Variant report

Variant	rs111974551
Chromosome Location	chr19:45636458-45636459
allele	C/T
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:8)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:8 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:45634549..45636520-chr19:45641430..45643029,2	K562	blood:
2	chr19:45633866..45636672-chr19:45652998..45655854,3	MCF-7	breast:
3	chr19:45626416..45630262-chr19:45631915..45636617,6	MCF-7	breast:
4	chr19:45634602..45637002-chr19:45641982..45644604,3	MCF-7	breast:
5	chr19:45628639..45633572-chr19:45633990..45640719,7	K562	blood:
6	chr19:45635567..45638408-chr19:45650117..45651790,2	K562	blood:
7	chr19:45634766..45636752-chr19:45638919..45640841,2	MCF-7	breast:
8	chr19:45629182..45632237-chr19:45634578..45636911,3	K562	blood:

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

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-NKPD1-1	chr19:45636076-45638227	ENSG00000250044

No data

Variant related genes	Relation type
ENSG00000267346	Chromatin interaction
ENSG00000104866	Chromatin interaction
ENSG00000267037	Chromatin interaction
ENSG00000267044	Chromatin interaction

Extended variants
information (count: 6 )
Associated
traits (count: 0)

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv912142	chr19:45570051-45708758	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv833842	chr19:45593888-45684308	Bivalent Enhancer Weak transcription Genic enhancers Enhancers Flanking Active TSS Strong transcription Active TSS 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 target site	33 gene(s)	inside rSNPs	diseases
3	nsv833843	chr19:45593888-45793682	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv912143	chr19:45624303-45767214	Enhancers Weak transcription Strong transcription Flanking Active TSS Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	30 gene(s)	inside rSNPs	diseases
5	esv3403042	chr19:45626786-45874859	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	44 gene(s)	inside rSNPs	diseases
6	nsv912144	chr19:45636319-45687446	Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:45608000-45639400	Weak transcription	HUES64 Cell Line	embryonic stem cell
2	chr19:45610400-45644400	Weak transcription	Aorta	Aorta
3	chr19:45617000-45651600	Weak transcription	Fetal Kidney	kidney
4	chr19:45617800-45640000	Weak transcription	Fetal Lung	lung
5	chr19:45618800-45639600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
6	chr19:45618800-45639600	Weak transcription	Brain Substantia Nigra	brain
7	chr19:45620800-45643800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
8	chr19:45621200-45639800	Weak transcription	Rectal Smooth Muscle	rectum
9	chr19:45621200-45644000	Weak transcription	Primary monocytes fromperipheralblood	blood
10	chr19:45621600-45643800	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
11	chr19:45621800-45639800	Weak transcription	Colon Smooth Muscle	Colon
12	chr19:45622000-45639200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
13	chr19:45622200-45639600	Weak transcription	Fetal Brain Female	brain
14	chr19:45625000-45654200	Weak transcription	NHDF-Ad	bronchial
15	chr19:45625600-45637000	Weak transcription	Primary B cells from cord blood	blood
16	chr19:45625800-45636800	Weak transcription	Primary T cells from cord blood	blood
17	chr19:45626200-45644400	Weak transcription	Ovary	ovary
18	chr19:45626200-45653400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr19:45627000-45639200	Weak transcription	Brain Germinal Matrix	brain
20	chr19:45627200-45640000	Weak transcription	Adipose Nuclei	Adipose
21	chr19:45627600-45655600	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:45627800-45644000	Weak transcription	Monocytes-CD14+_RO01746	blood
23	chr19:45629400-45639800	Weak transcription	Right Ventricle	heart
24	chr19:45629400-45644000	Weak transcription	Primary T helper cells fromperipheralblood	blood
25	chr19:45629600-45639600	Weak transcription	Duodenum Smooth Muscle	Duodenum
26	chr19:45629600-45640000	Weak transcription	Placenta	Placenta
27	chr19:45629600-45640000	Weak transcription	Rectal Mucosa Donor 29	rectum
28	chr19:45629600-45643800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
29	chr19:45629600-45644600	Weak transcription	Primary T helper cells PMA-I stimulated	--
30	chr19:45629800-45636800	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
31	chr19:45629800-45636800	Weak transcription	Fetal Thymus	thymus
32	chr19:45629800-45638000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
33	chr19:45629800-45638600	Weak transcription	Brain Cingulate Gyrus	brain
34	chr19:45629800-45638800	Weak transcription	Left Ventricle	heart
35	chr19:45629800-45639600	Weak transcription	Brain Hippocampus Middle	brain
36	chr19:45629800-45639600	Weak transcription	Stomach Mucosa	stomach
37	chr19:45629800-45639800	Weak transcription	Rectal Mucosa Donor 31	rectum
38	chr19:45629800-45639800	Weak transcription	Right Atrium	heart
39	chr19:45629800-45643800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
40	chr19:45629800-45643800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
41	chr19:45629800-45644000	Weak transcription	Sigmoid Colon	Sigmoid Colon
42	chr19:45630000-45638600	Weak transcription	Skeletal Muscle Female	skeletal muscle
43	chr19:45630000-45639800	Weak transcription	Skeletal Muscle Male	skeletal muscle
44	chr19:45630000-45641400	Weak transcription	Placenta Amnion	Placenta Amnion
45	chr19:45630200-45636800	Weak transcription	Primary T cells fromperipheralblood	blood
46	chr19:45630800-45639400	Weak transcription	K562	blood
47	chr19:45630800-45653200	Weak transcription	Pancreatic Islets	Pancreatic Islet
48	chr19:45631800-45641400	Strong transcription	Fetal Stomach	stomach
49	chr19:45632400-45639600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr19:45632600-45636600	Weak transcription	Primary B cells from peripheral blood	blood

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