Variant report

Variant	rs7185136
Chromosome Location	chr16:30753808-30753809
allele	A/G
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:16)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:16 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30708644..30710910-chr16:30752082..30754058,3	K562	blood:
2	chr16:30669616..30672714-chr16:30750078..30754286,5	MCF-7	breast:
3	chr16:30737329..30740063-chr16:30752777..30754336,2	MCF-7	breast:
4	chr16:30752719..30755396-chr16:30959719..30962976,4	MCF-7	breast:
5	chr16:30752868..30755016-chr16:30765682..30767341,2	MCF-7	breast:
6	chr16:30749452..30756439-chr16:30756844..30761929,14	K562	blood:
7	chr16:30707234..30713291-chr16:30747398..30755461,17	MCF-7	breast:
8	chr16:30668245..30671978-chr16:30750248..30754870,9	MCF-7	breast:
9	chr16:30749500..30754511-chr16:30932304..30935822,6	MCF-7	breast:
10	chr16:30735053..30736576-chr16:30753031..30754754,2	MCF-7	breast:
11	chr16:30749452..30756542-chr16:30785692..30792123,12	MCF-7	breast:
12	chr16:30694028..30695541-chr16:30752962..30755858,2	MCF-7	breast:
13	chr16:30749695..30756203-chr16:30770648..30776596,12	K562	blood:
14	chr16:30749130..30756602-chr16:30770748..30777685,19	MCF-7	breast:
15	chr16:30707689..30714423-chr16:30749050..30754714,18	MCF-7	breast:
16	chr16:30752306..30754286-chr16:30815275..30817609,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000261840	Chromatin interaction
ENSG00000156873	Chromatin interaction
ENSG00000222287	Chromatin interaction
ENSG00000099364	Chromatin interaction
ENSG00000261487	Chromatin interaction
ENSG00000262026	Chromatin interaction
ENSG00000175938	Chromatin interaction
ENSG00000196118	Chromatin interaction
ENSG00000260852	Chromatin interaction
ENSG00000103549	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000080603	Chromatin interaction

Extended variants
information (count: 85 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:75)

rs_ID	r²[population]
rs10782000	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs11150594	0.89[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs11150595	0.87[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap]
rs11648654	1.00[AMR][1000 genomes]
rs12596375	0.87[ASW][hapmap];1.00[AMR][1000 genomes]
rs12596394	1.00[AMR][1000 genomes]
rs12598056	1.00[AMR][1000 genomes]
rs12931844	1.00[AMR][1000 genomes]
rs12933849	1.00[AMR][1000 genomes]
rs1530203	0.87[ASW][hapmap];0.83[YRI][hapmap]
rs1550477	0.87[ASW][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs2053426	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2099754	0.87[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2099755	0.87[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919430	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919431	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919432	1.00[LWK][hapmap];0.94[YRI][hapmap];0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919433	1.00[AMR][1000 genomes]
rs2972804	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2972808	0.81[LWK][hapmap];0.82[YRI][hapmap]
rs2972809	0.81[LWK][hapmap];0.81[YRI][hapmap]
rs2972815	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4617878	0.87[ASW][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889488	1.00[AMR][1000 genomes]
rs4889494	1.00[AMR][1000 genomes]
rs4889500	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889501	1.00[AMR][1000 genomes]
rs4889503	1.00[LWK][hapmap];0.94[YRI][hapmap];0.93[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889504	0.87[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889505	1.00[LWK][hapmap];0.94[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889508	0.88[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889509	0.87[ASW][hapmap];1.00[YRI][hapmap]
rs4889510	1.00[AMR][1000 genomes]
rs4889528	1.00[AMR][1000 genomes]
rs55635617	1.00[AMR][1000 genomes]
rs56038936	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]
rs6565198	0.83[YRI][hapmap]
rs6565203	1.00[AMR][1000 genomes]
rs6565204	1.00[AMR][1000 genomes]
rs6565205	1.00[AMR][1000 genomes]
rs6565208	1.00[ASW][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs6565209	1.00[AMR][1000 genomes]
rs6565210	1.00[AMR][1000 genomes]
rs7188077	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs7193412	1.00[AMR][1000 genomes]
rs7194763	1.00[AMR][1000 genomes]
rs7195583	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs7195612	0.86[ASW][hapmap];0.83[YRI][hapmap];1.00[AMR][1000 genomes]
rs73524581	1.00[AMR][1000 genomes]
rs73524584	1.00[AMR][1000 genomes]
rs73536457	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536466	1.00[AMR][1000 genomes]
rs73536474	1.00[AMR][1000 genomes]
rs73536488	0.81[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536498	1.00[AMR][1000 genomes]
rs73536499	1.00[AMR][1000 genomes]
rs8045484	0.87[ASW][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap]
rs8045550	1.00[AMR][1000 genomes]
rs8045624	0.87[ASW][hapmap];0.85[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs8046609	1.00[AMR][1000 genomes]
rs8047743	1.00[AMR][1000 genomes]
rs8048656	1.00[LWK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs8049589	1.00[AMR][1000 genomes]
rs8050578	0.93[YRI][hapmap];1.00[AMR][1000 genomes]
rs8058475	1.00[AMR][1000 genomes]
rs893926	0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs893927	0.87[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9921630	0.87[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9934046	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941201	1.00[YRI][hapmap];0.88[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941300	1.00[ASW][hapmap];1.00[LWK][hapmap];1.00[MKK][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 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

