Variant report

Variant	rs7246329
Chromosome Location	chr19:39951316-39951317
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr19:39948878..39954067-chr19:39954959..39958425,6	K562	blood:
2	chr19:39950586..39952165-chr19:39983591..39985551,2	K562	blood:
3	chr19:39948861..39951537-chr19:39958018..39962971,5	K562	blood:
4	chr19:39950484..39953457-chr19:39955468..39957476,3	K562	blood:
5	chr19:39950441..39952521-chr19:39955267..39958188,2	MCF-7	breast:
6	chr19:39922266..39923824-chr19:39949808..39952006,2	K562	blood:

Variant related genes	Relation type
ENSG00000196235	Chromatin interaction

Extended variants
information (count: 22 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:17)

rs_ID	r²[population]
rs10420073	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10423161	0.82[AMR][1000 genomes];0.86[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs10423921	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs10426543	0.94[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs11882744	0.87[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs1529733	0.99[AFR][1000 genomes];0.92[AMR][1000 genomes];0.97[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs45568533	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4802030	0.92[AFR][1000 genomes];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4803238	0.86[EUR][1000 genomes]
rs4803244	0.91[AFR][1000 genomes];0.88[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs59269050	0.91[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs61480418	0.87[AFR][1000 genomes];0.86[AMR][1000 genomes];0.87[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs62120691	0.88[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7245986	0.84[AFR][1000 genomes];0.87[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs73035459	0.88[AFR][1000 genomes];0.86[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73035461	0.91[AFR][1000 genomes];0.86[AMR][1000 genomes];0.93[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs8106642	0.81[ASN][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	nsv911689	chr19:39903088-40021759	Bivalent Enhancer Flanking Bivalent TSS/Enh Weak transcription Active TSS Strong transcription Flanking Active TSS Bivalent/Poised TSS Enhancers Genic enhancers Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
2	nsv911690	chr19:39903088-40046863	Weak transcription Bivalent Enhancer Strong transcription Enhancers Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
3	nsv523856	chr19:39913558-39997472	Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	70 gene(s)	inside rSNPs	diseases
4	esv1791966	chr19:39921479-39954931	Weak transcription Enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	64 gene(s)	inside rSNPs	diseases
5	nsv544003	chr19:39937078-39974282	Weak transcription Strong transcription Flanking Active TSS Enhancers Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	20 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:39937000-39971000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr19:39937400-39971000	Weak transcription	Right Atrium	heart
3	chr19:39938600-39967600	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
4	chr19:39939000-39953400	Strong transcription	Fetal Intestine Small	intestine
5	chr19:39939200-39967600	Strong transcription	Fetal Thymus	thymus
6	chr19:39939400-39968800	Strong transcription	Fetal Stomach	stomach
7	chr19:39940000-39952200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
8	chr19:39940000-39968000	Strong transcription	Primary monocytes fromperipheralblood	blood
9	chr19:39940200-39968600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
10	chr19:39940200-39968600	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
11	chr19:39940200-39968800	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
12	chr19:39940200-39970600	Weak transcription	Fetal Heart	heart
13	chr19:39941000-39951800	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
14	chr19:39941200-39952800	Strong transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
15	chr19:39941200-39953200	Strong transcription	Dnd41	blood
16	chr19:39941200-39954200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
17	chr19:39941400-39952200	Strong transcription	Fetal Brain Female	brain
18	chr19:39941400-39967400	Strong transcription	Fetal Intestine Large	intestine
19	chr19:39942000-39967400	Strong transcription	Thymus	Thymus
20	chr19:39942000-39967600	Strong transcription	Sigmoid Colon	Sigmoid Colon
21	chr19:39942200-39953200	Strong transcription	Brain Angular Gyrus	brain
22	chr19:39942200-39967600	Strong transcription	Primary B cells from peripheral blood	blood
23	chr19:39942200-39967600	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
24	chr19:39942200-39967600	Strong transcription	Placenta	Placenta
25	chr19:39942200-39967600	Strong transcription	Monocytes-CD14+_RO01746	blood
26	chr19:39942200-39967800	Strong transcription	Primary neutrophils fromperipheralblood	blood
27	chr19:39942400-39952400	Strong transcription	Duodenum Mucosa	Duodenum
28	chr19:39942400-39953400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
29	chr19:39942600-39953800	Strong transcription	Ovary	ovary
30	chr19:39942600-39967600	Strong transcription	Liver	Liver
31	chr19:39942800-39967400	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
32	chr19:39942800-39967800	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
33	chr19:39943000-39952200	Strong transcription	GM12878-XiMat	blood
34	chr19:39943000-39952400	Strong transcription	Primary T helper 17 cells PMA-I stimulated	--
35	chr19:39943000-39967200	Strong transcription	Primary T cells fromperipheralblood	blood
36	chr19:39943000-39967800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
37	chr19:39943200-39967800	Strong transcription	Duodenum Smooth Muscle	Duodenum
38	chr19:39943400-39967400	Strong transcription	Primary T helper cells fromperipheralblood	blood
39	chr19:39944000-39953600	Strong transcription	Left Ventricle	heart
40	chr19:39944000-39967400	Strong transcription	Primary T helper cells PMA-I stimulated	--
41	chr19:39944200-39952000	Strong transcription	Skeletal Muscle Male	skeletal muscle
42	chr19:39945200-39952200	Strong transcription	Rectal Smooth Muscle	rectum
43	chr19:39945400-39952200	Strong transcription	Esophagus	oesophagus
44	chr19:39945800-39955400	Weak transcription	Hela-S3	cervix
45	chr19:39945800-39966200	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr19:39946600-39951800	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
47	chr19:39946600-39952200	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
48	chr19:39946600-39967600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
49	chr19:39946600-39967600	Strong transcription	Primary B cells from cord blood	blood
50	chr19:39946600-39967800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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