Variant report

Variant	rs2240256
Chromosome Location	chr16:74772851-74772852
allele	A/G
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr16:74770638..74773504-chr16:74776084..74778878,2	MCF-7	breast:
2	chr16:74768295..74770498-chr16:74772364..74774215,2	K562	blood:
3	chr16:74771379..74775079-chr16:74776185..74779288,5	MCF-7	breast:
4	chr16:74772348..74775315-chr16:74779587..74782005,2	K562	blood:
5	chr16:74744325..74747304-chr16:74770344..74773194,2	MCF-7	breast:
6	chr16:74768107..74773823-chr16:74774706..74779558,7	K562	blood:

Variant related genes	Relation type
ENSG00000103089	Chromatin interaction
ENSG00000263661	Chromatin interaction

Extended variants
information (count: 23 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:9)

rs_ID	r²[population]
rs11554620	0.85[JPT][hapmap]
rs11863778	0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs241369	0.94[AMR][1000 genomes];0.93[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs61098432	0.94[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs6564163	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];0.85[JPT][hapmap];1.00[TSI][hapmap];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs7192551	0.85[JPT][hapmap]
rs73614684	0.88[AFR][1000 genomes];0.93[AMR][1000 genomes];0.95[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73614686	0.88[AMR][1000 genomes];1.00[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs73614696	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.89[EUR][1000 genomes];1.00[ASN][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	nsv916687	chr16:74241238-74896721	Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Strong transcription Transcr. at gene 5' and 3' Genic enhancers Active TSS Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	102 gene(s)	inside rSNPs	diseases
2	nsv949374	chr16:74466960-75172358	Enhancers Flanking Active TSS Weak transcription Strong transcription Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3' Genic enhancers Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	96 gene(s)	inside rSNPs	diseases
3	nsv1061095	chr16:74519718-75407020	Strong transcription Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	123 gene(s)	inside rSNPs	diseases
4	nsv1061948	chr16:74660609-74882915	Enhancers Weak transcription Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
5	nsv542957	chr16:74660609-74882915	Enhancers Genic enhancers Weak transcription Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	67 gene(s)	inside rSNPs	diseases
6	nsv906906	chr16:74664743-74805668	Active TSS Flanking Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	57 gene(s)	inside rSNPs	diseases
7	nsv532560	chr16:74692406-75411912	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	111 gene(s)	inside rSNPs	diseases
8	nsv906907	chr16:74702254-74785902	Active TSS Enhancers Bivalent Enhancer Weak transcription Strong transcription Bivalent/Poised TSS Flanking Active TSS Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	53 gene(s)	inside rSNPs	diseases
9	nsv517513	chr16:74743736-74812676	Enhancers Weak transcription Bivalent/Poised TSS Genic enhancers Active TSS Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region	36 gene(s)	inside rSNPs	diseases
10	nsv1058900	chr16:74753819-75005050	Weak transcription Strong transcription Enhancers Flanking Bivalent TSS/Enh Flanking Active TSS Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
11	nsv542958	chr16:74753819-75005050	Weak transcription Bivalent Enhancer Strong transcription Enhancers ZNF genes & repeats Genic enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	esv3345041	chr16:74756263-75066969	Active TSS Genic enhancers Bivalent/Poised TSS Flanking Active TSS Weak transcription Strong transcription Transcr. at gene 5' and 3' Enhancers ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	52 gene(s)	inside rSNPs	diseases
13	nsv457520	chr16:74758984-74907440	Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Weak transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Strong transcription Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases
