Variant report

Variant	rs11848778
Chromosome Location	chr14:97039486-97039487
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	chr14:97032756..97036569-chr14:97036806..97040099,4	K562	blood:
2	chr14:97039485..97041409-chr14:97041476..97043217,2	K562	blood:

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:43)

rs_ID	r²[population]
rs10136266	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.80[YRI][hapmap];0.83[AFR][1000 genomes];0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10136277	0.95[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10139164	0.95[AMR][1000 genomes];0.90[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs10140247	0.81[AMR][1000 genomes];0.86[EUR][1000 genomes]
rs10143834	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.82[MEX][hapmap];0.97[MKK][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.91[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs10144704	0.87[AMR][1000 genomes];0.90[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs10145194	0.83[JPT][hapmap]
rs10467873	0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11160341	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11160344	0.91[AFR][1000 genomes];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11621566	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.92[MKK][hapmap];0.94[TSI][hapmap];0.83[YRI][hapmap];0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs11621778	0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs11623142	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11625090	0.86[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs11627288	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs11848720	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs12147439	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12147717	0.83[JPT][hapmap]
rs12586789	0.83[JPT][hapmap]
rs13329034	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.80[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13379390	0.88[ASW][hapmap];1.00[CEU][hapmap];0.91[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.85[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs1484251	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.95[MKK][hapmap];0.97[TSI][hapmap];0.86[YRI][hapmap];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs17094149	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.98[AMR][1000 genomes];0.94[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2274795	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28600893	0.83[JPT][hapmap];0.85[TSI][hapmap]
rs28718054	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.91[MEX][hapmap];0.92[MKK][hapmap];1.00[TSI][hapmap];0.93[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs28738720	0.85[EUR][1000 genomes]
rs2887550	0.82[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs3809425	0.83[JPT][hapmap]
rs4514608	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56184178	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs56960368	0.87[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs58112821	0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs60920648	0.86[EUR][1000 genomes]
rs61435932	0.82[AMR][1000 genomes];0.88[EUR][1000 genomes];0.80[ASN][1000 genomes]
rs61570427	0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs66881740	0.83[AMR][1000 genomes];0.88[EUR][1000 genomes]
rs7142226	0.83[JPT][hapmap]
rs7142806	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.82[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7146883	0.81[AFR][1000 genomes];0.95[AMR][1000 genomes];0.92[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7160148	0.81[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.94[TSI][hapmap];0.85[AMR][1000 genomes];0.90[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs8013517	0.88[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];0.93[GIH][hapmap];1.00[JPT][hapmap];0.81[LWK][hapmap];0.91[MEX][hapmap];0.97[MKK][hapmap];1.00[TSI][hapmap];0.83[YRI][hapmap];0.81[AFR][1000 genomes];0.98[AMR][1000 genomes];0.95[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs965950	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:6 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1042409	chr14:96832303-97115668	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
2	nsv542178	chr14:96832303-97115668	Active TSS Enhancers Strong transcription Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	52 gene(s)	inside rSNPs	diseases
3	nsv1048302	chr14:97000845-97250538	Bivalent/Poised TSS Enhancers Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	8 gene(s)	inside rSNPs	diseases
4	nsv1041078	chr14:97001679-97279220	Weak transcription Enhancers Strong transcription Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
5	nsv1050075	chr14:97004951-97279220	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Strong transcription Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
6	nsv977612	chr14:97037072-97040541	Enhancers Strong transcription Weak transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	diseases

No data

Chromatin state (count:116 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:96999400-97040600	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr14:97006400-97040400	Strong transcription	Monocytes-CD14+_RO01746	blood
3	chr14:97008600-97040200	Strong transcription	Fetal Thymus	thymus
4	chr14:97010200-97040200	Strong transcription	Primary B cells from cord blood	blood
5	chr14:97019600-97042800	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
6	chr14:97020200-97039600	Weak transcription	Gastric	stomach
7	chr14:97020200-97042600	Weak transcription	Esophagus	oesophagus
8	chr14:97020400-97040400	Weak transcription	Aorta	Aorta
9	chr14:97020400-97042800	Weak transcription	Spleen	Spleen
10	chr14:97020800-97040800	Weak transcription	Colonic Mucosa	Colon
11	chr14:97023200-97040400	Weak transcription	Cortex derived primary cultured neurospheres	brain
12	chr14:97023200-97046400	Weak transcription	K562	blood
13	chr14:97023600-97039800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
14	chr14:97023600-97039800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
15	chr14:97023600-97041600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
16	chr14:97023600-97043200	Weak transcription	Right Ventricle	heart
17	chr14:97023800-97040200	Weak transcription	Fetal Stomach	stomach
18	chr14:97023800-97040600	Weak transcription	Pancreas	Pancrea
19	chr14:97023800-97040800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
20	chr14:97023800-97042400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
21	chr14:97023800-97043200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
22	chr14:97023800-97044800	Weak transcription	Lung	lung
23	chr14:97023800-97045600	Weak transcription	Fetal Intestine Small	intestine
24	chr14:97023800-97048800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
25	chr14:97023800-97050200	Weak transcription	Brain Inferior Temporal Lobe	brain
26	chr14:97024000-97040600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
27	chr14:97024000-97040600	Weak transcription	Skeletal Muscle Male	skeletal muscle
28	chr14:97026200-97041000	Weak transcription	Brain Germinal Matrix	brain
29	chr14:97026800-97039600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
30	chr14:97027600-97040600	Weak transcription	HSMMtube	muscle
31	chr14:97030000-97040200	Weak transcription	Placenta Amnion	Placenta Amnion
32	chr14:97031200-97040400	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
33	chr14:97031600-97040000	Weak transcription	NHEK	skin
34	chr14:97031600-97042400	Weak transcription	Fetal Muscle Trunk	muscle
35	chr14:97032000-97039600	Weak transcription	H9 Cell Line	embryonic stem cell
36	chr14:97032000-97039600	Weak transcription	HepG2	liver
37	chr14:97032000-97040000	Weak transcription	NHLF	lung
38	chr14:97032000-97040800	Weak transcription	Brain Anterior Caudate	brain
39	chr14:97032200-97039800	Weak transcription	Fetal Kidney	kidney
40	chr14:97032200-97043000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
41	chr14:97032200-97047000	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
42	chr14:97032400-97039600	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
43	chr14:97032400-97040000	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
44	chr14:97032400-97040400	Weak transcription	Skeletal Muscle Female	skeletal muscle
45	chr14:97032400-97041800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr14:97032400-97042400	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
47	chr14:97032600-97040600	Weak transcription	Colon Smooth Muscle	Colon
48	chr14:97032600-97040600	Weak transcription	Ovary	ovary
49	chr14:97032600-97044200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
50	chr14:97032800-97040200	Weak transcription	HMEC	breast

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