Variant report

Variant	rs7250312
Chromosome Location	chr19:19473805-19473806
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19472366..19475200-chr19:19483991..19486189,2	K562	blood:
2	chr19:19469138..19472356-chr19:19472972..19475692,3	K562	blood:

Extended variants
information (count: 12 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs2074297	0.89[AMR][1000 genomes]
rs2074305	0.83[AMR][1000 genomes]
rs2074307	0.89[AMR][1000 genomes]
rs2106864	0.83[AMR][1000 genomes]
rs36045507	0.89[AMR][1000 genomes]
rs57653580	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57915152	1.00[AFR][1000 genomes]
rs61186263	1.00[AFR][1000 genomes];0.89[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8102280	1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv911303	chr19:19256870-19505087	Flanking Active TSS Weak transcription Strong transcription Enhancers Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
2	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
3	nsv1056419	chr19:19421218-19510611	Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Weak transcription Genic enhancers Strong transcription Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:118 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19435600-19477600	Weak transcription	Fetal Heart	heart
2	chr19:19440400-19475400	Weak transcription	Right Atrium	heart
3	chr19:19454400-19475600	Weak transcription	Fetal Kidney	kidney
4	chr19:19459200-19475400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
5	chr19:19460800-19475600	Weak transcription	Psoas Muscle	Psoas
6	chr19:19465200-19483600	Weak transcription	NH-A	brain
7	chr19:19466600-19475600	Weak transcription	NHDF-Ad	bronchial
8	chr19:19466800-19475600	Weak transcription	HMEC	breast
9	chr19:19467200-19475400	Weak transcription	Small Intestine	intestine
10	chr19:19467200-19475600	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr19:19467200-19477600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr19:19467400-19475400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
13	chr19:19467400-19475600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
14	chr19:19467400-19475600	Weak transcription	iPS-18 Cell Line	embryonic stem cell
15	chr19:19467400-19475600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
16	chr19:19467600-19475600	Weak transcription	HUES48 Cell Line	embryonic stem cell
17	chr19:19467600-19475600	Weak transcription	HSMM	muscle
18	chr19:19468000-19475400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
19	chr19:19468000-19475600	Weak transcription	HUES64 Cell Line	embryonic stem cell
20	chr19:19468200-19475400	Weak transcription	NHEK	skin
21	chr19:19468200-19477600	Weak transcription	Brain Substantia Nigra	brain
22	chr19:19468400-19475400	Weak transcription	H1 Cell Line	embryonic stem cell
23	chr19:19468400-19475400	Weak transcription	H9 Cell Line	embryonic stem cell
24	chr19:19468400-19475400	Weak transcription	Rectal Smooth Muscle	rectum
25	chr19:19468400-19476000	Weak transcription	Left Ventricle	heart
26	chr19:19468400-19477600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
27	chr19:19468400-19478000	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr19:19468600-19477600	Weak transcription	Fetal Lung	lung
29	chr19:19468800-19475600	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
30	chr19:19468800-19475600	Weak transcription	Placenta Amnion	Placenta Amnion
31	chr19:19469200-19475200	Weak transcription	Primary hematopoietic stem cells	blood
32	chr19:19469200-19475200	Weak transcription	Pancreas	Pancrea
33	chr19:19469200-19475600	Weak transcription	HSMMtube	muscle
34	chr19:19469200-19477600	Weak transcription	Brain Angular Gyrus	brain
35	chr19:19469400-19475400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
36	chr19:19469400-19475400	Weak transcription	Duodenum Smooth Muscle	Duodenum
37	chr19:19469400-19475800	Weak transcription	Sigmoid Colon	Sigmoid Colon
38	chr19:19469400-19482000	Weak transcription	Esophagus	oesophagus
39	chr19:19469600-19475400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
40	chr19:19469800-19475200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
41	chr19:19469800-19475400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr19:19469800-19475400	Weak transcription	Aorta	Aorta
43	chr19:19469800-19475400	Weak transcription	Brain Inferior Temporal Lobe	brain
44	chr19:19469800-19475400	Weak transcription	Colonic Mucosa	Colon
45	chr19:19469800-19475400	Weak transcription	Fetal Intestine Large	intestine
46	chr19:19469800-19475400	Weak transcription	Rectal Mucosa Donor 31	rectum
47	chr19:19469800-19475600	Weak transcription	HUES6 Cell Line	embryonic stem cell
48	chr19:19469800-19476000	Weak transcription	Brain Anterior Caudate	brain
49	chr19:19469800-19477400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
50	chr19:19469800-19477400	Weak transcription	Cortex derived primary cultured neurospheres	brain

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