Variant report

Variant	rs6573900
Chromosome Location	chr14:70149434-70149435
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70141485..70143505-chr14:70148882..70151101,2	K562	blood:
2	chr14:70148349..70149989-chr14:70151546..70154474,2	K562	blood:
3	chr14:70147594..70149514-chr14:70163354..70164998,2	K562	blood:

Extended variants
information (count: 33 )
Associated
traits (count: 1 )

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

rs_ID	r²[population]
rs10149246	0.85[CHB][hapmap];0.91[CHD][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap];0.81[ASN][1000 genomes]
rs1275742	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.87[LWK][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1275745	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][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]
rs1275746	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275817	0.90[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1275823	0.83[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1290041	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1295826	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1295827	0.92[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17107161	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1743379	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1999722	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs2210803	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2332094	0.83[CHB][hapmap]
rs2766462	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs2766466	0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34686932	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4902745	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55780993	0.86[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs60716885	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61980729	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61980730	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs7143960	0.83[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs7157093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs8006991	0.83[CHB][hapmap]
rs945308	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.93[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs945309	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs945310	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.92[JPT][hapmap];0.87[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs945312	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:4 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1049280	chr14:70036804-70172630	Weak transcription Enhancers Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv542124	chr14:70036804-70172630	Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Active TSS Genic enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
3	nsv456336	chr14:70081956-70574149	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases
4	nsv565007	chr14:70081956-70574149	Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Enhancers Strong transcription Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	75 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs6573900	SLC8A3	cis	parietal	SCAN

Chromatin state (count:92 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70134000-70152400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
2	chr14:70139800-70152000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr14:70140000-70149800	Weak transcription	Placenta	Placenta
4	chr14:70140600-70152200	Weak transcription	NHLF	lung
5	chr14:70141000-70149800	Weak transcription	Fetal Muscle Trunk	muscle
6	chr14:70141000-70150800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr14:70141400-70149800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
8	chr14:70141600-70149800	Weak transcription	Gastric	stomach
9	chr14:70141800-70152400	Weak transcription	Fetal Kidney	kidney
10	chr14:70142800-70149800	Weak transcription	Thymus	Thymus
11	chr14:70144400-70151400	Weak transcription	Fetal Intestine Small	intestine
12	chr14:70146600-70151400	Enhancers	Primary T helper cells PMA-I stimulated	--
13	chr14:70146600-70153200	Enhancers	Colon Smooth Muscle	Colon
14	chr14:70146800-70150600	Enhancers	Primary T helper 17 cells PMA-I stimulated	--
15	chr14:70146800-70151000	Enhancers	Primary hematopoietic stem cells	blood
16	chr14:70146800-70152400	Enhancers	Breast Myoepithelial Primary Cells	Breast
17	chr14:70146800-70153200	Enhancers	Duodenum Smooth Muscle	Duodenum
18	chr14:70146800-70153600	Enhancers	Fetal Muscle Leg	muscle
19	chr14:70146800-70153800	Enhancers	Brain Anterior Caudate	brain
20	chr14:70146800-70155600	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
21	chr14:70147000-70150600	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
22	chr14:70147000-70152800	Enhancers	Primary B cells from peripheral blood	blood
23	chr14:70147000-70153000	Enhancers	Primary T helper cells fromperipheralblood	blood
24	chr14:70147000-70153200	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
25	chr14:70147200-70149800	Weak transcription	Lung	lung
26	chr14:70147200-70152800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Female	--
27	chr14:70147200-70152800	Enhancers	Primary hematopoietic stem cells G-CSF-mobilized Male	--
28	chr14:70147400-70149800	Weak transcription	Ovary	ovary
29	chr14:70147400-70151800	Enhancers	Primary T regulatory cells fromperipheralblood	blood
30	chr14:70147600-70151400	Weak transcription	Aorta	Aorta
31	chr14:70147600-70152200	Enhancers	Primary monocytes fromperipheralblood	blood
32	chr14:70148200-70152800	Enhancers	Left Ventricle	heart
33	chr14:70148200-70152800	Enhancers	Spleen	Spleen
34	chr14:70148200-70153000	Enhancers	Primary T helper naive cells from peripheral blood	blood
35	chr14:70148400-70150200	Enhancers	Fetal Lung	lung
36	chr14:70148400-70152400	Enhancers	Primary T killer naive cells fromperipheralblood	blood
37	chr14:70148400-70152800	Enhancers	Primary T killer memory cells from peripheral blood	blood
38	chr14:70148400-70156800	Enhancers	HepG2	liver
39	chr14:70148600-70151000	Enhancers	Primary T cells from cord blood	blood
40	chr14:70148600-70152200	Enhancers	Primary hematopoietic stem cells short term culture	blood
41	chr14:70148600-70152600	Enhancers	Stomach Mucosa	stomach
42	chr14:70148600-70153000	Enhancers	Primary T cells fromperipheralblood	blood
43	chr14:70148600-70153000	Enhancers	Psoas Muscle	Psoas
44	chr14:70148600-70153000	Enhancers	Skeletal Muscle Female	skeletal muscle
45	chr14:70148600-70155800	Enhancers	Fetal Thymus	thymus
46	chr14:70148800-70149600	Flanking Active TSS	Primary B cells from cord blood	blood
47	chr14:70148800-70149800	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
48	chr14:70148800-70150200	Flanking Active TSS	Primary neutrophils fromperipheralblood	blood
49	chr14:70148800-70150200	Enhancers	Cortex derived primary cultured neurospheres	brain
50	chr14:70148800-70150600	Enhancers	K562	blood

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