Variant report

Variant	rs73001016
Chromosome Location	chr1:155718761-155718762
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr1:155714815..155717655-chr1:155717982..155720933,2	K562	blood:

Variant related genes	Relation type
ENSG00000203761	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs35542631	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57110733	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57692591	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57875392	1.00[AMR][1000 genomes]
rs59071816	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59293055	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59322867	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60243295	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60291493	1.00[AMR][1000 genomes]
rs61290992	1.00[AMR][1000 genomes]
rs61317108	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6689656	1.00[AMR][1000 genomes]
rs72995136	1.00[AMR][1000 genomes]
rs72999071	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999073	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs72999076	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73001054	0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73001080	1.00[AMR][1000 genomes]
rs73001081	1.00[AMR][1000 genomes]
rs73001083	1.00[AMR][1000 genomes]
rs73001085	1.00[AMR][1000 genomes]
rs73001088	1.00[AMR][1000 genomes]
rs73001099	1.00[AMR][1000 genomes]
rs73002905	1.00[AMR][1000 genomes]
rs73002907	1.00[AMR][1000 genomes]
rs73002917	1.00[AMR][1000 genomes]
rs73002929	1.00[AMR][1000 genomes]
rs73002930	1.00[AMR][1000 genomes]
rs7516232	1.00[AMR][1000 genomes]
rs7553076	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv529709	chr1:155154933-155757219	Strong transcription Weak transcription Flanking Active TSS Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	450 gene(s)	inside rSNPs	diseases
2	esv33869	chr1:155223283-155917961	Flanking Active TSS Strong transcription Weak transcription Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
3	nsv428246	chr1:155558197-155785831	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
4	esv3436971	chr1:155618172-155733386	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
5	esv3338099	chr1:155618190-155733359	Weak transcription Strong transcription Enhancers Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
6	esv3423892	chr1:155664084-155901487	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
7	nsv3065	chr1:155682768-155727524	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	7 gene(s)	inside rSNPs	diseases
8	nsv946422	chr1:155716220-155722236	Weak transcription Active TSS Strong transcription Genic enhancers Enhancers Flanking Active TSS	TF binding region CpG island Chromatin interactive region	3 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr1:155715400-155720800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
2	chr1:155715400-155720800	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr1:155715400-155721200	Weak transcription	Colon Smooth Muscle	Colon
4	chr1:155715400-155723000	Weak transcription	Aorta	Aorta
5	chr1:155715400-155725600	Weak transcription	Fetal Brain Male	brain
6	chr1:155715400-155726200	Weak transcription	Pancreatic Islets	Pancreatic Islet
7	chr1:155715400-155730000	Weak transcription	Stomach Mucosa	stomach
8	chr1:155715400-155739200	Weak transcription	Fetal Heart	heart
9	chr1:155715400-155789200	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr1:155715600-155720600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
11	chr1:155715600-155720600	Weak transcription	Colonic Mucosa	Colon
12	chr1:155715600-155720600	Weak transcription	Fetal Lung	lung
13	chr1:155715600-155720800	Weak transcription	Primary B cells from cord blood	blood
14	chr1:155715600-155720800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
15	chr1:155715600-155720800	Weak transcription	HepG2	liver
16	chr1:155715600-155722800	Weak transcription	Fetal Kidney	kidney
17	chr1:155715600-155722800	Weak transcription	Gastric	stomach
18	chr1:155715600-155725000	Weak transcription	Small Intestine	intestine
19	chr1:155715600-155725200	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr1:155715600-155725200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr1:155715600-155725400	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr1:155715600-155726800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
23	chr1:155715600-155764600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
24	chr1:155716000-155720600	Weak transcription	Rectal Smooth Muscle	rectum
25	chr1:155716000-155720800	Weak transcription	HUVEC	blood vessel
26	chr1:155716000-155722600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
27	chr1:155716000-155725000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr1:155716000-155793400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
29	chr1:155716200-155720200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr1:155716200-155720800	Weak transcription	Hela-S3	cervix
31	chr1:155716200-155721000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
32	chr1:155716200-155722800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
33	chr1:155716200-155722800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
34	chr1:155716200-155726800	Weak transcription	A549	lung
35	chr1:155716600-155725400	Strong transcription	Fetal Intestine Small	intestine
36	chr1:155716600-155781800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
37	chr1:155716800-155722200	Weak transcription	NHEK	skin
38	chr1:155717200-155719000	Strong transcription	Brain Hippocampus Middle	brain
39	chr1:155717200-155725000	Strong transcription	Lung	lung
40	chr1:155717200-155725600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
41	chr1:155717200-155761000	Strong transcription	Fetal Stomach	stomach
42	chr1:155717400-155718800	Strong transcription	H1 Cell Line	embryonic stem cell
43	chr1:155717400-155718800	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr1:155717400-155718800	Strong transcription	Adipose Nuclei	Adipose
45	chr1:155717400-155718800	Strong transcription	NH-A	brain
46	chr1:155717400-155719000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr1:155717400-155719000	Genic enhancers	Osteobl	bone
48	chr1:155717400-155719200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr1:155717400-155719200	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr1:155717400-155719200	Strong transcription	Primary neutrophils fromperipheralblood	blood

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