Variant report

Variant	rs2240931
Chromosome Location	chr19:44097759-44097760
allele	A/G
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:7)
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	POLR2A	chr19:44097570-44098189	K562	blood:	n/a	n/a

No data

(count:7 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:44077678..44083171-chr19:44093489..44103015,14	K562	blood:
2	chr19:44095727..44098221-chr19:44098700..44101460,5	MCF-7	breast:
3	chr19:44082767..44086072-chr19:44097414..44100193,3	MCF-7	breast:
4	chr19:44096922..44099842-chr19:44324178..44326451,2	K562	blood:
5	chr19:44063536..44067996-chr19:44097389..44100718,5	MCF-7	breast:
6	chr19:44097500..44104541-chr19:44116930..44130620,31	K562	blood:
7	chr19:44093767..44095435-chr19:44097697..44100110,2	MCF-7	breast:

No data

Variant related genes	Relation type
SRRM5	TF binding region
IRGQ	TF binding region
ENSG00000268361	TF binding region
ZNF576	TF binding region
ENSG00000159871	Chromatin interaction
ENSG00000269583	Chromatin interaction
ENSG00000226763	Chromatin interaction
ENSG00000105767	Chromatin interaction
ENSG00000124444	Chromatin interaction
ENSG00000131116	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000073050	Chromatin interaction
ENSG00000234465	Chromatin interaction

Extended variants
information (count: 14 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:13)

rs_ID	r²[population]
rs1799780	0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs25489	1.00[ASW][hapmap];0.89[CHB][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3213278	0.86[AFR][1000 genomes];0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3213287	0.91[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs3213371	1.00[ASW][hapmap];0.89[CHB][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.94[TSI][hapmap];0.86[AFR][1000 genomes];0.82[AMR][1000 genomes]
rs3213385	0.82[AMR][1000 genomes]
rs3213395	1.00[ASW][hapmap];0.89[CHB][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];0.82[MEX][hapmap];0.90[MKK][hapmap];0.94[TSI][hapmap];0.82[AMR][1000 genomes]
rs4251871	1.00[CEU][hapmap]
rs4251875	1.00[CEU][hapmap]
rs4251949	0.87[EUR][1000 genomes]
rs4251952	0.90[EUR][1000 genomes]
rs4251953	1.00[CEU][hapmap];0.88[TSI][hapmap];0.90[EUR][1000 genomes]
rs60814129	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]

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

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv532821	chr19:43842383-44357315	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats 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	62 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44079800-44098200	Weak transcription	Small Intestine	intestine
2	chr19:44084600-44098200	Weak transcription	Primary T helper naive cells from peripheral blood	blood
3	chr19:44085600-44098800	Weak transcription	Psoas Muscle	Psoas
4	chr19:44085600-44099000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
5	chr19:44086000-44098000	Weak transcription	NHDF-Ad	bronchial
6	chr19:44086200-44098000	Weak transcription	Fetal Heart	heart
7	chr19:44086200-44099000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
8	chr19:44086400-44098400	Weak transcription	K562	blood
9	chr19:44087800-44097800	Strong transcription	Ganglion Eminence derived primary cultured neurospheres	brain
10	chr19:44088200-44097800	Strong transcription	Fetal Stomach	stomach
11	chr19:44089000-44097800	Weak transcription	Hela-S3	cervix
12	chr19:44089000-44098200	Weak transcription	Stomach Mucosa	stomach
13	chr19:44089800-44097800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
14	chr19:44090000-44098800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr19:44091200-44098000	Weak transcription	Fetal Kidney	kidney
16	chr19:44092200-44098000	Weak transcription	HSMMtube	muscle
17	chr19:44092800-44098000	Strong transcription	Monocytes-CD14+_RO01746	blood
18	chr19:44092800-44098000	Strong transcription	NHEK	skin
19	chr19:44092800-44098600	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr19:44093000-44097800	Strong transcription	Duodenum Smooth Muscle	Duodenum
21	chr19:44093000-44097800	Strong transcription	Osteobl	bone
22	chr19:44093000-44098000	Strong transcription	HUVEC	blood vessel
23	chr19:44093000-44098200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
24	chr19:44093000-44098200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
25	chr19:44093000-44098200	Strong transcription	Sigmoid Colon	Sigmoid Colon
26	chr19:44093000-44098200	Strong transcription	NHLF	lung
27	chr19:44093000-44098400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr19:44093000-44098400	Strong transcription	Fetal Muscle Trunk	muscle
29	chr19:44093000-44098600	Strong transcription	HUES48 Cell Line	embryonic stem cell
30	chr19:44093200-44098200	Strong transcription	Primary monocytes fromperipheralblood	blood
31	chr19:44093200-44098400	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
32	chr19:44093400-44098000	Strong transcription	Fetal Lung	lung
33	chr19:44094200-44097800	Strong transcription	H1 Cell Line	embryonic stem cell
34	chr19:44094200-44097800	Strong transcription	Placenta Amnion	Placenta Amnion
35	chr19:44094200-44098200	Strong transcription	Right Ventricle	heart
36	chr19:44094400-44098000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
37	chr19:44094600-44097800	Strong transcription	Gastric	stomach
38	chr19:44094600-44098000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
39	chr19:44094600-44098000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
40	chr19:44094600-44098000	Strong transcription	Left Ventricle	heart
41	chr19:44094800-44097800	Strong transcription	Brain Substantia Nigra	brain
42	chr19:44094800-44098000	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
43	chr19:44094800-44098000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
44	chr19:44094800-44098000	Strong transcription	Fetal Thymus	thymus
45	chr19:44094800-44098200	Strong transcription	HUES6 Cell Line	embryonic stem cell
46	chr19:44094800-44098200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
47	chr19:44094800-44098400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
48	chr19:44095000-44098200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
49	chr19:44095000-44098200	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
50	chr19:44095000-44098600	Strong transcription	HUES64 Cell Line	embryonic stem cell

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