Variant report

Variant	rs35044018
Chromosome Location	chr7:12727634-12727635
allele	C/T
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:10)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:10 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr7:12727600..12730322-chr7:12818288..12819861,2	K562	blood:
2	chr3:49044397..49045062-chr7:12727150..12727662,2	Hela-S3	cervix:
3	chr7:12569916..12571808-chr7:12727581..12730204,2	K562	blood:
4	chr12:110905653..110906206-chr7:12726777..12727655,2	Hela-S3	cervix:
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	chr1:201475785..201476542-chr7:12726733..12727723,2	Hela-S3	cervix:

No data

Variant related genes	Relation type
ENSG00000111231	Chromatin interaction
ENSG00000204856	Chromatin interaction
ENSG00000224536	Chromatin interaction
ENSG00000006468	Chromatin interaction
ENSG00000159176	Chromatin interaction
ENSG00000178252	Chromatin interaction
ENSG00000119335	Chromatin interaction
ENSG00000006747	Chromatin interaction

Extended variants
information (count: 58 )
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]
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]
rs71536895	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][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:8 , 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
8	nsv970447	chr7:12727573-12729164	Active TSS Weak transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region	13 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:12725200-12730600	Active TSS	Brain Inferior Temporal Lobe	brain
2	chr7:12725400-12727800	Active TSS	Pancreatic Islets	Pancreatic Islet
3	chr7:12725400-12728000	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
4	chr7:12725400-12728000	Active TSS	NHDF-Ad	bronchial
5	chr7:12725400-12728200	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr7:12725400-12728800	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
7	chr7:12725400-12729000	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
8	chr7:12725400-12729000	Active TSS	Duodenum Smooth Muscle	Duodenum
9	chr7:12725400-12729000	Active TSS	Left Ventricle	heart
10	chr7:12725400-12729800	Active TSS	Brain Cingulate Gyrus	brain
11	chr7:12725400-12730400	Active TSS	Brain Angular Gyrus	brain
12	chr7:12725400-12730400	Active TSS	Brain Dorsolateral Prefrontal Cortex	brain
13	chr7:12725400-12730400	Active TSS	Fetal Kidney	kidney
14	chr7:12725400-12730600	Active TSS	Brain Anterior Caudate	brain
15	chr7:12725600-12730800	Active TSS	Rectal Mucosa Donor 29	rectum
16	chr7:12725800-12727800	Active TSS	Primary T killer memory cells from peripheral blood	blood
17	chr7:12725800-12728000	Active TSS	Brain Germinal Matrix	brain
18	chr7:12725800-12728000	Active TSS	Colon Smooth Muscle	Colon
19	chr7:12725800-12728800	Active TSS	Rectal Mucosa Donor 31	rectum
20	chr7:12725800-12730200	Active TSS	Fetal Stomach	stomach
21	chr7:12725800-12730400	Active TSS	Fetal Intestine Small	intestine
22	chr7:12725800-12730400	Active TSS	Right Atrium	heart
23	chr7:12725800-12730600	Active TSS	Right Ventricle	heart
24	chr7:12726000-12727800	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:12726000-12727800	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
26	chr7:12726000-12727800	Active TSS	Ovary	ovary
27	chr7:12726000-12727800	Active TSS	Placenta Amnion	Placenta Amnion
28	chr7:12726000-12728000	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
29	chr7:12726000-12728000	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr7:12726000-12728000	Active TSS	Gastric	stomach
31	chr7:12726000-12728000	Active TSS	Pancreas	Pancrea
32	chr7:12726000-12728000	Active TSS	Skeletal Muscle Male	skeletal muscle
33	chr7:12726000-12728000	Active TSS	Stomach Mucosa	stomach
34	chr7:12726000-12728000	Active TSS	Thymus	Thymus
35	chr7:12726000-12728200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr7:12726000-12728200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
37	chr7:12726000-12728800	Active TSS	H9 Cell Line	embryonic stem cell
38	chr7:12726000-12728800	Active TSS	iPS-20b Cell Line	embryonic stem cell
39	chr7:12726000-12728800	Active TSS	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
40	chr7:12726000-12728800	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
41	chr7:12726000-12728800	Active TSS	A549	lung
42	chr7:12726000-12729000	Active TSS	Esophagus	oesophagus
43	chr7:12726000-12729200	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
44	chr7:12726000-12730000	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
45	chr7:12726000-12730000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
46	chr7:12726000-12730000	Active TSS	HSMM	muscle
47	chr7:12726000-12730000	Active TSS	HSMMtube	muscle
48	chr7:12726000-12730200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
49	chr7:12726000-12730200	Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr7:12726000-12730200	Active TSS	Psoas Muscle	Psoas

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