Variant report

Variant	rs7248399
Chromosome Location	chr19:19202350-19202351
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr19:19199847..19202839-chr19:19202907..19204778,2	K562	blood:

Extended variants
information (count: 65 )
Associated
traits (count: 2 )

rSNPs within LD-proxies of this variant (count:63)

rs_ID	r²[population]
rs1007483	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10221504	1.00[AFR][1000 genomes];0.98[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs10405635	0.93[CEU][hapmap];0.85[CHB][hapmap];0.90[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs10409164	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10410451	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs10414676	1.00[CHB][hapmap];0.86[CHD][hapmap];0.89[JPT][hapmap];0.80[ASN][1000 genomes]
rs10416783	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs10417974	0.93[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.97[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs10421019	0.86[CEU][hapmap];0.87[TSI][hapmap];0.81[EUR][1000 genomes]
rs10422906	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs10423742	0.87[CEU][hapmap];0.85[CHB][hapmap];0.89[JPT][hapmap];0.95[TSI][hapmap];0.89[EUR][1000 genomes]
rs1079543	0.85[CHB][hapmap];0.89[JPT][hapmap]
rs10854005	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11666340	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11666627	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.81[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs11670204	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs11729	0.86[CEU][hapmap];0.80[GIH][hapmap];0.91[TSI][hapmap];0.84[EUR][1000 genomes]
rs12016	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12975676	0.81[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs12979565	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs12979841	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12985799	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs1859267	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2012318	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs2158320	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2240094	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs2269806	1.00[ASW][hapmap];1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs2285851	1.00[ASW][hapmap];0.93[CEU][hapmap];0.85[CHB][hapmap];0.97[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.89[MKK][hapmap];1.00[TSI][hapmap];0.80[AMR][1000 genomes]
rs2872394	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs3180770	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4808179	0.82[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs4808184	0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs4808895	0.86[CEU][hapmap]
rs4808906	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4808907	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4808911	0.89[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs4808913	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs4808916	1.00[CEU][hapmap];0.85[CHB][hapmap];0.86[JPT][hapmap];1.00[YRI][hapmap];0.93[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes]
rs4808923	0.86[CEU][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs4808924	0.80[ASN][1000 genomes]
rs6511010	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6511014	0.82[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap]
rs6511015	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6511017	0.85[AFR][1000 genomes];0.93[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6511018	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.81[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6511021	1.00[CHB][hapmap];0.80[ASN][1000 genomes]
rs7248651	0.92[EUR][1000 genomes];0.88[ASN][1000 genomes]
rs7250131	0.84[AMR][1000 genomes];0.95[EUR][1000 genomes]
rs7253244	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs7256648	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[JPT][hapmap];0.88[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs7257635	0.87[EUR][1000 genomes]
rs7259609	1.00[CEU][hapmap];0.85[CHB][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[TSI][hapmap];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes]
rs756791	0.83[EUR][1000 genomes]
rs756792	0.81[ASW][hapmap];0.92[CEU][hapmap];0.80[GIH][hapmap];0.87[TSI][hapmap];0.83[EUR][1000 genomes]
rs757220	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.89[MEX][hapmap];1.00[TSI][hapmap];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs757221	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8103431	0.90[AFR][1000 genomes];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs8104799	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs8107710	0.93[AMR][1000 genomes];0.90[EUR][1000 genomes]
rs8110629	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs8111634	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs929215	0.85[CHB][hapmap];1.00[JPT][hapmap]
rs9304959	0.80[AMR][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:2)

SNP	Gene	Cis/trans	Tissue	Source
rs7248399	ZNF14	cis	parietal	SCAN
rs7248399	SFRS14	Cis_1M	lymphoblastoid	RTeQTL

Chromatin state (count:82 , 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	chr19:19177200-19204800	Weak transcription	Fetal Intestine Large	intestine
10	chr19:19177200-19215400	Weak transcription	Colonic Mucosa	Colon
11	chr19:19178400-19204800	Weak transcription	HepG2	liver
12	chr19:19180200-19216000	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
13	chr19:19180400-19207200	Weak transcription	Brain Inferior Temporal Lobe	brain
14	chr19:19180400-19207800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
15	chr19:19180400-19208000	Weak transcription	Brain Angular Gyrus	brain
16	chr19:19180400-19208000	Weak transcription	Rectal Mucosa Donor 29	rectum
17	chr19:19180400-19208200	Weak transcription	Duodenum Smooth Muscle	Duodenum
18	chr19:19180400-19216400	Weak transcription	Colon Smooth Muscle	Colon
19	chr19:19180400-19219800	Weak transcription	HSMMtube	muscle
20	chr19:19180600-19208200	Weak transcription	Fetal Lung	lung
21	chr19:19180600-19213600	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
22	chr19:19180600-19245600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
23	chr19:19180600-19248400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
24	chr19:19185400-19208400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
25	chr19:19185400-19221200	Weak transcription	Primary hematopoietic stem cells	blood
26	chr19:19185600-19207200	Weak transcription	Duodenum Mucosa	Duodenum
27	chr19:19185600-19211400	Weak transcription	Pancreas	Pancrea
28	chr19:19186400-19206800	Weak transcription	Fetal Thymus	thymus
29	chr19:19186800-19207400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
30	chr19:19186800-19215200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
31	chr19:19187000-19205400	Weak transcription	Ovary	ovary
32	chr19:19187400-19207800	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
33	chr19:19188400-19204800	Weak transcription	Primary T helper cells fromperipheralblood	blood
34	chr19:19188400-19209800	Weak transcription	Primary T helper cells PMA-I stimulated	--
35	chr19:19189400-19207200	Weak transcription	Brain Anterior Caudate	brain
36	chr19:19189800-19202800	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
37	chr19:19191400-19205200	Weak transcription	Primary T cells fromperipheralblood	blood
38	chr19:19192800-19207800	Weak transcription	Adipose Nuclei	Adipose
39	chr19:19193000-19204800	Weak transcription	Gastric	stomach
40	chr19:19193000-19205400	Weak transcription	Placenta	Placenta
41	chr19:19194200-19214000	Weak transcription	K562	blood
42	chr19:19194400-19208000	Weak transcription	Left Ventricle	heart
43	chr19:19194600-19205400	Weak transcription	Fetal Muscle Leg	muscle
44	chr19:19194600-19206600	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr19:19194600-19206600	Weak transcription	Skeletal Muscle Female	skeletal muscle
46	chr19:19194600-19229400	Weak transcription	Dnd41	blood
47	chr19:19194800-19207800	Weak transcription	Right Ventricle	heart
48	chr19:19194800-19211400	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
49	chr19:19194800-19215400	Weak transcription	Placenta Amnion	Placenta Amnion
50	chr19:19195000-19207800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--

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