Variant report

Variant	rs7614233
Chromosome Location	chr3:53845759-53845760
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:53844590..53847374-chr3:53851329..53853049,2	K562	blood:
2	chr17:41398908..41400636-chr3:53845668..53847188,2	K562	blood:
3	chr3:53841128..53843687-chr3:53845515..53847366,2	K562	blood:
4	chr17:41464201..41466333-chr3:53844168..53847168,4	K562	blood:
5	chr10:103124630..103126130-chr3:53844188..53847168,2	K562	blood:
6	chr3:53844168..53847188-chr3:73158624..73161592,4	K562	blood:
7	chr17:41465368..41466186-chr3:53845668..53846168,2	NB4	blood:

Variant related genes	Relation type
ENSG00000223247	Chromatin interaction
ENSG00000188825	Chromatin interaction
ENSG00000222414	Chromatin interaction

Extended variants
information (count: 36 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:27)

rs_ID	r²[population]
rs11130383	1.00[AMR][1000 genomes]
rs11130384	1.00[AMR][1000 genomes]
rs13321898	1.00[AMR][1000 genomes]
rs13434145	0.83[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs28409957	1.00[AMR][1000 genomes]
rs6782007	1.00[AMR][1000 genomes]
rs6785238	1.00[AMR][1000 genomes]
rs6802878	1.00[AMR][1000 genomes]
rs72556356	1.00[AMR][1000 genomes]
rs7636496	1.00[AMR][1000 genomes]
rs7637908	1.00[AMR][1000 genomes]
rs7640840	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9814675	1.00[AMR][1000 genomes]
rs9816010	1.00[AMR][1000 genomes]
rs9818571	1.00[AMR][1000 genomes]
rs9823141	1.00[AMR][1000 genomes]
rs9830672	1.00[AMR][1000 genomes]
rs9833359	1.00[AMR][1000 genomes]
rs9834168	1.00[AMR][1000 genomes]
rs9835258	1.00[AMR][1000 genomes]
rs9849610	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9852243	1.00[AMR][1000 genomes]
rs9859937	1.00[YRI][hapmap];1.00[AMR][1000 genomes]
rs9860224	1.00[AMR][1000 genomes]
rs9872403	1.00[AMR][1000 genomes]
rs9878250	1.00[AMR][1000 genomes]
rs9882134	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:9 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1003621	chr3:53448934-54425322	Active TSS Strong transcription Bivalent Enhancer Weak transcription Flanking Active TSS Enhancers Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
2	nsv1001128	chr3:53659570-53927842	Flanking Active TSS Weak transcription Bivalent Enhancer Active TSS Enhancers Transcr. at gene 5' and 3' Strong transcription ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
3	nsv1013783	chr3:53694418-53934781	Enhancers Weak transcription Flanking Active TSS Transcr. at gene 5' and 3' Strong transcription Active TSS Bivalent Enhancer Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
4	nsv1003204	chr3:53820070-53877149	Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
5	nsv1002375	chr3:53822319-53872753	Weak transcription Enhancers Strong transcription Bivalent Enhancer Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Active TSS Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	9 gene(s)	inside rSNPs	diseases
6	nsv876803	chr3:53822893-53889849	Weak transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS Bivalent Enhancer Genic enhancers Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
7	nsv518466	chr3:53832903-53882663	Weak transcription Enhancers Bivalent/Poised TSS Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
8	nsv521181	chr3:53833509-53881471	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	14 gene(s)	inside rSNPs	diseases
9	nsv876804	chr3:53833509-53934171	Flanking Active TSS Weak transcription Strong transcription Genic enhancers Enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:45 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:53829200-53853000	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
2	chr3:53830400-53851200	Weak transcription	Fetal Brain Male	brain
3	chr3:53839000-53849800	Strong transcription	Fetal Lung	lung
4	chr3:53839200-53855200	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
5	chr3:53839400-53851400	Weak transcription	iPS-18 Cell Line	embryonic stem cell
6	chr3:53839600-53849000	Weak transcription	Brain Cingulate Gyrus	brain
7	chr3:53839600-53851000	Weak transcription	HUES6 Cell Line	embryonic stem cell
8	chr3:53839600-53851200	Weak transcription	H1 Cell Line	embryonic stem cell
9	chr3:53839600-53852800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
10	chr3:53839600-53876600	Weak transcription	HUES64 Cell Line	embryonic stem cell
11	chr3:53839800-53849200	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
12	chr3:53840600-53851200	Weak transcription	Aorta	Aorta
13	chr3:53840800-53853600	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
14	chr3:53841000-53852600	Weak transcription	Ovary	ovary
15	chr3:53841000-53852800	Weak transcription	Stomach Smooth Muscle	stomach
16	chr3:53841400-53849000	Weak transcription	Duodenum Mucosa	Duodenum
17	chr3:53841400-53850400	Weak transcription	Brain Hippocampus Middle	brain
18	chr3:53841600-53849000	Weak transcription	Breast Myoepithelial Primary Cells	Breast
19	chr3:53841600-53851000	Weak transcription	Brain Angular Gyrus	brain
20	chr3:53841600-53851200	Weak transcription	Colonic Mucosa	Colon
21	chr3:53841600-53851400	Weak transcription	Fetal Muscle Leg	muscle
22	chr3:53841600-53851400	Weak transcription	Sigmoid Colon	Sigmoid Colon
23	chr3:53841600-53855600	Weak transcription	Right Ventricle	heart
24	chr3:53841600-53855800	Weak transcription	Right Atrium	heart
25	chr3:53841800-53850600	Weak transcription	Rectal Mucosa Donor 29	rectum
26	chr3:53841800-53850600	Weak transcription	HepG2	liver
27	chr3:53841800-53851200	Weak transcription	Rectal Mucosa Donor 31	rectum
28	chr3:53841800-53853400	Weak transcription	Fetal Brain Female	brain
29	chr3:53841800-53853400	Weak transcription	GM12878-XiMat	blood
30	chr3:53842200-53852200	Strong transcription	Fetal Intestine Small	intestine
31	chr3:53842200-53852600	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr3:53842200-53857200	Strong transcription	Fetal Intestine Large	intestine
33	chr3:53842400-53855600	Weak transcription	Fetal Heart	heart
34	chr3:53843600-53846200	Strong transcription	Pancreatic Islets	Pancreatic Islet
35	chr3:53843800-53849000	Weak transcription	Fetal Stomach	stomach
36	chr3:53844400-53849200	Weak transcription	Pancreas	Pancrea
37	chr3:53844400-53852000	Weak transcription	iPS DF 19.11 Cell Line	embryonic stem cell
38	chr3:53844600-53846400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr3:53844600-53851200	Weak transcription	Spleen	Spleen
40	chr3:53844800-53846000	Strong transcription	Brain Dorsolateral Prefrontal Cortex	brain
41	chr3:53845000-53846000	Strong transcription	Brain Anterior Caudate	brain
42	chr3:53845000-53846000	Strong transcription	Brain Inferior Temporal Lobe	brain
43	chr3:53845200-53846000	ZNF genes & repeats	Lung	lung
44	chr3:53845400-53849000	Weak transcription	Liver	Liver
45	chr3:53845400-53850800	Weak transcription	Gastric	stomach

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