Variant report

Variant	rs1801838
Chromosome Location	chr4:76568609-76568610
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	chr4:76566167..76568657-chr4:76571863..76573668,2	K562	blood:
2	chr4:76438606..76440115-chr4:76567379..76569948,2	K562	blood:

Variant related genes	Relation type
ENSG00000163743	Chromatin interaction
ENSG00000174796	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:30)

rs_ID	r²[population]
rs17000766	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs2017607	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes]
rs2037012	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs41398350	0.80[AFR][1000 genomes];0.94[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs56084244	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56151783	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56308338	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs56693719	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs56728961	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs57008925	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs57099382	0.87[AMR][1000 genomes];0.83[EUR][1000 genomes]
rs58140957	1.00[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs58822138	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];0.91[EUR][1000 genomes]
rs59405026	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs59448225	0.94[AMR][1000 genomes];0.87[ASN][1000 genomes]
rs59684133	0.81[AFR][1000 genomes]
rs60332325	0.97[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs66606482	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs67662392	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6812339	1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs68155345	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs6818849	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes];0.93[EUR][1000 genomes]
rs6821144	1.00[AMR][1000 genomes]
rs6823013	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6828587	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6841290	0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6843244	0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];0.94[EUR][1000 genomes]
rs6857983	0.87[AMR][1000 genomes]
rs72649405	0.80[AFR][1000 genomes];1.00[AMR][1000 genomes];0.90[EUR][1000 genomes];0.87[ASN][1000 genomes]
rs72649420	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[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	nsv879495	chr4:76493256-76585823	Strong transcription Active TSS Flanking Active TSS Enhancers Weak transcription ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
2	nsv879496	chr4:76493256-76620803	Flanking Active TSS Weak transcription Enhancers Active TSS Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	26 gene(s)	inside rSNPs	diseases
3	nsv879497	chr4:76519096-76620803	Weak transcription Active TSS Strong transcription Enhancers Bivalent Enhancer Flanking Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh 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	esv1793652	chr4:76521217-76581775	Weak transcription Strong transcription Genic enhancers Enhancers Active TSS Transcr. at gene 5' and 3' Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	5 gene(s)	inside rSNPs	diseases
5	esv3353539	chr4:76530136-76993859	Weak transcription Active TSS Enhancers Strong transcription Flanking Active TSS Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	51 gene(s)	inside rSNPs	diseases

No data

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

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:76556200-76590000	Weak transcription	Small Intestine	intestine
2	chr4:76556400-76568800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
3	chr4:76556400-76568800	Weak transcription	Primary T helper cells fromperipheralblood	blood
4	chr4:76556400-76568800	Weak transcription	Thymus	Thymus
5	chr4:76556400-76568800	Weak transcription	NH-A	brain
6	chr4:76556400-76569000	Weak transcription	Placenta Amnion	Placenta Amnion
7	chr4:76556400-76569000	Weak transcription	Sigmoid Colon	Sigmoid Colon
8	chr4:76556400-76569000	Weak transcription	Skeletal Muscle Male	skeletal muscle
9	chr4:76556400-76569000	Weak transcription	Stomach Mucosa	stomach
10	chr4:76556400-76569800	Weak transcription	Psoas Muscle	Psoas
11	chr4:76556400-76570000	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
12	chr4:76556400-76570000	Weak transcription	Fetal Brain Male	brain
13	chr4:76556400-76570200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
14	chr4:76556400-76570600	Weak transcription	Esophagus	oesophagus
15	chr4:76556400-76570600	Weak transcription	Lung	lung
16	chr4:76556400-76570600	Weak transcription	Ovary	ovary
17	chr4:76556400-76570600	Weak transcription	Spleen	Spleen
18	chr4:76556600-76568800	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
19	chr4:76556600-76568800	Weak transcription	Primary T cells fromperipheralblood	blood
20	chr4:76556600-76568800	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
21	chr4:76556600-76568800	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
22	chr4:76556600-76568800	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
23	chr4:76556600-76568800	Weak transcription	Brain Angular Gyrus	brain
24	chr4:76556600-76568800	Weak transcription	Fetal Intestine Large	intestine
25	chr4:76556600-76569000	Weak transcription	Brain Germinal Matrix	brain
26	chr4:76556600-76569200	Weak transcription	Primary T helper memory cells from peripheral blood 2	blood
27	chr4:76556600-76569200	Weak transcription	Colon Smooth Muscle	Colon
28	chr4:76556600-76569200	Weak transcription	Duodenum Smooth Muscle	Duodenum
29	chr4:76556600-76569200	Weak transcription	Fetal Brain Female	brain
30	chr4:76556600-76569400	Weak transcription	Brain Hippocampus Middle	brain
31	chr4:76556600-76569800	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
32	chr4:76556600-76570000	Weak transcription	Primary T killer memory cells from peripheral blood	blood
33	chr4:76556600-76570000	Weak transcription	Brain Anterior Caudate	brain
34	chr4:76556600-76570400	Weak transcription	Fetal Intestine Small	intestine
35	chr4:76556800-76569400	Weak transcription	Fetal Heart	heart
36	chr4:76556800-76570600	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
37	chr4:76557000-76568800	Weak transcription	Brain Cingulate Gyrus	brain
38	chr4:76560000-76568800	Weak transcription	NHEK	skin
39	chr4:76560200-76569000	Weak transcription	Muscle Satellite Cultured Cells	--
40	chr4:76560400-76568800	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
41	chr4:76560400-76568800	Weak transcription	Primary hematopoietic stem cells G-CSF-mobilized Female	--
42	chr4:76562400-76570400	Weak transcription	Right Ventricle	heart
43	chr4:76562800-76568800	Weak transcription	Left Ventricle	heart
44	chr4:76562800-76569800	Weak transcription	Primary T regulatory cells fromperipheralblood	blood
45	chr4:76563000-76568800	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
46	chr4:76563000-76569000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
47	chr4:76563000-76570000	Weak transcription	NHLF	lung
48	chr4:76563000-76570600	Weak transcription	Aorta	Aorta
49	chr4:76563200-76568800	Weak transcription	HSMMtube	muscle
50	chr4:76563400-76569400	Weak transcription	Brain Substantia Nigra	brain

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