Variant report

Variant	rs4627374
Chromosome Location	chr16:31549068-31549069
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	chr16:31542180..31543844-chr16:31548477..31549987,2	K562	blood:
2	chr16:31518860..31520696-chr16:31547620..31550269,2	K562	blood:

Variant related genes	Relation type
ENSG00000140688	Chromatin interaction
ENSG00000260625	Chromatin interaction

Extended variants
information (count: 38 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs11150628	0.82[ASN][1000 genomes]
rs12596058	0.92[ASN][1000 genomes]
rs12920273	0.93[ASN][1000 genomes]
rs35884660	0.91[ASN][1000 genomes]
rs4243237	0.93[ASN][1000 genomes]
rs4423435	0.93[ASN][1000 genomes]
rs4482295	0.82[ASN][1000 genomes]
rs4544258	0.82[ASN][1000 genomes]
rs4597343	0.93[ASN][1000 genomes]
rs4889664	0.81[ASN][1000 genomes]
rs4889666	0.91[ASN][1000 genomes]
rs6565253	0.82[ASN][1000 genomes]
rs7192364	0.82[ASN][1000 genomes]
rs7201796	0.93[ASN][1000 genomes]
rs7205058	0.82[ASN][1000 genomes]
rs7206531	0.93[ASN][1000 genomes]
rs8048218	0.89[ASN][1000 genomes]
rs8050563	0.93[ASN][1000 genomes]
rs8050712	0.93[ASN][1000 genomes]
rs8054784	0.82[ASN][1000 genomes]
rs8057029	0.82[ASN][1000 genomes]
rs8060914	0.92[ASN][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:16 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	esv3392534	chr16:31303038-31573066	Enhancers Flanking Active TSS Strong transcription Weak transcription Genic enhancers Bivalent/Poised TSS Active 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	104 gene(s)	inside rSNPs	diseases
2	nsv905747	chr16:31394179-31888684	Bivalent/Poised TSS Weak transcription ZNF genes & repeats Active TSS Strong transcription Transcr. at gene 5' and 3' Enhancers Flanking Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA	123 gene(s)	inside rSNPs	diseases
3	nsv905748	chr16:31427678-31559220	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA	94 gene(s)	inside rSNPs	diseases
4	nsv905749	chr16:31427678-31565597	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Bivalent/Poised TSS Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	96 gene(s)	inside rSNPs	diseases
5	nsv905750	chr16:31427678-31587662	Bivalent Enhancer Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS Bivalent/Poised TSS Strong transcription Genic enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	98 gene(s)	inside rSNPs	diseases
6	nsv905752	chr16:31436932-31565597	Enhancers Active TSS Weak transcription Flanking Active TSS Bivalent Enhancer Strong transcription Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	95 gene(s)	inside rSNPs	diseases
7	nsv905753	chr16:31436932-31587662	Enhancers Active TSS Genic enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	97 gene(s)	inside rSNPs	diseases
8	nsv905754	chr16:31451699-31565597	Strong transcription Active TSS Weak transcription Flanking Active TSS Enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Genic enhancers Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	93 gene(s)	inside rSNPs	diseases
9	nsv1060240	chr16:31495873-31581450	Active TSS Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS Bivalent Enhancer Weak transcription Enhancers Flanking Active TSS Strong transcription Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	32 gene(s)	inside rSNPs	diseases
10	esv1823209	chr16:31521276-31580272	Bivalent/Poised TSS Weak transcription Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Active TSS Enhancers ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	20 gene(s)	inside rSNPs	diseases
11	esv3344221	chr16:31526786-31821640	Strong transcription Flanking Active TSS Weak transcription Bivalent/Poised TSS Enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
12	esv3323903	chr16:31526802-31821640	Active TSS Weak transcription Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Genic enhancers Bivalent/Poised TSS Enhancers Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
13	esv3504445	chr16:31526873-31821580	Enhancers Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Weak transcription Flanking Bivalent TSS/Enh Strong transcription Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
14	esv3504446	chr16:31526873-31821580	Weak transcription Bivalent/Poised TSS Strong transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Bivalent Enhancer ZNF genes & repeats Active TSS Flanking Active TSS Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
