Variant report

Variant	rs16823732
Chromosome Location	chr2:145204758-145204759
allele	A/G
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	chr2:145204680-145208299	K562	blood:	n/a	n/a

No.	Distal block	Cell Line	Cell type	Cell Stage
1	chr2:145197694..145199752-chr2:145203612..145206224,2	MCF-7	breast:
2	chr2:145203606..145207323-chr2:145208273..145212393,4	K562	blood:

Variant related genes	Relation type
ENSG00000213410	TF binding region

Extended variants
information (count: 31 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:12)

rs_ID	r²[population]
rs10164806	1.00[ASW][hapmap];1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[LWK][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs10192562	1.00[CEU][hapmap];1.00[CHB][hapmap];0.93[CHD][hapmap];0.91[GIH][hapmap];0.89[EUR][1000 genomes];0.94[ASN][1000 genomes]
rs10210063	1.00[CEU][hapmap];0.85[CHB][hapmap];0.89[EUR][1000 genomes];0.92[ASN][1000 genomes]
rs11888238	1.00[CEU][hapmap]
rs12105521	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs12105918	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[CHD][hapmap];1.00[GIH][hapmap];1.00[JPT][hapmap];1.00[MEX][hapmap];1.00[TSI][hapmap];0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13389578	0.85[CHB][hapmap]
rs13401103	1.00[CEU][hapmap];1.00[CHB][hapmap];1.00[JPT][hapmap];1.00[YRI][hapmap];1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs13401515	0.85[CHB][hapmap]
rs72858474	0.86[AMR][1000 genomes];1.00[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs72858496	0.97[EUR][1000 genomes];1.00[ASN][1000 genomes]
rs7560525	0.88[ASN][1000 genomes]

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	nsv532755	chr2:144631279-145270874	Enhancers Weak transcription Active TSS Bivalent/Poised TSS Genic enhancers Flanking Active TSS Strong transcription 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 target site	10 gene(s)	inside rSNPs	diseases
2	nsv1006344	chr2:144657716-145334899	Bivalent Enhancer Enhancers Active TSS Weak transcription Flanking Active TSS Flanking Bivalent TSS/Enh Strong transcription Transcr. at gene 5' and 3' Genic enhancers ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
3	nsv535951	chr2:144657716-145334899	Enhancers Strong transcription Genic enhancers Weak transcription Flanking Active TSS Bivalent Enhancer Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	16 gene(s)	inside rSNPs	diseases
4	nsv1067624	chr2:144657717-145425705	Enhancers Flanking Active TSS Weak transcription ZNF genes & repeats Bivalent Enhancer Active TSS Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Genic enhancers Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
5	nsv531413	chr2:144657717-145425705	Weak transcription Active TSS Enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Strong transcription Bivalent/Poised TSS Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	18 gene(s)	inside rSNPs	diseases
6	nsv532756	chr2:144746353-145315596	Flanking Active TSS Weak transcription Enhancers Strong transcription Genic enhancers Bivalent Enhancer Active TSS 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	13 gene(s)	inside rSNPs	diseases
7	nsv1008032	chr2:144840552-145234229	Weak transcription Enhancers Flanking Active TSS Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Strong transcription 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	7 gene(s)	inside rSNPs	diseases
8	nsv997624	chr2:144906679-145294503	Enhancers Flanking Active TSS Active TSS Bivalent/Poised TSS Genic enhancers Weak transcription Bivalent Enhancer ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
9	nsv535952	chr2:144906679-145294503	Bivalent Enhancer Enhancers Active TSS Flanking Active TSS Strong transcription Weak transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
10	nsv532757	chr2:144922143-145263446	Strong transcription Weak transcription Flanking Active TSS Genic enhancers Enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Bivalent Enhancer Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	6 gene(s)	inside rSNPs	diseases
11	nsv916172	chr2:144970681-145425713	Bivalent/Poised TSS Weak transcription Enhancers Flanking Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats Strong transcription Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	15 gene(s)	inside rSNPs	diseases
12	nsv948474	chr2:145035890-145436665	Enhancers Strong transcription Weak transcription Bivalent Enhancer Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS 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	14 gene(s)	inside rSNPs	diseases
13	nsv535953	chr2:145099512-145336083	ZNF genes & repeats Active TSS Flanking Active TSS Weak transcription Enhancers Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Bivalent Enhancer Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	12 gene(s)	inside rSNPs	diseases
14	nsv535954	chr2:145128008-145311097	Enhancers Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	11 gene(s)	inside rSNPs	diseases
15	nsv535955	chr2:145143961-145298714	Weak transcription Flanking Active TSS Enhancers Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS 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	10 gene(s)	inside rSNPs	diseases
16	nsv535956	chr2:145178224-145311097	Enhancers Weak transcription Strong transcription Flanking Bivalent TSS/Enh Active TSS Genic enhancers Flanking Active TSS 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	11 gene(s)	inside rSNPs	diseases
17	nsv1002563	chr2:145182201-145863253	Enhancers Weak transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Active TSS Strong transcription Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
18	nsv535957	chr2:145182201-145863253	Weak transcription Enhancers Active TSS Flanking Active TSS Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Strong transcription Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	19 gene(s)	inside rSNPs	diseases
19	nsv535958	chr2:145190081-145285400	Bivalent Enhancer Weak transcription Enhancers Genic enhancers Strong transcription Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Flanking Active TSS Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	10 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:76 , 50 per page) page: 1 2

