Variant report

Variant	rs13172774
Chromosome Location	chr5:112925439-112925440
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr5:112919623..112922323-chr5:112924895..112926616,2	MCF-7	breast:

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs10037429	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs10072577	0.91[ASN][1000 genomes]
rs1035409	0.82[ASN][1000 genomes]
rs11739848	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11744710	1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11744737	1.00[CHB][hapmap];0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11745445	1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746529	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11746565	0.91[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11747062	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs11953034	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13153791	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13160021	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13161610	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13161969	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13166822	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13167659	0.91[ASN][1000 genomes]
rs13170908	1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13171273	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13171389	0.80[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs13180262	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13187776	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs164252	1.00[CHB][hapmap];1.00[JPT][hapmap]
rs17332053	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.92[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs17333442	0.90[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs182988	1.00[CHB][hapmap]
rs255857	1.00[CHB][hapmap]
rs26965	1.00[CHB][hapmap]
rs26980	1.00[CHB][hapmap]
rs26982	1.00[CHB][hapmap]
rs26989	1.00[CHB][hapmap]
rs26990	1.00[CHB][hapmap]
rs2860483	1.00[CHB][hapmap];0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs2910017	0.87[AFR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2914151	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs2914152	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34158516	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34554590	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs34870059	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs348919	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs348921	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs348922	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs348923	0.87[AFR][1000 genomes]
rs348934	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs348935	1.00[CHB][hapmap];1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs348939	1.00[CHB][hapmap]
rs35077609	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs35274088	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs35364742	1.00[AFR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs36613	1.00[CHB][hapmap]
rs3763141	1.00[CHB][hapmap];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs414475	1.00[CHB][hapmap];1.00[AFR][1000 genomes]
rs419483	0.87[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs421515	1.00[AFR][1000 genomes]
rs4410636	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs446272	1.00[CHB][hapmap]
rs458055	1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AFR][1000 genomes]
rs4705554	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4705829	1.00[CHB][hapmap];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs58479323	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6594727	1.00[AFR][1000 genomes];0.82[ASN][1000 genomes]
rs66838021	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67382821	0.81[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs67881502	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs68131815	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs71577453	0.87[AFR][1000 genomes];0.91[ASN][1000 genomes]
rs7703186	0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs7705255	0.90[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7736165	0.81[EUR][1000 genomes];0.91[ASN][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	nsv882721	chr5:112859994-112963488	Weak transcription Strong transcription ZNF genes & repeats Enhancers Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
2	nsv882724	chr5:112868878-112933202	Strong transcription Weak transcription ZNF genes & repeats Enhancers Flanking Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
3	nsv1033202	chr5:112891857-112945992	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
4	nsv520674	chr5:112911165-112942820	Weak transcription Strong transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
5	esv2752057	chr5:112916398-112945992	Weak transcription Strong transcription Enhancers Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
6	nsv1029507	chr5:112916398-112945992	Strong transcription Weak transcription Genic enhancers Enhancers Bivalent Enhancer Active TSS Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
7	esv2763910	chr5:112916398-112951827	Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Flanking Active TSS	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases
8	nsv1031336	chr5:112916398-112956588	Weak transcription Strong transcription Enhancers Bivalent Enhancer Genic enhancers Flanking Active TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region miRNA target site	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:112867400-112926000	Weak transcription	Small Intestine	intestine
2	chr5:112867400-112933000	Weak transcription	H9 Cell Line	embryonic stem cell
3	chr5:112870200-112930800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr5:112889400-112930600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr5:112899400-112929400	Weak transcription	HepG2	liver
6	chr5:112904600-112934800	Weak transcription	Psoas Muscle	Psoas
7	chr5:112907400-112932000	Weak transcription	Rectal Smooth Muscle	rectum
8	chr5:112908800-112935200	Weak transcription	Pancreatic Islets	Pancreatic Islet
9	chr5:112910600-112927000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
10	chr5:112910600-112927600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
11	chr5:112910600-112927800	Weak transcription	H1 Cell Line	embryonic stem cell
12	chr5:112910600-112933400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr5:112910600-112935200	Weak transcription	Spleen	Spleen
14	chr5:112910600-112935400	Weak transcription	Colon Smooth Muscle	Colon
15	chr5:112910600-112936600	Weak transcription	Colonic Mucosa	Colon
16	chr5:112910600-112942000	Weak transcription	Brain Substantia Nigra	brain
17	chr5:112910800-112927600	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr5:112910800-112928400	Weak transcription	A549	lung
19	chr5:112910800-112928600	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
20	chr5:112910800-112929200	Weak transcription	Right Ventricle	heart
21	chr5:112910800-112929400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
22	chr5:112910800-112930400	Weak transcription	Cortex derived primary cultured neurospheres	brain
23	chr5:112910800-112933600	Weak transcription	Brain Cingulate Gyrus	brain
24	chr5:112910800-112933600	Weak transcription	Fetal Stomach	stomach
25	chr5:112910800-112934600	Weak transcription	Gastric	stomach
26	chr5:112910800-112935000	Weak transcription	Pancreas	Pancrea
27	chr5:112910800-112935200	Weak transcription	Esophagus	oesophagus
28	chr5:112910800-112937400	Weak transcription	Fetal Intestine Small	intestine
29	chr5:112910800-112938200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr5:112910800-112942200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr5:112911000-112930000	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr5:112911200-112929000	Weak transcription	Skeletal Muscle Male	skeletal muscle
33	chr5:112916000-112931400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr5:112916400-112926800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr5:112916400-112929200	Weak transcription	Lung	lung
36	chr5:112916400-112930400	Weak transcription	NHLF	lung
37	chr5:112916400-112933000	Weak transcription	Thymus	Thymus
38	chr5:112916400-112933400	Weak transcription	Aorta	Aorta
39	chr5:112916800-112928600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr5:112916800-112928600	Weak transcription	NH-A	brain
41	chr5:112916800-112936000	Weak transcription	Fetal Heart	heart
42	chr5:112917200-112926200	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr5:112917200-112926600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
44	chr5:112917200-112942000	Weak transcription	K562	blood
45	chr5:112917400-112925600	Weak transcription	Rectal Mucosa Donor 31	rectum
46	chr5:112917400-112926000	Weak transcription	Primary T cells from cord blood	blood
47	chr5:112917400-112926600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
48	chr5:112917400-112926600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
49	chr5:112917400-112926800	Weak transcription	HUVEC	blood vessel
50	chr5:112917400-112927400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood

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