Variant report

Variant	rs212430
Chromosome Location	chr7:105519546-105519547
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	RAD21	chr7:105519194-105519570	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:105519253-105519685	HepG2	liver:	n/a	n/a

Variant related genes	Relation type
ATXN7L1	TF binding region

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs142752	0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212427	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212429	1.00[CEU][hapmap];0.81[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212434	1.00[CEU][hapmap];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212440	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212442	1.00[CEU][hapmap];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212443	0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs212444	0.82[CEU][hapmap]
rs575979	1.00[ASN][1000 genomes]
rs594181	1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1027213	chr7:105438610-106022869	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	54 gene(s)	inside rSNPs	diseases
2	nsv464669	chr7:105504201-105533735	Flanking Active TSS Enhancers Weak transcription Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
3	nsv608070	chr7:105504201-105533735	Flanking Bivalent TSS/Enh Active TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:77 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:105515600-105519600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
2	chr7:105516000-105519600	Active TSS	Rectal Smooth Muscle	rectum
3	chr7:105518000-105519600	Enhancers	Primary T killer naive cells fromperipheralblood	blood
4	chr7:105518000-105519800	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr7:105518000-105526000	Weak transcription	Small Intestine	intestine
6	chr7:105518200-105519600	Bivalent Enhancer	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr7:105518200-105520000	Flanking Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr7:105518200-105520000	Flanking Active TSS	Duodenum Mucosa	Duodenum
9	chr7:105518200-105520600	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
10	chr7:105518400-105520800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
11	chr7:105518400-105521000	Weak transcription	Esophagus	oesophagus
12	chr7:105518400-105562800	Weak transcription	Aorta	Aorta
13	chr7:105518600-105519600	Flanking Active TSS	ES-I3 Cell Line	embryonic stem cell
14	chr7:105518600-105519600	Enhancers	Brain Germinal Matrix	brain
15	chr7:105518600-105520000	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
16	chr7:105518600-105520000	Enhancers	Sigmoid Colon	Sigmoid Colon
17	chr7:105518600-105520000	Flanking Active TSS	NHDF-Ad	bronchial
18	chr7:105518600-105520000	Enhancers	NHEK	skin
19	chr7:105518600-105520400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
20	chr7:105518600-105521800	Weak transcription	Pancreatic Islets	Pancreatic Islet
21	chr7:105518600-105525600	Weak transcription	Left Ventricle	heart
22	chr7:105518800-105519800	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr7:105518800-105519800	Enhancers	Hela-S3	cervix
24	chr7:105518800-105520000	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr7:105518800-105520000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
26	chr7:105518800-105520000	Enhancers	Primary T cells fromperipheralblood	blood
27	chr7:105518800-105520400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
28	chr7:105518800-105520600	Enhancers	Breast Myoepithelial Primary Cells	Breast
29	chr7:105518800-105521000	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
30	chr7:105518800-105524200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
31	chr7:105518800-105530800	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
32	chr7:105518800-105548200	Weak transcription	Right Atrium	heart
33	chr7:105519000-105519600	Enhancers	Adipose Nuclei	Adipose
34	chr7:105519000-105519600	Flanking Active TSS	HepG2	liver
35	chr7:105519000-105519800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr7:105519000-105519800	Active TSS	Rectal Mucosa Donor 29	rectum
37	chr7:105519000-105520000	Enhancers	Primary T helper cells fromperipheralblood	blood
38	chr7:105519000-105520000	Enhancers	Cortex derived primary cultured neurospheres	brain
39	chr7:105519000-105520000	Enhancers	Fetal Stomach	stomach
40	chr7:105519000-105520200	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr7:105519000-105520400	Enhancers	Primary T helper naive cells fromperipheralblood	blood
42	chr7:105519000-105520800	Enhancers	Primary T killer memory cells from peripheral blood	blood
43	chr7:105519000-105521000	Weak transcription	Gastric	stomach
44	chr7:105519000-105521000	Weak transcription	Pancreas	Pancrea
45	chr7:105519000-105521600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr7:105519000-105521800	Enhancers	Fetal Brain Male	brain
47	chr7:105519000-105532400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr7:105519000-105542600	Weak transcription	A549	lung
49	chr7:105519200-105519600	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
50	chr7:105519200-105519600	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived

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