Variant report

Variant	rs73377594
Chromosome Location	chr7:66210892-66210893
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr7:66118228..66120742-chr7:66209055..66211057,2	MCF-7	breast:
2	chr7:66203955..66208659-chr7:66209716..66215353,8	K562	blood:
3	chr7:66209147..66212594-chr7:66215527..66217393,3	MCF-7	breast:
4	chr7:66204257..66207102-chr7:66209621..66212224,4	MCF-7	breast:
5	chr7:66209588..66211104-chr7:66309557..66311367,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000243335	Chromatin interaction
ENSG00000230583	Chromatin interaction
ENSG00000154710	Chromatin interaction
ENSG00000226824	Chromatin interaction
ENSG00000272831	Chromatin interaction

Extended variants
information (count: 56 )
Associated
traits (count: 7 )

rSNPs within LD-proxies of this variant (count:52)

rs_ID	r²[population]
rs10950047	0.92[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs11766583	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs12666079	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs12667394	0.82[AFR][1000 genomes]
rs12668022	0.82[ASN][1000 genomes]
rs1267814	0.89[EUR][1000 genomes]
rs13311962	0.89[EUR][1000 genomes]
rs1638724	0.89[EUR][1000 genomes]
rs1638725	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs1638728	0.93[EUR][1000 genomes]
rs1638732	0.86[EUR][1000 genomes]
rs1638735	0.87[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs17747939	0.84[ASN][1000 genomes]
rs1796212	0.84[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs1796217	0.91[EUR][1000 genomes]
rs1796218	0.91[EUR][1000 genomes]
rs1796219	0.92[EUR][1000 genomes]
rs1796222	0.81[EUR][1000 genomes]
rs1796226	0.84[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs1796227	0.91[EUR][1000 genomes]
rs1922722	0.88[AFR][1000 genomes];0.85[AMR][1000 genomes];0.94[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs2052089	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2420612	0.82[EUR][1000 genomes]
rs2533282	0.80[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs2533283	0.86[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs2533284	0.93[EUR][1000 genomes]
rs2707851	0.88[AFR][1000 genomes];0.92[EUR][1000 genomes]
rs28425729	0.82[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs28817617	0.84[EUR][1000 genomes]
rs2901267	0.97[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35244862	0.84[ASN][1000 genomes]
rs3800815	0.83[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4717322	0.95[ASN][1000 genomes]
rs4718364	0.83[EUR][1000 genomes]
rs4718385	0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4718410	0.95[ASN][1000 genomes]
rs6460311	0.92[EUR][1000 genomes]
rs6947441	0.93[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs6961853	0.83[EUR][1000 genomes]
rs6966953	0.93[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs6970767	0.91[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6974046	0.82[ASN][1000 genomes]
rs6979167	0.94[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73139927	0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73139974	0.87[AMR][1000 genomes];0.81[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73152714	0.83[EUR][1000 genomes]
rs73377549	0.90[AFR][1000 genomes];0.83[AMR][1000 genomes];0.95[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs801199	0.89[EUR][1000 genomes]
rs801210	0.89[EUR][1000 genomes]
rs801212	0.89[EUR][1000 genomes]
rs801213	0.89[EUR][1000 genomes]
rs964971	0.89[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	nsv532124	chr7:65371521-66234730	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	125 gene(s)	inside rSNPs	diseases
2	nsv1026559	chr7:65617368-66370805	Weak transcription Enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	116 gene(s)	inside rSNPs	diseases
3	nsv888328	chr7:66173040-66327654	Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	27 gene(s)	inside rSNPs	diseases
4	nsv971490	chr7:66192193-66212423	Genic enhancers Enhancers Flanking Bivalent TSS/Enh Weak transcription Strong transcription Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases

mRNA abundance (count:7)

SNP	Gene	Cis/trans	Tissue	Source
rs73377594	RNU6-96P	cis	Thyroid	GTEx
rs73377594	GS1-124K5.11	cis	Thyroid	GTEx
rs73377594	GS1-124K5.4	cis	Artery Aorta	GTEx
rs73377594	GTF2IRD1P1	cis	Thyroid	GTEx
rs73377594	GS1-124K5.4	cis	Esophagus Mucosa	GTEx
rs73377594	RP4-756H11.3	cis	Heart Left Ventricle	GTEx
rs73377594	GS1-124K5.4	cis	Stomach	GTEx

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:66206400-66216600	Weak transcription	Spleen	Spleen
2	chr7:66206800-66212800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
3	chr7:66206800-66213600	Weak transcription	Small Intestine	intestine
4	chr7:66206800-66216400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
5	chr7:66206800-66223400	Weak transcription	Sigmoid Colon	Sigmoid Colon
6	chr7:66206800-66232600	Weak transcription	Primary T cells from cord blood	blood
7	chr7:66206800-66238800	Weak transcription	Aorta	Aorta
8	chr7:66207000-66211600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
9	chr7:66207000-66213000	Weak transcription	Psoas Muscle	Psoas
10	chr7:66207000-66213800	Weak transcription	Primary hematopoietic stem cells	blood
11	chr7:66207000-66213800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
12	chr7:66207000-66216200	Weak transcription	HUES48 Cell Line	embryonic stem cell
13	chr7:66207000-66216400	Weak transcription	Right Atrium	heart
14	chr7:66207000-66216600	Weak transcription	Esophagus	oesophagus
15	chr7:66207000-66222200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
16	chr7:66207000-66227400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
17	chr7:66207000-66227400	Weak transcription	Fetal Stomach	stomach
18	chr7:66207000-66230600	Weak transcription	Fetal Intestine Large	intestine
19	chr7:66207000-66230600	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr7:66207000-66234000	Weak transcription	Fetal Thymus	thymus
21	chr7:66207000-66238400	Weak transcription	HUES6 Cell Line	embryonic stem cell
22	chr7:66207000-66238400	Weak transcription	Fetal Muscle Trunk	muscle
23	chr7:66207000-66255200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
24	chr7:66207200-66212400	Weak transcription	Fetal Brain Female	brain
25	chr7:66207200-66212800	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr7:66207200-66213400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr7:66207200-66213600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
28	chr7:66207200-66223400	Weak transcription	Rectal Mucosa Donor 29	rectum
29	chr7:66207400-66212200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr7:66207400-66212800	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr7:66207400-66213200	Weak transcription	Brain Hippocampus Middle	brain
32	chr7:66207600-66212200	Weak transcription	Liver	Liver
33	chr7:66207600-66212200	Weak transcription	Brain Anterior Caudate	brain
34	chr7:66207600-66212200	Weak transcription	Brain Cingulate Gyrus	brain
35	chr7:66207600-66213600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
36	chr7:66207600-66213800	Weak transcription	Monocytes-CD14+_RO01746	blood
37	chr7:66207600-66214000	Weak transcription	Gastric	stomach
38	chr7:66207600-66220400	Weak transcription	Brain Angular Gyrus	brain
39	chr7:66207600-66220400	Weak transcription	Brain Substantia Nigra	brain
40	chr7:66207600-66223200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
41	chr7:66207600-66223400	Weak transcription	K562	blood
42	chr7:66207600-66239800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
43	chr7:66207800-66212000	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr7:66207800-66212200	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr7:66207800-66219800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
46	chr7:66207800-66220600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
47	chr7:66207800-66225800	Weak transcription	Fetal Muscle Leg	muscle
48	chr7:66208000-66212000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
49	chr7:66208000-66212000	Weak transcription	Adipose Nuclei	Adipose
50	chr7:66208000-66212200	Weak transcription	Muscle Satellite Cultured Cells	--

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links