Variant report

Variant	rs2912410
Chromosome Location	chr19:37068081-37068082
allele	C/G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:37063014..37065659-chr19:37066533..37068326,2	MCF-7	breast:
2	chr19:37062757..37067111-chr19:37067178..37071986,8	K562	blood:
3	chr19:37017864..37019585-chr19:37067468..37069306,2	K562	blood:
4	chr19:37062757..37066475-chr19:37067178..37075829,11	K562	blood:

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-AC092295.7.1-3	chr19:37068043-37068817	ENSG00000233527.4

Variant related genes	Relation type
ENSG00000186020	Chromatin interaction
ENSG00000233527	Chromatin interaction
ENSG00000228629	Chromatin interaction
ENSG00000254004	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:3)

rs_ID	r²[population]
rs2912405	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs2967422	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes]
rs4239586	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:7 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1064851	chr19:36910259-37689721	Weak transcription ZNF genes & repeats Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	62 gene(s)	inside rSNPs	diseases
2	nsv1065698	chr19:36916796-37690124	Active TSS ZNF genes & repeats Weak transcription Strong transcription Enhancers Flanking Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
3	nsv543999	chr19:36916796-37690124	Flanking Active TSS Active TSS Weak transcription ZNF genes & repeats Strong transcription Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	61 gene(s)	inside rSNPs	diseases
4	nsv529817	chr19:36930549-37654062	ZNF genes & repeats Weak transcription Enhancers Flanking Active TSS Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS Genic enhancers Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
5	nsv833817	chr19:36978852-37195695	ZNF genes & repeats Weak transcription Active TSS Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
6	nsv918028	chr19:37020645-38014526	Weak transcription ZNF genes & repeats Active TSS Enhancers Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	73 gene(s)	inside rSNPs	diseases
7	esv3334779	chr19:37050161-37076919	Active TSS Enhancers Weak transcription ZNF genes & repeats Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	18 gene(s)	inside rSNPs	n/a

No data

Chromatin state (count:127 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:37064600-37068800	ZNF genes & repeats	A549	lung
2	chr19:37065600-37068200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr19:37065600-37068600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
4	chr19:37065600-37069600	Weak transcription	Psoas Muscle	Psoas
5	chr19:37065600-37070200	Weak transcription	HSMMtube	muscle
6	chr19:37065600-37070200	Weak transcription	NHLF	lung
7	chr19:37065600-37081200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
8	chr19:37065600-37095400	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
9	chr19:37065800-37068400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
10	chr19:37065800-37068400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr19:37065800-37068400	Weak transcription	Right Atrium	heart
12	chr19:37065800-37069400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
13	chr19:37065800-37070000	Weak transcription	Brain Angular Gyrus	brain
14	chr19:37065800-37071200	Weak transcription	Brain Substantia Nigra	brain
15	chr19:37065800-37072000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
16	chr19:37065800-37072600	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
17	chr19:37065800-37075200	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
18	chr19:37065800-37076600	Weak transcription	Stomach Mucosa	stomach
19	chr19:37065800-37078200	Weak transcription	Right Ventricle	heart
20	chr19:37066000-37068200	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
21	chr19:37066000-37068200	Weak transcription	HMEC	breast
22	chr19:37066000-37070200	Weak transcription	Brain Anterior Caudate	brain
23	chr19:37066000-37081200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
24	chr19:37066000-37081200	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Female	--
25	chr19:37066200-37068200	Weak transcription	HUES48 Cell Line	embryonic stem cell
26	chr19:37066200-37068200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr19:37066200-37068200	Weak transcription	Brain Inferior Temporal Lobe	brain
28	chr19:37066200-37068200	Weak transcription	K562	blood
29	chr19:37066200-37070200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:37066200-37070200	Weak transcription	Fetal Brain Male	brain
31	chr19:37066200-37070200	Weak transcription	Fetal Heart	heart
32	chr19:37066200-37071400	Weak transcription	HepG2	liver
33	chr19:37066200-37073200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
34	chr19:37066600-37070200	ZNF genes & repeats	Primary monocytes fromperipheralblood	blood
35	chr19:37066600-37072000	Strong transcription	HUVEC	blood vessel
36	chr19:37066600-37073200	Strong transcription	Fetal Muscle Leg	muscle
37	chr19:37066600-37073400	ZNF genes & repeats	Breast Myoepithelial Primary Cells	Breast
38	chr19:37066600-37073400	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
39	chr19:37066600-37073400	ZNF genes & repeats	Monocytes-CD14+_RO01746	blood
40	chr19:37066600-37074200	ZNF genes & repeats	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr19:37066600-37074200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
42	chr19:37066600-37080600	ZNF genes & repeats	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
43	chr19:37066800-37070200	ZNF genes & repeats	Fetal Intestine Large	intestine
44	chr19:37066800-37070200	ZNF genes & repeats	Fetal Intestine Small	intestine
45	chr19:37066800-37070600	ZNF genes & repeats	H1 Derived Mesenchymal Stem Cells	ES cell derived
46	chr19:37066800-37074400	ZNF genes & repeats	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr19:37066800-37081000	Strong transcription	Dnd41	blood
48	chr19:37066800-37091400	ZNF genes & repeats	Primary hematopoietic stem cells G-CSF-mobilized Male	--
49	chr19:37067000-37069800	Strong transcription	Fetal Muscle Trunk	muscle
50	chr19:37067000-37070200	Strong transcription	Rectal Mucosa Donor 31	rectum

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