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:30711400-30757000	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
2	chr16:30711600-30756200	Strong transcription	Thymus	Thymus
3	chr16:30711800-30757000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr16:30711800-30757200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
5	chr16:30712000-30756600	Strong transcription	Cortex derived primary cultured neurospheres	brain
6	chr16:30712200-30754200	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
7	chr16:30712200-30755000	Strong transcription	Fetal Muscle Trunk	muscle
8	chr16:30712200-30757400	Strong transcription	Fetal Stomach	stomach
9	chr16:30712200-30758800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
10	chr16:30721600-30756800	Strong transcription	Fetal Thymus	thymus
11	chr16:30727600-30757000	Strong transcription	Dnd41	blood
12	chr16:30728800-30757000	Strong transcription	Primary T helper cells fromperipheralblood	blood
13	chr16:30736400-30757000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
14	chr16:30736600-30757000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr16:30737400-30757000	Strong transcription	Fetal Brain Female	brain
16	chr16:30739400-30754000	Strong transcription	Primary B cells from peripheral blood	blood
17	chr16:30740600-30757000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
18	chr16:30740600-30757000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
19	chr16:30740800-30757000	Strong transcription	Primary neutrophils fromperipheralblood	blood
20	chr16:30741000-30754200	Strong transcription	Primary hematopoietic stem cells	blood
21	chr16:30741000-30756800	Strong transcription	Primary monocytes fromperipheralblood	blood
22	chr16:30741000-30757000	Strong transcription	Monocytes-CD14+_RO01746	blood
23	chr16:30741000-30759000	Weak transcription	Fetal Brain Male	brain
24	chr16:30741600-30757000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
25	chr16:30743200-30757000	Strong transcription	GM12878-XiMat	blood
26	chr16:30748000-30758800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
27	chr16:30749400-30758600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
28	chr16:30749400-30758800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
29	chr16:30749800-30758600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr16:30749800-30759000	Weak transcription	Pancreatic Islets	Pancreatic Islet
31	chr16:30750400-30758800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr16:30750600-30759000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
33	chr16:30751000-30754800	Weak transcription	Brain Substantia Nigra	brain
34	chr16:30751000-30759000	Weak transcription	H9 Cell Line	embryonic stem cell
35	chr16:30751000-30759000	Weak transcription	Small Intestine	intestine
36	chr16:30751200-30754000	Enhancers	Colonic Mucosa	Colon
37	chr16:30751200-30754000	Enhancers	Pancreas	Pancrea
38	chr16:30751200-30755200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
39	chr16:30751200-30755600	Strong transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr16:30751200-30758800	Weak transcription	Psoas Muscle	Psoas
41	chr16:30751200-30759000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
42	chr16:30751400-30758800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
43	chr16:30752000-30756800	Strong transcription	Fetal Muscle Leg	muscle
44	chr16:30752200-30754000	Strong transcription	Brain Germinal Matrix	brain
45	chr16:30752200-30755000	Weak transcription	Ovary	ovary
46	chr16:30752400-30756800	Strong transcription	H1 Cell Line	embryonic stem cell
47	chr16:30752400-30756800	Strong transcription	K562	blood
48	chr16:30752400-30757000	Strong transcription	Primary T cells from cord blood	blood
49	chr16:30752400-30758800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr16:30752400-30759000	Weak transcription	Fetal Kidney	kidney

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