Variant report

Variant	rs8049043
Chromosome Location	chr16:31146739-31146740
allele	C/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:11)
LncRNA
region (count:2)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr16:31144837..31147440-chr16:31190449..31192912,2	K562	blood:
2	chr16:31146560..31148604-chr16:31190124..31192018,2	K562	blood:
3	chr16:30993343..30997625-chr16:31144805..31148510,3	MCF-7	breast:
4	chr16:31144485..31148429-chr16:31189146..31193121,7	MCF-7	breast:
5	chr16:31144729..31147101-chr16:31468783..31472042,3	MCF-7	breast:
6	chr16:31083033..31088054-chr16:31143674..31155673,17	MCF-7	breast:
7	chr16:31139340..31148115-chr16:31189133..31193213,16	MCF-7	breast:
8	chr16:31118494..31122515-chr16:31143591..31148259,6	MCF-7	breast:
9	chr16:31146490..31149050-chr16:31153299..31154926,2	K562	blood:
10	chr16:31145063..31147795-chr16:31225870..31228416,3	MCF-7	breast:
11	chr16:31083950..31086664-chr16:31145533..31147488,3	MCF-7	breast:

(count:2 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-PRSS36-1	chr16:31146735-31147048	NONHSAT141870
2	lnc-PRSS36-1	chr16:31146735-31147024	NONHSAT141871

No data

Variant related genes	Relation type
ENSG00000169900	Chromatin interaction
ENSG00000260267	Chromatin interaction
ENSG00000140691	Chromatin interaction
ENSG00000252809	Chromatin interaction
ENSG00000268863	Chromatin interaction
ENSG00000178226	Chromatin interaction
ENSG00000167394	Chromatin interaction
ENSG00000167395	Chromatin interaction
ENSG00000099377	Chromatin interaction
ENSG00000089280	Chromatin interaction
ENSG00000103507	Chromatin interaction

Extended variants
information (count: 17 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs17878544	1.00[EUR][1000 genomes]
rs2077633	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59078000	0.86[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62057089	0.82[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 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	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
4	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
5	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
6	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
7	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
8	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	114 gene(s)	inside rSNPs	diseases
10	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
11	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
12	nsv905742	chr16:31102321-31247924	Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	188 gene(s)	inside rSNPs	diseases
13	nsv542900	chr16:31137352-31197027	Enhancers Genic enhancers Active TSS Flanking Active TSS Strong transcription Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	165 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:109 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31130400-31153000	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
2	chr16:31135800-31153000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr16:31139400-31153200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
4	chr16:31140400-31152800	Weak transcription	GM12878-XiMat	blood
5	chr16:31141400-31149600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
6	chr16:31141400-31149800	Weak transcription	HSMMtube	muscle
7	chr16:31141800-31149800	Weak transcription	HSMM	muscle
8	chr16:31142200-31153200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr16:31142800-31150200	Weak transcription	Psoas Muscle	Psoas
10	chr16:31143000-31153200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
11	chr16:31143400-31150200	Weak transcription	Aorta	Aorta
12	chr16:31143600-31150000	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
13	chr16:31143600-31153200	Weak transcription	Primary T cells from cord blood	blood
14	chr16:31143800-31149800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr16:31143800-31153000	Weak transcription	Primary T cells fromperipheralblood	blood
16	chr16:31143800-31153400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
17	chr16:31144000-31152800	Weak transcription	Ovary	ovary
18	chr16:31144000-31153200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr16:31144200-31152400	Weak transcription	Dnd41	blood
20	chr16:31144200-31153000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr16:31144400-31146800	Transcr. at gene 5' and 3'	Fetal Intestine Small	intestine
22	chr16:31144400-31153000	Weak transcription	Primary B cells from peripheral blood	blood
23	chr16:31144400-31153000	Weak transcription	Primary T helper cells PMA-I stimulated	--
24	chr16:31144600-31152400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:31144600-31152600	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
26	chr16:31144800-31147000	Enhancers	Monocytes-CD14+_RO01746	blood
27	chr16:31144800-31152800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
28	chr16:31144800-31152800	Weak transcription	Thymus	Thymus
29	chr16:31144800-31153200	Weak transcription	Primary T helper cells fromperipheralblood	blood
30	chr16:31144800-31153600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
31	chr16:31145000-31146800	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr16:31145000-31147200	Enhancers	Primary monocytes fromperipheralblood	blood
33	chr16:31145000-31147200	Active TSS	Pancreatic Islets	Pancreatic Islet
34	chr16:31145000-31147400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:31145000-31147400	Enhancers	Fetal Heart	heart
36	chr16:31145000-31147400	Active TSS	Rectal Smooth Muscle	rectum
37	chr16:31145200-31146800	Bivalent Enhancer	Skeletal Muscle Male	skeletal muscle
38	chr16:31145200-31147200	Active TSS	ES-I3 Cell Line	embryonic stem cell
39	chr16:31145200-31147400	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
40	chr16:31145200-31147400	Active TSS	Fetal Thymus	thymus
41	chr16:31145200-31147600	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr16:31145200-31152800	Weak transcription	Brain Inferior Temporal Lobe	brain
43	chr16:31145400-31146800	Enhancers	Primary B cells from cord blood	blood
44	chr16:31145400-31146800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
45	chr16:31145400-31147000	Active TSS	Sigmoid Colon	Sigmoid Colon
46	chr16:31145400-31147200	Active TSS	Duodenum Mucosa	Duodenum
47	chr16:31145400-31147200	Active TSS	Rectal Mucosa Donor 29	rectum
48	chr16:31145600-31147000	Active TSS	ES-WA7 Cell Line	embryonic stem cell
49	chr16:31145600-31147000	Active TSS	Small Intestine	intestine
50	chr16:31145600-31147200	Active TSS	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived

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