Variant report

Variant	rs1743379
Chromosome Location	chr14:70140970-70140971
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:70124277..70126417-chr14:70138561..70141112,2	MCF-7	breast:
2	chr14:70136257..70137815-chr14:70139917..70141830,2	K562	blood:

Variant related genes	Relation type
ENSG00000100647	Chromatin interaction

Extended variants
information (count: 34 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs10149246	0.85[CHB][hapmap];0.86[JPT][hapmap];0.81[ASN][1000 genomes]
rs1275742	0.83[CEU][hapmap];1.00[CHB][hapmap];0.86[JPT][hapmap];0.82[AMR][1000 genomes];0.95[ASN][1000 genomes]
rs1275745	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];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1275746	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]
rs1275817	0.91[CEU][hapmap];0.92[CHB][hapmap];0.86[JPT][hapmap];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs1275823	0.91[AFR][1000 genomes];0.83[ASN][1000 genomes]
rs1290041	1.00[AFR][1000 genomes];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs1295826	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1295827	0.93[JPT][hapmap];0.82[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs17107161	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs1999722	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[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]
rs2332094	0.83[CHB][hapmap]
rs2766462	1.00[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	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs4899304	0.81[JPT][hapmap]
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	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs61980729	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs61980730	0.91[AFR][1000 genomes];0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs6573900	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]
rs7143960	0.83[CEU][hapmap];1.00[CHB][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[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs945310	1.00[CEU][hapmap];1.00[CHB][hapmap];0.92[JPT][hapmap];1.00[YRI][hapmap];0.91[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

No data

Chromatin state (count:98 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:70123200-70143800	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
2	chr14:70130000-70148800	Weak transcription	NHEK	skin
3	chr14:70130200-70149000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
4	chr14:70133600-70143400	Enhancers	Fetal Thymus	thymus
5	chr14:70133800-70144800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
6	chr14:70133800-70148800	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
7	chr14:70134000-70152400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
8	chr14:70134800-70143600	Enhancers	Primary T helper naive cells from peripheral blood	blood
9	chr14:70134800-70143600	Enhancers	Primary T helper naive cells fromperipheralblood	blood
10	chr14:70135000-70143800	Enhancers	Primary T helper cells fromperipheralblood	blood
11	chr14:70135800-70142800	Enhancers	Right Ventricle	heart
12	chr14:70136000-70143000	Enhancers	Primary T killer naive cells fromperipheralblood	blood
13	chr14:70136000-70143800	Enhancers	Primary T killer memory cells from peripheral blood	blood
14	chr14:70136000-70144000	Enhancers	Psoas Muscle	Psoas
15	chr14:70136200-70143000	Enhancers	Brain Hippocampus Middle	brain
16	chr14:70136200-70143800	Enhancers	Left Ventricle	heart
17	chr14:70136400-70142200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
18	chr14:70136400-70142400	Enhancers	Brain Anterior Caudate	brain
19	chr14:70136600-70143000	Enhancers	Pancreas	Pancrea
20	chr14:70136600-70143000	Enhancers	Right Atrium	heart
21	chr14:70137200-70141200	Enhancers	Primary monocytes fromperipheralblood	blood
22	chr14:70137200-70148800	Weak transcription	K562	blood
23	chr14:70137400-70141800	Enhancers	Breast Myoepithelial Primary Cells	Breast
24	chr14:70137400-70142600	Enhancers	Fetal Muscle Leg	muscle
25	chr14:70137600-70142200	Enhancers	Fetal Heart	heart
26	chr14:70137600-70143000	Enhancers	Primary B cells from peripheral blood	blood
27	chr14:70137600-70143400	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
28	chr14:70138000-70143800	Enhancers	Primary T cells fromperipheralblood	blood
29	chr14:70138200-70141200	Enhancers	Monocytes-CD14+_RO01746	blood
30	chr14:70138200-70142200	Enhancers	Brain Substantia Nigra	brain
31	chr14:70138200-70143000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
32	chr14:70138200-70149000	Weak transcription	HMEC	breast
33	chr14:70138400-70141400	Genic enhancers	Fetal Intestine Small	intestine
34	chr14:70138600-70142200	Enhancers	Liver	Liver
35	chr14:70138600-70143000	Enhancers	Primary T cells effector/memory enriched fromperipheralblood	blood
36	chr14:70138600-70143400	Enhancers	Primary T cells from cord blood	blood
37	chr14:70138600-70147600	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
38	chr14:70138800-70141200	Enhancers	Primary neutrophils fromperipheralblood	blood
39	chr14:70138800-70141600	Enhancers	Rectal Mucosa Donor 31	rectum
40	chr14:70138800-70143000	Enhancers	Small Intestine	intestine
41	chr14:70139000-70141200	Enhancers	Esophagus	oesophagus
42	chr14:70139000-70141600	Enhancers	Spleen	Spleen
43	chr14:70139000-70142200	Enhancers	Stomach Mucosa	stomach
44	chr14:70139000-70142800	Enhancers	Brain Angular Gyrus	brain
45	chr14:70139000-70143000	Enhancers	Primary hematopoietic stem cells	blood
46	chr14:70139200-70141400	Enhancers	HepG2	liver
47	chr14:70139200-70141600	Enhancers	Gastric	stomach
48	chr14:70139200-70141600	Enhancers	Ovary	ovary
49	chr14:70139200-70142400	Enhancers	Sigmoid Colon	Sigmoid Colon
50	chr14:70139200-70142800	Enhancers	Lung	lung

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