Variant report

Variant	rs4864608
Chromosome Location	chr4:57798610-57798611
allele	A/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:57785111..57787952-chr4:57797814..57799523,2	K562	blood:
2	chr4:57776722..57778333-chr4:57797870..57799629,2	K562	blood:
3	chr4:57797516..57799149-chr4:57818426..57821000,2	K562	blood:

Variant related genes	Relation type
ENSG00000084093	Chromatin interaction

Extended variants
information (count: 98 )
Associated
traits (count: 1 )

rSNPs within LD-proxies of this variant (count:94)

rs_ID	r²[population]
rs10008356	0.83[ASN][1000 genomes]
rs10030913	0.91[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10866440	0.96[AMR][1000 genomes];0.91[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs10866441	0.83[AFR][1000 genomes];0.87[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs1105434	0.93[AFR][1000 genomes];0.99[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11729152	0.82[ASN][1000 genomes]
rs11730321	0.81[ASN][1000 genomes]
rs11730476	0.81[ASN][1000 genomes]
rs11730525	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs11734953	0.94[AMR][1000 genomes];0.83[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs11736192	0.82[ASN][1000 genomes]
rs11736808	0.86[ASN][1000 genomes]
rs11736869	0.94[AMR][1000 genomes];0.94[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs11736965	0.93[AFR][1000 genomes];0.96[AMR][1000 genomes];0.94[EUR][1000 genomes];0.97[ASN][1000 genomes]
rs11737689	0.87[AFR][1000 genomes];0.89[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs11932673	0.80[ASN][1000 genomes]
rs11933908	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs12500454	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12501224	0.83[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs12501990	0.84[AFR][1000 genomes];0.97[AMR][1000 genomes];0.99[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12502076	0.89[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13108245	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13113802	0.94[AMR][1000 genomes];0.91[EUR][1000 genomes];0.91[ASN][1000 genomes]
rs13116564	0.87[ASN][1000 genomes]
rs13119525	0.86[AMR][1000 genomes];0.96[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13123018	0.86[EUR][1000 genomes]
rs13131605	0.81[AFR][1000 genomes];0.84[AMR][1000 genomes];0.88[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs13136432	0.82[AFR][1000 genomes];0.88[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13146539	0.80[ASN][1000 genomes]
rs13146960	0.96[AMR][1000 genomes];0.89[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs13149162	0.94[AMR][1000 genomes];0.88[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs13150593	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13152476	0.87[AMR][1000 genomes];0.95[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs13353552	0.87[ASN][1000 genomes]
rs17087307	0.80[ASN][1000 genomes]
rs17087317	0.80[ASN][1000 genomes]
rs1877669	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs1963666	0.83[AFR][1000 genomes];0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs1976780	0.80[ASN][1000 genomes]
rs2002153	0.84[ASN][1000 genomes]
rs2014870	0.82[AMR][1000 genomes];0.96[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs2090962	0.86[AMR][1000 genomes];0.84[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs2228991	0.89[ASN][1000 genomes]
rs2412772	0.89[EUR][1000 genomes]
rs3000	0.92[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs34124552	0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34448457	0.82[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs34659774	0.80[ASN][1000 genomes]
rs35267092	0.84[AFR][1000 genomes];0.89[AMR][1000 genomes];0.98[EUR][1000 genomes];0.96[ASN][1000 genomes]
rs3796528	0.89[ASN][1000 genomes]
rs3806745	0.80[ASN][1000 genomes]
rs4276341	0.87[ASN][1000 genomes]
rs4864606	0.90[ASN][1000 genomes]
rs4864607	0.90[AMR][1000 genomes];0.90[EUR][1000 genomes];0.89[ASN][1000 genomes]
rs4865156	0.81[ASN][1000 genomes]
rs4865157	0.83[ASN][1000 genomes]
rs4865158	0.82[ASN][1000 genomes]
rs4865159	0.84[ASN][1000 genomes]
rs4865160	0.84[ASN][1000 genomes]
rs55822707	0.88[ASN][1000 genomes]
rs56122758	0.81[ASN][1000 genomes]
rs62308110	0.81[ASN][1000 genomes]
rs62308111	0.81[ASN][1000 genomes]
rs62308135	0.90[ASN][1000 genomes]
rs62308136	0.90[ASN][1000 genomes]
rs62308137	0.89[ASN][1000 genomes]
rs62308155	0.87[AMR][1000 genomes];0.97[EUR][1000 genomes];0.95[ASN][1000 genomes]
rs6554393	0.83[ASN][1000 genomes]
rs6554394	0.83[ASN][1000 genomes]
rs6554397	0.96[AMR][1000 genomes];0.86[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6554398	0.96[AMR][1000 genomes];0.92[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs6554399	0.89[ASN][1000 genomes]
rs6816950	0.81[ASN][1000 genomes]
rs6838948	0.96[AMR][1000 genomes];0.90[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6840805	0.81[ASN][1000 genomes]
rs6852110	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6854420	0.92[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs6855212	0.86[AMR][1000 genomes];0.85[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6858216	0.81[ASN][1000 genomes]
rs729844	0.87[ASN][1000 genomes]
rs73242609	0.90[ASN][1000 genomes]
rs73242616	0.87[ASN][1000 genomes]
rs7666804	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7667302	0.86[AMR][1000 genomes];0.82[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs7667744	0.80[EUR][1000 genomes]
rs7680734	0.98[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7685576	0.87[ASN][1000 genomes]
rs7695970	0.96[AMR][1000 genomes];0.88[EUR][1000 genomes];0.90[ASN][1000 genomes]
rs781669	0.85[ASN][1000 genomes]
rs899630	0.80[EUR][1000 genomes]
rs899631	0.80[EUR][1000 genomes]
rs899632	0.86[AMR][1000 genomes];0.81[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs9684742	0.87[ASN][1000 genomes]
rs9942208	0.80[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	nsv868815	chr4:57114268-58084688	Weak transcription Bivalent Enhancer Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
2	nsv1012287	chr4:57652778-57853485	Enhancers Strong transcription Active TSS Flanking Active TSS Weak transcription Genic enhancers 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 target site	26 gene(s)	inside rSNPs	diseases
3	nsv1012125	chr4:57668229-57865803	Weak transcription Strong transcription Flanking Active TSS Enhancers Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	esv3425352	chr4:57783591-57820951	Strong transcription Weak transcription Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	Chromatin interactive region lncRNA miRNA target site	3 gene(s)	inside rSNPs	diseases

