Variant report

Variant	rs6969644
Chromosome Location	chr7:140356334-140356335
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:140352705..140358390-chr7:140370477..140374283,7	MCF-7	breast:
2	chr7:140178651..140180192-chr7:140355165..140357429,2	MCF-7	breast:
3	chr7:140356234..140358588-chr7:140371842..140375478,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000146966	Chromatin interaction
ENSG00000133597	Chromatin interaction
ENSG00000133606	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:24)

rs_ID	r²[population]
rs1106846	0.81[AMR][1000 genomes];0.81[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11977567	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs28828674	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28896544	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2907951	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2907952	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2908235	0.84[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930316	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2930317	0.83[ASN][1000 genomes]
rs2930320	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2930323	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2930325	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2930326	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930328	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930329	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2930330	1.00[AMR][1000 genomes];0.85[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2930332	0.83[ASN][1000 genomes]
rs2968546	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2968554	0.81[AMR][1000 genomes];0.83[ASN][1000 genomes]
rs2968556	0.81[AMR][1000 genomes]
rs2968560	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6977496	1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7785630	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7802537	0.94[EUR][1000 genomes];0.83[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv831157	chr7:140241339-140426876	Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh 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	16 gene(s)	inside rSNPs	diseases
2	esv3371832	chr7:140352483-140356781	Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6969644	ADCK2	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:90 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:140351800-140358000	Weak transcription	Gastric	stomach
2	chr7:140353400-140356400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
3	chr7:140353400-140356600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
4	chr7:140353400-140356600	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr7:140353400-140356600	Weak transcription	Lung	lung
6	chr7:140353400-140356600	Weak transcription	Psoas Muscle	Psoas
7	chr7:140353600-140356400	Weak transcription	Brain Anterior Caudate	brain
8	chr7:140353600-140356600	Weak transcription	Brain Cingulate Gyrus	brain
9	chr7:140355400-140357400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
10	chr7:140355400-140358400	Enhancers	Primary monocytes fromperipheralblood	blood
11	chr7:140355600-140356400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
12	chr7:140355600-140357400	Enhancers	Placenta	Placenta
13	chr7:140355600-140357400	Enhancers	Stomach Mucosa	stomach
14	chr7:140355600-140357600	Enhancers	Fetal Muscle Leg	muscle
15	chr7:140355800-140356400	Enhancers	Rectal Mucosa Donor 31	rectum
16	chr7:140355800-140356400	Enhancers	Right Atrium	heart
17	chr7:140355800-140356400	Enhancers	Dnd41	blood
18	chr7:140355800-140357000	Enhancers	Spleen	Spleen
19	chr7:140355800-140357000	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
20	chr7:140355800-140357200	Enhancers	Primary hematopoietic stem cells	blood
21	chr7:140355800-140357200	Enhancers	Esophagus	oesophagus
22	chr7:140355800-140357200	Enhancers	Fetal Muscle Trunk	muscle
23	chr7:140355800-140357200	Enhancers	Left Ventricle	heart
24	chr7:140355800-140357400	Enhancers	Placenta Amnion	Placenta Amnion
25	chr7:140356000-140356400	Enhancers	Primary B cells from cord blood	blood
26	chr7:140356000-140356400	Enhancers	Fetal Lung	lung
27	chr7:140356000-140356400	Enhancers	Pancreas	Pancrea
28	chr7:140356000-140356400	Flanking Active TSS	Rectal Mucosa Donor 29	rectum
29	chr7:140356000-140356400	Flanking Active TSS	HepG2	liver
30	chr7:140356000-140356400	Enhancers	HSMMtube	muscle
31	chr7:140356000-140356600	Enhancers	Breast Myoepithelial Primary Cells	Breast
32	chr7:140356000-140356800	Active TSS	Rectal Smooth Muscle	rectum
33	chr7:140356000-140357000	Flanking Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr7:140356000-140357000	Enhancers	Primary mononuclear cells fromperipheralblood	Blood
35	chr7:140356000-140357000	Flanking Active TSS	Colon Smooth Muscle	Colon
36	chr7:140356000-140357200	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr7:140356000-140357200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr7:140356000-140357200	Enhancers	Primary B cells from peripheral blood	blood
39	chr7:140356000-140357200	Enhancers	Primary T killer memory cells from peripheral blood	blood
40	chr7:140356000-140357200	Enhancers	Brain Angular Gyrus	brain
41	chr7:140356000-140357200	Enhancers	Fetal Heart	heart
42	chr7:140356000-140357200	Enhancers	Fetal Intestine Small	intestine
43	chr7:140356000-140357200	Enhancers	Sigmoid Colon	Sigmoid Colon
44	chr7:140356000-140357200	Flanking Active TSS	Stomach Smooth Muscle	stomach
45	chr7:140356000-140357400	Enhancers	Fetal Thymus	thymus
46	chr7:140356000-140357400	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
47	chr7:140356200-140356400	Flanking Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr7:140356200-140356400	Flanking Active TSS	Primary T helper memory cells from peripheral blood 2	blood
49	chr7:140356200-140356400	Flanking Active TSS	Primary T helper naive cells from peripheral blood	blood
50	chr7:140356200-140356400	Flanking Active TSS	Primary T helper naive cells fromperipheralblood	blood

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