Variant report

Variant	rs4905558
Chromosome Location	chr14:97345806-97345807
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr14:97326468..97328013-chr14:97344345..97345947,2	K562	blood:
2	chr14:97340745..97343409-chr14:97344880..97348129,4	K562	blood:

Variant related genes	Relation type
ENSG00000100749	Chromatin interaction

Extended variants
information (count: 67 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:64)

rs_ID	r²[population]
rs10131201	0.87[AFR][1000 genomes];0.98[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10131630	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs10145383	1.00[CEU][hapmap];0.89[CHB][hapmap];1.00[JPT][hapmap];0.86[YRI][hapmap];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10146571	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10149107	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs10873476	0.83[ASN][1000 genomes]
rs11160369	1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs11160371	0.92[ASN][1000 genomes]
rs11160375	0.83[ASN][1000 genomes]
rs11628733	0.87[JPT][hapmap];0.85[ASN][1000 genomes]
rs12433112	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.97[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs12434466	1.00[JPT][hapmap];0.90[ASN][1000 genomes]
rs12435963	0.91[ASN][1000 genomes]
rs12589919	0.81[CHB][hapmap]
rs12590723	0.91[ASN][1000 genomes]
rs12878184	0.81[CHB][hapmap];0.93[CHD][hapmap];1.00[JPT][hapmap];0.83[YRI][hapmap];0.95[ASN][1000 genomes]
rs12882853	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];0.92[YRI][hapmap];0.97[AMR][1000 genomes];0.98[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs12894621	0.81[CHB][hapmap];0.86[JPT][hapmap];0.86[ASN][1000 genomes]
rs12897588	0.81[CHB][hapmap]
rs12897731	0.90[AMR][1000 genomes];0.94[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1951311	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1951312	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs1957137	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs2145636	0.81[CHB][hapmap];0.86[JPT][hapmap];0.89[ASN][1000 genomes]
rs2180896	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs2224442	0.89[CHD][hapmap];1.00[JPT][hapmap];0.85[ASN][1000 genomes]
rs2230532	1.00[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];1.00[JPT][hapmap];0.98[TSI][hapmap];0.97[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs3825576	0.90[ASN][1000 genomes]
rs4270096	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4900346	0.81[CHB][hapmap]
rs4900347	0.84[AMR][1000 genomes];0.92[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4900349	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs4900350	0.88[CEU][hapmap];0.81[CHB][hapmap];0.84[ASN][1000 genomes]
rs4900351	1.00[CEU][hapmap];0.90[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.96[AFR][1000 genomes];0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4900353	0.90[CHB][hapmap]
rs4905546	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.93[ASN][1000 genomes]
rs4905547	0.96[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4905548	0.81[CHB][hapmap]
rs4905551	1.00[CHB][hapmap]
rs4905552	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4905553	0.98[AMR][1000 genomes];0.96[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4905555	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs4905557	1.00[CEU][hapmap];0.87[YRI][hapmap];0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs4905560	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.99[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs4905564	0.83[ASN][1000 genomes]
rs4905568	0.86[ASN][1000 genomes]
rs58514314	0.93[AMR][1000 genomes];0.99[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs61981027	0.99[ASN][1000 genomes]
rs67804110	0.86[ASN][1000 genomes]
rs67957817	0.87[ASN][1000 genomes]
rs7141028	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes]
rs71419296	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs7156355	1.00[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs722869	0.85[ASN][1000 genomes]
rs723810	1.00[ASW][hapmap];1.00[CEU][hapmap];0.81[CHB][hapmap];0.96[CHD][hapmap];0.95[GIH][hapmap];1.00[JPT][hapmap];0.83[LWK][hapmap];0.90[MKK][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];0.87[AFR][1000 genomes];0.94[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs736929	0.90[CHB][hapmap];0.88[CHD][hapmap];0.93[JPT][hapmap];0.89[TSI][hapmap];0.84[AMR][1000 genomes];0.99[ASN][1000 genomes]
rs749279	0.90[CHB][hapmap]
rs764300	0.81[CHB][hapmap]
rs8013081	0.95[CEU][hapmap];0.81[CHB][hapmap];1.00[JPT][hapmap];0.88[YRI][hapmap];0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs8016614	0.86[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9285600	0.92[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9323951	0.93[AMR][1000 genomes];0.96[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs9323954	0.85[AFR][1000 genomes];0.96[AMR][1000 genomes];0.97[EUR][1000 genomes];0.99[ASN][1000 genomes]
rs9323955	0.81[CHB][hapmap];0.89[CHD][hapmap];0.84[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:3 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1044202	chr14:97155291-97683983	Active TSS Enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
2	nsv542179	chr14:97155291-97683983	Weak transcription Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
3	nsv948620	chr14:97334444-98133191	Bivalent Enhancer Enhancers Weak transcription Flanking Active TSS Active TSS Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases

