Variant report

Variant	rs3816637
Chromosome Location	chr3:158525574-158525575
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr3:158524631..158526273-chr3:158529876..158531827,2	K562	blood:
2	chr3:158519080..158523533-chr3:158523571..158529220,8	MCF-7	breast:

Variant related genes	Relation type
ENSG00000272247	Chromatin interaction
ENSG00000118855	Chromatin interaction

Extended variants
information (count: 33 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13316352	0.83[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs13318372	0.83[AFR][1000 genomes]
rs1381462	1.00[CHB][hapmap];1.00[CHD][hapmap];0.87[GIH][hapmap];1.00[JPT][hapmap];0.98[ASN][1000 genomes]
rs1381464	1.00[AFR][1000 genomes];0.98[ASN][1000 genomes]
rs1870830	0.83[LWK][hapmap];0.92[MKK][hapmap];1.00[YRI][hapmap];0.83[AFR][1000 genomes]
rs1985781	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.86[ASN][1000 genomes]
rs3755746	0.91[AFR][1000 genomes]
rs41272623	0.83[AFR][1000 genomes]
rs4680466	0.87[AFR][1000 genomes]
rs4680469	0.83[AFR][1000 genomes]
rs56070013	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs73158379	0.83[AFR][1000 genomes]
rs73158380	0.83[AFR][1000 genomes]
rs7619273	0.82[AFR][1000 genomes]
rs9290028	0.91[AFR][1000 genomes]
rs9857480	0.91[AFR][1000 genomes]
rs9859969	0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]
rs9861622	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.86[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[MKK][hapmap];0.97[TSI][hapmap];1.00[YRI][hapmap];0.95[AFR][1000 genomes];0.94[AMR][1000 genomes];0.98[EUR][1000 genomes];0.98[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:15 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1002378	chr3:157715428-158673414	Flanking Active TSS Weak transcription Strong transcription Flanking Bivalent TSS/Enh Enhancers Bivalent Enhancer Bivalent/Poised TSS Active TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	47 gene(s)	inside rSNPs	diseases
2	nsv1004124	chr3:158146715-158808638	Genic enhancers Strong transcription Weak transcription Enhancers ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	37 gene(s)	inside rSNPs	diseases
3	nsv530059	chr3:158332590-159147549	Strong transcription Weak transcription Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
4	nsv1014255	chr3:158358860-158768542	Weak transcription Enhancers Active TSS Strong transcription Flanking Bivalent TSS/Enh Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	27 gene(s)	inside rSNPs	diseases
5	nsv532665	chr3:158370013-158754245	Flanking Active TSS Strong transcription Enhancers Weak transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	24 gene(s)	inside rSNPs	diseases
6	nsv948755	chr3:158388780-158672287	Enhancers Weak transcription Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Active TSS 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	22 gene(s)	inside rSNPs	diseases
7	nsv877692	chr3:158430706-158828643	Flanking Bivalent TSS/Enh Flanking Active TSS Weak transcription Enhancers Strong transcription Active TSS ZNF genes & repeats Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
8	nsv1001450	chr3:158440011-158768399	Weak transcription Flanking Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
9	nsv536777	chr3:158440011-158768399	Flanking Active TSS Weak transcription Enhancers ZNF genes & repeats Genic enhancers Strong transcription Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	22 gene(s)	inside rSNPs	diseases
10	nsv877693	chr3:158470321-158583004	Enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases
11	nsv1006146	chr3:158475824-158625778	Weak transcription Enhancers Strong transcription Active TSS Bivalent/Poised TSS Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
12	nsv592123	chr3:158477796-158625128	Strong transcription Enhancers Flanking Active TSS Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
13	nsv1002514	chr3:158484027-158673414	Active TSS Weak transcription Enhancers Strong transcription Flanking Active TSS Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
