Variant report

Variant	rs4682233
Chromosome Location	chr3:110845394-110845395
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

Extended variants
information (count: 77 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:69)

rs_ID	r²[population]
rs11929276	1.00[EUR][1000 genomes]
rs1381827	1.00[EUR][1000 genomes]
rs1381829	1.00[EUR][1000 genomes]
rs1462791	1.00[EUR][1000 genomes]
rs1462792	1.00[EUR][1000 genomes]
rs1462796	1.00[EUR][1000 genomes]
rs1462806	1.00[EUR][1000 genomes]
rs1580287	1.00[EUR][1000 genomes]
rs1599665	1.00[EUR][1000 genomes]
rs1960628	1.00[EUR][1000 genomes]
rs1993801	1.00[EUR][1000 genomes]
rs2061682	1.00[EUR][1000 genomes]
rs2169566	1.00[EUR][1000 genomes]
rs3733175	1.00[AMR][1000 genomes]
rs4305447	1.00[EUR][1000 genomes]
rs4593059	1.00[EUR][1000 genomes]
rs4682216	1.00[EUR][1000 genomes]
rs4682218	1.00[EUR][1000 genomes]
rs4682220	1.00[EUR][1000 genomes]
rs4682236	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4682237	1.00[EUR][1000 genomes]
rs4682239	1.00[AMR][1000 genomes]
rs4682241	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs58106260	1.00[EUR][1000 genomes]
rs58423117	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs59248935	1.00[AMR][1000 genomes]
rs61035297	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6437935	1.00[EUR][1000 genomes]
rs6437936	1.00[EUR][1000 genomes]
rs6437956	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6765553	1.00[EUR][1000 genomes]
rs6804912	0.89[AMR][1000 genomes]
rs72935984	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72935992	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72937908	1.00[EUR][1000 genomes]
rs72937909	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72937912	1.00[EUR][1000 genomes]
rs72937914	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72937920	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72937925	0.84[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72937928	0.94[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72937936	1.00[EUR][1000 genomes]
rs72937940	1.00[AMR][1000 genomes]
rs72937946	1.00[AMR][1000 genomes]
rs72937954	1.00[AMR][1000 genomes]
rs72937963	0.87[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs72937977	1.00[EUR][1000 genomes]
rs72937981	1.00[EUR][1000 genomes]
rs72937987	0.89[AMR][1000 genomes]
rs72937998	1.00[EUR][1000 genomes]
rs72939908	1.00[EUR][1000 genomes]
rs7609772	1.00[EUR][1000 genomes]
rs7619492	1.00[EUR][1000 genomes]
rs7628011	1.00[EUR][1000 genomes]
rs7628921	1.00[EUR][1000 genomes]
rs7634788	1.00[EUR][1000 genomes]
rs7637601	1.00[EUR][1000 genomes]
rs7637704	1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs7641469	1.00[EUR][1000 genomes]
rs7650020	1.00[EUR][1000 genomes]
rs898974	1.00[EUR][1000 genomes]
rs931024	1.00[EUR][1000 genomes]
rs9826523	1.00[EUR][1000 genomes]
rs9830162	1.00[EUR][1000 genomes]
rs9835919	1.00[EUR][1000 genomes]
rs9856917	1.00[EUR][1000 genomes]
rs9869379	1.00[EUR][1000 genomes]
rs990256	1.00[EUR][1000 genomes]
rs992130	1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:8 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003106	chr3:110264476-111105943	Weak transcription Enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	13 gene(s)	inside rSNPs	diseases
2	nsv460821	chr3:110637471-111501097	Enhancers Active TSS Strong transcription Flanking Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv591275	chr3:110637471-111501097	Strong transcription Enhancers Weak transcription ZNF genes & repeats Active TSS Bivalent/Poised TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	esv1850918	chr3:110685181-110889974	Bivalent Enhancer Weak transcription Enhancers Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Active TSS Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	5 gene(s)	inside rSNPs	diseases
5	nsv591276	chr3:110822496-110854196	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
6	nsv877338	chr3:110824425-110860188	Weak transcription Enhancers Strong transcription Genic enhancers ZNF genes & repeats	Chromatin interactive region lncRNA	2 gene(s)	inside rSNPs	n/a
7	nsv1008308	chr3:110836281-110885834	Enhancers Weak transcription Strong transcription Genic enhancers ZNF genes & repeats Flanking Active TSS	Chromatin interactive region	2 gene(s)	inside rSNPs	n/a
8	nsv963531	chr3:110844919-110856568	Weak transcription Enhancers Strong transcription Genic enhancers	Chromatin interactive region	n/a	inside rSNPs	n/a