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr2:145157800-145206200	Weak transcription	Lung	lung
2	chr2:145162600-145206600	Weak transcription	H1 Derived Mesenchymal Stem Cells	ES cell derived
3	chr2:145179000-145210200	Weak transcription	Primary mononuclear cells fromperipheralblood	Blood
4	chr2:145189200-145206600	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
5	chr2:145190800-145205200	Weak transcription	Skeletal Muscle Male	skeletal muscle
6	chr2:145190800-145206200	Enhancers	Brain Substantia Nigra	brain
7	chr2:145194800-145210600	Weak transcription	Gastric	stomach
8	chr2:145197000-145212400	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
9	chr2:145198800-145206400	Weak transcription	Duodenum Mucosa	Duodenum
10	chr2:145199000-145205200	Weak transcription	Left Ventricle	heart
11	chr2:145199000-145205200	Weak transcription	Psoas Muscle	Psoas
12	chr2:145199000-145205200	Weak transcription	Right Ventricle	heart
13	chr2:145199000-145206200	Weak transcription	Placenta	Placenta
14	chr2:145199000-145207800	Genic enhancers	Monocytes-CD14+_RO01746	blood
15	chr2:145199000-145209800	Weak transcription	Sigmoid Colon	Sigmoid Colon
16	chr2:145199600-145206000	Weak transcription	Primary B cells from peripheral blood	blood
17	chr2:145199600-145206000	Weak transcription	Colon Smooth Muscle	Colon
18	chr2:145199800-145209600	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
19	chr2:145200200-145207600	Genic enhancers	Primary monocytes fromperipheralblood	blood
20	chr2:145201800-145209600	Weak transcription	A549	lung
21	chr2:145202000-145205000	Weak transcription	Fetal Heart	heart
22	chr2:145202000-145209800	Weak transcription	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
23	chr2:145202200-145206000	Weak transcription	Rectal Mucosa Donor 29	rectum
24	chr2:145202200-145206400	Weak transcription	Primary T cells fromperipheralblood	blood
25	chr2:145202200-145209800	Weak transcription	Osteobl	bone
26	chr2:145202400-145205800	Weak transcription	Skeletal Muscle Female	skeletal muscle
27	chr2:145202400-145206400	Weak transcription	Duodenum Smooth Muscle	Duodenum
28	chr2:145202400-145208800	Strong transcription	Primary hematopoietic stem cells short term culture	blood
29	chr2:145202600-145204800	Strong transcription	Fetal Muscle Leg	muscle
30	chr2:145202600-145205200	Weak transcription	Fetal Stomach	stomach
31	chr2:145202600-145205200	Weak transcription	Spleen	Spleen
32	chr2:145202600-145206400	Weak transcription	Aorta	Aorta
33	chr2:145202600-145206800	Genic enhancers	Foreskin Melanocyte Primary Cells skin03	Skin
34	chr2:145202800-145206200	Weak transcription	Cortex derived primary cultured neurospheres	brain
35	chr2:145202800-145207600	Strong transcription	Primary hematopoietic stem cells	blood
36	chr2:145203200-145206600	Strong transcription	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
37	chr2:145203400-145205000	Strong transcription	Fetal Adrenal Gland	Adrenal Gland
38	chr2:145203400-145206400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
39	chr2:145203600-145205800	Strong transcription	Primary hematopoietic stem cells G-CSF-mobilized Male	--
40	chr2:145203800-145205400	ZNF genes & repeats	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
41	chr2:145203800-145205800	Weak transcription	Brain Inferior Temporal Lobe	brain
42	chr2:145203800-145205800	Weak transcription	NHLF	lung
43	chr2:145203800-145206000	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
44	chr2:145203800-145206200	Weak transcription	NHDF-Ad	bronchial
45	chr2:145203800-145206400	Weak transcription	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
46	chr2:145203800-145209600	Weak transcription	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
47	chr2:145204000-145205000	Weak transcription	Primary neutrophils fromperipheralblood	blood
48	chr2:145204000-145205000	Weak transcription	Brain Anterior Caudate	brain
49	chr2:145204000-145205200	Weak transcription	Brain Angular Gyrus	brain
50	chr2:145204000-145205200	Weak transcription	Brain Dorsolateral Prefrontal Cortex	brain

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