Variant report

Variant	rs57658160
Chromosome Location	chr13:111291819-111291820
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:111289947..111291840-chr13:111364201..111367983,3	MCF-7	breast:
2	chr10:124768484..124768999-chr13:111291105..111291975,2	NB4	blood:
3	chr13:111287671..111291034-chr13:111291640..111294816,4	MCF-7	breast:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-CARKD-1	chr13:111291555-111292340	NONHSAT035156

Variant related genes	Relation type
ENSG00000134905	Chromatin interaction
ENSG00000153487	Chromatin interaction
ENSG00000196177	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:19)

rs_ID	r²[population]
rs10467308	1.00[ASN][1000 genomes]
rs11838544	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838563	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11838902	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11840245	0.87[AMR][1000 genomes]
rs11840542	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11841651	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12427561	1.00[ASN][1000 genomes]
rs12428009	1.00[ASN][1000 genomes]
rs34419560	0.87[AMR][1000 genomes]
rs55949519	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57696811	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs57813755	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59590698	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs59764598	1.00[EUR][1000 genomes]
rs60690859	0.87[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs718886	1.00[ASN][1000 genomes]
rs73629903	1.00[ASN][1000 genomes]
rs73629967	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:17 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv832720	chr13:111100235-111295993	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases
2	nsv1044234	chr13:111143053-111370580	Enhancers Weak transcription Strong transcription Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	216 gene(s)	inside rSNPs	diseases
3	nsv949634	chr13:111151460-111582996	Genic enhancers Weak transcription Flanking Active TSS Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	245 gene(s)	inside rSNPs	diseases
4	nsv1053922	chr13:111167764-111330876	Flanking Active TSS Strong transcription Genic enhancers Weak transcription Bivalent Enhancer Enhancers ZNF genes & repeats Active TSS 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	25 gene(s)	inside rSNPs	diseases
5	nsv1043849	chr13:111167764-111340418	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Flanking Active TSS Strong transcription Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
6	nsv541924	chr13:111167764-111340418	Strong transcription Active TSS Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
7	nsv1036160	chr13:111167764-111347308	Weak transcription Enhancers Strong transcription Flanking Active TSS Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
8	nsv541925	chr13:111167764-111347308	Weak transcription Genic enhancers Strong transcription ZNF genes & repeats Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
9	nsv901012	chr13:111220842-111340342	Weak transcription Bivalent/Poised TSS ZNF genes & repeats Active TSS Strong transcription Enhancers Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
10	nsv1044340	chr13:111234073-111692994	Bivalent Enhancer Genic enhancers Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
11	nsv563123	chr13:111237260-111292044	Weak transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
12	nsv563124	chr13:111261267-111300943	Enhancers Genic enhancers Strong transcription Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	17 gene(s)	inside rSNPs	diseases
13	nsv1048700	chr13:111265350-111658617	Strong transcription Flanking Active TSS Enhancers Genic enhancers ZNF genes & repeats Active TSS Weak transcription Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	240 gene(s)	inside rSNPs	diseases
14	nsv456120	chr13:111280002-111309617	Strong transcription Weak transcription Genic enhancers Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	n/a
15	nsv563125	chr13:111280002-111309617	Strong transcription Genic enhancers Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	n/a
16	nsv1042232	chr13:111282123-111348475	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
17	nsv901013	chr13:111291192-111340342	ZNF genes & repeats Enhancers Strong transcription Weak transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 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	chr13:111270800-111296800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr13:111280800-111328600	Weak transcription	Psoas Muscle	Psoas
3	chr13:111281400-111293000	Weak transcription	Right Atrium	heart
4	chr13:111282000-111309600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
5	chr13:111282800-111310000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
6	chr13:111285800-111296800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
7	chr13:111286000-111297000	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
8	chr13:111286000-111297000	Strong transcription	Fetal Intestine Large	intestine
9	chr13:111286000-111297000	Strong transcription	Fetal Intestine Small	intestine
10	chr13:111286000-111297200	Strong transcription	Sigmoid Colon	Sigmoid Colon
11	chr13:111286000-111297400	Strong transcription	Primary T helper cells fromperipheralblood	blood
12	chr13:111286000-111298200	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr13:111286200-111292400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr13:111286200-111292600	Strong transcription	Fetal Muscle Trunk	muscle
15	chr13:111286200-111293000	Strong transcription	Colon Smooth Muscle	Colon
16	chr13:111286200-111293000	Strong transcription	Fetal Stomach	stomach
17	chr13:111286200-111293200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
18	chr13:111286200-111296200	Strong transcription	Placenta Amnion	Placenta Amnion
19	chr13:111286200-111296800	Strong transcription	HUES6 Cell Line	embryonic stem cell
20	chr13:111286200-111296800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr13:111286200-111296800	Strong transcription	Primary B cells from peripheral blood	blood
22	chr13:111286200-111296800	Strong transcription	Gastric	stomach
23	chr13:111286200-111297000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
24	chr13:111286200-111297000	Strong transcription	Duodenum Mucosa	Duodenum
25	chr13:111286200-111297000	Strong transcription	Fetal Thymus	thymus
26	chr13:111286200-111297200	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr13:111286200-111297400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
28	chr13:111286200-111299600	Strong transcription	Placenta	Placenta
29	chr13:111286200-111308400	Strong transcription	Dnd41	blood
30	chr13:111286400-111292600	Strong transcription	GM12878-XiMat	blood
31	chr13:111286400-111293000	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr13:111286400-111293000	Strong transcription	Fetal Muscle Leg	muscle
33	chr13:111286400-111293800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
34	chr13:111286400-111296800	Strong transcription	Primary T cells fromperipheralblood	blood
35	chr13:111286400-111296800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
36	chr13:111286400-111296800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
37	chr13:111286400-111297000	Strong transcription	Primary monocytes fromperipheralblood	blood
38	chr13:111286400-111297000	Strong transcription	Primary T cells from cord blood	blood
39	chr13:111286400-111297000	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr13:111286400-111297000	Strong transcription	Rectal Mucosa Donor 29	rectum
41	chr13:111286400-111297200	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
42	chr13:111286400-111297400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
43	chr13:111286400-111299800	Strong transcription	HepG2	liver
44	chr13:111286400-111300400	Strong transcription	Thymus	Thymus
45	chr13:111286400-111308200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
46	chr13:111286600-111292000	Strong transcription	Aorta	Aorta
47	chr13:111286600-111292800	Strong transcription	Duodenum Smooth Muscle	Duodenum
48	chr13:111286600-111292800	Strong transcription	Right Ventricle	heart
49	chr13:111286600-111293000	Strong transcription	Fetal Brain Female	brain
50	chr13:111286600-111293000	Strong transcription	NHLF	lung

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