Variant related diseases (count:1)

Disease	PMID	Source
Neutrophil count	21507922	GWAS catalog

Chromatin state (count:72 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr14:97294000-97362600	Weak transcription	Spleen	Spleen
2	chr14:97297600-97353400	Weak transcription	Primary T killer memory cells from peripheral blood	blood
3	chr14:97298800-97348800	Strong transcription	Dnd41	blood
4	chr14:97298800-97350600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
5	chr14:97299400-97353600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr14:97303400-97371600	Weak transcription	Ovary	ovary
7	chr14:97308200-97348800	Weak transcription	Fetal Intestine Small	intestine
8	chr14:97314800-97347600	Weak transcription	Lung	lung
9	chr14:97314800-97355000	Weak transcription	Sigmoid Colon	Sigmoid Colon
10	chr14:97315600-97346600	Weak transcription	Fetal Muscle Trunk	muscle
11	chr14:97315600-97350400	Weak transcription	NHDF-Ad	bronchial
12	chr14:97322000-97348400	Weak transcription	HSMM	muscle
13	chr14:97322200-97354200	Weak transcription	Hela-S3	cervix
14	chr14:97323800-97354600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
15	chr14:97324000-97350800	Weak transcription	Duodenum Smooth Muscle	Duodenum
16	chr14:97324000-97352600	Weak transcription	HMEC	breast
17	chr14:97324200-97346400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
18	chr14:97324200-97348400	Weak transcription	Primary hematopoietic stem cells	blood
19	chr14:97324200-97350600	Weak transcription	Duodenum Mucosa	Duodenum
20	chr14:97324200-97354200	Weak transcription	H9 Cell Line	embryonic stem cell
21	chr14:97324400-97346000	Weak transcription	HepG2	liver
22	chr14:97324800-97346600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
23	chr14:97325200-97353800	Weak transcription	Fetal Lung	lung
24	chr14:97325200-97354600	Weak transcription	Thymus	Thymus
25	chr14:97325600-97362000	Weak transcription	Primary T cells fromperipheralblood	blood
26	chr14:97331000-97378400	Weak transcription	A549	lung
27	chr14:97331400-97347200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
28	chr14:97331800-97346600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
29	chr14:97333000-97348800	Weak transcription	Breast Myoepithelial Primary Cells	Breast
30	chr14:97337400-97354200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
31	chr14:97338400-97355200	Weak transcription	Psoas Muscle	Psoas
32	chr14:97338600-97348200	Weak transcription	Small Intestine	intestine
33	chr14:97340200-97350400	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
34	chr14:97340800-97346600	Weak transcription	Pancreas	Pancrea
35	chr14:97340800-97348200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
36	chr14:97340800-97348400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
37	chr14:97341000-97348000	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
38	chr14:97341000-97354200	Weak transcription	Cortex derived primary cultured neurospheres	brain
39	chr14:97341400-97357400	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr14:97342400-97347200	Weak transcription	Stomach Smooth Muscle	stomach
41	chr14:97342400-97349200	Strong transcription	Primary monocytes fromperipheralblood	blood
42	chr14:97342800-97347800	Weak transcription	Adipose Nuclei	Adipose
43	chr14:97342800-97348600	Weak transcription	Primary B cells from peripheral blood	blood
44	chr14:97342800-97354200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
45	chr14:97342800-97367000	Weak transcription	NHEK	skin
46	chr14:97343000-97350400	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
47	chr14:97343000-97350800	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
48	chr14:97343200-97347200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
49	chr14:97343200-97354600	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr14:97343400-97346600	Weak transcription	Primary B cells from cord blood	blood

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