Variant report

Variant	rs7636976
Chromosome Location	chr3:140951365-140951366
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:140949328..140952346-chr3:140991131..140995521,4	MCF-7	breast:
2	chr3:140660428..140662148-chr3:140951081..140952832,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000155893	Chromatin interaction
ENSG00000114120	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:23)

rs_ID	r²[population]
rs11710222	0.83[EUR][1000 genomes]
rs11712552	0.87[ASN][1000 genomes]
rs16851151	0.84[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs16851191	0.82[EUR][1000 genomes]
rs2012610	0.84[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2292400	0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs2292401	0.91[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2292402	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4683587	0.82[EUR][1000 genomes]
rs56163421	0.83[EUR][1000 genomes]
rs56254804	0.82[EUR][1000 genomes]
rs56273864	0.84[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs58903469	0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6439982	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6439983	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6439986	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6439987	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6439989	0.84[EUR][1000 genomes]
rs6762331	0.83[EUR][1000 genomes]
rs73869537	0.83[EUR][1000 genomes]
rs7618821	0.84[EUR][1000 genomes]
rs7629005	0.83[EUR][1000 genomes]
rs971799	0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv460870	chr3:140938546-141005574	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
2	nsv591892	chr3:140938546-141005574	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
3	esv3512631	chr3:140949362-140952160	Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Weak transcription Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
4	esv3512632	chr3:140949362-140952160	Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs7636976	ACPL2	cis	Whole Blood	GTEx

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:140949800-140951400	Active TSS	Placenta Amnion	Placenta Amnion
2	chr3:140949800-140951400	Active TSS	Rectal Mucosa Donor 31	rectum
3	chr3:140949800-140951400	Active TSS	Rectal Smooth Muscle	rectum
4	chr3:140949800-140951600	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr3:140949800-140951600	Active TSS	Aorta	Aorta
6	chr3:140949800-140951600	Active TSS	Duodenum Smooth Muscle	Duodenum
7	chr3:140949800-140951600	Active TSS	Pancreatic Islets	Pancreatic Islet
8	chr3:140949800-140951600	Active TSS	Ovary	ovary
9	chr3:140949800-140951600	Active TSS	Psoas Muscle	Psoas
10	chr3:140949800-140951600	Active TSS	Sigmoid Colon	Sigmoid Colon
11	chr3:140949800-140952000	Active TSS	H9 Cell Line	embryonic stem cell
12	chr3:140949800-140952000	Active TSS	Left Ventricle	heart
13	chr3:140950000-140951400	Active TSS	HUES48 Cell Line	embryonic stem cell
14	chr3:140950000-140951400	Active TSS	HUES64 Cell Line	embryonic stem cell
15	chr3:140950000-140951400	Active TSS	iPS-15b Cell Line	embryonic stem cell
16	chr3:140950000-140951400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr3:140950000-140951400	Transcr. at gene 5' and 3'	iPS DF 19.11 Cell Line	embryonic stem cell
18	chr3:140950000-140951400	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
19	chr3:140950000-140951400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
20	chr3:140950000-140951400	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr3:140950000-140951400	Active TSS	Brain Anterior Caudate	brain
22	chr3:140950000-140951400	Active TSS	Brain Inferior Temporal Lobe	brain
23	chr3:140950000-140951400	Active TSS	Colon Smooth Muscle	Colon
24	chr3:140950000-140951400	Active TSS	Duodenum Mucosa	Duodenum
25	chr3:140950000-140951400	Active TSS	Fetal Kidney	kidney
26	chr3:140950000-140951600	Active TSS	ES-WA7 Cell Line	embryonic stem cell
27	chr3:140950000-140951600	Active TSS	Primary T cells from cord blood	blood
28	chr3:140950000-140951600	Active TSS	Primary T helper naive cells from peripheral blood	blood
29	chr3:140950000-140951600	Active TSS	Small Intestine	intestine
30	chr3:140950000-140951600	Flanking Active TSS	HMEC	breast
31	chr3:140950000-140951800	Active TSS	Brain Hippocampus Middle	brain
32	chr3:140950000-140951800	Active TSS	Brain Substantia Nigra	brain
33	chr3:140950000-140952000	Active TSS	Brain Angular Gyrus	brain
34	chr3:140950000-140952000	Active TSS	Brain Cingulate Gyrus	brain
35	chr3:140950200-140951400	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
36	chr3:140950200-140951400	Bivalent/Poised TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
37	chr3:140950200-140951400	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr3:140950200-140951400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
39	chr3:140950200-140951400	Active TSS	Breast Myoepithelial Primary Cells	Breast
40	chr3:140950200-140951400	Active TSS	Primary T killer naive cells fromperipheralblood	blood
41	chr3:140950200-140951400	Active TSS	Primary T killer memory cells from peripheral blood	blood
42	chr3:140950200-140951400	Active TSS	Liver	Liver
43	chr3:140950200-140951400	Active TSS	Fetal Intestine Large	intestine
44	chr3:140950200-140951400	Active TSS	Fetal Lung	lung
45	chr3:140950200-140951400	Active TSS	Pancreas	Pancrea
46	chr3:140950200-140951400	Active TSS	Rectal Mucosa Donor 29	rectum
47	chr3:140950200-140951400	Active TSS	Skeletal Muscle Male	skeletal muscle
48	chr3:140950200-140951400	Active TSS	Stomach Mucosa	stomach
49	chr3:140950200-140951400	Active TSS	NHDF-Ad	bronchial
50	chr3:140950200-140951400	Active TSS	Osteobl	bone

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