Variant report

Variant	rs3784936
Chromosome Location	chr16:75337583-75337584
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr16:75282402..75286042-chr16:75337577..75341093,9	MCF-7	breast:
2	chr16:75332346..75334763-chr16:75336169..75339103,3	MCF-7	breast:

Variant related genes	Relation type
ENSG00000050820	Chromatin interaction

Extended variants
information (count: 160 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:154)

rs_ID	r²[population]
rs1011121	0.83[CHB][hapmap]
rs1017239	0.91[CHB][hapmap];1.00[JPT][hapmap];0.94[ASN][1000 genomes]
rs10514393	0.87[CHB][hapmap];0.87[JPT][hapmap];0.82[ASN][1000 genomes]
rs10514396	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs1074961	0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10781976	0.83[CHB][hapmap]
rs10781977	0.95[CHB][hapmap];1.00[JPT][hapmap];0.96[ASN][1000 genomes]
rs10871307	0.85[AFR][1000 genomes];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10871308	0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[ASN][1000 genomes]
rs1109342	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs11149812	1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[JPT][hapmap];0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11149813	1.00[CHB][hapmap];0.95[JPT][hapmap];0.97[ASN][1000 genomes]
rs11149814	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11149815	0.82[CHB][hapmap];0.89[JPT][hapmap]
rs11149816	0.93[ASN][1000 genomes]
rs11149831	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs11640018	0.83[CHB][hapmap]
rs11641532	0.83[CHB][hapmap]
rs11645329	0.81[ASN][1000 genomes]
rs11645691	1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[ASN][1000 genomes]
rs11646418	1.00[CEU][hapmap];0.91[YRI][hapmap];0.81[AMR][1000 genomes];0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11646677	0.83[CHB][hapmap]
rs12149063	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs12444589	0.83[CHB][hapmap]
rs12445188	0.96[ASN][1000 genomes]
rs12445211	0.88[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12445813	0.90[CHB][hapmap];1.00[JPT][hapmap];0.97[ASN][1000 genomes]
rs12446903	0.91[ASN][1000 genomes]
rs12449177	0.97[ASN][1000 genomes]
rs12922897	0.81[ASN][1000 genomes]
rs12932952	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs12933281	0.82[CHB][hapmap]
rs12935329	0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1364078	0.83[CHB][hapmap];0.85[JPT][hapmap]
rs1549306	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs1559339	0.83[CHB][hapmap]
rs17696696	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs17696749	0.83[CHB][hapmap]
rs185052	1.00[CEU][hapmap];0.87[CHB][hapmap];0.91[JPT][hapmap]
rs1862705	0.95[CHB][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1862706	0.83[JPT][hapmap]
rs1895489	0.88[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1895490	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs2032926	0.94[ASN][1000 genomes]
rs2059256	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs2059257	1.00[CEU][hapmap];1.00[CHB][hapmap];0.91[JPT][hapmap];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs2161648	0.83[CHB][hapmap]
rs2161684	0.82[CHB][hapmap]
rs2242405	0.91[CHB][hapmap];0.95[JPT][hapmap]
rs247423	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs247424	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs247425	0.86[ASN][1000 genomes]
rs247427	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.82[YRI][hapmap];0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs247431	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs247434	0.82[AFR][1000 genomes];0.90[ASN][1000 genomes]
rs247436	0.82[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs247437	0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs247438	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.84[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs247447	1.00[CEU][hapmap];0.82[JPT][hapmap]
rs2865527	0.87[ASN][1000 genomes]
rs2865530	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs2865531	0.83[JPT][hapmap]
rs2865532	0.86[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs2903033	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs35263058	0.83[JPT][hapmap]
rs3743606	0.80[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs37602	1.00[CEU][hapmap];0.86[CHB][hapmap];0.91[JPT][hapmap]
rs3784937	1.00[ASN][1000 genomes]
rs3844219	0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3851733	0.83[JPT][hapmap]
rs3851735	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3851736	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs3851739	0.80[ASN][1000 genomes]
rs3863445	0.83[JPT][hapmap]
rs4146809	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs4146810	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs4243111	0.83[CHB][hapmap]
rs42472	1.00[CEU][hapmap];0.90[CHB][hapmap];0.85[JPT][hapmap]
rs4536500	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.95[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs455407	0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4638613	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs467223	0.90[ASN][1000 genomes]
rs467780	0.81[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs468079	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4887812	0.92[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4887813	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4887814	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4887823	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs4887824	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs4887828	0.89[CHB][hapmap];0.95[JPT][hapmap]
rs4888369	0.81[AFR][1000 genomes];0.81[EUR][1000 genomes]
rs4888370	0.81[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs4888371	0.85[ASN][1000 genomes]
rs4888374	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4888375	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4888376	0.83[CHB][hapmap]
rs4888377	0.84[CHB][hapmap]
rs4888378	0.83[CHB][hapmap]
rs4888379	0.83[CHB][hapmap];0.83[JPT][hapmap];0.82[ASN][1000 genomes]
rs4888380	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs4888381	0.84[AMR][1000 genomes];0.97[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4888383	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs4888386	0.83[JPT][hapmap]
rs4888387	0.83[JPT][hapmap]
rs4888388	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs4888389	0.83[JPT][hapmap]
rs4888393	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.90[YRI][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888394	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888395	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs4888396	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs4888397	0.88[ASN][1000 genomes]
rs4888398	0.91[ASN][1000 genomes]
rs4888405	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs4888415	0.82[JPT][hapmap]
rs4888416	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs4888425	0.82[CHB][hapmap]
rs4888430	0.86[CHB][hapmap]
rs4993969	0.83[CHB][hapmap]
rs4993971	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6564245	0.94[AFR][1000 genomes];0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs6564249	0.86[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6564256	0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs7187263	0.81[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7187690	0.93[CEU][hapmap];0.81[AMR][1000 genomes]
rs7188604	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs7189407	1.00[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs7192155	0.91[ASN][1000 genomes]
rs7199132	0.83[CHB][hapmap];0.81[JPT][hapmap]
rs7199680	0.88[ASN][1000 genomes]
rs7202284	1.00[CEU][hapmap];0.86[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.90[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7203157	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs7204984	0.82[CHB][hapmap]
rs766521	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs766522	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8046109	0.82[CHB][hapmap];0.83[JPT][hapmap]
rs8046184	0.84[AFR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8046416	0.86[CHB][hapmap];0.95[JPT][hapmap]
rs8046949	0.91[ASN][1000 genomes]
rs8047811	0.84[ASN][1000 genomes]
rs8048677	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8048816	1.00[CHB][hapmap];1.00[JPT][hapmap];0.91[ASN][1000 genomes]
rs8049611	0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8050059	0.83[CHB][hapmap];0.83[JPT][hapmap]
rs8050662	1.00[CEU][hapmap];0.91[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8051611	0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs8051785	0.92[ASN][1000 genomes]
rs8053632	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs8054586	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8055609	1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[JPT][hapmap];0.89[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs889446	0.91[JPT][hapmap];1.00[ASN][1000 genomes]
rs9922008	0.85[CHB][hapmap];0.81[ASN][1000 genomes]
rs9933956	0.82[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs9934007	0.95[CHB][hapmap];1.00[JPT][hapmap];0.92[ASN][1000 genomes]
rs9989421	0.91[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
2	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
3	nsv916502	chr16:74845880-75732365	Enhancers Weak transcription Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	131 gene(s)	inside rSNPs	diseases
4	nsv523405	chr16:75227969-75342846	Transcr. at gene 5' and 3' Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases
5	nsv931939	chr16:75261354-75765025	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
6	nsv833283	chr16:75302175-75392308	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs3784936	CFDP1	Cis_1M	lymphoblastoid	RTeQTL

