Variant report

Variant	rs34831291
Chromosome Location	chr16:31073244-31073245
allele	G/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	POLR2A	chr16:31073201-31073252	H1-hESC	embryonic stem cell:	n/a	n/a

No.	Distal block	Cell Line	Cell type
1	chr16:31072499..31076258-chr16:31082404..31085688,4	K562	blood:
2	chr16:31043007..31053782-chr16:31072765..31087431,40	MCF-7	breast:
3	chr16:31062123..31065063-chr16:31072839..31075736,2	MCF-7	breast:
4	chr16:31072102..31073706-chr16:31075876..31078559,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000261124	TF binding region
ENSG00000167394	Chromatin interaction
ENSG00000261124	Chromatin interaction
ENSG00000103496	Chromatin interaction

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

rSNPs within LD-proxies of this variant (count:22)

rs_ID	r²[population]
rs13331793	1.00[AMR][1000 genomes]
rs13339393	1.00[AMR][1000 genomes]
rs17878259	1.00[AFR][1000 genomes]
rs28428182	1.00[AMR][1000 genomes]
rs28637378	1.00[AMR][1000 genomes]
rs34107331	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34259949	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs34889904	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs55886037	0.82[AFR][1000 genomes]
rs56196402	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs59076556	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs61237574	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015066	0.91[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015068	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015069	0.82[AFR][1000 genomes];1.00[AMR][1000 genomes]
rs74015071	1.00[AMR][1000 genomes]
rs74015099	1.00[AMR][1000 genomes]
rs74018303	1.00[AMR][1000 genomes]
rs9888851	1.00[AMR][1000 genomes]
rs9922051	1.00[AMR][1000 genomes]
rs9933960	1.00[AMR][1000 genomes]
rs9940181	1.00[AMR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:14 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv1062456	chr16:30442166-31253997	Weak transcription Flanking Active TSS Enhancers Strong transcription Active TSS Genic enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	437 gene(s)	inside rSNPs	diseases
2	nsv542898	chr16:30442166-31253997	Enhancers Active TSS Strong transcription Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh 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	437 gene(s)	inside rSNPs	diseases
3	nsv1064134	chr16:30640293-31087327	Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	238 gene(s)	inside rSNPs	diseases
4	nsv905729	chr16:30642867-31247924	Active TSS Bivalent/Poised TSS Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Genic enhancers Weak transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	387 gene(s)	inside rSNPs	diseases
5	nsv431451	chr16:30682399-31340999	Transcr. at gene 5' and 3' Genic enhancers Weak transcription Flanking Active TSS Strong transcription Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	350 gene(s)	inside rSNPs	diseases
6	nsv905734	chr16:30877544-31191482	Active TSS Strong transcription Weak transcription Enhancers ZNF genes & repeats Flanking Active TSS Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	271 gene(s)	inside rSNPs	diseases
7	nsv905735	chr16:30890538-31247924	Strong transcription Genic enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Enhancers Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	264 gene(s)	inside rSNPs	diseases
8	nsv457483	chr16:30903679-31191482	Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Strong transcription Enhancers ZNF genes & repeats Weak transcription Bivalent/Poised TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
9	nsv571820	chr16:30903679-31191482	Enhancers Genic enhancers Bivalent/Poised TSS Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	253 gene(s)	inside rSNPs	diseases
10	esv1797877	chr16:30948643-31188432	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Flanking Bivalent TSS/Enh 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	114 gene(s)	inside rSNPs	diseases
11	nsv833193	chr16:30960796-31133604	Enhancers Active TSS Weak transcription Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Strong transcription 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	109 gene(s)	inside rSNPs	diseases
12	nsv916994	chr16:30971725-31078117	Active TSS Strong transcription Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	45 gene(s)	inside rSNPs	diseases
