Variant report

Variant	rs71536895
Chromosome Location	chr7:12727379-12727380
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr3:49044397..49045062-chr7:12727150..12727662,2	Hela-S3	cervix:
2	chr7:12726724..12727446-chr7:100302966..100303748,2	NB4	blood:
3	chr12:110905653..110906206-chr7:12726777..12727655,2	Hela-S3	cervix:
4	chr13:28712090..28712727-chr7:12726516..12727387,2	NB4	blood:
5	chr7:12608764..12610772-chr7:12727255..12728888,2	K562	blood:
6	chr7:12727182..12727729-chr9:131445702..131446218,2	Hela-S3	cervix:
7	chr7:12727333..12730021-chr7:12763089..12765693,3	K562	blood:
8	chr7:12726564..12728069-chr7:14030537..14032719,2	K562	blood:
9	chr7:12726569..12729103-chr7:14030562..14032719,2	K562	blood:
10	chr12:70636454..70637138-chr7:12726998..12727610,2	NB4	blood:
11	chr1:201475785..201476542-chr7:12726733..12727723,2	Hela-S3	cervix:
12	chr2:122288119..122288921-chr7:12726857..12727524,2	Hela-S3	cervix:
13	chr7:12726497..12727418-chr8:33370737..33371619,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000204856	Chromatin interaction
ENSG00000264229	Chromatin interaction
ENSG00000257815	Chromatin interaction
ENSG00000239039	Chromatin interaction
ENSG00000178252	Chromatin interaction
ENSG00000129696	Chromatin interaction
ENSG00000152520	Chromatin interaction
ENSG00000119335	Chromatin interaction
ENSG00000111596	Chromatin interaction
ENSG00000006468	Chromatin interaction
ENSG00000224536	Chromatin interaction
ENSG00000159176	Chromatin interaction
ENSG00000006747	Chromatin interaction
ENSG00000111231	Chromatin interaction
ENSG00000261485	Chromatin interaction
ENSG00000074054	Chromatin interaction
ENSG00000172336	Chromatin interaction

Extended variants
information (count: 57 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:50)

