Variant report

Variant	rs16982288
Chromosome Location	chr19:18383293-18383294
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	chr19:18263040..18264766-chr19:18382992..18384710,2	MCF-7	breast:
2	chr19:18382564..18395263-chr19:18409643..18446343,165	MCF-7	breast:

Variant related genes	Relation type
ENSG00000105647	Chromatin interaction
ENSG00000239821	Chromatin interaction
ENSG00000130520	Chromatin interaction
ENSG00000268173	Chromatin interaction

Extended variants
information (count: 26 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs10419232	0.84[CHB][hapmap]
rs16982291	0.89[ASN][1000 genomes]
rs41374444	0.84[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs41401751	0.89[ASN][1000 genomes]
rs56069717	0.83[EUR][1000 genomes]
rs6512255	0.84[CHB][hapmap];1.00[JPT][hapmap];0.81[ASN][1000 genomes]
rs7254275	0.84[CHB][hapmap];1.00[JPT][hapmap];0.89[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532614	chr19:18033043-18573963	Flanking Active TSS Enhancers Active TSS Genic enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	204 gene(s)	inside rSNPs	diseases
2	esv1837595	chr19:18085428-18393682	Weak transcription Enhancers Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	147 gene(s)	inside rSNPs	diseases
3	nsv833775	chr19:18213761-18390074	Active TSS Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
4	nsv911251	chr19:18224729-18422364	Enhancers Flanking Active TSS Active TSS Weak transcription Bivalent Enhancer Genic enhancers Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
5	nsv911253	chr19:18240127-18418044	Strong transcription Enhancers Weak transcription Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	136 gene(s)	inside rSNPs	diseases
6	nsv916325	chr19:18244780-18534927	Flanking Active TSS Bivalent Enhancer Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	167 gene(s)	inside rSNPs	diseases
7	nsv911260	chr19:18288069-18386798	Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
8	nsv470131	chr19:18326222-18389135	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
9	esv3323899	chr19:18343484-18620429	Enhancers Weak transcription Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	162 gene(s)	inside rSNPs	diseases
10	nsv911267	chr19:18351674-18386798	Enhancers Weak transcription Bivalent/Poised TSS Strong transcription Flanking Active TSS Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	21 gene(s)	inside rSNPs	diseases
11	nsv911268	chr19:18351674-18395537	Flanking Active TSS Active TSS Strong transcription Weak transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	103 gene(s)	inside rSNPs	diseases
12	nsv911269	chr19:18351674-18418044	Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Enhancers Strong transcription Weak transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
13	nsv911270	chr19:18351674-18422364	Weak transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	120 gene(s)	inside rSNPs	diseases
14	nsv911271	chr19:18362940-18453124	Active TSS Enhancers Weak transcription Flanking Active TSS Strong transcription Genic enhancers Bivalent Enhancer 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	135 gene(s)	inside rSNPs	diseases
15	nsv828472	chr19:18377725-18404131	Flanking Active TSS Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA	117 gene(s)	inside rSNPs	diseases
16	esv1833305	chr19:18378219-18408222	Active TSS Genic enhancers Weak transcription 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 miRNA	117 gene(s)	inside rSNPs	diseases
17	nsv911272	chr19:18378219-18439383	Flanking Active TSS Genic enhancers Weak transcription Enhancers Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	135 gene(s)	inside rSNPs	diseases
18	nsv578744	chr19:18380072-18392873	Weak transcription Strong transcription Flanking Active TSS Active TSS Genic enhancers Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	100 gene(s)	inside rSNPs	diseases
19	esv1793726	chr19:18381600-18400786	Weak transcription Active TSS Enhancers Transcr. at gene 5' and 3' Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Bivalent/Poised TSS Strong transcription Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	104 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18348600-18385200	Weak transcription	Right Atrium	heart
2	chr19:18366400-18389400	Weak transcription	Fetal Brain Male	brain
3	chr19:18366600-18385400	Weak transcription	Primary B cells from cord blood	blood
4	chr19:18366600-18385800	Weak transcription	HUES6 Cell Line	embryonic stem cell
5	chr19:18366600-18390000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
6	chr19:18371000-18385400	Weak transcription	HSMMtube	muscle
7	chr19:18374600-18383600	Weak transcription	A549	lung
8	chr19:18374600-18388400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
9	chr19:18374800-18385200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr19:18375000-18388200	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr19:18375600-18386000	Weak transcription	Fetal Kidney	kidney
12	chr19:18376200-18386400	Weak transcription	Pancreatic Islets	Pancreatic Islet
13	chr19:18376400-18384600	Weak transcription	Small Intestine	intestine
14	chr19:18376400-18384800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
15	chr19:18377200-18388800	Weak transcription	Dnd41	blood
16	chr19:18377600-18384400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
17	chr19:18377800-18388800	Weak transcription	Primary hematopoietic stem cells	blood
18	chr19:18378000-18384400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
19	chr19:18378200-18384400	Weak transcription	Duodenum Mucosa	Duodenum
20	chr19:18378200-18384800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
21	chr19:18378200-18385200	Weak transcription	Muscle Satellite Cultured Cells	--
22	chr19:18378200-18385200	Weak transcription	Rectal Smooth Muscle	rectum
23	chr19:18378200-18388800	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr19:18378200-18389000	Weak transcription	HUES64 Cell Line	embryonic stem cell
25	chr19:18378400-18385000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
26	chr19:18378400-18385200	Weak transcription	Colonic Mucosa	Colon
27	chr19:18378600-18383600	Weak transcription	Stomach Mucosa	stomach
28	chr19:18378600-18384400	Weak transcription	Skeletal Muscle Male	skeletal muscle
29	chr19:18378600-18384600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:18378600-18384600	Weak transcription	Right Ventricle	heart
31	chr19:18378600-18384600	Weak transcription	Skeletal Muscle Female	skeletal muscle
32	chr19:18378600-18385200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:18378600-18385200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
34	chr19:18378600-18385200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr19:18378600-18385200	Weak transcription	Colon Smooth Muscle	Colon
36	chr19:18378600-18385200	Weak transcription	K562	blood
37	chr19:18378600-18385400	Weak transcription	Brain Germinal Matrix	brain
38	chr19:18378600-18385400	Weak transcription	Placenta Amnion	Placenta Amnion
39	chr19:18378800-18385000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
40	chr19:18378800-18385200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
41	chr19:18379200-18384400	Weak transcription	Esophagus	oesophagus
42	chr19:18379200-18385000	Weak transcription	NHLF	lung
43	chr19:18379200-18385200	Weak transcription	Primary T cells from cord blood	blood
44	chr19:18379200-18385200	Weak transcription	Brain Cingulate Gyrus	brain
45	chr19:18379400-18384400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
46	chr19:18379400-18384400	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr19:18379400-18384400	Weak transcription	Placenta	Placenta
48	chr19:18379400-18384800	Weak transcription	Stomach Smooth Muscle	stomach
49	chr19:18379400-18385200	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
50	chr19:18379400-18385200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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