13	nsv905740	chr16:31066249-31232437	Flanking Active TSS Enhancers Weak transcription Strong transcription Transcr. at gene 5' and 3' Active TSS Genic enhancers Bivalent/Poised TSS Flanking Bivalent TSS/Enh Bivalent Enhancer ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 gene(s)	inside rSNPs	diseases
14	nsv905741	chr16:31066249-31247924	Genic enhancers Weak transcription Flanking Active TSS Active TSS Enhancers Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	202 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	chr16:31046000-31083200	Weak transcription	Right Atrium	heart
2	chr16:31049600-31075600	Weak transcription	Psoas Muscle	Psoas
3	chr16:31051400-31083000	Weak transcription	Fetal Lung	lung
4	chr16:31052000-31083400	Weak transcription	Primary B cells from cord blood	blood
5	chr16:31052400-31074400	Weak transcription	Primary hematopoietic stem cells	blood
6	chr16:31054000-31083200	Weak transcription	Fetal Kidney	kidney
7	chr16:31054200-31076200	Weak transcription	ES-I3 Cell Line	embryonic stem cell
8	chr16:31063800-31076200	Weak transcription	K562	blood
9	chr16:31064400-31074800	Weak transcription	HMEC	breast
10	chr16:31064400-31075400	Weak transcription	Breast variant Human Mammary Epithelial Cells (vHMEC)	Breast
11	chr16:31064400-31075400	Weak transcription	HUVEC	blood vessel
12	chr16:31068800-31073400	Strong transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
13	chr16:31068800-31075200	Strong transcription	Fetal Stomach	stomach
14	chr16:31069000-31074400	Strong transcription	IMR90 fetal lung fibroblasts Cell Line	lung
15	chr16:31069000-31074400	Strong transcription	Muscle Satellite Cultured Cells	--
16	chr16:31069000-31076200	Strong transcription	Fetal Intestine Small	intestine
17	chr16:31069200-31075000	Strong transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
18	chr16:31069200-31075600	Strong transcription	Cortex derived primary cultured neurospheres	brain
19	chr16:31069600-31074800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
20	chr16:31069600-31075200	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
21	chr16:31070400-31082600	Weak transcription	Fetal Brain Male	brain
22	chr16:31071000-31073600	Strong transcription	A549	lung
23	chr16:31071000-31073800	Strong transcription	Primary monocytes fromperipheralblood	blood
24	chr16:31071000-31074000	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
25	chr16:31071000-31074800	Strong transcription	Foreskin Fibroblast Primary Cells skin01	Skin
26	chr16:31071000-31074800	Strong transcription	Fetal Thymus	thymus
27	chr16:31071000-31074800	Strong transcription	NHLF	lung
28	chr16:31071000-31075000	Strong transcription	NH-A	brain
29	chr16:31071000-31075400	Strong transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
30	chr16:31071000-31075400	Strong transcription	Osteobl	bone
31	chr16:31071000-31075600	Strong transcription	HUES64 Cell Line	embryonic stem cell
32	chr16:31071000-31075800	Strong transcription	Breast Myoepithelial Primary Cells	Breast
33	chr16:31071000-31075800	Strong transcription	Brain Inferior Temporal Lobe	brain
34	chr16:31071000-31076400	Strong transcription	H9 Derived Neuron Cultured Cells	ES cell derived
35	chr16:31071000-31076800	Strong transcription	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
36	chr16:31071200-31075600	Strong transcription	Primary neutrophils fromperipheralblood	blood
37	chr16:31071200-31075600	Strong transcription	Brain Angular Gyrus	brain
38	chr16:31071200-31076600	Strong transcription	HUES48 Cell Line	embryonic stem cell
39	chr16:31071400-31073400	Strong transcription	Brain Hippocampus Middle	brain
40	chr16:31071400-31073800	Strong transcription	Monocytes-CD14+_RO01746	blood
41	chr16:31071400-31075600	Strong transcription	HUES6 Cell Line	embryonic stem cell
42	chr16:31071400-31076000	Strong transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
43	chr16:31071400-31076000	Strong transcription	Foreskin Melanocyte Primary Cells skin03	Skin
44	chr16:31071600-31073600	Strong transcription	Duodenum Mucosa	Duodenum
45	chr16:31071600-31073800	Strong transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
46	chr16:31071600-31073800	Strong transcription	Primary T helper naive cells fromperipheralblood	blood
47	chr16:31071600-31073800	Strong transcription	Brain Cingulate Gyrus	brain
48	chr16:31071600-31073800	Strong transcription	Gastric	stomach
49	chr16:31071600-31074200	Strong transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
50	chr16:31071600-31074200	Strong transcription	Foreskin Keratinocyte Primary Cells skin02	Skin

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