Variant report

Variant	rs73046624
Chromosome Location	chr19:44191717-44191718
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:44173113..44175808-chr19:44190401..44192454,2	MCF-7	breast:
2	chr19:44183113..44184913-chr19:44191460..44193801,2	K562	blood:
3	chr19:44172814..44174554-chr19:44190309..44192012,2	K562	blood:

Variant related genes	Relation type
ENSG00000011422	Chromatin interaction

Extended variants
information (count: 8 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:6)

rs_ID	r²[population]
rs1468720	0.84[EUR][1000 genomes]
rs1966376	0.82[EUR][1000 genomes]
rs56298463	0.87[EUR][1000 genomes]
rs62114134	0.86[EUR][1000 genomes]
rs740586	0.86[EUR][1000 genomes]
rs8107296	0.88[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer 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	62 gene(s)	inside rSNPs	diseases
2	nsv833839	chr19:44099813-44272299	Weak transcription ZNF genes & repeats Flanking Active TSS Enhancers Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:40 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44180600-44194200	Weak transcription	Spleen	Spleen
2	chr19:44187600-44192000	Weak transcription	Placenta Amnion	Placenta Amnion
3	chr19:44190400-44192400	Enhancers	Foreskin Keratinocyte Primary Cells skin02	Skin
4	chr19:44190400-44192600	Enhancers	Foreskin Keratinocyte Primary Cells skin03	Skin
5	chr19:44190600-44192000	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
6	chr19:44190600-44192200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr19:44190600-44192200	Enhancers	NHEK	skin
8	chr19:44190800-44191800	Enhancers	HUES6 Cell Line	embryonic stem cell
9	chr19:44190800-44192000	Enhancers	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
10	chr19:44190800-44192000	Enhancers	NH-A	brain
11	chr19:44190800-44192200	Enhancers	ES-I3 Cell Line	embryonic stem cell
12	chr19:44190800-44192200	Enhancers	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
13	chr19:44190800-44192200	Enhancers	HMEC	breast
14	chr19:44191000-44191800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
15	chr19:44191000-44192000	Enhancers	H1 Cell Line	embryonic stem cell
16	chr19:44191000-44192000	Enhancers	HUES64 Cell Line	embryonic stem cell
17	chr19:44191000-44192000	Enhancers	Osteobl	bone
18	chr19:44191000-44192200	Enhancers	A549	lung
19	chr19:44191000-44192400	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
20	chr19:44191000-44192400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
21	chr19:44191000-44192400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
22	chr19:44191000-44192400	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
23	chr19:44191000-44192400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr19:44191000-44192400	Enhancers	Brain Cingulate Gyrus	brain
25	chr19:44191000-44192400	Enhancers	Brain Hippocampus Middle	brain
26	chr19:44191000-44192600	Enhancers	Stomach Mucosa	stomach
27	chr19:44191000-44193000	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
28	chr19:44191200-44191800	Enhancers	iPS-15b Cell Line	embryonic stem cell
29	chr19:44191200-44192000	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr19:44191200-44192200	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
31	chr19:44191200-44192400	Enhancers	Cortex derived primary cultured neurospheres	brain
32	chr19:44191200-44192400	Enhancers	Brain Substantia Nigra	brain
33	chr19:44191200-44192600	Enhancers	Brain Anterior Caudate	brain
34	chr19:44191200-44194000	Enhancers	Primary monocytes fromperipheralblood	blood
35	chr19:44191400-44191800	Enhancers	Hela-S3	cervix
36	chr19:44191400-44192600	Enhancers	Brain Inferior Temporal Lobe	brain
37	chr19:44191400-44203600	Weak transcription	H9 Cell Line	embryonic stem cell
38	chr19:44191600-44192600	Enhancers	Brain Angular Gyrus	brain
39	chr19:44191600-44195600	Enhancers	Monocytes-CD14+_RO01746	blood
40	chr19:44191600-44196600	Enhancers	Primary neutrophils fromperipheralblood	blood

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