15	esv3366795	chr16:31534951-31827424	Active TSS Enhancers Weak transcription ZNF genes & repeats Flanking Active TSS Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA	40 gene(s)	inside rSNPs	diseases
16	nsv960003	chr16:31540814-31561659	Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS Active TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:87 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr16:31546800-31549600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
2	chr16:31548200-31549200	ZNF genes & repeats	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
3	chr16:31548200-31549200	ZNF genes & repeats	Primary hematopoietic stem cells short term culture	blood
4	chr16:31548200-31549200	Bivalent Enhancer	Primary Natural Killer cells fromperipheralblood	blood
5	chr16:31548200-31549600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
6	chr16:31548400-31549200	Bivalent/Poised TSS	iPS-20b Cell Line	embryonic stem cell
7	chr16:31548400-31549600	Bivalent/Poised TSS	ES-I3 Cell Line	embryonic stem cell
8	chr16:31548400-31549600	Flanking Active TSS	Primary hematopoietic stem cells	blood
9	chr16:31548600-31549200	Active TSS	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
10	chr16:31548600-31549200	Flanking Active TSS	iPS DF 19.11 Cell Line	embryonic stem cell
11	chr16:31548600-31549200	Flanking Bivalent TSS/Enh	Cortex derived primary cultured neurospheres	brain
12	chr16:31548600-31549200	Bivalent/Poised TSS	Colonic Mucosa	Colon
13	chr16:31548600-31549200	Bivalent/Poised TSS	Fetal Intestine Small	intestine
14	chr16:31548600-31549200	Active TSS	Ovary	ovary
15	chr16:31548600-31549200	Flanking Bivalent TSS/Enh	Placenta Amnion	Placenta Amnion
16	chr16:31548600-31549400	Bivalent/Poised TSS	H1 Cell Line	embryonic stem cell
17	chr16:31548600-31549400	Active TSS	iPS DF 6.9 Cell Line	embryonic stem cell
18	chr16:31548600-31549400	Bivalent Enhancer	Primary monocytes fromperipheralblood	blood
19	chr16:31548600-31549400	Bivalent Enhancer	Primary T cells fromperipheralblood	blood
20	chr16:31548600-31549400	Bivalent/Poised TSS	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
21	chr16:31548600-31549400	Active TSS	Ganglion Eminence derived primary cultured neurospheres	brain
22	chr16:31548600-31549400	Bivalent/Poised TSS	Fetal Intestine Large	intestine
23	chr16:31548600-31549400	Active TSS	Fetal Kidney	kidney
24	chr16:31548600-31549400	Flanking Bivalent TSS/Enh	Fetal Muscle Leg	muscle
25	chr16:31548600-31549400	Enhancers	Placenta	Placenta
26	chr16:31548600-31549400	Bivalent/Poised TSS	Left Ventricle	heart
27	chr16:31548600-31549400	Active TSS	Pancreas	Pancrea
28	chr16:31548600-31549400	Active TSS	Right Ventricle	heart
29	chr16:31548600-31549600	Bivalent/Poised TSS	HUES64 Cell Line	embryonic stem cell
30	chr16:31548600-31549600	Active TSS	iPS-15b Cell Line	embryonic stem cell
31	chr16:31548800-31549200	Active TSS	HUES48 Cell Line	embryonic stem cell
32	chr16:31548800-31549200	Active TSS	Breast Myoepithelial Primary Cells	Breast
33	chr16:31548800-31549200	Bivalent Enhancer	Primary T helper memory cells from peripheral blood 1	blood
34	chr16:31548800-31549200	Flanking Bivalent TSS/Enh	Foreskin Fibroblast Primary Cells skin02	Skin
35	chr16:31548800-31549200	Flanking Bivalent TSS/Enh	Foreskin Keratinocyte Primary Cells skin03	Skin
36	chr16:31548800-31549200	Flanking Bivalent TSS/Enh	Foreskin Melanocyte Primary Cells skin03	Skin
37	chr16:31548800-31549200	Flanking Bivalent TSS/Enh	Adipose Nuclei	Adipose
38	chr16:31548800-31549200	Flanking Bivalent TSS/Enh	Brain Germinal Matrix	brain
39	chr16:31548800-31549200	Bivalent/Poised TSS	Brain Hippocampus Middle	brain
40	chr16:31548800-31549200	Bivalent/Poised TSS	Brain Inferior Temporal Lobe	brain
41	chr16:31548800-31549200	Bivalent/Poised TSS	Colon Smooth Muscle	Colon
42	chr16:31548800-31549200	Flanking Bivalent TSS/Enh	Duodenum Smooth Muscle	Duodenum
43	chr16:31548800-31549200	Bivalent Enhancer	Fetal Adrenal Gland	Adrenal Gland
44	chr16:31548800-31549200	Active TSS	Pancreatic Islets	Pancreatic Islet
45	chr16:31548800-31549200	Active TSS	Fetal Lung	lung
46	chr16:31548800-31549200	Active TSS	Gastric	stomach
47	chr16:31548800-31549200	Flanking Bivalent TSS/Enh	Psoas Muscle	Psoas
48	chr16:31548800-31549200	Bivalent/Poised TSS	Rectal Smooth Muscle	rectum
49	chr16:31548800-31549200	Flanking Bivalent TSS/Enh	Stomach Smooth Muscle	stomach
50	chr16:31548800-31549200	Flanking Bivalent TSS/Enh	Spleen	Spleen

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