Variant report

Variant	rs1275746
Chromosome Location	chr14:70133145-70133146
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70131947..70135119-chr14:70167812..70170384,3	K562	blood:
2	chr14:70132759..70134809-chr14:70205522..70208289,2	MCF-7	breast:

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]
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]
rs6573900	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]
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
rs1275746	SLC8A3	cis	parietal	SCAN

Chromatin state (count:113 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70123200-70143800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:70123800-70137600	Weak transcription	Dnd41	blood
3	chr14:70125800-70133400	Weak transcription	HSMM	muscle
4	chr14:70125800-70133600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr14:70127200-70133200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:70127200-70139200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
7	chr14:70127400-70133400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr14:70127400-70133800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
9	chr14:70127400-70134200	Enhancers	Colon Smooth Muscle	Colon
10	chr14:70127400-70134200	Enhancers	Skeletal Muscle Male	skeletal muscle
11	chr14:70127400-70137200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr14:70127600-70134800	Enhancers	Skeletal Muscle Female	skeletal muscle
13	chr14:70127600-70135000	Enhancers	Adipose Nuclei	Adipose
14	chr14:70127600-70135000	Enhancers	Psoas Muscle	Psoas
15	chr14:70127800-70133600	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
16	chr14:70127800-70134000	Enhancers	Fetal Intestine Large	intestine
17	chr14:70128200-70133600	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
18	chr14:70128200-70140200	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
19	chr14:70128400-70133800	Enhancers	Primary T helper cells PMA-I stimulated	--
20	chr14:70128400-70136200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr14:70128400-70138000	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
22	chr14:70128400-70138000	Weak transcription	HUES6 Cell Line	embryonic stem cell
23	chr14:70128600-70133600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
24	chr14:70128600-70137800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
25	chr14:70129000-70134000	Enhancers	Liver	Liver
26	chr14:70129000-70137000	Enhancers	Small Intestine	intestine
27	chr14:70129200-70133800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
28	chr14:70129200-70135000	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
29	chr14:70129400-70133200	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
30	chr14:70129400-70134200	Enhancers	Breast Myoepithelial Primary Cells	Breast
31	chr14:70129400-70134800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr14:70129600-70134200	Enhancers	Fetal Heart	heart
33	chr14:70129800-70134000	Enhancers	K562	blood
34	chr14:70129800-70138200	Enhancers	Primary neutrophils fromperipheralblood	blood
35	chr14:70130000-70138000	Weak transcription	iPS-20b Cell Line	embryonic stem cell
36	chr14:70130000-70148800	Weak transcription	NHEK	skin
37	chr14:70130200-70133200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
38	chr14:70130200-70133600	Weak transcription	HMEC	breast
39	chr14:70130200-70135000	Enhancers	Fetal Muscle Leg	muscle
40	chr14:70130200-70135200	Enhancers	Right Atrium	heart
41	chr14:70130200-70136800	Weak transcription	Fetal Kidney	kidney
42	chr14:70130200-70149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
43	chr14:70130400-70133200	Weak transcription	Primary hematopoietic stem cells	blood
44	chr14:70130400-70133600	Strong transcription	Primary T cells from cord blood	blood
45	chr14:70130400-70136600	Enhancers	Primary B cells from peripheral blood	blood
46	chr14:70130400-70138200	Weak transcription	Cortex derived primary cultured neurospheres	brain
47	chr14:70130400-70139200	Weak transcription	Gastric	stomach
48	chr14:70130600-70133400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
49	chr14:70130600-70133400	Weak transcription	Hela-S3	cervix
50	chr14:70130600-70133600	Weak transcription	Primary T cells fromperipheralblood	blood

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