Variant report

Variant	rs558667723
Chromosome Location	chr19:18979065-18979066
allele	A/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:0)
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	chr19:18976801..18979191-chr19:18979322..18983754,5	MCF-7	breast:
2	chr19:18963646..18965570-chr19:18977086..18979214,2	K562	blood:
3	chr19:18941414..18944401-chr19:18975795..18980469,5	MCF-7	breast:
4	chr19:18977955..18980267-chr19:18984796..18987025,2	MCF-7	breast:
5	chr19:18976765..18981353-chr19:18988726..18992565,5	K562	blood:
6	chr19:18960784..18962475-chr19:18978438..18980131,2	K562	blood:
7	chr19:18959200..18960777-chr19:18978860..18981735,2	K562	blood:
8	chr19:18978885..18981974-chr19:19006275..19008984,3	MCF-7	breast:
9	chr19:18977453..18979163-chr19:18981290..18984197,2	K562	blood:
10	chr19:18977344..18982900-chr19:19025214..19031477,5	MCF-7	breast:
11	chr19:18977856..18980338-chr19:18985315..18988284,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000130283	Chromatin interaction
ENSG00000223802	Chromatin interaction
ENSG00000269694	Chromatin interaction
ENSG00000005007	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000105671	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

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	nsv911293	chr19:18872917-19050957	Flanking Active TSS Genic enhancers Strong transcription Active TSS Weak transcription Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	40 gene(s)	inside rSNPs	diseases
2	nsv911294	chr19:18872917-19093619	Active TSS Weak transcription Strong transcription Bivalent Enhancer Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	43 gene(s)	inside rSNPs	diseases
3	nsv833777	chr19:18875936-19031076	Weak transcription ZNF genes & repeats Genic enhancers Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	38 gene(s)	inside rSNPs	diseases
4	nsv911297	chr19:18928480-19077385	Enhancers Strong transcription Flanking Bivalent TSS/Enh Weak transcription Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Genic enhancers Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
5	nsv911298	chr19:18928480-19093619	Weak transcription Transcr. at gene 5' and 3' Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	39 gene(s)	inside rSNPs	diseases
6	nsv911299	chr19:18939954-18984843	Active TSS Genic enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	16 gene(s)	inside rSNPs	diseases
7	nsv911300	chr19:18944025-19093619	Genic enhancers Weak transcription Flanking Bivalent TSS/Enh Strong transcription Enhancers Bivalent Enhancer Active TSS Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
8	nsv470132	chr19:18964442-19054720	Active TSS Weak transcription Strong transcription Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	34 gene(s)	inside rSNPs	diseases
9	nsv828473	chr19:18975130-18994875	Enhancers Strong transcription Genic enhancers Bivalent Enhancer Weak transcription ZNF genes & repeats Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases
10	esv3338528	chr19:18977552-18981950	Genic enhancers Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Active TSS	Chromatin interactive region lncRNA	8 gene(s)	inside rSNPs	diseases
11	esv3391313	chr19:18978452-18981150	Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Strong transcription ZNF genes & repeats Flanking Active TSS Bivalent/Poised TSS Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
12	esv3422646	chr19:18978577-18981125	Genic enhancers Bivalent Enhancer Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
13	esv3389936	chr19:18978902-18981000	Strong transcription Weak transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Active TSS Genic enhancers Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:119 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18954800-18979800	Strong transcription	Dnd41	blood
2	chr19:18958400-18979200	Strong transcription	iPS-18 Cell Line	embryonic stem cell
3	chr19:18958400-18979400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
4	chr19:18958400-18979400	Strong transcription	Primary T cells from cord blood	blood
5	chr19:18958400-18979400	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
6	chr19:18958400-18980200	Strong transcription	Sigmoid Colon	Sigmoid Colon
7	chr19:18958600-18979200	Strong transcription	HUES48 Cell Line	embryonic stem cell
8	chr19:18958600-18979400	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:18958600-18979600	Strong transcription	Cortex derived primary cultured neurospheres	brain
10	chr19:18958800-18979200	Strong transcription	H1 Cell Line	embryonic stem cell
11	chr19:18958800-18979200	Strong transcription	Brain Germinal Matrix	brain
12	chr19:18959200-18979200	Strong transcription	Primary T helper cells PMA-I stimulated	--
13	chr19:18960000-18979400	Strong transcription	Placenta Amnion	Placenta Amnion
14	chr19:18960400-18979200	Strong transcription	Fetal Intestine Small	intestine
15	chr19:18960600-18979200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
16	chr19:18960600-18979400	Strong transcription	Primary T helper cells fromperipheralblood	blood
17	chr19:18960600-18979600	Strong transcription	Primary hematopoietic stem cells short term culture	blood
18	chr19:18960600-18982600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
19	chr19:18960800-18979200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
20	chr19:18960800-18979400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
21	chr19:18960800-18979400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
22	chr19:18961000-18979200	Strong transcription	Osteobl	bone
23	chr19:18961000-18979400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
24	chr19:18961000-18979600	Strong transcription	Muscle Satellite Cultured Cells	--
25	chr19:18961000-18979600	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
26	chr19:18961200-18979400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
27	chr19:18961200-18979400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
28	chr19:18961400-18979600	Strong transcription	Aorta	Aorta
29	chr19:18961600-18979400	Strong transcription	Rectal Mucosa Donor 31	rectum
30	chr19:18961600-18979800	Strong transcription	Primary neutrophils fromperipheralblood	blood
31	chr19:18961600-18979800	Strong transcription	NHLF	lung
32	chr19:18961600-18980800	Strong transcription	Pancreas	Pancrea
33	chr19:18961800-18979400	Strong transcription	NHDF-Ad	bronchial
34	chr19:18962200-18979600	Weak transcription	Right Atrium	heart
35	chr19:18962200-18979800	Strong transcription	Colonic Mucosa	Colon
36	chr19:18962600-18979200	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr19:18963000-18980000	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
38	chr19:18963800-18979200	Strong transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr19:18967400-18979400	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
40	chr19:18967400-18987600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
41	chr19:18971000-18979200	Strong transcription	Brain Angular Gyrus	brain
42	chr19:18971200-18979200	Strong transcription	Right Ventricle	heart
43	chr19:18971200-18979600	Strong transcription	Brain Anterior Caudate	brain
44	chr19:18971600-18979400	Strong transcription	Brain Substantia Nigra	brain
45	chr19:18971800-18979400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
46	chr19:18971800-18979400	Strong transcription	Lung	lung
47	chr19:18972000-18979200	Strong transcription	Brain Cingulate Gyrus	brain
48	chr19:18972000-18979200	Strong transcription	Skeletal Muscle Female	skeletal muscle
49	chr19:18972600-18979400	Strong transcription	Duodenum Mucosa	Duodenum
50	chr19:18972800-18979400	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood

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