Variant report

Variant	rs2368476
Chromosome Location	chr19:39167141-39167142
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:11)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:11 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39165775..39169288-chr19:39170285..39176842,12	K562	blood:
2	chr19:39147217..39149377-chr19:39166896..39169670,2	K562	blood:
3	chr19:39033486..39035242-chr19:39166999..39169094,2	K562	blood:
4	chr19:39166252..39167200-chr19:39176404..39177019,2	K562	blood:
5	chr19:39127191..39129568-chr19:39165594..39168572,2	K562	blood:
6	chr19:39165534..39167288-chr19:39388253..39390759,2	K562	blood:
7	chr19:39165622..39167893-chr19:39189221..39191148,2	K562	blood:
8	chr19:39166875..39169119-chr19:39190078..39191942,2	MCF-7	breast:
9	chr19:39164829..39167180-chr19:39341258..39342878,2	MCF-7	breast:
10	chr19:39166293..39168892-chr19:39172787..39174443,3	MCF-7	breast:
11	chr19:39164276..39166665-chr19:39166865..39169150,2	K562	blood:

No data

Variant related genes	Relation type
ENSG00000104825	Chromatin interaction
ENSG00000068903	Chromatin interaction
ENSG00000104824	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:7)

rs_ID	r²[population]
rs12052046	0.89[AFR][1000 genomes];0.82[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs67953948	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73032668	0.83[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes]
rs73032691	0.89[AFR][1000 genomes];0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs73034621	0.89[AFR][1000 genomes]
rs8103824	0.84[AFR][1000 genomes]
rs888995	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv833826	chr19:38945106-39184547	Strong transcription Genic enhancers Enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
2	nsv833827	chr19:38993054-39184547	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	35 gene(s)	inside rSNPs	diseases
3	nsv833828	chr19:39084759-39257979	Enhancers Strong transcription Genic enhancers Weak transcription Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
4	nsv1057899	chr19:39088319-39475493	Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Weak transcription Transcr. at gene 5' and 3' Enhancers Bivalent Enhancer Active TSS Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
5	nsv1057901	chr19:39112486-39174332	Genic enhancers Strong transcription Flanking Active TSS Enhancers Weak transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	25 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39158800-39167600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
2	chr19:39159600-39169600	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
3	chr19:39160400-39173400	Weak transcription	Brain Germinal Matrix	brain
4	chr19:39161200-39176000	Weak transcription	Fetal Brain Male	brain
5	chr19:39161200-39176000	Weak transcription	Fetal Brain Female	brain
6	chr19:39162200-39173400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
7	chr19:39162400-39172000	Enhancers	Left Ventricle	heart
8	chr19:39162600-39169400	Genic enhancers	A549	lung
9	chr19:39162800-39169400	Weak transcription	Pancreatic Islets	Pancreatic Islet
10	chr19:39162800-39173200	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
11	chr19:39163800-39167600	Enhancers	Placenta	Placenta
12	chr19:39164400-39167600	Enhancers	Adipose Nuclei	Adipose
13	chr19:39164400-39172600	Enhancers	Small Intestine	intestine
14	chr19:39164400-39200200	Genic enhancers	Fetal Intestine Small	intestine
15	chr19:39164600-39167200	Enhancers	Fetal Intestine Large	intestine
16	chr19:39164600-39167400	Enhancers	Primary monocytes fromperipheralblood	blood
17	chr19:39164600-39167400	Enhancers	Lung	lung
18	chr19:39164600-39167600	Enhancers	Brain Substantia Nigra	brain
19	chr19:39164600-39167600	Enhancers	Right Ventricle	heart
20	chr19:39164600-39167800	Enhancers	Fetal Adrenal Gland	Adrenal Gland
21	chr19:39164600-39167800	Enhancers	Fetal Lung	lung
22	chr19:39164600-39168000	Genic enhancers	Fetal Stomach	stomach
23	chr19:39164600-39170400	Enhancers	Right Atrium	heart
24	chr19:39164600-39170800	Genic enhancers	Osteobl	bone
25	chr19:39164600-39173800	Genic enhancers	HepG2	liver
26	chr19:39164600-39178200	Enhancers	Primary T cells fromperipheralblood	blood
27	chr19:39164800-39167200	Enhancers	H1 Cell Line	embryonic stem cell
28	chr19:39164800-39167200	Enhancers	Liver	Liver
29	chr19:39164800-39167200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr19:39164800-39167400	Genic enhancers	ES-I3 Cell Line	embryonic stem cell
31	chr19:39164800-39167400	Enhancers	NHLF	lung
32	chr19:39164800-39167600	Enhancers	iPS-20b Cell Line	embryonic stem cell
33	chr19:39164800-39167600	Enhancers	Esophagus	oesophagus
34	chr19:39164800-39167600	Flanking Active TSS	K562	blood
35	chr19:39164800-39167800	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
36	chr19:39164800-39167800	Enhancers	Brain Anterior Caudate	brain
37	chr19:39164800-39167800	Enhancers	Brain Cingulate Gyrus	brain
38	chr19:39164800-39167800	Enhancers	Brain Inferior Temporal Lobe	brain
39	chr19:39164800-39167800	Genic enhancers	HSMM	muscle
40	chr19:39164800-39168400	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
41	chr19:39164800-39169800	Enhancers	Primary hematopoietic stem cells	blood
42	chr19:39164800-39170200	Genic enhancers	Rectal Mucosa Donor 29	rectum
43	chr19:39164800-39170600	Enhancers	Primary B cells from peripheral blood	blood
44	chr19:39164800-39170800	Enhancers	Brain Hippocampus Middle	brain
45	chr19:39164800-39170800	Enhancers	Psoas Muscle	Psoas
46	chr19:39164800-39171000	Genic enhancers	Rectal Mucosa Donor 31	rectum
47	chr19:39164800-39171400	Genic enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
48	chr19:39164800-39172600	Enhancers	Primary T helper cells fromperipheralblood	blood
49	chr19:39164800-39173800	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
50	chr19:39164800-39177600	Enhancers	Primary T helper naive cells from peripheral blood	blood

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