Variant report

Variant	rs34598003
Chromosome Location	chr4:7855824-7855825
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr4:7847678..7850223-chr4:7853513..7856293,3	K562	blood:
2	chr4:7848719..7850223-chr4:7854337..7856293,2	K562	blood:

Extended variants
information (count: 111 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:106)

rs_ID	r²[population]
rs10049998	0.89[ASN][1000 genomes]
rs11932843	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13115701	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13131154	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13137140	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13140004	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs13145572	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13146302	0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs13147998	0.99[ASN][1000 genomes]
rs1320073	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs13435273	0.89[ASN][1000 genomes]
rs17770147	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs17770177	0.89[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28376459	0.83[ASN][1000 genomes]
rs28394221	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28488140	0.83[ASN][1000 genomes]
rs28492032	0.92[AMR][1000 genomes]
rs28504337	0.83[ASN][1000 genomes]
rs28539821	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28546404	0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28605531	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28613311	0.96[ASN][1000 genomes]
rs28626087	0.81[AMR][1000 genomes]
rs28631977	0.95[AFR][1000 genomes];0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28673208	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28688265	0.92[AMR][1000 genomes];0.94[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs28738908	0.83[ASN][1000 genomes]
rs28754920	0.92[AMR][1000 genomes];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs2891927	0.89[ASN][1000 genomes]
rs34072304	0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34075381	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34092549	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34119140	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34121576	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34132874	0.91[AFR][1000 genomes];0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34181918	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34189407	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34221000	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34383852	0.92[AMR][1000 genomes];0.95[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34392913	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34570748	1.00[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34652148	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34712341	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34868842	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs34869495	0.85[AMR][1000 genomes];0.81[EUR][1000 genomes];0.83[ASN][1000 genomes]
rs34909423	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.80[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs34982807	1.00[AFR][1000 genomes];0.83[AMR][1000 genomes];0.84[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs35114566	0.86[AMR][1000 genomes];0.84[ASN][1000 genomes]
rs35138920	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35152796	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35154266	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35238070	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35349192	0.86[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35502845	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35727635	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35735994	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35881667	0.96[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs35905776	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs35933973	0.84[AFR][1000 genomes];0.96[AMR][1000 genomes];0.95[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs35967175	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36013696	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs36046241	0.86[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs36106793	0.92[AMR][1000 genomes];0.92[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs3934540	0.80[ASN][1000 genomes]
rs4234831	0.80[ASN][1000 genomes]
rs4256209	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4296663	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4361385	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs4411970	0.85[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4443285	0.80[ASN][1000 genomes]
rs4447865	0.80[ASN][1000 genomes]
rs4487321	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs4689875	0.80[ASN][1000 genomes]
rs4696742	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4696747	0.89[AMR][1000 genomes];0.93[ASN][1000 genomes]
rs4696762	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs4696772	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs61292547	0.83[ASN][1000 genomes]
rs62289341	0.91[ASN][1000 genomes]
rs62289351	0.91[ASN][1000 genomes]
rs6446624	0.80[ASN][1000 genomes]
rs6446625	0.80[ASN][1000 genomes]
rs6446627	0.83[ASN][1000 genomes]
rs6446629	0.83[ASN][1000 genomes]
rs6824266	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6826598	0.85[AMR][1000 genomes];0.90[ASN][1000 genomes]
rs6828574	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6829505	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6832352	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6833054	0.89[AMR][1000 genomes];0.91[ASN][1000 genomes]
