Variant report

Variant	rs8048656
Chromosome Location	chr16:30796385-30796386
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30795105..30800041-chr16:30931976..30937405,9	MCF-7	breast:
2	chr16:30663068..30664885-chr16:30795979..30797692,2	MCF-7	breast:
3	chr16:30795205..30796826-chr16:30884888..30887413,2	MCF-7	breast:
4	chr14:69261366..69263253-chr16:30794662..30797248,2	MCF-7	breast:
5	chr16:30795079..30800045-chr16:30885501..30888825,9	MCF-7	breast:
6	chr16:30796173..30799338-chr16:30905017..30908309,3	K562	blood:
7	chr16:30767198..30769504-chr16:30795416..30797699,2	MCF-7	breast:
8	chr16:30795368..30800075-chr16:30931111..30935900,11	MCF-7	breast:
9	chr16:30708561..30710776-chr16:30795975..30797727,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000185650	Chromatin interaction
ENSG00000261840	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000150281	Chromatin interaction
ENSG00000080603	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000260083	Chromatin interaction
ENSG00000265991	Chromatin interaction
ENSG00000211591	Chromatin interaction
ENSG00000099364	Chromatin interaction

Extended variants
information (count: 94 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:82)

rs_ID	r²[population]
rs10782000	0.88[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11150594	1.00[AMR][1000 genomes]
rs11150595	0.94[YRI][hapmap]
rs11640414	0.85[AFR][1000 genomes]
rs11648654	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs12596375	1.00[AMR][1000 genomes]
rs12596394	1.00[AMR][1000 genomes]
rs12598056	1.00[AMR][1000 genomes]
rs12931844	1.00[AMR][1000 genomes]
rs12933849	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs1348039	1.00[MKK][hapmap]
rs1530201	1.00[MKK][hapmap]
rs1550477	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs2053426	1.00[AMR][1000 genomes]
rs2099754	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs2099755	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919430	1.00[AMR][1000 genomes]
rs2919431	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919432	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919433	1.00[AMR][1000 genomes]
rs2972804	1.00[AMR][1000 genomes]
rs2972808	0.84[ASW][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];0.88[YRI][hapmap]
rs2972809	0.82[ASW][hapmap];0.81[LWK][hapmap];1.00[MKK][hapmap];0.87[YRI][hapmap]
rs2972815	1.00[AMR][1000 genomes]
rs4617878	0.87[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889488	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889494	1.00[AMR][1000 genomes]
rs4889500	1.00[LWK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889501	1.00[AMR][1000 genomes]
rs4889502	1.00[MKK][hapmap]
rs4889503	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889504	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889505	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889506	1.00[MKK][hapmap]
rs4889508	0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889509	0.94[YRI][hapmap]
rs4889510	1.00[AMR][1000 genomes]
rs4889528	1.00[AMR][1000 genomes]
rs55635617	1.00[AMR][1000 genomes]
rs56038936	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56209507	1.00[AMR][1000 genomes]
rs57225118	1.00[AMR][1000 genomes]
rs57643871	1.00[AMR][1000 genomes]
rs57877247	1.00[AMR][1000 genomes]
rs6420450	1.00[MKK][hapmap]
rs6565203	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565204	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs6565205	1.00[AMR][1000 genomes]
rs6565208	1.00[AMR][1000 genomes]
rs6565209	1.00[AMR][1000 genomes]
rs6565210	1.00[AMR][1000 genomes]
rs7185136	1.00[LWK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs7188077	1.00[AMR][1000 genomes]
rs7188927	1.00[MKK][hapmap]
rs7193412	1.00[AMR][1000 genomes]
rs7194763	1.00[AMR][1000 genomes]
rs7195583	1.00[LWK][hapmap];0.94[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195612	0.84[ASW][hapmap];1.00[AMR][1000 genomes]
rs73524581	1.00[AMR][1000 genomes]
rs73524584	1.00[AMR][1000 genomes]
rs73536457	1.00[AMR][1000 genomes]
rs73536466	1.00[AMR][1000 genomes]
rs73536474	1.00[AMR][1000 genomes]
rs73536488	1.00[AMR][1000 genomes]
rs73536498	1.00[AMR][1000 genomes]
rs73536499	1.00[AMR][1000 genomes]
rs8045484	0.93[YRI][hapmap]
rs8045550	1.00[AMR][1000 genomes]
rs8045624	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs8046609	1.00[AMR][1000 genomes]
rs8047743	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8049589	1.00[AMR][1000 genomes]
rs8050578	1.00[YRI][hapmap];0.98[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs8058475	1.00[AMR][1000 genomes]
rs893924	1.00[MKK][hapmap]
rs893925	1.00[MKK][hapmap]
rs893926	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs893927	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs9921630	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs9934046	1.00[AMR][1000 genomes]
rs9941201	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs9941300	1.00[LWK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:12 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
