Variant report

Variant	rs73776027
Chromosome Location	chr5:98240091-98240092
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr5:98232177..98234345-chr5:98238725..98241522,2	K562	blood:
2	chr5:98238981..98243002-chr5:98262998..98267488,6	MCF-7	breast:
3	chr5:98233648..98237823-chr5:98238071..98240258,3	K562	blood:
4	chr5:98239512..98242254-chr5:98395636..98397336,2	K562	blood:

Variant related genes	Relation type
ENSG00000248489	Chromatin interaction

Extended variants
information (count: 79 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:77)

rs_ID	r²[population]
rs10039507	0.83[EUR][1000 genomes]
rs10041263	0.83[EUR][1000 genomes]
rs10041335	0.83[EUR][1000 genomes]
rs10055595	0.83[EUR][1000 genomes]
rs10056842	0.83[EUR][1000 genomes]
rs10056918	0.83[EUR][1000 genomes]
rs10061406	0.85[EUR][1000 genomes]
rs10064594	0.81[EUR][1000 genomes]
rs10065808	0.83[EUR][1000 genomes]
rs10067635	0.83[EUR][1000 genomes]
rs10067866	0.83[EUR][1000 genomes]
rs10068003	0.83[EUR][1000 genomes]
rs10068917	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs11948998	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11952820	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11953096	0.91[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs11956636	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs11958835	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12332280	0.83[EUR][1000 genomes]
rs12332340	0.83[EUR][1000 genomes]
rs12332364	0.81[EUR][1000 genomes]
rs12332383	0.83[EUR][1000 genomes]
rs161742	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs161747	0.82[AFR][1000 genomes]
rs17166414	0.93[EUR][1000 genomes]
rs17166423	0.93[EUR][1000 genomes]
rs17166428	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs17166439	0.93[EUR][1000 genomes]
rs17166455	0.91[EUR][1000 genomes]
rs17166484	0.87[EUR][1000 genomes]
rs17166575	0.83[EUR][1000 genomes]
rs2164986	0.93[EUR][1000 genomes]
rs2617507	0.84[AFR][1000 genomes]
rs2963709	0.83[EUR][1000 genomes]
rs327810	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs36011435	0.93[EUR][1000 genomes]
rs44070	0.84[AMR][1000 genomes];0.85[EUR][1000 genomes]
rs55780476	0.83[EUR][1000 genomes]
rs55821667	0.83[EUR][1000 genomes]
rs55854720	0.81[EUR][1000 genomes]
rs55862038	0.81[ASN][1000 genomes]
rs56086412	0.83[EUR][1000 genomes]
rs56096102	0.81[EUR][1000 genomes]
rs56115002	0.83[EUR][1000 genomes]
rs56153113	0.83[EUR][1000 genomes]
rs56159022	0.81[EUR][1000 genomes]
rs56160758	0.83[EUR][1000 genomes]
rs56232429	0.81[EUR][1000 genomes]
rs56331326	0.89[EUR][1000 genomes]
rs56331947	0.87[EUR][1000 genomes]
rs56400831	0.93[EUR][1000 genomes]
rs56898185	0.81[ASN][1000 genomes]
rs58224759	0.81[ASN][1000 genomes]
rs58479016	0.83[EUR][1000 genomes]
rs59181854	0.85[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs59325325	0.81[ASN][1000 genomes]
rs61199566	0.81[ASN][1000 genomes]
rs6596551	0.81[ASN][1000 genomes]
rs6866629	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.98[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6880359	0.88[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6883467	0.83[EUR][1000 genomes]
rs6890358	0.83[EUR][1000 genomes]
rs6893282	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs6895358	0.83[EUR][1000 genomes]
rs727637	0.92[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73776004	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73776005	0.87[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73776017	0.92[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs73776026	1.00[ASN][1000 genomes]
rs73776028	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73776032	1.00[ASN][1000 genomes]
rs7708436	0.87[EUR][1000 genomes]
rs7726329	0.83[AFR][1000 genomes];0.80[AMR][1000 genomes];1.00[EUR][1000 genomes];0.81[ASN][1000 genomes]
rs7737402	0.85[EUR][1000 genomes]
rs9327950	0.80[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs9327954	0.83[EUR][1000 genomes]
rs9327955	0.83[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:2 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv882415	chr5:98134186-98312447	Weak transcription Enhancers Strong transcription Genic enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
