Variant report

Variant	rs16998664
Chromosome Location	chr22:23563314-23563315
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

No.	Distal block	Cell Line	Cell type
1	chr22:23522051..23524618-chr22:23563030..23565376,3	MCF-7	breast:
2	chr22:23523350..23525203-chr22:23562155..23564317,2	MCF-7	breast:
3	chr22:23561624..23565353-chr22:23567235..23570222,4	MCF-7	breast:
4	chr22:23533010..23534823-chr22:23562883..23564469,2	MCF-7	breast:
5	chr22:23562449..23565183-chr22:23566511..23568954,2	MCF-7	breast:

Variant related genes	Relation type
ENSG00000236794	Chromatin interaction
ENSG00000186716	Chromatin interaction

Extended variants
information (count: 35 )
Associated
traits (count: 0)

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

rs_ID	r²[population]
rs13340074	1.00[MEX][hapmap]
rs16997606	1.00[MEX][hapmap]
rs16998450	0.86[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[AFR][1000 genomes]
rs16998453	0.86[ASW][hapmap];0.90[LWK][hapmap];1.00[MEX][hapmap];0.91[AFR][1000 genomes]
rs16998934	1.00[MEX][hapmap]
rs28550289	0.84[AFR][1000 genomes]
rs28637025	0.84[AFR][1000 genomes]
rs28709343	0.80[AFR][1000 genomes]
rs7287068	1.00[MEX][hapmap]
rs8142831	0.84[AFR][1000 genomes]
rs8143110	0.86[AFR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:24 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv915235	chr22:22971768-23650987	Enhancers Flanking Active TSS Weak transcription Genic enhancers Active TSS Strong transcription Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	101 gene(s)	inside rSNPs	diseases
2	esv3388845	chr22:22973346-23652447	Enhancers Weak transcription Flanking Active TSS Genic enhancers Active TSS Strong transcription ZNF genes & repeats Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	100 gene(s)	inside rSNPs	diseases
3	nsv531799	chr22:22993679-23642142	Weak transcription Strong transcription Flanking Active TSS Enhancers Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Active TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
4	nsv1061433	chr22:22997799-23649107	Enhancers Weak transcription Flanking Bivalent TSS/Enh Active TSS Flanking Active TSS Strong transcription Bivalent Enhancer Genic enhancers ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
5	nsv521695	chr22:22998337-23648009	Weak transcription Strong transcription Genic enhancers Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Active TSS Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
6	nsv915236	chr22:22998337-23650987	Weak transcription Strong transcription Transcr. at gene 5' and 3' Bivalent Enhancer Enhancers Flanking Active TSS Genic enhancers Active TSS Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
7	nsv588512	chr22:22998337-23667731	Flanking Active TSS Enhancers Weak transcription Strong transcription Active TSS Genic enhancers Bivalent Enhancer Bivalent/Poised TSS ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	99 gene(s)	inside rSNPs	diseases
8	nsv531800	chr22:23002708-23648163	Weak transcription Enhancers Bivalent/Poised TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Active TSS Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
9	nsv916593	chr22:23002709-23648790	Weak transcription Enhancers Strong transcription Active TSS Flanking Active TSS Bivalent Enhancer Genic enhancers ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
10	nsv993496	chr22:23002709-23654222	Weak transcription Enhancers Flanking Active TSS Flanking Bivalent TSS/Enh Bivalent Enhancer Bivalent/Poised TSS Strong transcription Genic enhancers Active TSS Transcr. at gene 5' and 3' ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
11	nsv1067002	chr22:23007167-23643363	Weak transcription Bivalent Enhancer Enhancers Strong transcription Flanking Active TSS Active TSS 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	97 gene(s)	inside rSNPs	diseases
12	nsv1067324	chr22:23007367-23654223	Active TSS Bivalent Enhancer Bivalent/Poised TSS Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Flanking Bivalent TSS/Enh ZNF genes & repeats Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
13	nsv533839	chr22:23012013-23643223	Flanking Active TSS Weak transcription Enhancers Transcr. at gene 5' and 3' Active TSS Bivalent Enhancer Strong transcription Genic enhancers Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
14	nsv916933	chr22:23012069-23654237	Weak transcription Enhancers ZNF genes & repeats Strong transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	97 gene(s)	inside rSNPs	diseases
15	nsv531801	chr22:23028586-23657804	Enhancers Weak transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Strong transcription Active TSS 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 miRNA	92 gene(s)	inside rSNPs	diseases
