Variant report

Variant	rs10451485
Chromosome Location	chr19:18368329-18368330
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr19:18368321-18368331	MCF-7	breast:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr19:18366386..18369590-chr19:18499675..18502630,3	K562	blood:
2	chr19:18367098..18369243-chr19:18385751..18387528,2	MCF-7	breast:
3	chr19:18219225..18221141-chr19:18367564..18369612,2	K562	blood:
4	chr19:18367818..18369812-chr19:18780764..18782671,2	K562	blood:

Variant related genes	Relation type
PDE4C	TF binding region
ENSG00000099308	Chromatin interaction

Extended variants
information (count: 54 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:33)

rs_ID	r²[population]
rs10409185	1.00[EUR][1000 genomes]
rs10410957	1.00[EUR][1000 genomes]
rs10415054	1.00[EUR][1000 genomes]
rs11880673	1.00[EUR][1000 genomes]
rs11881620	1.00[EUR][1000 genomes]
rs17882031	1.00[EUR][1000 genomes]
rs28489988	1.00[EUR][1000 genomes]
rs28537851	1.00[EUR][1000 genomes]
rs28706490	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs28819668	1.00[EUR][1000 genomes]
rs431777	1.00[EUR][1000 genomes]
rs437698	1.00[EUR][1000 genomes]
rs57757608	1.00[EUR][1000 genomes]
rs58749284	1.00[EUR][1000 genomes]
rs6512246	1.00[EUR][1000 genomes]
rs7253479	1.00[EUR][1000 genomes]
rs7256004	1.00[EUR][1000 genomes]
rs73523060	1.00[EUR][1000 genomes]
rs73523064	1.00[EUR][1000 genomes]
rs73523067	1.00[EUR][1000 genomes]
rs73523088	1.00[EUR][1000 genomes]
rs73525104	1.00[EUR][1000 genomes]
rs73525115	1.00[EUR][1000 genomes]
rs73529387	1.00[EUR][1000 genomes]
rs8101797	1.00[EUR][1000 genomes]
rs8102661	1.00[EUR][1000 genomes]
rs8103073	1.00[EUR][1000 genomes]
rs8103429	1.00[EUR][1000 genomes]
rs8105314	1.00[TSI][hapmap];1.00[EUR][1000 genomes]
rs8107049	1.00[EUR][1000 genomes]
rs8107327	1.00[EUR][1000 genomes]
rs845379	1.00[EUR][1000 genomes]
rs9749302	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:21 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1055932	chr19:17923918-18369944	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
2	nsv543923	chr19:17923918-18369944	Strong transcription Weak transcription Genic enhancers Enhancers Active TSS Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	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
4	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
5	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
6	nsv911249	chr19:18224729-18375846	Strong transcription Enhancers Active TSS Flanking Active TSS ZNF genes & repeats Weak transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
7	nsv911250	chr19:18224729-18376522	Strong transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS 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	37 gene(s)	inside rSNPs	diseases
8	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
9	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
10	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
11	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
12	nsv911264	chr19:18309365-18369644	Weak transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	25 gene(s)	inside rSNPs	diseases
13	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
14	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
15	nsv911265	chr19:18351674-18371197	Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS ZNF genes & repeats Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
16	nsv911266	chr19:18351674-18375659	Enhancers Strong transcription Weak transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	10 gene(s)	inside rSNPs	diseases
17	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
18	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
19	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
20	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
21	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

No data

Chromatin state (count:64 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18348600-18385200	Weak transcription	Right Atrium	heart
2	chr19:18361400-18375200	Weak transcription	Pancreatic Islets	Pancreatic Islet
3	chr19:18362800-18375400	Weak transcription	Brain Inferior Temporal Lobe	brain
4	chr19:18363000-18375400	Weak transcription	Brain Angular Gyrus	brain
5	chr19:18365600-18375600	Weak transcription	Brain Substantia Nigra	brain
6	chr19:18366000-18375000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
7	chr19:18366000-18375200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
8	chr19:18366000-18377200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
9	chr19:18366200-18375400	Weak transcription	Liver	Liver
10	chr19:18366400-18369000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:18366400-18373600	Weak transcription	Brain Germinal Matrix	brain
12	chr19:18366400-18375000	Weak transcription	Placenta Amnion	Placenta Amnion
13	chr19:18366400-18375800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
14	chr19:18366400-18376800	Weak transcription	Primary hematopoietic stem cells	blood
15	chr19:18366400-18389400	Weak transcription	Fetal Brain Male	brain
16	chr19:18366600-18373400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
17	chr19:18366600-18373400	Weak transcription	Fetal Brain Female	brain
18	chr19:18366600-18373800	Weak transcription	Primary T cells from cord blood	blood
19	chr19:18366600-18373800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr19:18366600-18374000	Weak transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:18366600-18374400	Weak transcription	Stomach Mucosa	stomach
22	chr19:18366600-18374800	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr19:18366600-18374800	Weak transcription	NHLF	lung
24	chr19:18366600-18375000	Weak transcription	Colonic Mucosa	Colon
25	chr19:18366600-18375000	Weak transcription	Rectal Smooth Muscle	rectum
26	chr19:18366600-18375400	Weak transcription	Duodenum Mucosa	Duodenum
27	chr19:18366600-18375400	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr19:18366600-18377400	Weak transcription	Primary monocytes fromperipheralblood	blood
29	chr19:18366600-18385400	Weak transcription	Primary B cells from cord blood	blood
30	chr19:18366600-18385800	Weak transcription	HUES6 Cell Line	embryonic stem cell
31	chr19:18366600-18390000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
32	chr19:18366800-18375000	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr19:18367000-18373600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:18367200-18374200	Strong transcription	Fetal Stomach	stomach
35	chr19:18367200-18374600	Weak transcription	Brain Hippocampus Middle	brain
36	chr19:18367200-18375800	Weak transcription	Colon Smooth Muscle	Colon
37	chr19:18367400-18374600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:18367600-18368800	Strong transcription	Aorta	Aorta
39	chr19:18367600-18369400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr19:18367600-18369400	Strong transcription	Right Ventricle	heart
41	chr19:18367600-18369400	Strong transcription	Spleen	Spleen
42	chr19:18367600-18369600	Strong transcription	Brain Anterior Caudate	brain
43	chr19:18367600-18371400	Strong transcription	Ovary	ovary
44	chr19:18367600-18380400	Strong transcription	Fetal Muscle Leg	muscle
45	chr19:18367600-18381600	Strong transcription	Fetal Intestine Small	intestine
46	chr19:18367800-18368400	Strong transcription	Adipose Nuclei	Adipose
47	chr19:18367800-18368600	Strong transcription	Fetal Muscle Trunk	muscle
48	chr19:18367800-18369000	ZNF genes & repeats	Foreskin Melanocyte Primary Cells skin01	Skin
49	chr19:18367800-18369800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
50	chr19:18367800-18369800	Strong transcription	Lung	lung

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