Variant report

Variant	rs67216195
Chromosome Location	chr13:50038209-50038210
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	chr13:50017708..50019470-chr13:50036743..50039424,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000102547	Chromatin interaction
ENSG00000136169	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs17072932	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs17072933	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs60723161	0.90[ASN][1000 genomes]
rs7318481	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs73188685	1.00[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs73188686	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7324615	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7324805	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7358961	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7990424	1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs7994710	0.90[ASN][1000 genomes]
rs7998078	0.90[ASN][1000 genomes]
rs7998996	0.90[ASN][1000 genomes]
rs9591262	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9591264	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9596107	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9596108	0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs9596110	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs9596111	0.82[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9596112	0.80[AFR][1000 genomes];0.93[AMR][1000 genomes];1.00[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9596116	0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs9596127	0.90[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1047311	chr13:49895019-50224227	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
2	nsv430558	chr13:49914393-50059354	Active TSS Enhancers ZNF genes & repeats Weak transcription Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
3	nsv430559	chr13:49930369-50059354	Strong transcription Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
4	nsv430560	chr13:49930643-50059354	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
5	nsv430562	chr13:49930643-50067246	Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
6	nsv430561	chr13:49930643-50089844	Enhancers Strong transcription Active TSS Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
7	nsv430564	chr13:49945247-50059354	Flanking Active TSS Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
8	nsv430566	chr13:49945247-50089844	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
9	nsv430571	chr13:49961137-50059354	Weak transcription Active TSS Strong transcription Enhancers Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
10	nsv430570	chr13:49961137-50089844	Enhancers Strong transcription Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
11	nsv523648	chr13:50005444-50086266	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
12	nsv561613	chr13:50013622-50086266	Weak transcription Strong transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases
13	nsv900070	chr13:50013622-50087142	Enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	17 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:121 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:50020200-50068400	Weak transcription	HMEC	breast
2	chr13:50022000-50069000	Weak transcription	Fetal Brain Male	brain
3	chr13:50023000-50068000	Weak transcription	Hela-S3	cervix
4	chr13:50031800-50068800	Weak transcription	Psoas Muscle	Psoas
5	chr13:50034400-50038400	Strong transcription	Adipose Nuclei	Adipose
6	chr13:50034400-50050800	Weak transcription	NHEK	skin
7	chr13:50034400-50052200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr13:50034400-50068800	Weak transcription	NH-A	brain
9	chr13:50034600-50038400	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
10	chr13:50034600-50039600	ZNF genes & repeats	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
11	chr13:50034800-50040400	Strong transcription	Primary T cells fromperipheralblood	blood
12	chr13:50035000-50038400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
13	chr13:50035000-50039200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
14	chr13:50035000-50040800	Strong transcription	Duodenum Smooth Muscle	Duodenum
15	chr13:50035200-50038400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
16	chr13:50035200-50038400	ZNF genes & repeats	Dnd41	blood
17	chr13:50035200-50038600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
18	chr13:50035200-50038800	ZNF genes & repeats	HUES64 Cell Line	embryonic stem cell
19	chr13:50035200-50039000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr13:50035200-50039000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr13:50035200-50039400	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr13:50035200-50039400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
23	chr13:50035200-50042000	Strong transcription	Colon Smooth Muscle	Colon
24	chr13:50035200-50042200	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr13:50035400-50038400	ZNF genes & repeats	HUES48 Cell Line	embryonic stem cell
26	chr13:50035400-50038400	ZNF genes & repeats	Primary T cells from cord blood	blood
27	chr13:50035400-50038400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr13:50035400-50038400	Strong transcription	Brain Substantia Nigra	brain
29	chr13:50035400-50040600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
30	chr13:50035600-50039000	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
31	chr13:50035600-50039000	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
32	chr13:50035600-50039400	ZNF genes & repeats	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr13:50035600-50039400	Strong transcription	Brain Hippocampus Middle	brain
34	chr13:50035600-50040400	Strong transcription	Fetal Muscle Trunk	muscle
35	chr13:50035800-50038400	ZNF genes & repeats	H1 Cell Line	embryonic stem cell
36	chr13:50035800-50038400	ZNF genes & repeats	Primary hematopoietic stem cells	blood
37	chr13:50035800-50038400	Strong transcription	Primary T killer memory cells from peripheral blood	blood
38	chr13:50035800-50038400	Strong transcription	Brain Cingulate Gyrus	brain
39	chr13:50035800-50038400	ZNF genes & repeats	Fetal Intestine Small	intestine
40	chr13:50035800-50038400	Strong transcription	Rectal Smooth Muscle	rectum
41	chr13:50035800-50038600	ZNF genes & repeats	iPS-20b Cell Line	embryonic stem cell
42	chr13:50035800-50038800	Strong transcription	HSMM	muscle
43	chr13:50035800-50039000	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
44	chr13:50035800-50039000	Strong transcription	Brain Anterior Caudate	brain
45	chr13:50035800-50039200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
46	chr13:50035800-50040800	Strong transcription	Primary T helper naive cells from peripheral blood	blood
47	chr13:50036200-50038600	ZNF genes & repeats	Primary neutrophils fromperipheralblood	blood
48	chr13:50036200-50038600	ZNF genes & repeats	Brain Germinal Matrix	brain
49	chr13:50036400-50038400	ZNF genes & repeats	Fetal Brain Female	brain
50	chr13:50036400-50068600	Weak transcription	Stomach Mucosa	stomach

The 2.0 version of rSNPBase

Variant report

Quick Search:

what's new

Quick links