14	nsv536778	chr3:158484027-158673414	Enhancers Weak transcription Genic enhancers Strong transcription Active TSS ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	14 gene(s)	inside rSNPs	diseases
15	nsv1014511	chr3:158516495-158715240	Weak transcription Enhancers Flanking Active TSS Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Bivalent Enhancer 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	12 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:114 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:158520400-158527400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
2	chr3:158520400-158552400	Weak transcription	Stomach Mucosa	stomach
3	chr3:158520600-158525600	Weak transcription	Fetal Kidney	kidney
4	chr3:158520600-158525600	Weak transcription	Gastric	stomach
5	chr3:158520600-158525600	Weak transcription	Left Ventricle	heart
6	chr3:158520600-158525600	Weak transcription	Sigmoid Colon	Sigmoid Colon
7	chr3:158520600-158525600	Weak transcription	Spleen	Spleen
8	chr3:158520600-158525800	Weak transcription	Pancreas	Pancrea
9	chr3:158520600-158526200	Weak transcription	Esophagus	oesophagus
10	chr3:158520600-158526400	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
11	chr3:158520600-158527000	Weak transcription	Placenta Amnion	Placenta Amnion
12	chr3:158520600-158543400	Weak transcription	ES-I3 Cell Line	embryonic stem cell
13	chr3:158520800-158525600	Weak transcription	Aorta	Aorta
14	chr3:158520800-158525600	Weak transcription	Fetal Muscle Trunk	muscle
15	chr3:158520800-158525600	Weak transcription	Ovary	ovary
16	chr3:158520800-158525800	Weak transcription	Colonic Mucosa	Colon
17	chr3:158520800-158526400	Weak transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
18	chr3:158520800-158526400	Weak transcription	Foreskin Melanocyte Primary Cells skin01	Skin
19	chr3:158520800-158545400	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr3:158521000-158526400	Weak transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
21	chr3:158521000-158527400	Weak transcription	Fetal Brain Male	brain
22	chr3:158521000-158527400	Weak transcription	Right Ventricle	heart
23	chr3:158521000-158543200	Weak transcription	HUES6 Cell Line	embryonic stem cell
24	chr3:158521200-158525600	Weak transcription	Brain Inferior Temporal Lobe	brain
25	chr3:158521200-158525600	Weak transcription	Brain Substantia Nigra	brain
26	chr3:158521200-158525600	Weak transcription	Fetal Brain Female	brain
27	chr3:158521200-158525600	Weak transcription	Fetal Intestine Small	intestine
28	chr3:158521200-158525600	Weak transcription	Fetal Muscle Leg	muscle
29	chr3:158521200-158526200	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
30	chr3:158521200-158526200	Weak transcription	HMEC	breast
31	chr3:158521200-158526400	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
32	chr3:158521200-158526400	Weak transcription	Thymus	Thymus
33	chr3:158521200-158526400	Weak transcription	NHEK	skin
34	chr3:158521200-158526600	Weak transcription	HSMMtube	muscle
35	chr3:158521200-158527200	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
36	chr3:158521200-158527400	Weak transcription	Psoas Muscle	Psoas
37	chr3:158521200-158527600	Weak transcription	Brain Germinal Matrix	brain
38	chr3:158521400-158525600	Weak transcription	Fetal Adrenal Gland	Adrenal Gland
39	chr3:158521400-158525600	Weak transcription	Rectal Smooth Muscle	rectum
40	chr3:158521400-158525800	Weak transcription	Brain Cingulate Gyrus	brain
41	chr3:158521400-158525800	Weak transcription	Small Intestine	intestine
42	chr3:158521400-158527400	Weak transcription	Fetal Heart	heart
43	chr3:158521400-158544400	Weak transcription	HepG2	liver
44	chr3:158521600-158525600	Weak transcription	Colon Smooth Muscle	Colon
45	chr3:158521600-158525600	Weak transcription	NHLF	lung
46	chr3:158521600-158526000	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
47	chr3:158521600-158526400	Weak transcription	Dnd41	blood
48	chr3:158521800-158526600	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
49	chr3:158521800-158527200	Weak transcription	Primary T killer memory cells from peripheral blood	blood
50	chr3:158522200-158533200	Strong transcription	Primary T cells fromperipheralblood	blood

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