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:75317400-75358000	Weak transcription	Fetal Brain Male	brain
2	chr16:75320800-75339000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
3	chr16:75321800-75337600	Weak transcription	A549	lung
4	chr16:75322000-75337600	Strong transcription	Fetal Intestine Large	intestine
5	chr16:75322400-75338000	Weak transcription	Stomach Mucosa	stomach
6	chr16:75323200-75337800	Strong transcription	Rectal Mucosa Donor 29	rectum
7	chr16:75323400-75338200	Weak transcription	NH-A	brain
8	chr16:75323600-75339000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
9	chr16:75323600-75339000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
10	chr16:75323600-75339200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
11	chr16:75323800-75337800	Strong transcription	Sigmoid Colon	Sigmoid Colon
12	chr16:75323800-75338400	Strong transcription	Dnd41	blood
13	chr16:75323800-75339000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr16:75324000-75338400	Weak transcription	Pancreatic Islets	Pancreatic Islet
15	chr16:75324000-75338800	Strong transcription	Primary T helper cells fromperipheralblood	blood
16	chr16:75324600-75337800	Strong transcription	Monocytes-CD14+_RO01746	blood
17	chr16:75324800-75340200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
18	chr16:75325000-75339600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr16:75325200-75338800	Strong transcription	Primary T cells from cord blood	blood
20	chr16:75325200-75340800	Strong transcription	iPS-20b Cell Line	embryonic stem cell
21	chr16:75326200-75338800	Strong transcription	Primary T helper cells PMA-I stimulated	--
22	chr16:75326200-75339000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr16:75327000-75339200	Weak transcription	Fetal Kidney	kidney
24	chr16:75327400-75339200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr16:75328000-75337600	Strong transcription	Fetal Intestine Small	intestine
26	chr16:75328200-75337800	Weak transcription	Hela-S3	cervix
27	chr16:75328600-75339400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
28	chr16:75329000-75340400	Strong transcription	Thymus	Thymus
29	chr16:75329200-75338000	Strong transcription	Placenta	Placenta
30	chr16:75329200-75339200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
31	chr16:75329600-75339000	Strong transcription	Primary T cells fromperipheralblood	blood
32	chr16:75330200-75338600	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
33	chr16:75330400-75338800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
34	chr16:75330800-75338400	Strong transcription	Fetal Stomach	stomach
35	chr16:75330800-75338800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr16:75331000-75338200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr16:75331200-75339000	Strong transcription	HUES64 Cell Line	embryonic stem cell
38	chr16:75331400-75337600	Weak transcription	HUVEC	blood vessel
39	chr16:75331400-75338000	Weak transcription	Fetal Heart	heart
40	chr16:75331400-75338400	Strong transcription	Fetal Thymus	thymus
41	chr16:75331400-75338800	Strong transcription	Primary B cells from peripheral blood	blood
42	chr16:75331600-75338000	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
43	chr16:75331600-75338200	Weak transcription	Right Atrium	heart
44	chr16:75331800-75338000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr16:75332000-75339800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
46	chr16:75332200-75337800	Strong transcription	Skeletal Muscle Female	skeletal muscle
47	chr16:75332200-75338000	Strong transcription	Adipose Nuclei	Adipose
48	chr16:75332200-75338400	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
49	chr16:75332200-75338600	Strong transcription	HUES6 Cell Line	embryonic stem cell
50	chr16:75332200-75338800	Strong transcription	H9 Cell Line	embryonic stem cell

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