Variant report

Variant	rs2317131
Chromosome Location	chr19:41885151-41885152
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	chr19:41883523..41885589-chr19:41888415..41890497,2	K562	blood:
2	chr19:41882074..41885616-chr19:41888544..41893640,5	K562	blood:

Variant related genes	Relation type
ENSG00000142046	Chromatin interaction

Extended variants
information (count: 99 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:98)

rs_ID	r²[population]
rs10409485	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10413735	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs10416743	0.93[ASN][1000 genomes]
rs10417311	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10417997	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs10420556	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10422783	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10422956	0.87[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10432268	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1043413	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs1077856	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10853751	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11083618	0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11083619	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11667848	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11667908	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11668924	0.81[AMR][1000 genomes];0.87[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11670583	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11670668	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs11670725	0.86[EUR][1000 genomes]
rs11670757	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11880539	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11883104	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs12602	0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12709849	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs12980966	0.82[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs13344547	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13344563	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs13345590	0.86[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs13346603	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1473248	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs166925	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs16975238	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17318596	0.84[ASN][1000 genomes]
rs17318666	0.83[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1967333	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs1967334	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2231940	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2241706	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2241707	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2241708	0.83[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2241709	0.82[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2241710	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2241711	0.85[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2288871	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs2304242	0.83[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2569400	0.83[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs2569754	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs284648	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs284649	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs284650	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs284651	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284652	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284654	0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284655	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284656	0.84[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284657	0.82[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284658	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs284660	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs284661	0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs284662	0.85[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs284663	0.81[AMR][1000 genomes];0.85[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs3213860	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3213861	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3745290	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs3745292	0.85[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3786553	0.85[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3810174	0.91[AMR][1000 genomes];0.94[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3810175	0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs3816037	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs3826713	0.90[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs4605279	0.85[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4674	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs4802116	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4802117	0.86[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4802118	0.81[AMR][1000 genomes];0.83[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs4803461	0.84[AMR][1000 genomes];0.91[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4803462	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4803463	0.88[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4803465	0.82[AMR][1000 genomes];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4803467	0.83[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4803468	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs4803469	0.84[AMR][1000 genomes];0.87[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs55986560	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs58961854	0.83[EUR][1000 genomes];0.84[ASN][1000 genomes]
rs62117461	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs62117462	0.86[AMR][1000 genomes];0.94[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs6508977	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7247332	0.89[AMR][1000 genomes];0.93[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs7255918	0.83[AMR][1000 genomes];0.91[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs7258973	0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs8103531	0.83[AMR][1000 genomes];0.96[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs8105450	0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs8105833	0.90[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs878082	0.90[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs878083	0.95[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs892044	0.89[AMR][1000 genomes];0.88[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs9304593	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv996035	chr19:41881445-41887549	Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:122 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:41871200-41888600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr19:41871400-41888400	Weak transcription	Dnd41	blood
3	chr19:41880400-41894000	Weak transcription	HSMMtube	muscle
4	chr19:41882800-41886400	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
5	chr19:41882800-41895400	Weak transcription	Psoas Muscle	Psoas
6	chr19:41882800-41895600	Weak transcription	HSMM	muscle
7	chr19:41883000-41885200	Enhancers	Primary hematopoietic stem cells	blood
8	chr19:41883000-41885400	Weak transcription	NHDF-Ad	bronchial
9	chr19:41883000-41886000	Weak transcription	NH-A	brain
10	chr19:41883000-41887600	Weak transcription	Fetal Intestine Small	intestine
11	chr19:41883000-41888000	Weak transcription	A549	lung
12	chr19:41883000-41888400	Weak transcription	Primary T cells from cord blood	blood
13	chr19:41883000-41890400	Weak transcription	Fetal Lung	lung
14	chr19:41883000-41891200	Weak transcription	Placenta Amnion	Placenta Amnion
15	chr19:41883000-41891800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
16	chr19:41883000-41892600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
17	chr19:41883000-41895400	Weak transcription	Rectal Mucosa Donor 31	rectum
18	chr19:41883000-41895600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
19	chr19:41883000-41895600	Weak transcription	Aorta	Aorta
20	chr19:41883000-41896000	Weak transcription	Small Intestine	intestine
21	chr19:41883000-41896000	Weak transcription	HUVEC	blood vessel
22	chr19:41883000-41902800	Weak transcription	Stomach Mucosa	stomach
23	chr19:41883200-41885200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr19:41883200-41885400	Weak transcription	NHEK	skin
25	chr19:41883200-41885600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
26	chr19:41883200-41886000	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
27	chr19:41883200-41886000	Weak transcription	Fetal Heart	heart
28	chr19:41883200-41888000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
29	chr19:41883200-41888000	Weak transcription	Brain Cingulate Gyrus	brain
30	chr19:41883200-41888400	Weak transcription	Cortex derived primary cultured neurospheres	brain
31	chr19:41883200-41888400	Weak transcription	Left Ventricle	heart
32	chr19:41883200-41888600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
33	chr19:41883200-41888600	Weak transcription	Brain Angular Gyrus	brain
34	chr19:41883200-41888600	Weak transcription	Brain Inferior Temporal Lobe	brain
35	chr19:41883200-41888600	Weak transcription	Fetal Intestine Large	intestine
36	chr19:41883200-41888600	Weak transcription	Ovary	ovary
37	chr19:41883200-41889600	Weak transcription	Gastric	stomach
38	chr19:41883200-41890400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
39	chr19:41883200-41890400	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
40	chr19:41883200-41891200	Weak transcription	Liver	Liver
41	chr19:41883200-41891200	Weak transcription	Placenta	Placenta
42	chr19:41883200-41891800	Weak transcription	Pancreas	Pancrea
43	chr19:41883200-41891800	Weak transcription	Rectal Mucosa Donor 29	rectum
44	chr19:41883200-41892000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:41883200-41892200	Weak transcription	Duodenum Mucosa	Duodenum
46	chr19:41883200-41892600	Weak transcription	NHLF	lung
47	chr19:41883200-41892800	Weak transcription	Brain Substantia Nigra	brain
48	chr19:41883200-41892800	Weak transcription	Sigmoid Colon	Sigmoid Colon
49	chr19:41883200-41893200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
50	chr19:41883200-41893800	Weak transcription	Esophagus	oesophagus

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