3	nsv469724	chr16:30632445-30840263	Strong transcription Transcr. at gene 5' and 3' Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
4	nsv482704	chr16:30632445-30840263	Enhancers Active TSS Weak transcription Genic enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
5	nsv833188	chr16:30632446-30840263	Active TSS Weak transcription Genic enhancers Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	143 gene(s)	inside rSNPs	diseases
6	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
7	nsv905728	chr16:30642867-30928970	Flanking Active TSS Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	171 gene(s)	inside rSNPs	diseases
8	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
9	esv1825223	chr16:30669091-30971810	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	191 gene(s)	inside rSNPs	diseases
10	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
11	nsv9438	chr16:30770203-30799442	Strong transcription Flanking Active TSS Genic enhancers Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
12	nsv905732	chr16:30788182-30837210	Enhancers Active TSS Flanking Active TSS Weak transcription Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30787600-30797600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
2	chr16:30787800-30797200	Weak transcription	HMEC	breast
3	chr16:30787800-30797200	Weak transcription	HUVEC	blood vessel
4	chr16:30787800-30797400	Weak transcription	Primary T helper cells PMA-I stimulated	--
5	chr16:30787800-30797400	Weak transcription	Pancreatic Islets	Pancreatic Islet
6	chr16:30788200-30796800	Weak transcription	Fetal Brain Male	brain
7	chr16:30788200-30797200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
8	chr16:30788600-30796800	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
9	chr16:30789400-30796400	Strong transcription	Fetal Intestine Small	intestine
10	chr16:30789600-30796600	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr16:30789800-30796800	Weak transcription	Psoas Muscle	Psoas
12	chr16:30790000-30796600	Strong transcription	Cortex derived primary cultured neurospheres	brain
13	chr16:30790200-30796400	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr16:30790200-30797400	Weak transcription	Fetal Kidney	kidney
15	chr16:30790400-30796800	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr16:30790400-30796800	Weak transcription	Hela-S3	cervix
17	chr16:30790400-30797000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
18	chr16:30790400-30797000	Strong transcription	Fetal Brain Female	brain
19	chr16:30790600-30796600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
20	chr16:30790600-30796800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr16:30790800-30796400	Strong transcription	Fetal Muscle Leg	muscle
22	chr16:30790800-30796600	Weak transcription	K562	blood
23	chr16:30791000-30796400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr16:30791000-30796800	Strong transcription	Placenta	Placenta
25	chr16:30791000-30797400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr16:30791200-30796400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
27	chr16:30791400-30796400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:30791800-30796400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr16:30791800-30796600	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr16:30791800-30797000	Strong transcription	Lung	lung
31	chr16:30792200-30796400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
32	chr16:30792400-30796600	Strong transcription	HepG2	liver
33	chr16:30792800-30796600	Strong transcription	Colon Smooth Muscle	Colon
34	chr16:30792800-30797200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
35	chr16:30793000-30796600	Strong transcription	Brain Anterior Caudate	brain
36	chr16:30793200-30796800	Strong transcription	Colonic Mucosa	Colon
37	chr16:30793600-30797200	Weak transcription	NH-A	brain
38	chr16:30793800-30796400	Weak transcription	HSMM	muscle
39	chr16:30794000-30797400	Weak transcription	Stomach Mucosa	stomach
40	chr16:30794800-30797400	Weak transcription	Rectal Mucosa Donor 29	rectum
41	chr16:30795000-30796400	Weak transcription	Liver	Liver
42	chr16:30795000-30796600	Weak transcription	Osteobl	bone
43	chr16:30795000-30797200	Weak transcription	Primary T helper cells fromperipheralblood	blood
44	chr16:30795000-30797400	Weak transcription	Primary B cells from cord blood	blood
45	chr16:30795000-30797400	Weak transcription	Primary hematopoietic stem cells	blood
46	chr16:30795000-30797400	Weak transcription	Fetal Lung	lung
47	chr16:30795200-30796400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr16:30795200-30796400	Strong transcription	Fetal Intestine Large	intestine
49	chr16:30795200-30796400	Weak transcription	Pancreas	Pancrea
50	chr16:30795200-30796400	Weak transcription	Skeletal Muscle Female	skeletal muscle

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