Variant report

Variant	rs7537349
Chromosome Location	chr1:173749200-173749201
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr1:173746411..173749360-chr1:173790884..173793219,2	K562	blood:
2	chr1:173748318..173749966-chr1:173835406..173837305,2	MCF-7	breast:
3	chr1:173743782..173745551-chr1:173748719..173750353,2	MCF-7	breast:
4	chr1:173735243..173738226-chr1:173747475..173749570,2	K562	blood:
5	chr1:173737933..173739972-chr1:173748335..173750553,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000120334	Chromatin interaction
ENSG00000185278	Chromatin interaction
ENSG00000234741	Chromatin interaction

Extended variants
information (count: 37 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:35)

rs_ID	r²[population]
rs2126126	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28865644	0.90[AFR][1000 genomes]
rs35515638	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56660187	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57520670	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58193236	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58356308	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60228238	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60656154	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61286800	0.95[AFR][1000 genomes]
rs6425259	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap]
rs6425260	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6663103	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6674573	1.00[AMR][1000 genomes]
rs6694637	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031308	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73031331	1.00[AMR][1000 genomes]
rs73033104	1.00[AMR][1000 genomes]
rs73033138	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035115	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035123	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035125	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035130	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035152	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035157	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73035162	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037024	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037030	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037052	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73037062	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7516013	1.00[YRI][hapmap];0.97[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534260	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7534982	0.90[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542542	1.00[YRI][hapmap];0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7542780	0.97[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1012384	chr1:173614816-173974426	Strong transcription Weak transcription Active TSS Enhancers ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Flanking Active 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	294 gene(s)	inside rSNPs	diseases
2	nsv831926	chr1:173702403-173894667	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	291 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:128 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:173726200-173760600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr1:173727600-173750600	Weak transcription	HUVEC	blood vessel
3	chr1:173727600-173751400	Weak transcription	NHDF-Ad	bronchial
4	chr1:173728800-173750000	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr1:173728800-173764800	Weak transcription	H1 Cell Line	embryonic stem cell
6	chr1:173729000-173752400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
7	chr1:173729000-173752600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr1:173729000-173752600	Weak transcription	Right Ventricle	heart
9	chr1:173729600-173752200	Weak transcription	A549	lung
10	chr1:173729800-173781800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr1:173735800-173781000	Weak transcription	Small Intestine	intestine
12	chr1:173736000-173751200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
13	chr1:173736600-173751200	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr1:173736600-173792400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
15	chr1:173736800-173760600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr1:173737200-173750400	Weak transcription	iPS-20b Cell Line	embryonic stem cell
17	chr1:173739400-173751400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr1:173741400-173757400	Strong transcription	Monocytes-CD14+_RO01746	blood
19	chr1:173741800-173759600	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
20	chr1:173741800-173762400	Weak transcription	Stomach Mucosa	stomach
21	chr1:173742800-173754400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
22	chr1:173742800-173759800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
23	chr1:173743000-173749800	Strong transcription	Rectal Mucosa Donor 29	rectum
24	chr1:173743200-173755400	Strong transcription	Primary B cells from peripheral blood	blood
25	chr1:173743200-173757200	Strong transcription	Primary T helper cells fromperipheralblood	blood
26	chr1:173743200-173758800	Strong transcription	Primary T cells from cord blood	blood
27	chr1:173743400-173749400	Strong transcription	Skeletal Muscle Female	skeletal muscle
28	chr1:173743400-173749600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr1:173743400-173752200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
30	chr1:173743400-173753800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr1:173743400-173755600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
32	chr1:173743400-173757200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:173743400-173757200	Strong transcription	Primary T cells fromperipheralblood	blood
34	chr1:173743400-173757400	Strong transcription	Primary neutrophils fromperipheralblood	blood
35	chr1:173743400-173757800	Strong transcription	Dnd41	blood
36	chr1:173743400-173758000	Strong transcription	Fetal Thymus	thymus
37	chr1:173743600-173755400	Strong transcription	Adipose Nuclei	Adipose
38	chr1:173744000-173751400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
39	chr1:173744400-173752400	Weak transcription	H9 Cell Line	embryonic stem cell
40	chr1:173744600-173750800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
41	chr1:173744800-173752200	Weak transcription	HMEC	breast
42	chr1:173744800-173790200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
43	chr1:173745000-173751200	Weak transcription	Brain Substantia Nigra	brain
44	chr1:173745000-173751200	Weak transcription	HSMMtube	muscle
45	chr1:173745000-173751200	Weak transcription	K562	blood
46	chr1:173745000-173752600	Weak transcription	Aorta	Aorta
47	chr1:173745000-173752600	Weak transcription	Gastric	stomach
48	chr1:173745000-173767400	Weak transcription	NHEK	skin
49	chr1:173745000-173792400	Weak transcription	Psoas Muscle	Psoas
50	chr1:173745200-173751200	Weak transcription	NHLF	lung

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