rs_ID	r²[population]
rs12699414	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs13221298	0.94[AMR][1000 genomes]
rs13221458	0.94[AMR][1000 genomes]
rs13222937	0.94[AMR][1000 genomes]
rs13224178	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13224841	0.88[AMR][1000 genomes]
rs13224956	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs13227930	1.00[AFR][1000 genomes]
rs13232089	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs13242483	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13244046	0.94[AMR][1000 genomes]
rs17616248	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs17616514	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs28877021	1.00[ASN][1000 genomes]
rs34250068	0.94[AMR][1000 genomes]
rs34452532	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34539754	1.00[AFR][1000 genomes]
rs34566369	1.00[AFR][1000 genomes]
rs34580221	1.00[AFR][1000 genomes]
rs34811312	0.94[AMR][1000 genomes]
rs35044018	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35091099	0.94[AMR][1000 genomes]
rs35268481	0.94[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs35908302	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs55659055	1.00[ASN][1000 genomes]
rs55831963	0.94[AMR][1000 genomes]
rs56031342	0.94[AMR][1000 genomes]
rs56178138	0.94[AMR][1000 genomes]
rs56246037	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66620565	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs66931243	0.94[AMR][1000 genomes]
rs67346212	1.00[AFR][1000 genomes]
rs71529345	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs71536892	0.94[AMR][1000 genomes]
rs73048799	0.94[AMR][1000 genomes]
rs73053419	0.94[AMR][1000 genomes]
rs73053466	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs73055418	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73055421	0.83[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73055427	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055444	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055447	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055457	1.00[ASN][1000 genomes]
rs73055460	1.00[ASN][1000 genomes]
rs73055475	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73055491	1.00[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73061007	1.00[ASN][1000 genomes]
rs73061023	1.00[ASN][1000 genomes]
rs73061030	1.00[ASN][1000 genomes]
rs892714	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.87[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1024554	chr7:12214722-12967418	Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
2	nsv538735	chr7:12214722-12967418	Bivalent/Poised TSS Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	58 gene(s)	inside rSNPs	diseases
3	nsv830907	chr7:12661239-12818250	Active TSS Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv932020	chr7:12676890-13239551	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
5	nsv830908	chr7:12695007-12870475	Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
6	esv1794967	chr7:12710385-12758624	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	n/a
7	nsv868830	chr7:12712753-13517417	Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12725200-12727600	Active TSS	Brain Substantia Nigra	brain
2	chr7:12725200-12730600	Active TSS	Brain Inferior Temporal Lobe	brain
3	chr7:12725400-12727600	Active TSS	Brain Hippocampus Middle	brain
4	chr7:12725400-12727800	Active TSS	Pancreatic Islets	Pancreatic Islet
5	chr7:12725400-12728000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
6	chr7:12725400-12728000	Active TSS	NHDF-Ad	bronchial
7	chr7:12725400-12728200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
8	chr7:12725400-12728800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
9	chr7:12725400-12729000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
10	chr7:12725400-12729000	Active TSS	Duodenum Smooth Muscle	Duodenum
11	chr7:12725400-12729000	Active TSS	Left Ventricle	heart
12	chr7:12725400-12729800	Active TSS	Brain Cingulate Gyrus	brain
13	chr7:12725400-12730400	Active TSS	Brain Angular Gyrus	brain
14	chr7:12725400-12730400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
15	chr7:12725400-12730400	Active TSS	Fetal Kidney	kidney
16	chr7:12725400-12730600	Active TSS	Brain Anterior Caudate	brain
17	chr7:12725600-12730800	Active TSS	Rectal Mucosa Donor 29	rectum
18	chr7:12725800-12727400	Active TSS	NHLF	lung
19	chr7:12725800-12727600	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
20	chr7:12725800-12727800	Active TSS	Primary T killer memory cells from peripheral blood	blood
21	chr7:12725800-12728000	Active TSS	Brain Germinal Matrix	brain
22	chr7:12725800-12728000	Active TSS	Colon Smooth Muscle	Colon
23	chr7:12725800-12728800	Active TSS	Rectal Mucosa Donor 31	rectum
24	chr7:12725800-12730200	Active TSS	Fetal Stomach	stomach
25	chr7:12725800-12730400	Active TSS	Fetal Intestine Small	intestine
26	chr7:12725800-12730400	Active TSS	Right Atrium	heart
27	chr7:12725800-12730600	Active TSS	Right Ventricle	heart
28	chr7:12726000-12727400	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
29	chr7:12726000-12727400	Active TSS	Monocytes-CD14+_RO01746	blood
30	chr7:12726000-12727600	Active TSS	Aorta	Aorta
31	chr7:12726000-12727600	Active TSS	Lung	lung
32	chr7:12726000-12727600	Active TSS	Spleen	Spleen
33	chr7:12726000-12727800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
34	chr7:12726000-12727800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
35	chr7:12726000-12727800	Active TSS	Ovary	ovary
36	chr7:12726000-12727800	Active TSS	Placenta Amnion	Placenta Amnion
37	chr7:12726000-12728000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
38	chr7:12726000-12728000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr7:12726000-12728000	Active TSS	Gastric	stomach
40	chr7:12726000-12728000	Active TSS	Pancreas	Pancrea
41	chr7:12726000-12728000	Active TSS	Skeletal Muscle Male	skeletal muscle
42	chr7:12726000-12728000	Active TSS	Stomach Mucosa	stomach
43	chr7:12726000-12728000	Active TSS	Thymus	Thymus
44	chr7:12726000-12728200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
45	chr7:12726000-12728200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
46	chr7:12726000-12728800	Active TSS	H9 Cell Line	embryonic stem cell
47	chr7:12726000-12728800	Active TSS	iPS-20b Cell Line	embryonic stem cell
48	chr7:12726000-12728800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
49	chr7:12726000-12728800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
50	chr7:12726000-12728800	Active TSS	A549	lung

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