2	nsv882416	chr5:98146106-98312447	Bivalent/Poised TSS Strong transcription Genic enhancers Weak transcription Enhancers Active TSS Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	35 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:126 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr5:98188400-98247000	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr5:98189600-98241000	Strong transcription	HUES48 Cell Line	embryonic stem cell
3	chr5:98189800-98241000	Strong transcription	Monocytes-CD14+_RO01746	blood
4	chr5:98189800-98241400	Strong transcription	HUES64 Cell Line	embryonic stem cell
5	chr5:98189800-98241400	Strong transcription	iPS-20b Cell Line	embryonic stem cell
6	chr5:98189800-98241800	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr5:98190000-98240600	Strong transcription	Primary neutrophils fromperipheralblood	blood
8	chr5:98190000-98240800	Strong transcription	Primary B cells from peripheral blood	blood
9	chr5:98190000-98240800	Strong transcription	Primary Natural Killer cells fromperipheralblood	blood
10	chr5:98190200-98240600	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
11	chr5:98190200-98240600	Strong transcription	Liver	Liver
12	chr5:98190200-98241000	Strong transcription	Primary monocytes fromperipheralblood	blood
13	chr5:98190400-98240400	Strong transcription	Primary T regulatory cells fromperipheralblood	blood
14	chr5:98190400-98240600	Strong transcription	Primary T cells fromperipheralblood	blood
15	chr5:98190400-98240800	Strong transcription	Rectal Mucosa Donor 29	rectum
16	chr5:98190400-98241200	Strong transcription	Fetal Thymus	thymus
17	chr5:98190400-98243800	Strong transcription	Dnd41	blood
18	chr5:98190600-98240600	Strong transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
19	chr5:98190600-98240800	Strong transcription	Primary T helper cells fromperipheralblood	blood
20	chr5:98190600-98240800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
21	chr5:98190600-98241000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
22	chr5:98191000-98240800	Strong transcription	HUES6 Cell Line	embryonic stem cell
23	chr5:98195200-98240800	Strong transcription	Primary B cells from cord blood	blood
24	chr5:98198400-98240800	Strong transcription	iPS-18 Cell Line	embryonic stem cell
25	chr5:98200000-98263000	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
26	chr5:98200200-98240400	Strong transcription	HSMM	muscle
27	chr5:98200600-98240800	Strong transcription	Primary hematopoietic stem cells	blood
28	chr5:98211400-98241200	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr5:98215000-98263000	Weak transcription	Esophagus	oesophagus
30	chr5:98216800-98241400	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
31	chr5:98219800-98240400	Strong transcription	Adipose Nuclei	Adipose
32	chr5:98220400-98240400	Strong transcription	Duodenum Smooth Muscle	Duodenum
33	chr5:98221400-98240800	Strong transcription	Rectal Mucosa Donor 31	rectum
34	chr5:98221600-98240600	Strong transcription	Primary T helper memory cells from peripheral blood 1	blood
35	chr5:98222000-98247000	Weak transcription	Fetal Heart	heart
36	chr5:98224200-98240800	Strong transcription	H1 Cell Line	embryonic stem cell
37	chr5:98225000-98240200	Strong transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr5:98225000-98240800	Strong transcription	Placenta	Placenta
39	chr5:98225800-98258400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
40	chr5:98226800-98240800	Strong transcription	HepG2	liver
41	chr5:98227200-98240600	Strong transcription	HMEC	breast
42	chr5:98228200-98259200	Weak transcription	Spleen	Spleen
43	chr5:98228400-98259200	Weak transcription	Gastric	stomach
44	chr5:98228400-98259400	Weak transcription	Brain Cingulate Gyrus	brain
45	chr5:98228400-98263000	Weak transcription	Aorta	Aorta
46	chr5:98229400-98240200	Strong transcription	Primary T killer naive cells fromperipheralblood	blood
47	chr5:98232000-98243800	Weak transcription	ES-I3 Cell Line	embryonic stem cell
48	chr5:98232000-98247000	Weak transcription	Right Ventricle	heart
49	chr5:98232000-98254200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr5:98232000-98258200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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