Variant report

Variant	rs4981801
Chromosome Location	chr14:31392200-31392201
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr14:31385492..31389361-chr14:31390065..31392327,4	K562	blood:
2	chr14:31390350..31392275-chr14:31395263..31396767,2	K562	blood:
3	chr14:31385237..31388114-chr14:31390780..31394488,3	MCF-7	breast:

Extended variants
information (count: 43 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs10129393	1.00[CHB][hapmap];0.91[ASN][1000 genomes]
rs10150991	0.93[ASN][1000 genomes]
rs10483354	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.94[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs1474800	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs17097598	1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs179729	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs179732	1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs1955562	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1955563	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];0.95[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1955566	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs2179932	1.00[CHB][hapmap];0.86[ASN][1000 genomes]
rs2750114	1.00[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs3736743	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.88[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3742920	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.84[AFR][1000 genomes];0.93[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs4981083	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][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]
rs61116407	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs7142286	1.00[CEU][hapmap];0.95[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7153166	1.00[CHB][hapmap];0.95[ASN][1000 genomes]
rs7158412	1.00[AFR][1000 genomes];1.00[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs7158988	0.84[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs73256099	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs73257912	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73260377	0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs74040963	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs8008339	0.89[AFR][1000 genomes];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8010398	1.00[CHB][hapmap];0.82[ASN][1000 genomes]
rs8010967	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];0.89[YRI][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs8020369	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[EUR][1000 genomes];0.85[ASN][1000 genomes]
rs9322868	0.84[CHB][hapmap];0.84[ASN][1000 genomes]
rs9635154	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:13 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv564169	chr14:30819087-31541494	Strong transcription Genic enhancers ZNF genes & repeats Enhancers Weak transcription Active TSS Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
2	nsv901581	chr14:30978745-31585289	Strong transcription Weak transcription Enhancers Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	50 gene(s)	inside rSNPs	diseases
3	nsv832762	chr14:31238634-31414038	Strong transcription Bivalent Enhancer Enhancers Bivalent/Poised TSS Weak transcription Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
4	nsv564173	chr14:31358377-31400682	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv901584	chr14:31358377-31409010	Strong transcription Weak transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
6	nsv564174	chr14:31365884-31400682	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
7	nsv564175	chr14:31365884-31409010	Strong transcription Weak transcription Genic enhancers Enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
8	nsv564176	chr14:31365884-31413492	Weak transcription Strong transcription Enhancers Genic enhancers Flanking Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	4 gene(s)	inside rSNPs	diseases
9	nsv901585	chr14:31365884-31433473	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	5 gene(s)	inside rSNPs	diseases
10	nsv901586	chr14:31365884-31465241	Strong transcription Weak transcription Enhancers Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Active TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
11	nsv564177	chr14:31381351-31425437	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases
12	nsv456197	chr14:31386426-31417816	Weak transcription Strong transcription Enhancers Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases
13	nsv564178	chr14:31386426-31417816	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region	1 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:120 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:31345000-31435400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
2	chr14:31347000-31394800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
3	chr14:31355800-31414400	Weak transcription	Spleen	Spleen
4	chr14:31356200-31412800	Weak transcription	Primary T killer memory cells from peripheral blood	blood
5	chr14:31358000-31428200	Weak transcription	Small Intestine	intestine
6	chr14:31360200-31435600	Weak transcription	Gastric	stomach
7	chr14:31361800-31394200	Weak transcription	Fetal Brain Male	brain
8	chr14:31362200-31414400	Weak transcription	Primary T helper naive cells from peripheral blood	blood
9	chr14:31362400-31435400	Weak transcription	Colonic Mucosa	Colon
10	chr14:31363000-31394400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
11	chr14:31363000-31430600	Weak transcription	Brain Angular Gyrus	brain
12	chr14:31363000-31435200	Weak transcription	Esophagus	oesophagus
13	chr14:31364400-31415400	Weak transcription	H9 Cell Line	embryonic stem cell
14	chr14:31364800-31393200	Weak transcription	Brain Substantia Nigra	brain
15	chr14:31365800-31402200	Weak transcription	Thymus	Thymus
16	chr14:31365800-31414200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
17	chr14:31365800-31435600	Weak transcription	Right Ventricle	heart
18	chr14:31370000-31393600	Weak transcription	Lung	lung
19	chr14:31370000-31414400	Weak transcription	Pancreas	Pancrea
20	chr14:31372400-31414400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
21	chr14:31376200-31403000	Weak transcription	Hela-S3	cervix
22	chr14:31377800-31435600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
23	chr14:31378000-31414400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
24	chr14:31378000-31439000	Weak transcription	Psoas Muscle	Psoas
25	chr14:31378800-31435200	Weak transcription	Aorta	Aorta
26	chr14:31378800-31435400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
27	chr14:31379000-31393600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
28	chr14:31379000-31393600	Weak transcription	Fetal Intestine Small	intestine
29	chr14:31379000-31413800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
30	chr14:31379400-31404200	Weak transcription	H1 Cell Line	embryonic stem cell
31	chr14:31379600-31402800	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
32	chr14:31379600-31403400	Weak transcription	Cortex derived primary cultured neurospheres	brain
33	chr14:31379600-31404000	Weak transcription	Colon Smooth Muscle	Colon
34	chr14:31379600-31405000	Weak transcription	Skeletal Muscle Male	skeletal muscle
35	chr14:31379800-31403600	Weak transcription	Fetal Heart	heart
36	chr14:31379800-31412400	Weak transcription	Brain Hippocampus Middle	brain
37	chr14:31380400-31415400	Weak transcription	Brain Germinal Matrix	brain
38	chr14:31380600-31402600	Weak transcription	HMEC	breast
39	chr14:31380800-31403200	Weak transcription	Fetal Muscle Leg	muscle
40	chr14:31380800-31405800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
41	chr14:31381200-31393800	Weak transcription	Fetal Lung	lung
42	chr14:31381200-31414400	Weak transcription	Fetal Brain Female	brain
43	chr14:31381400-31392200	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
44	chr14:31381400-31393800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
45	chr14:31381400-31393800	Weak transcription	Fetal Kidney	kidney
46	chr14:31381400-31402200	Weak transcription	Duodenum Mucosa	Duodenum
47	chr14:31381400-31402200	Weak transcription	Fetal Thymus	thymus
48	chr14:31381400-31402200	Weak transcription	Left Ventricle	heart
49	chr14:31381400-31402200	Weak transcription	Ovary	ovary
50	chr14:31381400-31403200	Weak transcription	Primary T cells from cord blood	blood

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