Variant report

Variant	rs234312
Chromosome Location	chr19:40508709-40508710
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	chr19:40501384..40505669-chr19:40506491..40511545,6	K562	blood:
2	chr19:40502132..40504339-chr19:40507669..40510517,2	K562	blood:

Variant related genes	Relation type
ENSG00000187187	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:45)

rs_ID	r²[population]
rs10403646	0.90[AMR][1000 genomes]
rs10410695	1.00[EUR][1000 genomes]
rs10418448	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10419218	1.00[EUR][1000 genomes]
rs10420514	1.00[EUR][1000 genomes]
rs10420687	1.00[EUR][1000 genomes]
rs10421243	1.00[EUR][1000 genomes]
rs10423298	1.00[EUR][1000 genomes]
rs10423800	1.00[EUR][1000 genomes]
rs10427117	0.81[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs11883159	1.00[EUR][1000 genomes]
rs13382054	1.00[EUR][1000 genomes]
rs170898	1.00[EUR][1000 genomes]
rs234297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234307	1.00[EUR][1000 genomes]
rs234316	1.00[EUR][1000 genomes]
rs234319	1.00[EUR][1000 genomes]
rs234321	1.00[EUR][1000 genomes]
rs234322	1.00[EUR][1000 genomes]
rs234327	0.81[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs234339	1.00[EUR][1000 genomes]
rs234342	1.00[EUR][1000 genomes]
rs2542302	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28661993	1.00[EUR][1000 genomes]
rs28776318	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28832070	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs337795	0.80[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs57342065	1.00[EUR][1000 genomes]
rs58348431	1.00[EUR][1000 genomes]
rs59707868	1.00[EUR][1000 genomes]
rs60631264	1.00[EUR][1000 genomes]
rs61424085	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7245930	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7250945	0.80[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7257627	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258111	0.91[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7258718	0.90[AMR][1000 genomes]
rs73930675	1.00[EUR][1000 genomes]
rs73930678	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73930679	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs8111518	1.00[EUR][1000 genomes]
rs8111741	1.00[EUR][1000 genomes]
rs9630860	1.00[EUR][1000 genomes]
rs9630868	1.00[EUR][1000 genomes]
rs9783944	0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv2758498	chr19:40227904-40521130	Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Strong transcription Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
2	esv2758760	chr19:40227904-40521130	Genic enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Enhancers Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv428022	chr19:40227904-40521130	Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Genic enhancers Weak transcription Active TSS ZNF genes & repeats Enhancers Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv917321	chr19:40403192-40694875	Strong transcription Flanking Active TSS Weak transcription ZNF genes & repeats Enhancers Active TSS Genic enhancers Bivalent Enhancer 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	43 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:40503600-40511800	Weak transcription	Ovary	ovary
2	chr19:40503600-40511800	Weak transcription	Spleen	Spleen
3	chr19:40503600-40512000	Weak transcription	Esophagus	oesophagus
4	chr19:40503600-40512400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
5	chr19:40503600-40513000	Weak transcription	Placenta	Placenta
6	chr19:40503600-40514000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr19:40503600-40519200	Weak transcription	Small Intestine	intestine
8	chr19:40503800-40511000	Weak transcription	Right Atrium	heart
9	chr19:40503800-40511400	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
10	chr19:40503800-40512000	Weak transcription	Primary monocytes fromperipheralblood	blood
11	chr19:40503800-40512000	Weak transcription	Lung	lung
12	chr19:40503800-40512200	Weak transcription	Aorta	Aorta
13	chr19:40503800-40512200	Weak transcription	Gastric	stomach
14	chr19:40503800-40512400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
15	chr19:40503800-40512400	Weak transcription	Brain Angular Gyrus	brain
16	chr19:40503800-40512800	Weak transcription	Brain Germinal Matrix	brain
17	chr19:40503800-40513000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
18	chr19:40503800-40513000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
19	chr19:40503800-40513200	Weak transcription	Fetal Intestine Large	intestine
20	chr19:40503800-40513400	Weak transcription	Primary neutrophils fromperipheralblood	blood
21	chr19:40503800-40513400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
22	chr19:40503800-40513400	Weak transcription	Brain Cingulate Gyrus	brain
23	chr19:40503800-40513800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
24	chr19:40503800-40513800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
25	chr19:40503800-40513800	Weak transcription	Fetal Stomach	stomach
26	chr19:40503800-40514000	Weak transcription	Primary T helper naive cells from peripheral blood	blood
27	chr19:40503800-40514000	Weak transcription	Rectal Smooth Muscle	rectum
28	chr19:40503800-40514400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
29	chr19:40503800-40514600	Weak transcription	ES-I3 Cell Line	embryonic stem cell
30	chr19:40503800-40514600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
31	chr19:40503800-40516000	Weak transcription	Fetal Intestine Small	intestine
32	chr19:40504000-40510000	Weak transcription	Stomach Mucosa	stomach
33	chr19:40504000-40511000	Weak transcription	Fetal Heart	heart
34	chr19:40504000-40511200	Weak transcription	Right Ventricle	heart
35	chr19:40504000-40511200	Weak transcription	K562	blood
36	chr19:40504000-40511400	Weak transcription	Brain Hippocampus Middle	brain
37	chr19:40504000-40511800	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
38	chr19:40504000-40512000	Weak transcription	Primary B cells from cord blood	blood
39	chr19:40504000-40512000	Weak transcription	Primary hematopoietic stem cells short term culture	blood
40	chr19:40504000-40512000	Weak transcription	Brain Inferior Temporal Lobe	brain
41	chr19:40504000-40512000	Weak transcription	Monocytes-CD14+_RO01746	blood
42	chr19:40504000-40512200	Weak transcription	Primary B cells from peripheral blood	blood
43	chr19:40504000-40512200	Weak transcription	Primary T cells fromperipheralblood	blood
44	chr19:40504000-40512200	Weak transcription	Primary hematopoietic stem cells	blood
45	chr19:40504000-40512200	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
46	chr19:40504000-40512200	Weak transcription	Adipose Nuclei	Adipose
47	chr19:40504000-40512200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
48	chr19:40504000-40512200	Weak transcription	Fetal Muscle Leg	muscle
49	chr19:40504000-40512200	Weak transcription	Left Ventricle	heart
50	chr19:40504000-40512200	Weak transcription	Pancreas	Pancrea

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