Variant report

Variant	rs10410399
Chromosome Location	chr19:19206500-19206501
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	TEAD4	chr19:19206445-19206925	HepG2	liver:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19205430..19208047-chr19:19210402..19213309,3	K562	blood:

Variant related genes	Relation type
SLC25A42	TF binding region
ENSG00000181035	Chromatin interaction

Extended variants
information (count: 18 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:16)

rs_ID	r²[population]
rs10403272	1.00[ASW][hapmap];0.92[CEU][hapmap];0.96[GIH][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11085249	0.92[CEU][hapmap];0.82[EUR][1000 genomes]
rs12978990	0.95[ASN][1000 genomes]
rs2013585	0.83[ASN][1000 genomes]
rs2013813	1.00[ASW][hapmap];0.85[CEU][hapmap];0.96[GIH][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap]
rs2269807	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs3761083	0.87[ASN][1000 genomes]
rs4808176	1.00[ASW][hapmap];0.85[CEU][hapmap];0.95[GIH][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes]
rs4808177	0.88[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808182	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.92[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs4808895	0.85[CEU][hapmap];0.82[EUR][1000 genomes]
rs4808917	0.91[CEU][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.94[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs6511019	1.00[ASW][hapmap];0.91[CEU][hapmap];1.00[CHB][hapmap];0.88[CHD][hapmap];1.00[MKK][hapmap];0.94[TSI][hapmap];1.00[YRI][hapmap];0.83[AMR][1000 genomes];0.88[EUR][1000 genomes];0.82[ASN][1000 genomes]
rs7252615	0.83[AMR][1000 genomes]
rs756792	0.84[CEU][hapmap]
rs757222	1.00[AFR][1000 genomes];0.91[AMR][1000 genomes];0.89[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	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
2	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

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs10410399	SFRS14	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:85 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr19:19175400-19207800	Weak transcription	Aorta	Aorta
2	chr19:19176400-19215200	Weak transcription	Sigmoid Colon	Sigmoid Colon
3	chr19:19176400-19215800	Weak transcription	Rectal Smooth Muscle	rectum
4	chr19:19176400-19215800	Weak transcription	NHLF	lung
5	chr19:19176600-19206800	Weak transcription	Fetal Brain Female	brain
6	chr19:19176600-19207200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
7	chr19:19176600-19208200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
8	chr19:19177000-19210000	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
9	chr19:19177200-19215400	Weak transcription	Colonic Mucosa	Colon
10	chr19:19180200-19216000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
11	chr19:19180400-19207200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr19:19180400-19207800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
13	chr19:19180400-19208000	Weak transcription	Brain Angular Gyrus	brain
14	chr19:19180400-19208000	Weak transcription	Rectal Mucosa Donor 29	rectum
15	chr19:19180400-19208200	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr19:19180400-19216400	Weak transcription	Colon Smooth Muscle	Colon
17	chr19:19180400-19219800	Weak transcription	HSMMtube	muscle
18	chr19:19180600-19208200	Weak transcription	Fetal Lung	lung
19	chr19:19180600-19213600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
20	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
21	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
22	chr19:19185400-19208400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
23	chr19:19185400-19221200	Weak transcription	Primary hematopoietic stem cells	blood
24	chr19:19185600-19207200	Weak transcription	Duodenum Mucosa	Duodenum
25	chr19:19185600-19211400	Weak transcription	Pancreas	Pancrea
26	chr19:19186400-19206800	Weak transcription	Fetal Thymus	thymus
27	chr19:19186800-19207400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
28	chr19:19186800-19215200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
29	chr19:19187400-19207800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
30	chr19:19188400-19209800	Weak transcription	Primary T helper cells PMA-I stimulated	--
31	chr19:19189400-19207200	Weak transcription	Brain Anterior Caudate	brain
32	chr19:19192800-19207800	Weak transcription	Adipose Nuclei	Adipose
33	chr19:19194200-19214000	Weak transcription	K562	blood
34	chr19:19194400-19208000	Weak transcription	Left Ventricle	heart
35	chr19:19194600-19206600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
36	chr19:19194600-19206600	Weak transcription	Skeletal Muscle Female	skeletal muscle
37	chr19:19194600-19229400	Weak transcription	Dnd41	blood
38	chr19:19194800-19207800	Weak transcription	Right Ventricle	heart
39	chr19:19194800-19211400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
40	chr19:19194800-19215400	Weak transcription	Placenta Amnion	Placenta Amnion
41	chr19:19195000-19207800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
42	chr19:19195000-19207800	Weak transcription	Brain Germinal Matrix	brain
43	chr19:19195200-19206800	Weak transcription	Esophagus	oesophagus
44	chr19:19195600-19206600	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
45	chr19:19196200-19208000	Weak transcription	Brain Cingulate Gyrus	brain
46	chr19:19197400-19222600	Weak transcription	GM12878-XiMat	blood
47	chr19:19198800-19206600	Weak transcription	Brain Substantia Nigra	brain
48	chr19:19198800-19209000	Weak transcription	Brain Hippocampus Middle	brain
49	chr19:19199000-19216200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
50	chr19:19200800-19206600	Weak transcription	Fetal Muscle Trunk	muscle

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