Variant report

Variant	rs6822811
Chromosome Location	chr4:99958774-99958775
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr4:99953749..99955598-chr4:99957117..99959892,2	K562	blood:
2	chr4:99849107..99853067-chr4:99958393..99961916,5	K562	blood:
3	chr4:99850538..99853067-chr4:99958598..99961528,2	K562	blood:
4	chr4:99916906..99919755-chr4:99957768..99959851,3	K562	blood:

Variant related genes	Relation type
ENSG00000263923	Chromatin interaction
ENSG00000151247	Chromatin interaction
ENSG00000164024	Chromatin interaction
ENSG00000265213	Chromatin interaction
ENSG00000238449	Chromatin interaction

Extended variants
information (count: 20 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:18)

rs_ID	r²[population]
rs10489130	0.84[AMR][1000 genomes]
rs17028382	0.92[AMR][1000 genomes]
rs17028421	1.00[AMR][1000 genomes]
rs35933543	1.00[AMR][1000 genomes]
rs57770074	1.00[AMR][1000 genomes]
rs58521602	0.84[AMR][1000 genomes]
rs60513719	1.00[AMR][1000 genomes]
rs6532777	1.00[AMR][1000 genomes]
rs6834982	1.00[AMR][1000 genomes]
rs6844771	1.00[AMR][1000 genomes]
rs72908953	1.00[AMR][1000 genomes]
rs72908961	1.00[AMR][1000 genomes]
rs72908966	1.00[AMR][1000 genomes]
rs72908968	0.84[AMR][1000 genomes]
rs72908992	1.00[AMR][1000 genomes]
rs72908996	0.85[AMR][1000 genomes]
rs7667503	0.92[AMR][1000 genomes]
rs7670154	1.00[AMR][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	nsv1009017	chr4:99669441-100406394	Active TSS Enhancers Flanking Active TSS Weak transcription Strong transcription ZNF genes & repeats Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	57 gene(s)	inside rSNPs	diseases
2	nsv1002927	chr4:99952472-100148690	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	28 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:107 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr4:99931600-99971400	Weak transcription	Aorta	Aorta
2	chr4:99932600-99969800	Weak transcription	Skeletal Muscle Female	skeletal muscle
3	chr4:99937600-99966200	Weak transcription	HUVEC	blood vessel
4	chr4:99942200-99969600	Weak transcription	Fetal Brain Female	brain
5	chr4:99943000-99959200	Weak transcription	Duodenum Smooth Muscle	Duodenum
6	chr4:99943800-99966200	Weak transcription	Adipose Nuclei	Adipose
7	chr4:99944200-99966200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr4:99944200-99968800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
9	chr4:99944200-99969600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
10	chr4:99944200-99979000	Weak transcription	Colonic Mucosa	Colon
11	chr4:99944200-99979200	Weak transcription	Right Ventricle	heart
12	chr4:99944400-99958800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
13	chr4:99944400-99958800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
14	chr4:99944400-99958800	Weak transcription	Fetal Muscle Leg	muscle
15	chr4:99944400-99959400	Weak transcription	HSMM	muscle
16	chr4:99944400-99965000	Weak transcription	Primary T cells fromperipheralblood	blood
17	chr4:99944400-99966400	Weak transcription	Muscle Satellite Cultured Cells	--
18	chr4:99944400-99967200	Weak transcription	Fetal Stomach	stomach
19	chr4:99944400-99971600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
20	chr4:99944400-99979200	Weak transcription	Brain Hippocampus Middle	brain
21	chr4:99945000-99969600	Weak transcription	Rectal Smooth Muscle	rectum
22	chr4:99946000-99976800	Weak transcription	Stomach Mucosa	stomach
23	chr4:99946200-99970000	Weak transcription	Brain Anterior Caudate	brain
24	chr4:99946200-99977000	Weak transcription	Colon Smooth Muscle	Colon
25	chr4:99946400-99969000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
26	chr4:99946400-99969400	Weak transcription	Placenta	Placenta
27	chr4:99946400-99973600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
28	chr4:99946400-99979000	Weak transcription	Esophagus	oesophagus
29	chr4:99946600-99964800	Weak transcription	Duodenum Mucosa	Duodenum
30	chr4:99946600-99970000	Weak transcription	Hela-S3	cervix
31	chr4:99947000-99964800	Weak transcription	Left Ventricle	heart
32	chr4:99947000-99969600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
33	chr4:99947000-99969800	Weak transcription	Ovary	ovary
34	chr4:99947000-99979000	Weak transcription	Gastric	stomach
35	chr4:99947000-99979200	Weak transcription	Pancreas	Pancrea
36	chr4:99947400-99982600	Weak transcription	Psoas Muscle	Psoas
37	chr4:99949000-99964400	Weak transcription	Rectal Mucosa Donor 29	rectum
38	chr4:99949000-99979000	Weak transcription	Small Intestine	intestine
39	chr4:99949200-99968400	Weak transcription	Sigmoid Colon	Sigmoid Colon
40	chr4:99949600-99958800	Weak transcription	NHDF-Ad	bronchial
41	chr4:99949600-99969400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
42	chr4:99949600-99973200	Weak transcription	Fetal Kidney	kidney
43	chr4:99950400-99959200	Weak transcription	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
44	chr4:99950400-99959400	Weak transcription	Liver	Liver
45	chr4:99950800-99959400	Weak transcription	Primary T helper memory cells from peripheral blood 1	blood
46	chr4:99950800-99966000	Weak transcription	Osteobl	bone
47	chr4:99951400-99959400	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
48	chr4:99951400-99963600	Weak transcription	Primary T helper naive cells fromperipheralblood	blood
49	chr4:99951800-99958800	Weak transcription	Primary B cells from peripheral blood	blood
50	chr4:99951800-99958800	Weak transcription	Primary T helper cells PMA-I stimulated	--

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