Variant report

Variant	rs9941300
Chromosome Location	chr16:30756895-30756896
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:4)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:4 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:30756621-30756943	A549	lung:	n/a	n/a
2	MYBL2	chr16:30756311-30756898	HepG2	liver:	n/a	n/a
3	POLR2A	chr16:30756512-30756901	HepG2	liver:	n/a	n/a
4	POLR2A	chr16:30756893-30757013	HepG2	liver:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:30669052..30671027-chr16:30755746..30757539,2	MCF-7	breast:
2	chr16:30716255..30718960-chr16:30754662..30756906,2	MCF-7	breast:
3	chr16:30756860..30759445-chr16:30904243..30907032,3	K562	blood:
4	chr16:30749452..30756439-chr16:30756844..30761929,14	K562	blood:
5	chr16:30738148..30741438-chr16:30755814..30759116,3	K562	blood:

No data

Variant related genes	Relation type
PHKG2	TF binding region
ENSG00000211591	Chromatin interaction
ENSG00000156860	Chromatin interaction
ENSG00000262721	Chromatin interaction
ENSG00000099385	Chromatin interaction
ENSG00000260899	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	0.85[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];0.80[AFR][1000 genomes];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	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2099754	0.87[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2099755	0.87[ASW][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.85[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919430	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919431	1.00[YRI][hapmap];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs2919432	1.00[LWK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs2919433	1.00[AMR][1000 genomes]
rs2972804	0.84[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	1.00[AMR][1000 genomes]
rs4617878	0.87[ASW][hapmap];0.92[MKK][hapmap];0.94[YRI][hapmap];1.00[AMR][1000 genomes]
rs4889488	0.80[AFR][1000 genomes];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];0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs4889501	1.00[AMR][1000 genomes]
rs4889503	1.00[LWK][hapmap];0.94[YRI][hapmap];0.90[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];0.81[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	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs56038936	1.00[AMR][1000 genomes]
rs56209507	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57225118	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57643871	0.80[AFR][1000 genomes];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]
rs7185136	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]
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];0.88[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	1.00[AMR][1000 genomes]
rs73536466	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536474	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536488	1.00[AMR][1000 genomes]
rs73536498	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73536499	0.84[AFR][1000 genomes];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	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs9941201	1.00[YRI][hapmap];0.92[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	chr16:30711800-30757000	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
3	chr16:30711800-30757200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
4	chr16:30712200-30757400	Strong transcription	Fetal Stomach	stomach
5	chr16:30712200-30758800	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
6	chr16:30727600-30757000	Strong transcription	Dnd41	blood
7	chr16:30728800-30757000	Strong transcription	Primary T helper cells fromperipheralblood	blood
8	chr16:30736400-30757000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr16:30736600-30757000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
10	chr16:30737400-30757000	Strong transcription	Fetal Brain Female	brain
11	chr16:30740600-30757000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr16:30740600-30757000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
13	chr16:30740800-30757000	Strong transcription	Primary neutrophils fromperipheralblood	blood
14	chr16:30741000-30757000	Strong transcription	Monocytes-CD14+_RO01746	blood
15	chr16:30741000-30759000	Weak transcription	Fetal Brain Male	brain
16	chr16:30741600-30757000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr16:30743200-30757000	Strong transcription	GM12878-XiMat	blood
18	chr16:30748000-30758800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr16:30749400-30758600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
20	chr16:30749400-30758800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr16:30749800-30758600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr16:30749800-30759000	Weak transcription	Pancreatic Islets	Pancreatic Islet
23	chr16:30750400-30758800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
24	chr16:30750600-30759000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
25	chr16:30751000-30759000	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr16:30751000-30759000	Weak transcription	Small Intestine	intestine
27	chr16:30751200-30758800	Weak transcription	Psoas Muscle	Psoas
28	chr16:30751200-30759000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr16:30751400-30758800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
30	chr16:30752400-30757000	Strong transcription	Primary T cells from cord blood	blood
31	chr16:30752400-30758800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr16:30752400-30759000	Weak transcription	Fetal Kidney	kidney
33	chr16:30752600-30757000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
34	chr16:30752600-30757000	Strong transcription	Fetal Intestine Large	intestine
35	chr16:30753000-30757000	Strong transcription	Brain Hippocampus Middle	brain
36	chr16:30753200-30757000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr16:30753200-30758800	Weak transcription	Right Atrium	heart
38	chr16:30753200-30759000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
39	chr16:30753200-30759000	Weak transcription	Aorta	Aorta
40	chr16:30753400-30757000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr16:30753400-30757000	Strong transcription	Hela-S3	cervix
42	chr16:30753400-30757200	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
43	chr16:30753400-30757200	Strong transcription	HSMM	muscle
44	chr16:30753400-30758600	Strong transcription	NHLF	lung
45	chr16:30753400-30759200	Weak transcription	Gastric	stomach
46	chr16:30753600-30757000	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
47	chr16:30753600-30757000	Strong transcription	Fetal Lung	lung
48	chr16:30753600-30757200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr16:30753600-30757200	Strong transcription	Osteobl	bone
50	chr16:30753600-30758800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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