Variant report

Variant	rs7250913
Chromosome Location	chr19:39808244-39808245
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:9)
CpG islands
(count:0)
Chromatin interactive
region (count:3)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:9 , 50 per page) page: 1

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	SPI1	chr19:39808103-39808442	HL-60	blood:	n/a	n/a
2	SPI1	chr19:39808157-39808364	GM12878	blood:	n/a	n/a
3	RCOR1	chr19:39808166-39808435	K562	blood:	n/a	n/a
4	SPI1	chr19:39808112-39808354	K562	blood:	n/a	n/a
5	RCOR1	chr19:39808181-39808399	K562	blood:	n/a	n/a
6	SPI1	chr19:39808166-39808369	K562	blood:	n/a	n/a
7	ZNF143	chr19:39808162-39808454	K562	blood:	n/a	n/a
8	SPI1	chr19:39808181-39808423	GM12891	blood:	n/a	n/a
9	SIN3AK20	chr19:39808138-39811714	PANC-1	pancreas:	n/a	n/a

No data

(count:3 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:39784777..39786664-chr19:39806651..39809064,2	MCF-7	breast:
2	chr19:39798629..39800349-chr19:39806035..39808301,3	MCF-7	breast:
3	chr19:39807609..39810419-chr19:39829994..39832837,2	MCF-7	breast:

No data

Variant related genes	Relation type
LRFN1	TF binding region
ENSG00000269246	Chromatin interaction

Extended variants
information (count: 27 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:21)

rs_ID	r²[population]
rs56222183	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs57536536	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs58949744	1.00[AMR][1000 genomes]
rs60577443	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs60840261	1.00[AMR][1000 genomes]
rs61112725	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61124676	1.00[AMR][1000 genomes]
rs61213828	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61595075	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61730567	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7250234	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73544098	1.00[AMR][1000 genomes]
rs73546015	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs73546026	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73546080	1.00[AMR][1000 genomes]
rs73547904	1.00[AMR][1000 genomes]
rs73547972	1.00[AMR][1000 genomes]
rs73553808	1.00[AMR][1000 genomes]
rs73553810	1.00[AMR][1000 genomes]
rs73553812	1.00[AMR][1000 genomes]
rs73553822	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv432048	chr19:39572060-39850060	Bivalent/Poised TSS Bivalent Enhancer Weak transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Active TSS Strong transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	42 gene(s)	inside rSNPs	diseases
2	nsv833830	chr19:39709538-39837846	Enhancers Bivalent Enhancer Genic enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
3	nsv911679	chr19:39735106-39924129	Active TSS Flanking Active TSS Weak transcription Enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	198 gene(s)	inside rSNPs	diseases
4	nsv1058514	chr19:39744112-39902580	Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	187 gene(s)	inside rSNPs	diseases
5	nsv911680	chr19:39792460-39924129	Enhancers Flanking Active TSS Weak transcription Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	194 gene(s)	inside rSNPs	diseases
6	nsv911681	chr19:39797716-39856246	Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Flanking Active TSS Active TSS Bivalent Enhancer Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	29 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:81 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39790400-39809800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
2	chr19:39790600-39810000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
3	chr19:39798200-39809800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
4	chr19:39798600-39810800	Weak transcription	Right Atrium	heart
5	chr19:39798800-39810600	Weak transcription	Primary B cells from cord blood	blood
6	chr19:39799000-39810400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
7	chr19:39799200-39810200	Weak transcription	Placenta Amnion	Placenta Amnion
8	chr19:39799600-39809200	Weak transcription	HUES48 Cell Line	embryonic stem cell
9	chr19:39799800-39810000	Weak transcription	Duodenum Mucosa	Duodenum
10	chr19:39800000-39810200	Weak transcription	Colon Smooth Muscle	Colon
11	chr19:39800200-39809200	Strong transcription	Primary T cells from cord blood	blood
12	chr19:39800400-39810200	Weak transcription	Fetal Lung	lung
13	chr19:39800600-39811000	Weak transcription	Small Intestine	intestine
14	chr19:39801000-39809200	Strong transcription	Thymus	Thymus
15	chr19:39801400-39810400	Weak transcription	Brain Substantia Nigra	brain
16	chr19:39801400-39810600	Weak transcription	Pancreatic Islets	Pancreatic Islet
17	chr19:39802000-39809000	Strong transcription	Brain Germinal Matrix	brain
18	chr19:39802000-39809200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
19	chr19:39802000-39809600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr19:39802200-39808800	Strong transcription	Primary T cells fromperipheralblood	blood
21	chr19:39802200-39808800	Weak transcription	Fetal Brain Male	brain
22	chr19:39802200-39809800	Strong transcription	Primary neutrophils fromperipheralblood	blood
23	chr19:39802200-39810000	Weak transcription	HUES64 Cell Line	embryonic stem cell
24	chr19:39802600-39809800	Weak transcription	K562	blood
25	chr19:39802600-39810800	Weak transcription	Right Ventricle	heart
26	chr19:39803000-39809000	Strong transcription	Fetal Brain Female	brain
27	chr19:39803000-39810600	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
28	chr19:39803600-39810200	Weak transcription	Colonic Mucosa	Colon
29	chr19:39804600-39809000	Weak transcription	Stomach Smooth Muscle	stomach
30	chr19:39804600-39810000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
31	chr19:39804600-39810600	Weak transcription	Primary hematopoietic stem cells	blood
32	chr19:39804800-39809800	Weak transcription	Primary T helper naive cells from peripheral blood	blood
33	chr19:39804800-39810000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
34	chr19:39805000-39809000	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
35	chr19:39805000-39810200	Weak transcription	Primary B cells from peripheral blood	blood
36	chr19:39805600-39809600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
37	chr19:39805600-39810200	Weak transcription	Fetal Muscle Leg	muscle
38	chr19:39805600-39810400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr19:39805800-39808400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr19:39805800-39809400	Weak transcription	Brain Angular Gyrus	brain
41	chr19:39805800-39809800	Weak transcription	Brain Cingulate Gyrus	brain
42	chr19:39805800-39810000	Weak transcription	Brain Anterior Caudate	brain
43	chr19:39805800-39810000	Weak transcription	Brain Hippocampus Middle	brain
44	chr19:39805800-39810800	Weak transcription	Liver	Liver
45	chr19:39806000-39808600	Weak transcription	Fetal Intestine Small	intestine
46	chr19:39806000-39809000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
47	chr19:39806000-39809400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
48	chr19:39806000-39809600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
49	chr19:39806000-39809600	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:39806000-39809600	Weak transcription	Pancreas	Pancrea

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