Variant report

Variant	rs55833486
Chromosome Location	chr4:6978729-6978730
allele	A/C
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 68 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:65)

rs_ID	r²[population]
rs1048009	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs28384174	1.00[ASN][1000 genomes]
rs28729690	1.00[ASN][1000 genomes]
rs41410847	1.00[ASN][1000 genomes]
rs55633489	0.84[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs55659111	0.82[EUR][1000 genomes]
rs55672215	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs55740475	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs55913461	0.82[EUR][1000 genomes]
rs55942328	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56031152	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56074877	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56081162	0.80[AFR][1000 genomes];0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56094305	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs56097119	0.87[EUR][1000 genomes]
rs56178503	0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs56300156	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs56320732	0.92[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56350643	0.82[EUR][1000 genomes]
rs56400338	0.85[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs56903115	1.00[ASN][1000 genomes]
rs57454756	1.00[ASN][1000 genomes]
rs59683609	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs59742225	1.00[ASN][1000 genomes]
rs59809420	1.00[ASN][1000 genomes]
rs60048916	0.97[AFR][1000 genomes];0.84[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66519732	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes]
rs66573146	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66611116	1.00[ASN][1000 genomes]
rs66645969	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66712119	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs66734745	1.00[ASN][1000 genomes]
rs66808450	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs66819208	1.00[ASN][1000 genomes]
rs66905212	1.00[ASN][1000 genomes]
rs66978412	0.84[AFR][1000 genomes]
rs67067921	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67245546	1.00[ASN][1000 genomes]
rs67252699	0.81[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67315413	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67321746	1.00[ASN][1000 genomes]
rs67405518	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs67702333	0.99[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs67750430	1.00[ASN][1000 genomes]
rs67922134	0.83[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs67998004	0.82[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs68111914	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6812391	0.88[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs6812771	0.84[AFR][1000 genomes];0.92[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs68169399	1.00[ASN][1000 genomes]
rs6838042	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6838250	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841389	0.82[EUR][1000 genomes]
rs6851488	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6855531	1.00[ASN][1000 genomes]
rs73088528	0.87[AFR][1000 genomes];0.96[AMR][1000 genomes];1.00[ASN][1000 genomes]
rs73088564	0.98[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73199995	0.84[AFR][1000 genomes];1.00[ASN][1000 genomes]
rs73202120	1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs73202122	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7668802	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7675281	0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686168	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7686186	0.80[AFR][1000 genomes];0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs9942188	0.84[AMR][1000 genomes];0.82[EUR][1000 genomes];1.00[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	nsv878529	chr4:6883012-6983677	Enhancers Flanking Active TSS Weak transcription Active TSS Strong transcription Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	30 gene(s)	inside rSNPs	diseases
2	nsv878530	chr4:6888932-7058473	Strong transcription Enhancers Weak transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Transcr. at gene 5' and 3' Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
3	esv34033	chr4:6973270-7390621	Weak transcription Enhancers Strong transcription Flanking Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh Genic enhancers ZNF genes & repeats Active TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	40 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:54 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:6965400-6987800	Weak transcription	Small Intestine	intestine
2	chr4:6968000-6987600	Weak transcription	HSMM	muscle
3	chr4:6969800-6985200	Weak transcription	Primary hematopoietic stem cells	blood
4	chr4:6969800-6986000	Weak transcription	Left Ventricle	heart
5	chr4:6970800-6985800	Weak transcription	Esophagus	oesophagus
6	chr4:6970800-6987800	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
7	chr4:6971600-6986400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
8	chr4:6972000-6986000	Weak transcription	Right Ventricle	heart
9	chr4:6972400-6985800	Weak transcription	Duodenum Mucosa	Duodenum
10	chr4:6972400-6986000	Weak transcription	Ovary	ovary
11	chr4:6972800-6985800	Weak transcription	Sigmoid Colon	Sigmoid Colon
12	chr4:6973800-6985000	Weak transcription	Spleen	Spleen
13	chr4:6974000-6985400	Weak transcription	HepG2	liver
14	chr4:6974800-6985800	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
15	chr4:6975200-6985600	Weak transcription	Fetal Intestine Small	intestine
16	chr4:6976200-6985200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
17	chr4:6976200-6985200	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
18	chr4:6976200-6985200	Weak transcription	Rectal Mucosa Donor 29	rectum
19	chr4:6976200-6985800	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
20	chr4:6976200-6987800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
21	chr4:6976400-6980800	Weak transcription	Stomach Mucosa	stomach
22	chr4:6976400-6985000	Weak transcription	Primary monocytes fromperipheralblood	blood
23	chr4:6976400-6985600	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
24	chr4:6976400-6985800	Weak transcription	Primary T cells effector/memory enriched fromperipheralblood	blood
25	chr4:6976400-6986000	Weak transcription	Primary Natural Killer cells fromperipheralblood	blood
26	chr4:6976400-6986000	Weak transcription	Placenta	Placenta
27	chr4:6976400-6987800	Weak transcription	Fetal Thymus	thymus
28	chr4:6976600-6980600	Weak transcription	iPS-15b Cell Line	embryonic stem cell
29	chr4:6976600-6983200	Weak transcription	Monocytes-CD14+_RO01746	blood
30	chr4:6976600-6983400	Weak transcription	Primary hematopoietic stem cells short term culture	blood
31	chr4:6976600-6985000	Weak transcription	Primary neutrophils fromperipheralblood	blood
32	chr4:6976600-6985000	Weak transcription	Primary B cells from cord blood	blood
33	chr4:6976600-6985400	Weak transcription	Primary T helper cells PMA-I stimulated	--
34	chr4:6976600-6985400	Weak transcription	Brain Hippocampus Middle	brain
35	chr4:6976600-6985800	Weak transcription	Primary T cells from cord blood	blood
36	chr4:6976600-6985800	Weak transcription	Rectal Mucosa Donor 31	rectum
37	chr4:6976600-6986000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
38	chr4:6976600-6986000	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
39	chr4:6976600-6986000	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr4:6976600-6986000	Weak transcription	Duodenum Smooth Muscle	Duodenum
41	chr4:6976600-6986400	Weak transcription	A549	lung
42	chr4:6976600-6987000	Weak transcription	Fetal Kidney	kidney
43	chr4:6976600-6987400	Weak transcription	HUES64 Cell Line	embryonic stem cell
44	chr4:6976600-6987600	Weak transcription	Thymus	Thymus
45	chr4:6976800-6984000	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
46	chr4:6976800-6985600	Weak transcription	Primary T cells fromperipheralblood	blood
47	chr4:6976800-6986400	Weak transcription	Breast Myoepithelial Primary Cells	Breast
48	chr4:6976800-6986600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
49	chr4:6977000-6985200	Weak transcription	Liver	Liver
50	chr4:6978400-6981200	Weak transcription	Primary T helper cells fromperipheralblood	blood

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