Variant report

Variant	rs9311450
Chromosome Location	chr3:50426335-50426336
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr3:50402953..50405922-chr3:50425118..50426805,2	MCF-7	breast:
2	chr3:50392667..50394424-chr3:50425965..50428609,2	MCF-7	breast:
3	chr3:50419009..50422090-chr3:50424618..50428241,4	MCF-7	breast:

Variant related genes	Relation type
ENSG00000271858	Chromatin interaction
ENSG00000007402	Chromatin interaction

Extended variants
information (count: 30 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:11)

rs_ID	r²[population]
rs13321215	0.87[AFR][1000 genomes]
rs13321551	1.00[YRI][hapmap]
rs13327678	1.00[YRI][hapmap]
rs7629425	1.00[YRI][hapmap]
rs9311452	1.00[YRI][hapmap]
rs9815191	0.87[AFR][1000 genomes]
rs9825506	1.00[YRI][hapmap]
rs9826259	1.00[YRI][hapmap]
rs9835557	0.87[AFR][1000 genomes]
rs9854224	0.87[AFR][1000 genomes]
rs9883977	1.00[YRI][hapmap]

Variant overlapped rSNPs/rCNVs (count:19 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv523662	chr3:50144951-50584999	Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Active TSS Enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	101 gene(s)	inside rSNPs	diseases
2	esv1821728	chr3:50156142-50657253	Strong transcription Weak transcription Flanking Active TSS Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Enhancers Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	109 gene(s)	inside rSNPs	diseases
3	esv1793751	chr3:50157364-50476363	Weak transcription Enhancers Transcr. at gene 5' and 3' Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Flanking Active TSS Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
4	esv1828162	chr3:50157364-50506151	Enhancers Genic enhancers Transcr. at gene 5' and 3' Flanking Active TSS Active TSS Weak transcription Strong transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	98 gene(s)	inside rSNPs	diseases
5	nsv470561	chr3:50158774-50584999	Flanking Active TSS Enhancers Weak transcription Genic enhancers Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
6	nsv876770	chr3:50158774-50609624	Active TSS Weak transcription Enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	103 gene(s)	inside rSNPs	diseases
7	nsv1001993	chr3:50187646-50640808	Weak transcription Enhancers Flanking Active TSS Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	104 gene(s)	inside rSNPs	diseases
8	nsv460531	chr3:50247824-50436827	Strong transcription Bivalent/Poised TSS Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Weak transcription Active TSS Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
9	nsv590255	chr3:50247824-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
10	nsv876772	chr3:50255305-50436827	Weak transcription Flanking Active TSS Strong transcription Enhancers Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Genic enhancers Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	93 gene(s)	inside rSNPs	diseases
11	nsv876774	chr3:50302830-50436827	Enhancers Strong transcription Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	83 gene(s)	inside rSNPs	diseases
12	nsv876773	chr3:50302830-50480131	Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Enhancers Weak transcription Strong transcription Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
13	nsv834693	chr3:50302830-50507964	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	87 gene(s)	inside rSNPs	diseases
14	nsv876775	chr3:50324672-50504896	Flanking Active TSS Weak transcription Enhancers Strong transcription Flanking Bivalent TSS/Enh Genic enhancers Active TSS Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	82 gene(s)	inside rSNPs	diseases
15	esv3584502	chr3:50368278-50659741	Strong transcription Bivalent/Poised TSS Enhancers Weak transcription Flanking Active TSS Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	55 gene(s)	inside rSNPs	diseases
16	nsv432419	chr3:50388396-50637496	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	32 gene(s)	inside rSNPs	diseases
17	nsv876778	chr3:50413707-50465518	Enhancers Weak transcription Bivalent Enhancer Bivalent/Poised TSS Flanking Active TSS Active TSS Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region	13 gene(s)	inside rSNPs	diseases
18	nsv590271	chr3:50420554-50436716	Weak transcription Bivalent Enhancer Enhancers Genic enhancers Bivalent/Poised TSS Flanking Active TSS Strong transcription Active TSS ZNF genes & repeats	Chromatin interactive region	6 gene(s)	inside rSNPs	diseases
19	esv989401	chr3:50424492-50426815	Enhancers Bivalent Enhancer Weak transcription Flanking Active TSS Genic enhancers	Chromatin interactive region	2 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:33 , 50 per page) page: 1

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:50411400-50430000	Weak transcription	H9 Cell Line	embryonic stem cell
2	chr3:50412800-50428000	Weak transcription	Right Ventricle	heart
3	chr3:50415200-50428400	Weak transcription	Brain Anterior Caudate	brain
4	chr3:50417000-50428000	Weak transcription	Gastric	stomach
5	chr3:50421400-50428000	Weak transcription	Esophagus	oesophagus
6	chr3:50421600-50426800	Weak transcription	Fetal Intestine Small	intestine
7	chr3:50421600-50428200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
8	chr3:50422400-50428000	Weak transcription	Brain Inferior Temporal Lobe	brain
9	chr3:50422600-50426800	Enhancers	Fetal Brain Male	brain
10	chr3:50422600-50428000	Weak transcription	Lung	lung
11	chr3:50422800-50426400	Enhancers	Fetal Adrenal Gland	Adrenal Gland
12	chr3:50423200-50427200	Weak transcription	Spleen	Spleen
13	chr3:50424000-50431000	Enhancers	Fetal Muscle Leg	muscle
14	chr3:50424000-50433000	Enhancers	Breast Myoepithelial Primary Cells	Breast
15	chr3:50424200-50426400	Enhancers	Skeletal Muscle Male	skeletal muscle
16	chr3:50424400-50427000	Weak transcription	Skeletal Muscle Female	skeletal muscle
17	chr3:50424600-50426400	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
18	chr3:50424800-50427200	Bivalent Enhancer	Fetal Muscle Trunk	muscle
19	chr3:50425200-50426400	Enhancers	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
20	chr3:50425200-50426400	Enhancers	HSMMtube	muscle
21	chr3:50425200-50426600	Bivalent Enhancer	H9 Derived Neuron Cultured Cells	ES cell derived
22	chr3:50425200-50426600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
23	chr3:50425400-50426400	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
24	chr3:50425800-50426600	Enhancers	NH-A	brain
25	chr3:50425800-50427000	Genic enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
26	chr3:50426000-50426400	Bivalent Enhancer	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:50426000-50426400	Enhancers	HUES6 Cell Line	embryonic stem cell
28	chr3:50426000-50426600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
29	chr3:50426000-50431400	Enhancers	Brain Germinal Matrix	brain
30	chr3:50426200-50426400	Enhancers	iPS DF 6.9 Cell Line	embryonic stem cell
31	chr3:50426200-50426600	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
32	chr3:50426200-50428200	Weak transcription	Brain Angular Gyrus	brain
33	chr3:50426200-50429600	Enhancers	Pancreas	Pancrea

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