Variant report

Variant	rs10424731
Chromosome Location	chr19:44082298-44082299
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:44077678..44083171-chr19:44093489..44103015,14	K562	blood:
2	chr19:44077687..44082496-chr19:44098234..44103069,7	MCF-7	breast:

Variant related genes	Relation type
ENSG00000268361	Chromatin interaction
ENSG00000167378	Chromatin interaction
ENSG00000226763	Chromatin interaction
ENSG00000124444	Chromatin interaction

Extended variants
information (count: 13 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:10)

rs_ID	r²[population]
rs10404317	1.00[AFR][1000 genomes]
rs10419662	0.86[AFR][1000 genomes]
rs10419957	0.86[AFR][1000 genomes]
rs10424743	0.86[AFR][1000 genomes]
rs11553659	1.00[CHB][hapmap]
rs28516671	0.86[AFR][1000 genomes]
rs3213238	1.00[AFR][1000 genomes]
rs3213298	1.00[AFR][1000 genomes]
rs3213304	1.00[AFR][1000 genomes]
rs3213324	1.00[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1056721	chr19:43808474-44095077	Strong transcription Weak transcription Active TSS Flanking Active TSS Enhancers ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	25 gene(s)	inside rSNPs	diseases
2	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
3	nsv1063149	chr19:44059081-44087583	Weak transcription Strong transcription Flanking Active TSS Active TSS Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	11 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:100 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:44079800-44084000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
2	chr19:44079800-44085400	Weak transcription	Gastric	stomach
3	chr19:44079800-44098200	Weak transcription	Small Intestine	intestine
4	chr19:44080200-44084000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr19:44080400-44082400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr19:44080400-44083800	Weak transcription	HUES48 Cell Line	embryonic stem cell
7	chr19:44080400-44084000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
8	chr19:44080400-44084000	Weak transcription	iPS-15b Cell Line	embryonic stem cell
9	chr19:44080400-44084000	Weak transcription	Brain Angular Gyrus	brain
10	chr19:44080400-44084000	Weak transcription	Brain Anterior Caudate	brain
11	chr19:44080400-44084000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
12	chr19:44080400-44084000	Weak transcription	Duodenum Mucosa	Duodenum
13	chr19:44080400-44084000	Weak transcription	NHLF	lung
14	chr19:44080400-44084200	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
15	chr19:44080400-44084200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
16	chr19:44080400-44084200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
17	chr19:44080400-44084200	Weak transcription	Liver	Liver
18	chr19:44080400-44084200	Weak transcription	Left Ventricle	heart
19	chr19:44080400-44084200	Weak transcription	Lung	lung
20	chr19:44080400-44084200	Weak transcription	Placenta Amnion	Placenta Amnion
21	chr19:44080400-44084200	Weak transcription	Right Atrium	heart
22	chr19:44080400-44084200	Weak transcription	Skeletal Muscle Female	skeletal muscle
23	chr19:44080400-44084200	Weak transcription	HUVEC	blood vessel
24	chr19:44080400-44090200	Weak transcription	HSMM	muscle
25	chr19:44080600-44083800	Weak transcription	Primary hematopoietic stem cells	blood
26	chr19:44080600-44083800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
27	chr19:44080600-44083800	Weak transcription	Fetal Lung	lung
28	chr19:44080600-44084000	Weak transcription	Primary T cells from cord blood	blood
29	chr19:44080600-44084000	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:44080600-44084000	Weak transcription	Primary T helper cells fromperipheralblood	blood
31	chr19:44080600-44084000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
32	chr19:44080600-44084000	Weak transcription	Brain Hippocampus Middle	brain
33	chr19:44080600-44084000	Weak transcription	Brain Inferior Temporal Lobe	brain
34	chr19:44080600-44084000	Weak transcription	Brain Substantia Nigra	brain
35	chr19:44080600-44084000	Weak transcription	Colonic Mucosa	Colon
36	chr19:44080600-44084000	Weak transcription	Colon Smooth Muscle	Colon
37	chr19:44080600-44084000	Weak transcription	Fetal Intestine Large	intestine
38	chr19:44080600-44084000	Weak transcription	Fetal Intestine Small	intestine
39	chr19:44080600-44084000	Weak transcription	Ovary	ovary
40	chr19:44080600-44084000	Weak transcription	Rectal Smooth Muscle	rectum
41	chr19:44080600-44084000	Weak transcription	K562	blood
42	chr19:44080600-44084000	Weak transcription	NH-A	brain
43	chr19:44080600-44084200	Weak transcription	Primary neutrophils fromperipheralblood	blood
44	chr19:44080600-44084200	Weak transcription	Primary T helper cells PMA-I stimulated	--
45	chr19:44080600-44084200	Weak transcription	Muscle Satellite Cultured Cells	--
46	chr19:44080600-44084200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
47	chr19:44080600-44084200	Weak transcription	Right Ventricle	heart
48	chr19:44080600-44084400	Weak transcription	Spleen	Spleen
49	chr19:44080600-44090800	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
50	chr19:44080600-44095600	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood

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