Variant report

Variant	rs10402411
Chromosome Location	chr19:19175245-19175246
allele	C/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:14)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:14 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr19:19172859..19177096-chr19:19213191..19220004,7	K562	blood:
2	chr19:19169646..19176603-chr19:19241603..19250623,23	K562	blood:
3	chr19:19141992..19145925-chr19:19172787..19177854,10	K562	blood:
4	chr1:76250892..76253394-chr19:19175061..19177790,2	K562	blood:
5	chr19:19170341..19177029-chr19:19229928..19235464,11	K562	blood:
6	chr19:19170465..19178046-chr19:19213939..19220242,15	K562	blood:
7	chr19:19143657..19146284-chr19:19174594..19176382,2	MCF-7	breast:
8	chr19:4182504..4183123-chr19:19174511..19175337,2	NB4	blood:
9	chr19:19042101..19044216-chr19:19173856..19175729,2	K562	blood:
10	chr19:19172595..19175925-chr19:19247411..19251399,4	MCF-7	breast:
11	chr19:19169419..19177029-chr19:19229685..19233171,13	K562	blood:
12	chr19:19161417..19167211-chr19:19171135..19175299,5	MCF-7	breast:
13	chr19:19141992..19145825-chr19:19171077..19177701,15	K562	blood:
14	chr19:19169646..19176667-chr19:19241603..19249514,19	K562	blood:

No data

Variant related genes	Relation type
ENSG00000051128	Chromatin interaction
ENSG00000206620	Chromatin interaction
ENSG00000064545	Chromatin interaction
ENSG00000105676	Chromatin interaction
ENSG00000137955	Chromatin interaction
ENSG00000064607	Chromatin interaction
ENSG00000077463	Chromatin interaction
ENSG00000181035	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:29)

