Variant report

Variant	rs62325197
Chromosome Location	chr4:99966899-99966900
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	chr4:99847842..99851448-chr4:99963294..99966988,3	K562	blood:

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

Extended variants
information (count: 112 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:110)

rs_ID	r²[population]
rs10002449	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs10084896	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs17028370	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs28659806	0.96[EUR][1000 genomes]
rs28720156	0.83[AMR][1000 genomes]
rs28730581	0.81[EUR][1000 genomes]
rs28730584	0.81[EUR][1000 genomes]
rs28730596	0.81[EUR][1000 genomes]
rs28730611	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28730617	0.81[EUR][1000 genomes]
rs28730625	0.81[EUR][1000 genomes]
rs28730641	0.81[EUR][1000 genomes]
rs28730643	0.81[EUR][1000 genomes]
rs28730644	0.81[EUR][1000 genomes]
rs28730645	0.81[EUR][1000 genomes]
rs28730646	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs28730649	0.81[EUR][1000 genomes]
rs28894370	0.81[EUR][1000 genomes]
rs28894371	0.83[AMR][1000 genomes]
rs29001228	0.83[AMR][1000 genomes]
rs29001338	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs29001342	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs29001346	0.81[EUR][1000 genomes]
rs29001348	0.81[EUR][1000 genomes]
rs5003497	0.81[EUR][1000 genomes]
rs55831712	1.00[EUR][1000 genomes]
rs61431883	0.81[EUR][1000 genomes]
rs62323213	1.00[EUR][1000 genomes]
rs62323214	1.00[EUR][1000 genomes]
rs62323216	1.00[EUR][1000 genomes]
rs62323217	1.00[EUR][1000 genomes]
rs62323230	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323231	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323233	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323234	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323235	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323238	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323240	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323241	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323242	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323244	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323245	0.83[AMR][1000 genomes];0.92[EUR][1000 genomes]
rs62323246	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323247	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323248	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323249	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323250	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323251	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323252	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323253	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323254	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323255	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323256	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323257	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323258	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62323259	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325160	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325161	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325182	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325183	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325184	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325185	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325186	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325187	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325188	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325189	1.00[EUR][1000 genomes]
rs62325190	1.00[AMR][1000 genomes];0.89[EUR][1000 genomes]
rs62325192	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325193	0.93[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325194	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325195	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325196	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325198	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325199	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325200	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325201	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325202	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325203	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325204	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325205	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325206	1.00[EUR][1000 genomes]
rs62325208	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325209	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325210	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325211	0.85[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325212	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325213	0.83[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325236	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325237	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325238	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs62325239	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs62325240	0.81[EUR][1000 genomes]
rs62325241	0.81[EUR][1000 genomes]
rs62325242	0.81[EUR][1000 genomes]
rs62325245	0.83[AMR][1000 genomes];0.81[EUR][1000 genomes]
rs6532781	0.81[EUR][1000 genomes]
rs6532792	0.81[EUR][1000 genomes]
rs6819694	0.81[EUR][1000 genomes]
rs6819724	0.81[EUR][1000 genomes]
rs6822742	0.81[EUR][1000 genomes]
rs6823388	0.81[EUR][1000 genomes]
rs6827292	0.81[EUR][1000 genomes]
rs72897156	0.81[EUR][1000 genomes]
rs7667261	0.81[EUR][1000 genomes]
rs7679102	0.81[EUR][1000 genomes]
rs7681427	0.81[EUR][1000 genomes]
rs7687322	0.81[EUR][1000 genomes]
rs9995869	1.00[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	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:121 , 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	chr4:99942200-99969600	Weak transcription	Fetal Brain Female	brain
4	chr4:99944200-99968800	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
5	chr4:99944200-99969600	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
6	chr4:99944200-99979000	Weak transcription	Colonic Mucosa	Colon
7	chr4:99944200-99979200	Weak transcription	Right Ventricle	heart
8	chr4:99944400-99967200	Weak transcription	Fetal Stomach	stomach
9	chr4:99944400-99971600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
10	chr4:99944400-99979200	Weak transcription	Brain Hippocampus Middle	brain
11	chr4:99945000-99969600	Weak transcription	Rectal Smooth Muscle	rectum
12	chr4:99946000-99976800	Weak transcription	Stomach Mucosa	stomach
13	chr4:99946200-99970000	Weak transcription	Brain Anterior Caudate	brain
14	chr4:99946200-99977000	Weak transcription	Colon Smooth Muscle	Colon
15	chr4:99946400-99969000	Weak transcription	ES-I3 Cell Line	embryonic stem cell
16	chr4:99946400-99969400	Weak transcription	Placenta	Placenta
17	chr4:99946400-99973600	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr4:99946400-99979000	Weak transcription	Esophagus	oesophagus
19	chr4:99946600-99970000	Weak transcription	Hela-S3	cervix
20	chr4:99947000-99969600	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
21	chr4:99947000-99969800	Weak transcription	Ovary	ovary
22	chr4:99947000-99979000	Weak transcription	Gastric	stomach
23	chr4:99947000-99979200	Weak transcription	Pancreas	Pancrea
24	chr4:99947400-99982600	Weak transcription	Psoas Muscle	Psoas
25	chr4:99949000-99979000	Weak transcription	Small Intestine	intestine
26	chr4:99949200-99968400	Weak transcription	Sigmoid Colon	Sigmoid Colon
27	chr4:99949600-99969400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
28	chr4:99949600-99973200	Weak transcription	Fetal Kidney	kidney
29	chr4:99953800-99969800	Weak transcription	H9 Cell Line	embryonic stem cell
30	chr4:99954000-99971600	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
31	chr4:99954000-99999200	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
32	chr4:99954600-99976600	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr4:99954800-99977000	Weak transcription	Brain Substantia Nigra	brain
34	chr4:99955000-99969800	Weak transcription	Stomach Smooth Muscle	stomach
35	chr4:99955400-99968600	Weak transcription	Fetal Heart	heart
36	chr4:99955400-99980800	Weak transcription	HSMMtube	muscle
37	chr4:99955600-99969200	Weak transcription	NH-A	brain
38	chr4:99956200-99995000	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
39	chr4:99956400-99970000	Weak transcription	NHLF	lung
40	chr4:99957400-99967200	Weak transcription	Fetal Intestine Small	intestine
41	chr4:99958000-99970200	Weak transcription	Rectal Mucosa Donor 31	rectum
42	chr4:99959400-99976200	Strong transcription	HUES64 Cell Line	embryonic stem cell
43	chr4:99959600-99976000	Strong transcription	iPS-20b Cell Line	embryonic stem cell
44	chr4:99959800-99973600	Strong transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
45	chr4:99959800-100000200	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
46	chr4:99960000-99970000	Weak transcription	Duodenum Smooth Muscle	Duodenum
47	chr4:99960200-99967200	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
48	chr4:99960200-99969400	Weak transcription	Liver	Liver
49	chr4:99960400-99969600	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
50	chr4:99960400-99969800	Weak transcription	A549	lung

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