Variant report

Variant	rs7246146
Chromosome Location	chr19:22018721-22018722
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:21948377..21950622-chr19:22016631..22019164,2	MCF-7	breast:
2	chr19:21948493..21950510-chr19:22018479..22020127,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000197020	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:4)

rs_ID	r²[population]
rs59872753	1.00[AMR][1000 genomes]
rs61417014	1.00[AMR][1000 genomes]
rs7260253	0.93[AFR][1000 genomes]
rs8108849	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3441368	chr19:21781459-22182822	Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
2	esv3339694	chr19:21781479-22182792	Enhancers Active TSS ZNF genes & repeats Weak transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	diseases
3	nsv1063115	chr19:21782104-22528039	Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	38 gene(s)	inside rSNPs	diseases
4	nsv458525	chr19:21796943-22019697	Weak transcription ZNF genes & repeats Active TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv578969	chr19:21796943-22019697	ZNF genes & repeats Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
6	nsv911424	chr19:21798441-22471156	Strong transcription Enhancers Active TSS ZNF genes & repeats Weak transcription Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	36 gene(s)	inside rSNPs	diseases
7	nsv911425	chr19:21841379-22338142	Enhancers ZNF genes & repeats Flanking Active TSS Strong transcription Genic enhancers Weak transcription Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	23 gene(s)	inside rSNPs	diseases
8	nsv833784	chr19:21902647-22037153	ZNF genes & repeats Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
9	nsv1059079	chr19:21940891-22083420	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
10	esv3395280	chr19:21968753-22202288	Active TSS Weak transcription Strong transcription ZNF genes & repeats Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
11	nsv911428	chr19:21986292-22106951	Strong transcription ZNF genes & repeats Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
12	nsv911429	chr19:21986292-22110219	Active TSS ZNF genes & repeats Strong transcription Weak transcription Flanking Active TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
13	nsv961194	chr19:21998424-22019912	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	3 gene(s)	inside rSNPs	n/a
14	nsv911430	chr19:22008229-22106951	ZNF genes & repeats Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
15	nsv1062497	chr19:22013911-22102714	Genic enhancers Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases
16	nsv543949	chr19:22013911-22102714	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	4 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:22017400-22019200	Active TSS	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
2	chr19:22017600-22019200	Active TSS	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
3	chr19:22017600-22019200	Active TSS	Primary hematopoietic stem cells short term culture	blood
4	chr19:22017800-22019000	Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
5	chr19:22017800-22019200	Active TSS	H9 Cell Line	embryonic stem cell
6	chr19:22017800-22019200	Active TSS	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr19:22017800-22019200	Active TSS	HUES48 Cell Line	embryonic stem cell
8	chr19:22017800-22019200	Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:22017800-22019200	Active TSS	Duodenum Mucosa	Duodenum
10	chr19:22017800-22019200	Active TSS	Fetal Kidney	kidney
11	chr19:22017800-22019200	Active TSS	Rectal Smooth Muscle	rectum
12	chr19:22017800-22019400	Active TSS	H1 Cell Line	embryonic stem cell
13	chr19:22017800-22019600	Active TSS	HUES64 Cell Line	embryonic stem cell
14	chr19:22017800-22019600	Active TSS	iPS-18 Cell Line	embryonic stem cell
15	chr19:22017800-22019600	Active TSS	iPS-20b Cell Line	embryonic stem cell
16	chr19:22018000-22018800	Flanking Active TSS	Primary T regulatory cells fromperipheralblood	blood
17	chr19:22018000-22019000	Active TSS	ES-UCSF4 Cell Line	embryonic stem cell
18	chr19:22018000-22019000	Active TSS	Fetal Adrenal Gland	Adrenal Gland
19	chr19:22018000-22019000	Active TSS	Fetal Muscle Leg	muscle
20	chr19:22018000-22019000	Active TSS	Placenta Amnion	Placenta Amnion
21	chr19:22018000-22019000	Active TSS	Osteobl	bone
22	chr19:22018000-22019200	Active TSS	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
23	chr19:22018000-22019200	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
24	chr19:22018000-22019200	Active TSS	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr19:22018000-22019200	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
26	chr19:22018000-22019200	Flanking Active TSS	Primary B cells from cord blood	blood
27	chr19:22018000-22019200	Active TSS	Primary T cells from cord blood	blood
28	chr19:22018000-22019200	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
29	chr19:22018000-22019200	Active TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr19:22018000-22019200	Active TSS	Muscle Satellite Cultured Cells	--
31	chr19:22018000-22019200	Active TSS	Foreskin Fibroblast Primary Cells skin01	Skin
32	chr19:22018000-22019200	Active TSS	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr19:22018000-22019200	Active TSS	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr19:22018000-22019200	Active TSS	Colonic Mucosa	Colon
35	chr19:22018000-22019200	Active TSS	Fetal Intestine Large	intestine
36	chr19:22018000-22019200	Active TSS	Fetal Intestine Small	intestine
37	chr19:22018000-22019200	Active TSS	Fetal Thymus	thymus
38	chr19:22018000-22019200	Active TSS	Rectal Mucosa Donor 31	rectum
39	chr19:22018000-22019200	Active TSS	Skeletal Muscle Female	skeletal muscle
40	chr19:22018000-22019200	Active TSS	Stomach Smooth Muscle	stomach
41	chr19:22018000-22019200	Active TSS	Thymus	Thymus
42	chr19:22018000-22019200	Active TSS	NHLF	lung
43	chr19:22018000-22019400	Active TSS	HUES6 Cell Line	embryonic stem cell
44	chr19:22018000-22019400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
45	chr19:22018000-22019400	Active TSS	Foreskin Fibroblast Primary Cells skin02	Skin
46	chr19:22018000-22019400	Active TSS	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr19:22018000-22019400	Active TSS	Brain Anterior Caudate	brain
48	chr19:22018000-22019400	Active TSS	Brain Germinal Matrix	brain
49	chr19:22018000-22019400	Active TSS	Fetal Lung	lung
50	chr19:22018000-22019400	Flanking Active TSS	Fetal Muscle Trunk	muscle

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