rs_ID	r²[population]
rs10403808	0.89[AFR][1000 genomes]
rs10404020	0.80[AFR][1000 genomes]
rs10404077	0.89[AFR][1000 genomes]
rs10405178	0.89[AFR][1000 genomes]
rs10405609	0.85[AFR][1000 genomes]
rs10407980	0.89[AFR][1000 genomes]
rs10409265	0.85[AFR][1000 genomes]
rs10409297	0.95[AFR][1000 genomes]
rs10411786	0.89[AFR][1000 genomes]
rs10413216	0.89[AFR][1000 genomes]
rs10414859	0.95[AFR][1000 genomes]
rs10415998	0.85[AFR][1000 genomes]
rs10422058	0.84[AFR][1000 genomes]
rs10422079	0.86[AFR][1000 genomes]
rs10422238	0.81[AFR][1000 genomes]
rs10422813	0.86[AFR][1000 genomes]
rs10423504	0.97[AFR][1000 genomes]
rs13344835	0.85[AFR][1000 genomes]
rs28374656	0.89[AFR][1000 genomes]
rs28380085	0.86[AFR][1000 genomes]
rs28416794	0.95[AFR][1000 genomes]
rs28475392	0.90[AFR][1000 genomes]
rs28530647	0.95[AFR][1000 genomes]
rs28533991	0.83[AFR][1000 genomes]
rs28582808	0.82[AFR][1000 genomes]
rs28699197	0.90[AFR][1000 genomes]
rs6511012	0.82[AFR][1000 genomes]
rs7252085	0.82[AFR][1000 genomes]
rs7252172	0.92[AFR][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	nsv833778	chr19:19012669-19201487	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	47 gene(s)	inside rSNPs	diseases
2	nsv1059305	chr19:19131310-19209999	Enhancers Weak transcription Strong transcription Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region	21 gene(s)	inside rSNPs	diseases
3	nsv543927	chr19:19147376-19178024	Strong transcription Enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	12 gene(s)	inside rSNPs	diseases
4	nsv833779	chr19:19163492-19313091	Enhancers Strong transcription Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	34 gene(s)	inside rSNPs	diseases
5	esv17267	chr19:19174047-19177125	Flanking Active TSS Active TSS Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	9 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	chr19:19173800-19175400	Active TSS	Rectal Smooth Muscle	rectum
2	chr19:19173800-19175600	Active TSS	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
3	chr19:19174000-19175400	Active TSS	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
4	chr19:19174000-19175400	Active TSS	Aorta	Aorta
5	chr19:19174000-19176200	Active TSS	Gastric	stomach
6	chr19:19174000-19176200	Active TSS	Ovary	ovary
7	chr19:19174000-19176400	Active TSS	Fetal Kidney	kidney
8	chr19:19174000-19176400	Active TSS	Right Atrium	heart
9	chr19:19174000-19176600	Active TSS	Pancreatic Islets	Pancreatic Islet
10	chr19:19174000-19176600	Active TSS	Thymus	Thymus
11	chr19:19174200-19175400	Active TSS	Primary B cells from peripheral blood	blood
12	chr19:19174200-19175400	Active TSS	Primary T helper memory cells from peripheral blood 1	blood
13	chr19:19174200-19175400	Active TSS	Brain Angular Gyrus	brain
14	chr19:19174200-19175400	Active TSS	Brain Anterior Caudate	brain
15	chr19:19174200-19175400	Active TSS	Brain Hippocampus Middle	brain
16	chr19:19174200-19175400	Active TSS	Colon Smooth Muscle	Colon
17	chr19:19174200-19175400	Active TSS	Fetal Brain Female	brain
18	chr19:19174200-19175400	Active TSS	Fetal Heart	heart
19	chr19:19174200-19175400	Active TSS	Fetal Intestine Large	intestine
20	chr19:19174200-19175400	Active TSS	Fetal Intestine Small	intestine
21	chr19:19174200-19175400	Active TSS	Placenta Amnion	Placenta Amnion
22	chr19:19174200-19175400	Active TSS	Sigmoid Colon	Sigmoid Colon
23	chr19:19174200-19175400	Active TSS	GM12878-XiMat	blood
24	chr19:19174200-19175800	Active TSS	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr19:19174200-19175800	Active TSS	Left Ventricle	heart
26	chr19:19174200-19175800	Active TSS	A549	lung
27	chr19:19174200-19175800	Active TSS	HSMMtube	muscle
28	chr19:19174200-19176000	Active TSS	HepG2	liver
29	chr19:19174200-19176200	Active TSS	Primary T helper memory cells from peripheral blood 2	blood
30	chr19:19174200-19176200	Active TSS	Small Intestine	intestine
31	chr19:19174200-19176400	Active TSS	Primary T helper naive cells from peripheral blood	blood
32	chr19:19174200-19176400	Active TSS	Primary T killer memory cells from peripheral blood	blood
33	chr19:19174400-19175400	Active TSS	HSMM	muscle
34	chr19:19174800-19176400	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
35	chr19:19175000-19175400	Flanking Bivalent TSS/Enh	H1 Cell Line	embryonic stem cell
36	chr19:19175000-19175400	Flanking Active TSS	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
37	chr19:19175000-19175400	Flanking Bivalent TSS/Enh	iPS-18 Cell Line	embryonic stem cell
38	chr19:19175000-19175400	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
39	chr19:19175000-19175400	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
40	chr19:19175000-19175400	Flanking Bivalent TSS/Enh	ES-UCSF4 Cell Line	embryonic stem cell
41	chr19:19175000-19175400	Transcr. at gene 5' and 3'	Primary T helper naive cells fromperipheralblood	blood
42	chr19:19175000-19175600	Flanking Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
43	chr19:19175000-19175600	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
44	chr19:19175000-19175800	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
45	chr19:19175000-19175800	Flanking Active TSS	Spleen	Spleen
46	chr19:19175000-19176000	Flanking Active TSS	Foreskin Melanocyte Primary Cells skin01	Skin
47	chr19:19175000-19176000	Flanking Active TSS	Skeletal Muscle Female	skeletal muscle
48	chr19:19175000-19176200	Flanking Active TSS	H1 Derived Mesenchymal Stem Cells	ES cell derived
49	chr19:19175000-19176200	Flanking Active TSS	Primary monocytes fromperipheralblood	blood
50	chr19:19175000-19176200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood

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