Variant report

Variant	rs73224336
Chromosome Location	chr7:121778514-121778515
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	CHD1	chr7:121777560-121778807	H1-hESC	embryonic stem cell:	n/a	n/a
2	POLR2A	chr7:121778270-121779118	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:121777186..121779429-chr7:121782405..121785136,2	K562	blood:
2	chr7:121777883..121779429-chr7:121782207..121783905,2	K562	blood:

Variant related genes	Relation type
AASS	TF binding region
ENSG00000008311	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10488107	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1147489	0.83[ASN][1000 genomes]
rs11977512	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12113399	0.94[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12530583	0.94[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[ASN][1000 genomes]
rs12538079	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17616983	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2109333	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2268077	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs2300199	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4727938	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57341517	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59110694	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs59224714	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.84[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs59529453	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs59993706	0.97[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs60159595	0.95[AFR][1000 genomes];0.93[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs61624073	0.86[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs6948443	0.87[AFR][1000 genomes];0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6952698	0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs6954944	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs72499551	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];0.98[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73224332	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73224339	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73226257	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73226277	0.88[AMR][1000 genomes];0.85[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs73226300	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7784030	0.88[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7810763	0.88[AMR][1000 genomes];0.83[EUR][1000 genomes];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv427803	chr7:121701581-121876302	Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Strong transcription Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
2	nsv1019004	chr7:121733372-121800380	ZNF genes & repeats Enhancers Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
3	nsv1034553	chr7:121734934-121800380	Enhancers Active TSS Weak transcription Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
4	nsv608335	chr7:121749963-121779485	Strong transcription Weak transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
5	nsv523632	chr7:121754695-121802068	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases
6	nsv1016617	chr7:121770441-121820730	Enhancers Active TSS Flanking Active TSS Weak transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:83 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:121744600-121783200	Weak transcription	Lung	lung
2	chr7:121756600-121783000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr7:121756600-121783200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
4	chr7:121756800-121783000	Weak transcription	Fetal Intestine Large	intestine
5	chr7:121763600-121781200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
6	chr7:121773800-121779800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
7	chr7:121773800-121781600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr7:121775600-121783200	Weak transcription	Gastric	stomach
9	chr7:121775800-121782000	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr7:121776400-121783000	Transcr. at gene 5' and 3'	HUES48 Cell Line	embryonic stem cell
11	chr7:121776600-121778600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr7:121777000-121778800	Flanking Active TSS	iPS-15b Cell Line	embryonic stem cell
13	chr7:121777200-121778800	Enhancers	Fetal Heart	heart
14	chr7:121777400-121778600	Enhancers	iPS-18 Cell Line	embryonic stem cell
15	chr7:121777400-121782200	Weak transcription	Fetal Stomach	stomach
16	chr7:121777600-121779600	Enhancers	ES-I3 Cell Line	embryonic stem cell
17	chr7:121777600-121782200	Weak transcription	Pancreas	Pancrea
18	chr7:121777600-121782800	Weak transcription	Fetal Brain Female	brain
19	chr7:121777600-121783000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr7:121777600-121783200	Weak transcription	Esophagus	oesophagus
21	chr7:121777800-121778600	Active TSS	iPS-20b Cell Line	embryonic stem cell
22	chr7:121777800-121778800	Enhancers	Brain Hippocampus Middle	brain
23	chr7:121777800-121779600	Active TSS	H1 Cell Line	embryonic stem cell
24	chr7:121777800-121781000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
25	chr7:121777800-121781000	Weak transcription	Right Ventricle	heart
26	chr7:121777800-121783000	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
27	chr7:121777800-121783200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
28	chr7:121778000-121778800	Enhancers	Primary T helper cells PMA-I stimulated	--
29	chr7:121778000-121778800	Enhancers	Brain Substantia Nigra	brain
30	chr7:121778000-121779000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
31	chr7:121778000-121781200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
32	chr7:121778000-121782000	Weak transcription	Left Ventricle	heart
33	chr7:121778000-121782800	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr7:121778000-121782800	Weak transcription	HMEC	breast
35	chr7:121778000-121783000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
36	chr7:121778000-121783000	Weak transcription	Brain Cingulate Gyrus	brain
37	chr7:121778000-121783000	Weak transcription	Fetal Brain Male	brain
38	chr7:121778000-121783000	Weak transcription	Fetal Muscle Leg	muscle
39	chr7:121778000-121783000	Weak transcription	Skeletal Muscle Male	skeletal muscle
40	chr7:121778200-121778600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
41	chr7:121778200-121778600	Weak transcription	Brain Angular Gyrus	brain
42	chr7:121778200-121778800	Flanking Active TSS	HUES6 Cell Line	embryonic stem cell
43	chr7:121778200-121778800	Active TSS	NHDF-Ad	bronchial
44	chr7:121778200-121778800	Enhancers	NHEK	skin
45	chr7:121778200-121779000	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
46	chr7:121778200-121779000	Enhancers	Osteobl	bone
47	chr7:121778200-121779600	Weak transcription	H9 Cell Line	embryonic stem cell
48	chr7:121778200-121779800	Enhancers	HUES64 Cell Line	embryonic stem cell
49	chr7:121778200-121779800	Weak transcription	Ovary	ovary
50	chr7:121778200-121780000	Enhancers	Liver	Liver

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links