No data

Chromatin state (count:65 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:110816000-110873800	Weak transcription	Left Ventricle	heart
2	chr3:110816000-110893400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr3:110817400-110855200	Weak transcription	Pancreas	Pancrea
4	chr3:110819200-110857200	Weak transcription	NHLF	lung
5	chr3:110826800-110847600	Weak transcription	A549	lung
6	chr3:110826800-110884200	Weak transcription	Foreskin Melanocyte Primary Cells skin03	Skin
7	chr3:110827000-110847400	Weak transcription	Duodenum Smooth Muscle	Duodenum
8	chr3:110827800-110849200	Weak transcription	Sigmoid Colon	Sigmoid Colon
9	chr3:110828000-110851400	Weak transcription	Aorta	Aorta
10	chr3:110829400-110893400	Weak transcription	HUVEC	blood vessel
11	chr3:110830400-110852800	Weak transcription	NH-A	brain
12	chr3:110830600-110854200	Weak transcription	Right Ventricle	heart
13	chr3:110830800-110852400	Weak transcription	Fetal Brain Male	brain
14	chr3:110830800-110853800	Weak transcription	Brain Inferior Temporal Lobe	brain
15	chr3:110832000-110854600	Weak transcription	Fetal Muscle Trunk	muscle
16	chr3:110832000-110854600	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:110832000-110856600	Weak transcription	Stomach Smooth Muscle	stomach
18	chr3:110832200-110847200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
19	chr3:110832200-110852400	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr3:110832200-110853600	Weak transcription	HSMMtube	muscle
21	chr3:110832200-110881800	Weak transcription	Small Intestine	intestine
22	chr3:110832200-110892400	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
23	chr3:110832400-110911200	Weak transcription	Rectal Mucosa Donor 31	rectum
24	chr3:110832800-110852400	Weak transcription	Cortex derived primary cultured neurospheres	brain
25	chr3:110833600-110855400	Weak transcription	Colon Smooth Muscle	Colon
26	chr3:110834000-110891800	Weak transcription	Rectal Smooth Muscle	rectum
27	chr3:110834400-110852400	Weak transcription	Ovary	ovary
28	chr3:110835600-110929600	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
29	chr3:110836200-110846200	Weak transcription	Osteobl	bone
30	chr3:110836200-110848400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
31	chr3:110836200-110872800	Weak transcription	Rectal Mucosa Donor 29	rectum
32	chr3:110837200-110854400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
33	chr3:110837400-110846400	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
34	chr3:110838200-110846400	Weak transcription	Fetal Intestine Small	intestine
35	chr3:110838200-110847200	Weak transcription	HUES6 Cell Line	embryonic stem cell
36	chr3:110838200-110847600	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
37	chr3:110838200-110847800	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
38	chr3:110838200-110848600	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
39	chr3:110838400-110846200	Weak transcription	Fetal Muscle Leg	muscle
40	chr3:110838400-110846400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
41	chr3:110838400-110846400	Weak transcription	Fetal Stomach	stomach
42	chr3:110838400-110847600	Weak transcription	H1 Cell Line	embryonic stem cell
43	chr3:110838400-110880200	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
44	chr3:110840200-110848000	Strong transcription	Dnd41	blood
45	chr3:110840600-110846000	Strong transcription	NHDF-Ad	bronchial
46	chr3:110840800-110846200	Strong transcription	iPS-20b Cell Line	embryonic stem cell
47	chr3:110840800-110846400	Strong transcription	HUES64 Cell Line	embryonic stem cell
48	chr3:110841000-110847200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
49	chr3:110842400-110847400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
50	chr3:110842600-110852400	Weak transcription	Muscle Satellite Cultured Cells	--

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