14	nsv572976	chr16:74758984-74907440	Flanking Active TSS Flanking Bivalent TSS/Enh Enhancers Weak transcription Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Bivalent/Poised TSS Genic enhancers Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	37 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:59 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:74763200-74779000	Weak transcription	Right Atrium	heart
2	chr16:74764000-74781800	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
3	chr16:74764400-74776000	Weak transcription	Spleen	Spleen
4	chr16:74764800-74774600	Weak transcription	Pancreas	Pancrea
5	chr16:74765200-74774600	Weak transcription	Rectal Mucosa Donor 31	rectum
6	chr16:74768200-74773200	Enhancers	Brain Cingulate Gyrus	brain
7	chr16:74768800-74774800	Weak transcription	HSMM	muscle
8	chr16:74769000-74774800	Enhancers	Brain Inferior Temporal Lobe	brain
9	chr16:74769200-74777000	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
10	chr16:74769200-74783200	Weak transcription	iPS-20b Cell Line	embryonic stem cell
11	chr16:74769400-74776000	Weak transcription	Placenta	Placenta
12	chr16:74769400-74777400	Weak transcription	Fetal Lung	lung
13	chr16:74769400-74782800	Weak transcription	HUES48 Cell Line	embryonic stem cell
14	chr16:74769600-74775800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
15	chr16:74770400-74773600	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
16	chr16:74770400-74776000	Enhancers	Brain Angular Gyrus	brain
17	chr16:74770800-74773000	Enhancers	Stomach Mucosa	stomach
18	chr16:74771000-74773200	Flanking Active TSS	Hela-S3	cervix
19	chr16:74771400-74774200	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
20	chr16:74771600-74773200	Weak transcription	Breast Myoepithelial Primary Cells	Breast
21	chr16:74772000-74774000	Genic enhancers	Brain Substantia Nigra	brain
22	chr16:74772000-74777200	Weak transcription	iPS-18 Cell Line	embryonic stem cell
23	chr16:74772200-74773400	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
24	chr16:74772200-74774000	Genic enhancers	Brain Hippocampus Middle	brain
25	chr16:74772200-74774600	Weak transcription	Thymus	Thymus
26	chr16:74772200-74777200	Weak transcription	NHDF-Ad	bronchial
27	chr16:74772400-74773400	Weak transcription	ES-UCSF4 Cell Line	embryonic stem cell
28	chr16:74772400-74773400	Weak transcription	Foreskin Keratinocyte Primary Cells skin02	Skin
29	chr16:74772400-74773600	Bivalent Enhancer	Foreskin Fibroblast Primary Cells skin01	Skin
30	chr16:74772400-74773800	Genic enhancers	Fetal Thymus	thymus
31	chr16:74772400-74774400	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
32	chr16:74772400-74774600	Weak transcription	Foreskin Keratinocyte Primary Cells skin03	Skin
33	chr16:74772400-74774600	Weak transcription	NHEK	skin
34	chr16:74772400-74774800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
35	chr16:74772400-74774800	Weak transcription	Duodenum Mucosa	Duodenum
36	chr16:74772400-74775400	Weak transcription	Fetal Intestine Large	intestine
37	chr16:74772400-74777400	Weak transcription	Placenta Amnion	Placenta Amnion
38	chr16:74772400-74783400	Weak transcription	HUES64 Cell Line	embryonic stem cell
39	chr16:74772600-74773200	Weak transcription	Brain Anterior Caudate	brain
40	chr16:74772600-74773200	Weak transcription	Sigmoid Colon	Sigmoid Colon
41	chr16:74772600-74773400	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain
42	chr16:74772600-74773600	Strong transcription	Rectal Mucosa Donor 29	rectum
43	chr16:74772600-74774000	Strong transcription	Gastric	stomach
44	chr16:74772600-74774600	Weak transcription	Colonic Mucosa	Colon
45	chr16:74772600-74774800	Weak transcription	NH-A	brain
46	chr16:74772600-74775800	Weak transcription	Primary hematopoietic stem cells short term culture	blood
47	chr16:74772600-74777400	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
48	chr16:74772800-74773200	Weak transcription	HMEC	breast
49	chr16:74772800-74773800	Weak transcription	H1 Cell Line	embryonic stem cell
50	chr16:74772800-74774600	Weak transcription	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell

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