Variant report

Variant	rs12610238
Chromosome Location	chr19:39677078-39677079
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39614775..39617261-chr19:39676809..39678412,2	MCF-7	breast:
2	chr19:39676778..39680967-chr19:39681960..39686095,4	K562	blood:
3	chr19:39676146..39678266-chr19:39679108..39681372,3	MCF-7	breast:
4	chr19:39657621..39660070-chr19:39676796..39679772,2	MCF-7	breast:
5	chr19:39662169..39664494-chr19:39676603..39678181,2	K562	blood:
6	chr19:39671387..39675690-chr19:39676720..39678693,3	K562	blood:
7	chr19:39656551..39660143-chr19:39675246..39681058,6	MCF-7	breast:

Variant related genes	Relation type
ENSG00000130669	Chromatin interaction

Extended variants
information (count: 10 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:8)

rs_ID	r²[population]
rs11668093	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs12608805	0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12985441	0.94[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35126134	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs4802021	0.80[EUR][1000 genomes]
rs9676479	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9676661	0.85[AMR][1000 genomes];0.93[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9676717	0.85[AMR][1000 genomes];0.92[EUR][1000 genomes];0.98[ASN][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	nsv833829	chr19:39569681-39730777	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
2	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:38 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39657800-39687600	Weak transcription	Right Atrium	heart
2	chr19:39661400-39684600	Weak transcription	HSMM	muscle
3	chr19:39662600-39681800	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
4	chr19:39663200-39681400	Weak transcription	Fetal Kidney	kidney
5	chr19:39667400-39679600	Weak transcription	HSMMtube	muscle
6	chr19:39669200-39685800	Weak transcription	NHEK	skin
7	chr19:39669400-39678200	Weak transcription	Primary T helper cells PMA-I stimulated	--
8	chr19:39669600-39677800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr19:39669600-39678200	Weak transcription	H1 Cell Line	embryonic stem cell
10	chr19:39669800-39678200	Weak transcription	Right Ventricle	heart
11	chr19:39670600-39678400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
12	chr19:39670800-39678200	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
13	chr19:39671000-39678200	Weak transcription	Esophagus	oesophagus
14	chr19:39671000-39678400	Weak transcription	HUES6 Cell Line	embryonic stem cell
15	chr19:39671000-39678400	Weak transcription	Spleen	Spleen
16	chr19:39672000-39677800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
17	chr19:39672000-39677800	Weak transcription	Duodenum Mucosa	Duodenum
18	chr19:39672000-39683600	Weak transcription	Pancreas	Pancrea
19	chr19:39672400-39677800	Weak transcription	Fetal Intestine Large	intestine
20	chr19:39672400-39678200	Weak transcription	Lung	lung
21	chr19:39672600-39677200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
22	chr19:39672600-39678200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
23	chr19:39672600-39678200	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
24	chr19:39672800-39677800	Weak transcription	Placenta	Placenta
25	chr19:39672800-39678200	Weak transcription	Placenta Amnion	Placenta Amnion
26	chr19:39672800-39683600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
27	chr19:39673000-39678000	Weak transcription	Fetal Brain Female	brain
28	chr19:39673000-39678200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:39673000-39678200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
30	chr19:39673000-39681400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr19:39673000-39684200	Weak transcription	Gastric	stomach
32	chr19:39673200-39677800	Weak transcription	HepG2	liver
33	chr19:39673200-39681400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
34	chr19:39673400-39678200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
35	chr19:39674400-39678200	Weak transcription	A549	lung
36	chr19:39674600-39677800	Weak transcription	Fetal Intestine Small	intestine
37	chr19:39675400-39681800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
38	chr19:39676200-39677800	Weak transcription	Fetal Stomach	stomach

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