	blood
42	chr11:65647400-65652000	Strong transcription	Fetal Intestine Small	intestine
43	chr11:65647600-65649800	Weak transcription	Esophagus	oesophagus
44	chr11:65647800-65649800	Weak transcription	Monocytes-CD14+_RO01746	blood
45	chr11:65647800-65650000	Weak transcription	Rectal Mucosa Donor 29	rectum
46	chr11:65648200-65651200	Transcr. at gene 5' and 3'	Foreskin Fibroblast Primary Cells skin02	Skin
47	chr11:65648200-65651800	Strong transcription	Placenta Amnion	Placenta Amnion
48	chr11:65648600-65651600	Strong transcription	Brain Inferior Temporal Lobe	brain
49	chr11:65648600-65651800	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
50	chr11:65648600-65652200	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin

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