Variant report

Variant	rs571387097
Chromosome Location	chr19:18980054-18980055
allele	-/GCC
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:13)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:13 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:18941414..18944401-chr19:18975795..18980469,5	MCF-7	breast:
2	chr19:18977955..18980267-chr19:18984796..18987025,2	MCF-7	breast:
3	chr19:18974657..18976730-chr19:18979703..18982678,3	MCF-7	breast:
4	chr19:18976801..18979191-chr19:18979322..18983754,5	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	chr19:18979325..18981152-chr19:19008928..19011883,2	K562	blood:
9	chr19:18977329..18979019-chr19:18979080..18981644,2	MCF-7	breast:
10	chr19:18978885..18981974-chr19:19006275..19008984,3	MCF-7	breast:
11	chr19:18979537..18984476-chr19:19027015..19031327,4	K562	blood:
12	chr19:18977344..18982900-chr19:19025214..19031477,5	MCF-7	breast:
13	chr19:18977856..18980338-chr19:18985315..18988284,3	K562	blood:

No data

Variant related genes	Relation type
ENSG00000105671	Chromatin interaction
ENSG00000130283	Chromatin interaction
ENSG00000223802	Chromatin interaction
ENSG00000105669	Chromatin interaction
ENSG00000269694	Chromatin interaction
ENSG00000005007	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:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:18958400-18980200	Strong transcription	Sigmoid Colon	Sigmoid Colon
2	chr19:18960600-18982600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
3	chr19:18961600-18980800	Strong transcription	Pancreas	Pancrea
4	chr19:18967400-18987600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr19:18973400-18986400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
6	chr19:18973800-18980600	Weak transcription	Fetal Kidney	kidney
7	chr19:18974600-18987600	Weak transcription	Pancreatic Islets	Pancreatic Islet
8	chr19:18975200-18980200	Weak transcription	Primary B cells from cord blood	blood
9	chr19:18975600-18986400	Weak transcription	HSMMtube	muscle
10	chr19:18976000-18980800	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr19:18977200-18980200	Genic enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
12	chr19:18977200-18980800	Weak transcription	Ovary	ovary
13	chr19:18977200-18981600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
14	chr19:18977200-18984800	Weak transcription	HSMM	muscle
15	chr19:18978000-18982600	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:18978000-18987200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr19:18978800-18980200	Weak transcription	Stomach Mucosa	stomach
18	chr19:18978800-18981000	Bivalent Enhancer	Foreskin Keratinocyte Primary Cells skin02	Skin
19	chr19:18978800-18981400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr19:18978800-18981800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
21	chr19:18979000-18980200	Weak transcription	Colon Smooth Muscle	Colon
22	chr19:18979000-18980200	Weak transcription	Duodenum Smooth Muscle	Duodenum
23	chr19:18979000-18980200	Genic enhancers	Gastric	stomach
24	chr19:18979000-18980200	Weak transcription	Rectal Smooth Muscle	rectum
25	chr19:18979000-18980200	Weak transcription	Small Intestine	intestine
26	chr19:18979000-18980800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
27	chr19:18979000-18980800	Enhancers	Fetal Brain Male	brain
28	chr19:18979000-18980800	Weak transcription	NH-A	brain
29	chr19:18979000-18981000	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr19:18979000-18981000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr19:18979000-18981600	Weak transcription	K562	blood
32	chr19:18979000-18987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
33	chr19:18979000-18987800	Weak transcription	A549	lung
34	chr19:18979200-18980200	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr19:18979200-18980200	Active TSS	Fetal Brain Female	brain
36	chr19:18979200-18980600	Weak transcription	H1 Cell Line	embryonic stem cell
37	chr19:18979200-18980800	Weak transcription	GM12878-XiMat	blood
38	chr19:18979200-18981000	Enhancers	Liver	Liver
39	chr19:18979200-18981000	Weak transcription	Osteobl	bone
40	chr19:18979200-18981200	Enhancers	Primary hematopoietic stem cells	blood
41	chr19:18979200-18981400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
42	chr19:18979200-18981400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
43	chr19:18979200-18981800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr19:18979200-18982200	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr19:18979200-18982400	Weak transcription	Brain Hippocampus Middle	brain
46	chr19:18979200-18984600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
47	chr19:18979200-18984800	Weak transcription	Brain Angular Gyrus	brain
48	chr19:18979200-18985400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
49	chr19:18979200-18986600	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr19:18979200-18987400	Weak transcription	HUES48 Cell Line	embryonic stem cell

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