Variant report

Variant	rs10419240
Chromosome Location	chr19:19635497-19635498
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:1)
CpG islands
(count:0)
Chromatin interactive
region (count:5)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

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

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	CTCF	chr19:19635360-19635510	GM12878	blood:	n/a	n/a

No data

(count:5 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19626407..19628421-chr19:19634732..19637865,3	MCF-7	breast:
2	chr19:19626454..19628383-chr19:19635044..19637178,4	MCF-7	breast:
3	chr19:19625442..19631834-chr19:19631841..19636968,12	K562	blood:
4	chr19:19634659..19637641-chr19:19737482..19739194,2	MCF-7	breast:
5	chr19:19635157..19637400-chr19:19754505..19756149,2	K562	blood:

No data

Variant related genes	Relation type
YJEFN3	TF binding region
ENSG00000186010	Chromatin interaction
ENSG00000178093	Chromatin interaction
ENSG00000258674	Chromatin interaction
ENSG00000064547	Chromatin interaction

Extended variants
information (count: 21 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10404656	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10407522	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10409927	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10412787	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10419026	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs10426633	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs13344439	0.90[AMR][1000 genomes]
rs16996085	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs16996119	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28434154	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28553975	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60455087	0.90[AMR][1000 genomes]
rs7254150	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73922883	1.00[AMR][1000 genomes]
rs73922888	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs952609	0.80[AMR][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	nsv911305	chr19:19303802-19663850	Genic enhancers Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Active TSS ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	60 gene(s)	inside rSNPs	diseases
2	esv1828240	chr19:19591146-19900900	Weak transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
3	nsv1063273	chr19:19591146-20061367	ZNF genes & repeats Genic enhancers Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	67 gene(s)	inside rSNPs	diseases
4	nsv911307	chr19:19631655-19657143	Bivalent Enhancer Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
5	nsv911308	chr19:19631655-19663850	Strong transcription Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	13 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	chr19:19627600-19636200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr19:19628000-19636000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr19:19628000-19638000	Weak transcription	Fetal Lung	lung
4	chr19:19628000-19640800	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:19628200-19636200	Weak transcription	Fetal Heart	heart
6	chr19:19628200-19636200	Weak transcription	Right Atrium	heart
7	chr19:19628200-19642800	Weak transcription	Stomach Mucosa	stomach
8	chr19:19628200-19643000	Weak transcription	HUVEC	blood vessel
9	chr19:19628400-19639200	Weak transcription	Psoas Muscle	Psoas
10	chr19:19628400-19640800	Weak transcription	HMEC	breast
11	chr19:19628400-19642800	Weak transcription	Hela-S3	cervix
12	chr19:19628600-19635800	Weak transcription	Rectal Smooth Muscle	rectum
13	chr19:19628600-19636400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
14	chr19:19629000-19636800	Weak transcription	Colon Smooth Muscle	Colon
15	chr19:19629000-19637200	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
16	chr19:19629000-19638600	Weak transcription	HepG2	liver
17	chr19:19629000-19643600	Weak transcription	Small Intestine	intestine
18	chr19:19630400-19639200	Weak transcription	Fetal Brain Male	brain
19	chr19:19630400-19643000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
20	chr19:19630600-19636000	Weak transcription	Esophagus	oesophagus
21	chr19:19630600-19636200	Weak transcription	Fetal Brain Female	brain
22	chr19:19630600-19636800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
23	chr19:19630600-19642800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr19:19630600-19651800	Weak transcription	A549	lung
25	chr19:19630800-19635800	Weak transcription	H9 Cell Line	embryonic stem cell
26	chr19:19630800-19635800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
27	chr19:19630800-19635800	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
28	chr19:19630800-19636000	Weak transcription	NHLF	lung
29	chr19:19630800-19636200	Weak transcription	Placenta Amnion	Placenta Amnion
30	chr19:19630800-19636600	Weak transcription	Aorta	Aorta
31	chr19:19630800-19637000	Weak transcription	Pancreas	Pancrea
32	chr19:19630800-19639200	Weak transcription	Brain Substantia Nigra	brain
33	chr19:19630800-19642800	Weak transcription	NHEK	skin
34	chr19:19630800-19643000	Weak transcription	NHDF-Ad	bronchial
35	chr19:19631000-19636000	Weak transcription	Brain Inferior Temporal Lobe	brain
36	chr19:19631000-19647800	Weak transcription	HSMMtube	muscle
37	chr19:19631200-19637000	Weak transcription	Muscle Satellite Cultured Cells	--
38	chr19:19631400-19636000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
39	chr19:19631800-19636000	Weak transcription	Brain Anterior Caudate	brain
40	chr19:19631800-19636800	Weak transcription	Spleen	Spleen
41	chr19:19632000-19636000	Weak transcription	Primary T cells from cord blood	blood
42	chr19:19632000-19636000	Weak transcription	Brain Cingulate Gyrus	brain
43	chr19:19632000-19636800	Weak transcription	H1 Cell Line	embryonic stem cell
44	chr19:19632000-19636800	Weak transcription	Adipose Nuclei	Adipose
45	chr19:19632000-19637000	Weak transcription	HUES6 Cell Line	embryonic stem cell
46	chr19:19632000-19637000	Weak transcription	Brain Angular Gyrus	brain
47	chr19:19632000-19637400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
48	chr19:19632000-19638000	Weak transcription	NH-A	brain
49	chr19:19632000-19638200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
50	chr19:19632000-19638600	Weak transcription	Osteobl	bone

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