mRNA abundance (count:1)

SNP	Gene	Cis/trans	Tissue	Source
rs4864608	RP11-738E22.3	cis	Esophagus Mucosa	GTEx

Chromatin state (count:125 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:57777600-57803200	Weak transcription	NHDF-Ad	bronchial
2	chr4:57777600-57805600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
3	chr4:57777600-57806000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
4	chr4:57778400-57800200	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
5	chr4:57778400-57800200	Strong transcription	HUES6 Cell Line	embryonic stem cell
6	chr4:57778400-57801000	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
7	chr4:57779000-57804600	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
8	chr4:57779200-57799200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
9	chr4:57779800-57799600	Weak transcription	Right Atrium	heart
10	chr4:57780400-57800400	Strong transcription	Fetal Thymus	thymus
11	chr4:57780800-57808200	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
12	chr4:57781000-57799600	Weak transcription	Psoas Muscle	Psoas
13	chr4:57781800-57801400	Strong transcription	Monocytes-CD14+_RO01746	blood
14	chr4:57783200-57801400	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
15	chr4:57783800-57802000	Strong transcription	Dnd41	blood
16	chr4:57784200-57800000	Strong transcription	Primary monocytes fromperipheralblood	blood
17	chr4:57785400-57800800	Strong transcription	Primary T cells fromperipheralblood	blood
18	chr4:57786200-57800400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
19	chr4:57789800-57803200	Weak transcription	Placenta Amnion	Placenta Amnion
20	chr4:57790800-57799800	Strong transcription	HUES48 Cell Line	embryonic stem cell
21	chr4:57793400-57799600	Strong transcription	iPS-20b Cell Line	embryonic stem cell
22	chr4:57793400-57800400	Strong transcription	HUES64 Cell Line	embryonic stem cell
23	chr4:57793600-57800200	Strong transcription	Primary B cells from peripheral blood	blood
24	chr4:57793600-57842000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
25	chr4:57793600-57842000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr4:57794000-57800400	Strong transcription	Primary hematopoietic stem cells	blood
27	chr4:57794800-57802000	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
28	chr4:57795000-57800000	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
29	chr4:57795200-57800400	Strong transcription	HSMM	muscle
30	chr4:57795600-57799800	Strong transcription	HepG2	liver
31	chr4:57795600-57800000	Strong transcription	iPS-18 Cell Line	embryonic stem cell
32	chr4:57795800-57798800	Strong transcription	Adipose Nuclei	Adipose
33	chr4:57795800-57799400	Strong transcription	Primary neutrophils fromperipheralblood	blood
34	chr4:57795800-57800000	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
35	chr4:57795800-57800400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
36	chr4:57796000-57798800	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
37	chr4:57796000-57798800	Strong transcription	HMEC	breast
38	chr4:57796000-57799200	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
39	chr4:57796000-57800200	Strong transcription	Primary B cells from cord blood	blood
40	chr4:57796000-57800600	Strong transcription	HUVEC	blood vessel
41	chr4:57796800-57799600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
42	chr4:57796800-57803400	Weak transcription	Hela-S3	cervix
43	chr4:57797400-57799800	Weak transcription	Brain Cingulate Gyrus	brain
44	chr4:57797600-57799200	Weak transcription	Brain Angular Gyrus	brain
45	chr4:57797600-57799800	Weak transcription	Brain Inferior Temporal Lobe	brain
46	chr4:57797600-57805400	Weak transcription	Brain Germinal Matrix	brain
47	chr4:57797600-57805400	Weak transcription	Colon Smooth Muscle	Colon
48	chr4:57797600-57807000	Weak transcription	Gastric	stomach
49	chr4:57797600-57811800	Weak transcription	Stomach Mucosa	stomach
50	chr4:57797800-57799400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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