Variant report

Variant	rs9595835
Chromosome Location	chr13:48628449-48628450
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr13:48612034..48614916-chr13:48627197..48628916,2	MCF-7	breast:
2	chr13:48610409..48612253-chr13:48626118..48629626,3	MCF-7	breast:
3	chr13:48619636..48622232-chr13:48625970..48628449,2	K562	blood:

Variant related genes	Relation type
ENSG00000136159	Chromatin interaction
ENSG00000136143	Chromatin interaction

Extended variants
information (count: 73 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:71)

rs_ID	r²[population]
rs1327655	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs17350996	0.84[EUR][1000 genomes]
rs17425881	0.90[TSI][hapmap]
rs2025865	0.84[EUR][1000 genomes]
rs2296573	0.90[TSI][hapmap]
rs35299472	0.81[EUR][1000 genomes]
rs3809330	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4941627	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4942742	0.99[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4942743	1.00[CEU][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4942747	0.94[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4942748	0.80[EUR][1000 genomes]
rs4942749	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4942750	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4942751	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4942752	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs59829900	0.80[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs6561434	0.95[AFR][1000 genomes];0.95[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7317431	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7318704	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs7322766	0.86[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7323969	0.84[EUR][1000 genomes]
rs7331551	0.87[EUR][1000 genomes]
rs7332147	0.96[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7332326	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7333237	0.86[AFR][1000 genomes];0.94[ASN][1000 genomes]
rs7333247	0.90[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs7338844	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7338999	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7339370	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs7981114	0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs7986400	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs7990060	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9285165	0.84[EUR][1000 genomes]
rs9316346	0.93[TSI][hapmap];0.86[EUR][1000 genomes]
rs9316347	0.86[EUR][1000 genomes]
rs9316348	0.82[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];0.98[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.98[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9316349	0.93[TSI][hapmap];0.84[EUR][1000 genomes]
rs9316352	0.83[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs9316353	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9316354	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9316355	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9316356	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9316357	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9316358	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9316359	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9562800	0.88[EUR][1000 genomes]
rs9562806	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9562808	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs9567993	0.84[EUR][1000 genomes]
rs9567994	0.88[CEU][hapmap]
rs9567999	0.91[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9568000	0.92[EUR][1000 genomes]
rs9568001	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9568002	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9568003	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9568004	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9568005	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9568006	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9568008	0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9568009	0.96[EUR][1000 genomes]
rs9568010	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs9568014	0.94[CEU][hapmap];0.83[YRI][hapmap];0.85[AMR][1000 genomes]
rs9591135	0.96[AFR][1000 genomes];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs9591138	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9591139	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs9591140	0.84[EUR][1000 genomes]
rs9595836	0.88[EUR][1000 genomes]
rs9595837	0.84[EUR][1000 genomes]
rs9595843	0.84[EUR][1000 genomes]
rs9595851	0.85[AMR][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	nsv430556	chr13:48516799-48679099	ZNF genes & repeats Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv832601	chr13:48569952-48735939	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr13:48612600-48631600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr13:48612600-48640400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
3	chr13:48612600-48645000	Weak transcription	Stomach Mucosa	stomach
4	chr13:48612800-48640200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
5	chr13:48612800-48640400	Weak transcription	Psoas Muscle	Psoas
6	chr13:48613000-48640200	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr13:48613000-48640400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr13:48613200-48629000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr13:48613200-48631800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr13:48613200-48640400	Weak transcription	Fetal Heart	heart
11	chr13:48613200-48641600	Weak transcription	Pancreatic Islets	Pancreatic Islet
12	chr13:48613200-48642200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr13:48613400-48641600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
14	chr13:48613400-48647000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
15	chr13:48613600-48636400	Weak transcription	Hela-S3	cervix
16	chr13:48613600-48645000	Weak transcription	Small Intestine	intestine
17	chr13:48614400-48628600	Strong transcription	HUES64 Cell Line	embryonic stem cell
18	chr13:48614400-48636400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
19	chr13:48616400-48642800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr13:48618800-48644800	Weak transcription	Colonic Mucosa	Colon
21	chr13:48619600-48630200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
22	chr13:48620000-48629000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
23	chr13:48620000-48629000	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
24	chr13:48620200-48628600	Strong transcription	Breast Myoepithelial Primary Cells	Breast
25	chr13:48620200-48629600	Strong transcription	Fetal Intestine Large	intestine
26	chr13:48620200-48630400	Strong transcription	Monocytes-CD14+_RO01746	blood
27	chr13:48621000-48629000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
28	chr13:48621400-48628800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
29	chr13:48621400-48629000	Strong transcription	Liver	Liver
30	chr13:48621600-48628800	Strong transcription	Primary T helper cells fromperipheralblood	blood
31	chr13:48622000-48628600	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
32	chr13:48622000-48628600	Strong transcription	Primary T helper cells PMA-I stimulated	--
33	chr13:48622000-48629000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr13:48622200-48628800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
35	chr13:48622200-48630400	Strong transcription	Primary neutrophils fromperipheralblood	blood
36	chr13:48622400-48629000	Strong transcription	Primary hematopoietic stem cells	blood
37	chr13:48623200-48640200	Weak transcription	Colon Smooth Muscle	Colon
38	chr13:48623200-48652200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
39	chr13:48623400-48630000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
40	chr13:48624200-48628600	Strong transcription	Osteobl	bone
41	chr13:48624200-48629000	Strong transcription	Rectal Mucosa Donor 31	rectum
42	chr13:48624400-48629000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr13:48624600-48628600	Strong transcription	HUES48 Cell Line	embryonic stem cell
44	chr13:48624600-48628600	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
45	chr13:48624800-48629600	Strong transcription	HMEC	breast
46	chr13:48625200-48628800	Strong transcription	Primary B cells from cord blood	blood
47	chr13:48625600-48631400	Weak transcription	H1 Cell Line	embryonic stem cell
48	chr13:48625600-48631400	Weak transcription	Fetal Intestine Small	intestine
49	chr13:48625600-48636400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
50	chr13:48625600-48640200	Weak transcription	Fetal Kidney	kidney

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