rs6837845	0.82[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6838055	0.85[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs6845014	0.92[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs6855982	0.89[AMR][1000 genomes];0.94[ASN][1000 genomes]
rs71600561	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs71601887	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71601888	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71601889	0.92[AMR][1000 genomes];0.93[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71601890	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs71601892	0.92[AMR][1000 genomes];0.91[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7660568	0.96[AMR][1000 genomes];0.84[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7682202	0.80[ASN][1000 genomes]
rs7682611	0.83[ASN][1000 genomes]
rs7691386	0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs7694106	0.89[AMR][1000 genomes];0.89[ASN][1000 genomes]
rs7697255	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];0.82[EUR][1000 genomes];0.94[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:5 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv491712	chr4:7582506-8155069	Enhancers Bivalent Enhancer Genic enhancers Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
2	esv34140	chr4:7787936-8172491	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	18 gene(s)	inside rSNPs	diseases
3	esv2754386	chr4:7822449-7992909	Weak transcription Enhancers Active TSS Genic enhancers Strong transcription Flanking Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
4	esv2756298	chr4:7822449-7992909	Enhancers Bivalent Enhancer Flanking Active TSS Weak transcription Genic enhancers Active TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	6 gene(s)	inside rSNPs	diseases
5	nsv878578	chr4:7841833-7969594	Enhancers Flanking Active TSS Genic enhancers Weak transcription ZNF genes & repeats Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:110 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:7821200-7859000	Weak transcription	Aorta	Aorta
2	chr4:7830400-7862600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:7830600-7856200	Weak transcription	HUES48 Cell Line	embryonic stem cell
4	chr4:7830600-7857200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
5	chr4:7830600-7862200	Weak transcription	H9 Cell Line	embryonic stem cell
6	chr4:7830600-7862400	Weak transcription	iPS-15b Cell Line	embryonic stem cell
7	chr4:7843600-7863000	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
8	chr4:7845000-7856400	Weak transcription	HUES64 Cell Line	embryonic stem cell
9	chr4:7845000-7858600	Genic enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
10	chr4:7845000-7863200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
11	chr4:7845200-7859000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
12	chr4:7846200-7860200	Weak transcription	Small Intestine	intestine
13	chr4:7846400-7857200	Weak transcription	Left Ventricle	heart
14	chr4:7846800-7858400	Weak transcription	Fetal Heart	heart
15	chr4:7847600-7858400	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
16	chr4:7848000-7857000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
17	chr4:7848000-7857400	Weak transcription	H1 Cell Line	embryonic stem cell
18	chr4:7848000-7857400	Weak transcription	Placenta Amnion	Placenta Amnion
19	chr4:7848000-7872200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
20	chr4:7848200-7862000	Weak transcription	iPS-18 Cell Line	embryonic stem cell
21	chr4:7848400-7858200	Weak transcription	Fetal Brain Male	brain
22	chr4:7848600-7856800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:7849200-7857000	Strong transcription	Foreskin Fibroblast Primary Cells skin02	Skin
24	chr4:7849400-7857600	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
25	chr4:7850000-7857800	Strong transcription	Fetal Intestine Small	intestine
26	chr4:7850200-7857000	Strong transcription	Muscle Satellite Cultured Cells	--
27	chr4:7850400-7857800	Strong transcription	Fetal Intestine Large	intestine
28	chr4:7850400-7858400	Weak transcription	Right Ventricle	heart
29	chr4:7850600-7857400	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
30	chr4:7850800-7856000	Enhancers	Primary T helper naive cells fromperipheralblood	blood
31	chr4:7850800-7857000	Strong transcription	ES-I3 Cell Line	embryonic stem cell
32	chr4:7850800-7857400	Strong transcription	HUES6 Cell Line	embryonic stem cell
33	chr4:7851200-7857400	Strong transcription	NHLF	lung
34	chr4:7851400-7857400	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
35	chr4:7851600-7856000	Enhancers	Primary T helper memory cells from peripheral blood 2	blood
36	chr4:7851600-7856200	Enhancers	Primary T helper cells PMA-I stimulated	--
37	chr4:7851600-7857200	Strong transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
38	chr4:7851800-7856200	Strong transcription	Stomach Smooth Muscle	stomach
39	chr4:7851800-7860400	Enhancers	Primary T helper cells fromperipheralblood	blood
40	chr4:7852000-7856600	Enhancers	Primary T cells fromperipheralblood	blood
41	chr4:7852000-7860400	Enhancers	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:7852200-7857200	Genic enhancers	Breast Myoepithelial Primary Cells	Breast
43	chr4:7852200-7857200	Strong transcription	Placenta	Placenta
44	chr4:7852200-7857800	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
45	chr4:7852400-7857000	Enhancers	Primary T helper naive cells from peripheral blood	blood
46	chr4:7852400-7857200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
47	chr4:7852400-7857400	Strong transcription	Ovary	ovary
48	chr4:7852400-7857800	Strong transcription	Fetal Stomach	stomach
49	chr4:7852600-7856600	Weak transcription	Fetal Brain Female	brain
50	chr4:7852600-7873600	Weak transcription	Pancreatic Islets	Pancreatic Islet

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