Variant report

Variant	rs73342964
Chromosome Location	chr7:6485556-6485557
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr7:6485398..6489202-chr7:6520855..6525273,5	MCF-7	breast:
2	chr7:6474092..6477009-chr7:6483600..6487126,3	K562	blood:

Variant related genes	Relation type
ENSG00000269781	Chromatin interaction
ENSG00000136240	Chromatin interaction

Extended variants
information (count: 24 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:14)

rs_ID	r²[population]
rs1075434	0.86[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs34215517	0.86[ASN][1000 genomes]
rs35649698	0.81[AFR][1000 genomes]
rs3729793	0.81[AFR][1000 genomes]
rs3813518	0.83[AFR][1000 genomes];0.93[ASN][1000 genomes]
rs56228579	0.80[AFR][1000 genomes]
rs73341292	0.82[AFR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73342949	0.94[AFR][1000 genomes];0.90[AMR][1000 genomes];0.86[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73342968	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7778220	0.83[AFR][1000 genomes];0.92[AMR][1000 genomes];0.85[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7806655	0.89[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs836514	0.86[EUR][1000 genomes]
rs836528	0.82[EUR][1000 genomes]
rs866279	0.85[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv948912	chr7:5803903-6623553	Active TSS Flanking Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv1034060	chr7:5814823-6745710	Bivalent Enhancer Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
3	nsv538711	chr7:5814823-6745710	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Genic enhancers Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	138 gene(s)	inside rSNPs	diseases
4	nsv1028242	chr7:5819084-6645024	Flanking Active TSS Weak transcription Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer Active TSS 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	127 gene(s)	inside rSNPs	diseases
5	nsv538712	chr7:5819084-6645024	Weak transcription Active TSS Genic enhancers Enhancers Bivalent Enhancer Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	127 gene(s)	inside rSNPs	diseases
6	nsv949531	chr7:5949371-6753694	Strong transcription Bivalent Enhancer Bivalent/Poised TSS Enhancers Weak transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	129 gene(s)	inside rSNPs	diseases
7	nsv1020236	chr7:6248930-6690377	Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
8	nsv497874	chr7:6296768-6614902	Transcr. at gene 5' and 3' Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Strong transcription Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
9	esv1824738	chr7:6431933-6554222	Transcr. at gene 5' and 3' Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Strong transcription ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	esv1825865	chr7:6431933-6554222	Strong transcription Genic enhancers Flanking Active TSS Weak transcription Active TSS Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr7:6453000-6486800	Weak transcription	Small Intestine	intestine
2	chr7:6456800-6486800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
3	chr7:6465000-6486600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
4	chr7:6465800-6486400	Weak transcription	Colonic Mucosa	Colon
5	chr7:6466000-6486400	Weak transcription	Aorta	Aorta
6	chr7:6476200-6486400	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr7:6476400-6486400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr7:6478800-6485600	Strong transcription	Fetal Intestine Small	intestine
9	chr7:6478800-6486000	Strong transcription	HUES6 Cell Line	embryonic stem cell
10	chr7:6478800-6486600	Weak transcription	Fetal Heart	heart
11	chr7:6479000-6486000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr7:6479200-6486400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
13	chr7:6479400-6486400	Weak transcription	Right Atrium	heart
14	chr7:6479600-6485600	Strong transcription	Fetal Muscle Leg	muscle
15	chr7:6479800-6485800	Strong transcription	Fetal Thymus	thymus
16	chr7:6480000-6485600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
17	chr7:6480600-6485600	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
18	chr7:6481000-6485800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
19	chr7:6481200-6485600	Strong transcription	Duodenum Mucosa	Duodenum
20	chr7:6481200-6485800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr7:6481200-6486000	Strong transcription	HUES64 Cell Line	embryonic stem cell
22	chr7:6481200-6486000	Strong transcription	Fetal Stomach	stomach
23	chr7:6481400-6485800	Strong transcription	H1 Cell Line	embryonic stem cell
24	chr7:6481400-6485800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr7:6481400-6485800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
26	chr7:6481400-6485800	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
27	chr7:6481400-6485800	Genic enhancers	Primary monocytes fromperipheralblood	blood
28	chr7:6481400-6485800	Strong transcription	Cortex derived primary cultured neurospheres	brain
29	chr7:6481400-6485800	Strong transcription	Fetal Muscle Trunk	muscle
30	chr7:6481400-6486400	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr7:6481600-6485600	Genic enhancers	Primary T helper cells fromperipheralblood	blood
32	chr7:6481600-6485800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
33	chr7:6481600-6485800	Strong transcription	Liver	Liver
34	chr7:6481600-6485800	Genic enhancers	Skeletal Muscle Female	skeletal muscle
35	chr7:6481600-6485800	Strong transcription	Spleen	Spleen
36	chr7:6481800-6485600	Strong transcription	Adipose Nuclei	Adipose
37	chr7:6481800-6485800	Strong transcription	ES-I3 Cell Line	embryonic stem cell
38	chr7:6481800-6485800	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
39	chr7:6482000-6485800	Strong transcription	Gastric	stomach
40	chr7:6482000-6486400	Weak transcription	GM12878-XiMat	blood
41	chr7:6482200-6485800	Genic enhancers	Hela-S3	cervix
42	chr7:6482200-6486200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
43	chr7:6482200-6486200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
44	chr7:6482200-6486400	Weak transcription	Stomach Mucosa	stomach
45	chr7:6482400-6485600	Strong transcription	Primary B cells from cord blood	blood
46	chr7:6482400-6485600	Strong transcription	Sigmoid Colon	Sigmoid Colon
47	chr7:6482400-6486400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
48	chr7:6482400-6486400	Weak transcription	Brain Angular Gyrus	brain
49	chr7:6483000-6485600	Strong transcription	Primary T cells fromperipheralblood	blood
50	chr7:6483000-6486000	Genic enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin

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