Variant report

Variant	rs1999722
Chromosome Location	chr14:70156668-70156669
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:70129166..70132900-chr14:70155782..70158446,3	K562	blood:
2	chr14:70078153..70079815-chr14:70156064..70158184,2	MCF-7	breast:
3	chr14:70155138..70156935-chr14:70161474..70163461,2	MCF-7	breast:
4	chr14:70130032..70132900-chr14:70156054..70158446,2	K562	blood:
5	chr14:70149467..70151102-chr14:70156172..70158882,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10149246	0.85[CHB][hapmap];0.87[CHD][hapmap];0.86[JPT][hapmap];0.89[TSI][hapmap];0.84[ASN][1000 genomes]
rs1275742	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.86[JPT][hapmap];0.87[LWK][hapmap];0.82[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs1275745	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];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1275746	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]
rs1275817	0.90[CEU][hapmap];0.92[CHB][hapmap];0.85[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs1275823	0.83[AFR][1000 genomes];0.81[ASN][1000 genomes]
rs1290041	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs1295826	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];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs1295827	0.92[JPT][hapmap];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs17107161	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.88[MEX][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[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];0.97[ASN][1000 genomes]
rs2210803	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.81[GIH][hapmap];1.00[JPT][hapmap];0.87[LWK][hapmap];0.86[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]
rs2332094	0.83[CHB][hapmap]
rs2766462	0.91[AFR][1000 genomes];0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs2766466	0.82[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs34686932	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[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];0.97[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];0.94[ASN][1000 genomes]
rs61980729	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs61980730	1.00[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6573900	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]
rs7143960	0.83[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];0.93[ASN][1000 genomes]
rs7157093	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.97[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];0.94[ASN][1000 genomes]
rs945309	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.90[CHD][hapmap];0.87[GIH][hapmap];0.92[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];0.95[ASN][1000 genomes]
rs945310	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];0.95[CHD][hapmap];0.87[GIH][hapmap];0.92[JPT][hapmap];0.87[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];0.95[ASN][1000 genomes]
rs945312	1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];0.97[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

No data

Chromatin state (count:99 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70148400-70156800	Enhancers	HepG2	liver
2	chr14:70150200-70161000	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
3	chr14:70150800-70159800	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
4	chr14:70151600-70157800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
5	chr14:70152200-70159800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
6	chr14:70152400-70159600	Weak transcription	Aorta	Aorta
7	chr14:70152400-70159800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
8	chr14:70152600-70159400	Weak transcription	Colonic Mucosa	Colon
9	chr14:70152600-70159800	Weak transcription	NHLF	lung
10	chr14:70152800-70156800	Weak transcription	Spleen	Spleen
11	chr14:70152800-70158000	Weak transcription	Gastric	stomach
12	chr14:70152800-70158800	Weak transcription	Duodenum Mucosa	Duodenum
13	chr14:70152800-70158800	Weak transcription	Rectal Mucosa Donor 29	rectum
14	chr14:70152800-70159400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr14:70152800-70159600	Weak transcription	Primary T killer memory cells from peripheral blood	blood
16	chr14:70152800-70159600	Weak transcription	Pancreas	Pancrea
17	chr14:70153000-70158800	Weak transcription	Liver	Liver
18	chr14:70153000-70158800	Weak transcription	Fetal Intestine Large	intestine
19	chr14:70153000-70158800	Weak transcription	Rectal Mucosa Donor 31	rectum
20	chr14:70153200-70157000	Weak transcription	Fetal Intestine Small	intestine
21	chr14:70153200-70159400	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
22	chr14:70153400-70157200	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
23	chr14:70153400-70157600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
24	chr14:70153400-70158800	Weak transcription	Sigmoid Colon	Sigmoid Colon
25	chr14:70153400-70159200	Weak transcription	Skeletal Muscle Male	skeletal muscle
26	chr14:70153400-70159400	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
27	chr14:70153400-70159400	Weak transcription	Stomach Smooth Muscle	stomach
28	chr14:70153400-70159600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
29	chr14:70153600-70156800	Weak transcription	Rectal Smooth Muscle	rectum
30	chr14:70153600-70158400	Weak transcription	Small Intestine	intestine
31	chr14:70153600-70159800	Weak transcription	Pancreatic Islets	Pancreatic Islet
32	chr14:70153600-70160400	Weak transcription	NHEK	skin
33	chr14:70153800-70160600	Weak transcription	HMEC	breast
34	chr14:70154200-70156800	Enhancers	Fetal Heart	heart
35	chr14:70154800-70157000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
36	chr14:70154800-70157800	Strong transcription	Primary B cells from peripheral blood	blood
37	chr14:70155000-70158200	Strong transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
38	chr14:70155000-70158400	Strong transcription	Primary B cells from cord blood	blood
39	chr14:70155200-70157000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr14:70155200-70157200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
41	chr14:70155200-70158000	Strong transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:70155200-70158200	Strong transcription	Primary monocytes fromperipheralblood	blood
43	chr14:70155200-70158800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
44	chr14:70155200-70159200	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
45	chr14:70155200-70160400	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
46	chr14:70155200-70161400	Weak transcription	H9 Cell Line	embryonic stem cell
47	chr14:70155200-70162000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
48	chr14:70155400-70158000	Strong transcription	Primary hematopoietic stem cells short term culture	blood
49	chr14:70155400-70158200	Weak transcription	Skeletal Muscle Female	skeletal muscle
50	chr14:70155400-70158800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--

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