16	nsv531802	chr22:23046186-23627391	Enhancers Weak transcription Bivalent/Poised TSS Active TSS Flanking Active TSS Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent Enhancer Strong transcription ZNF genes & repeats Genic enhancers	TF binding region CpG island Chromatin interactive region lncRNA miRNA	85 gene(s)	inside rSNPs	diseases
17	nsv1060509	chr22:23055148-23648719	Active TSS Enhancers Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Flanking Active TSS ZNF genes & repeats Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	83 gene(s)	inside rSNPs	diseases
18	nsv1056324	chr22:23055148-23750989	Active TSS Weak transcription Genic enhancers Enhancers Strong transcription Flanking Active TSS Bivalent Enhancer ZNF genes & repeats Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	88 gene(s)	inside rSNPs	diseases
19	nsv1062780	chr22:23060449-23648719	Enhancers Strong transcription Weak transcription Active TSS ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
20	nsv948942	chr22:23063178-23645718	Enhancers Weak transcription Active TSS Strong transcription Genic enhancers Flanking Active TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS Transcr. at gene 5' and 3'	TF binding region CpG island Chromatin interactive region lncRNA miRNA	82 gene(s)	inside rSNPs	diseases
21	nsv1063200	chr22:23097177-23643224	Strong transcription Enhancers Weak transcription Bivalent Enhancer Flanking Active TSS Bivalent/Poised TSS Transcr. at gene 5' and 3' Genic enhancers Active TSS Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA	80 gene(s)	inside rSNPs	diseases
22	nsv949250	chr22:23157485-23645718	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Bivalent Enhancer Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Active TSS ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA	69 gene(s)	inside rSNPs	diseases
23	nsv1057659	chr22:23400739-24138788	Enhancers Weak transcription Genic enhancers Flanking Active TSS Strong transcription Bivalent Enhancer Flanking Bivalent TSS/Enh Active TSS Transcr. at gene 5' and 3' Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	85 gene(s)	inside rSNPs	diseases
24	nsv588598	chr22:23530168-23638025	Enhancers Strong transcription Weak transcription Flanking Active TSS ZNF genes & repeats Genic enhancers Bivalent Enhancer Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Active TSS	TF binding region CpG island Chromatin interactive region lncRNA	7 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:124 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr22:23552400-23564000	Enhancers	Right Ventricle	heart
2	chr22:23554000-23570200	Enhancers	Placenta	Placenta
3	chr22:23554000-23570200	Enhancers	Left Ventricle	heart
4	chr22:23554200-23564200	Enhancers	Brain Dorsolateral Prefrontal Cortex	brain
5	chr22:23556200-23563600	Enhancers	Brain Substantia Nigra	brain
6	chr22:23556400-23566600	Enhancers	Pancreas	Pancrea
7	chr22:23556400-23568400	Enhancers	Lung	lung
8	chr22:23557200-23563800	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
9	chr22:23557400-23563400	Enhancers	Aorta	Aorta
10	chr22:23557400-23563600	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Male	--
11	chr22:23557400-23563600	Enhancers	Gastric	stomach
12	chr22:23557600-23569000	Enhancers	Brain Inferior Temporal Lobe	brain
13	chr22:23557600-23570200	Enhancers	Primary Natural Killer cells fromperipheralblood	blood
14	chr22:23557800-23564000	Enhancers	Brain Hippocampus Middle	brain
15	chr22:23557800-23568200	Enhancers	Spleen	Spleen
16	chr22:23558400-23563400	Flanking Active TSS	Primary hematopoietic stem cells G-CSF-mobilized Female	--
17	chr22:23558600-23563800	Enhancers	Sigmoid Colon	Sigmoid Colon
18	chr22:23558600-23564000	Enhancers	Esophagus	oesophagus
19	chr22:23558800-23563600	Bivalent Enhancer	Skeletal Muscle Female	skeletal muscle
20	chr22:23558800-23564000	Bivalent Enhancer	Fetal Muscle Trunk	muscle
21	chr22:23559000-23563600	Enhancers	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
22	chr22:23559000-23565600	Enhancers	HUVEC	blood vessel
23	chr22:23559400-23563600	Enhancers	iPS-18 Cell Line	embryonic stem cell
24	chr22:23559400-23563800	Enhancers	HUES64 Cell Line	embryonic stem cell
25	chr22:23559400-23564000	Enhancers	H1 Cell Line	embryonic stem cell
26	chr22:23559400-23564000	Enhancers	Fetal Adrenal Gland	Adrenal Gland
27	chr22:23559600-23569200	Enhancers	ES-UCSF4 Cell Line	embryonic stem cell
28	chr22:23559800-23563400	Enhancers	Cortex derived primary cultured neurospheres	brain
29	chr22:23559800-23563600	Enhancers	iPS DF 19.11 Cell Line	embryonic stem cell
30	chr22:23559800-23563600	Enhancers	HMEC	breast
31	chr22:23560000-23563600	Enhancers	hESC Derived CD56+ Mesoderm Cultured Cells	ES cell derived
32	chr22:23560000-23568200	Enhancers	H1 Derived Mesenchymal Stem Cells	ES cell derived
33	chr22:23560200-23563400	Flanking Active TSS	Primary T cells from cord blood	blood
34	chr22:23560200-23563400	Enhancers	Colonic Mucosa	Colon
35	chr22:23560200-23563400	Enhancers	Fetal Lung	lung
36	chr22:23560200-23563600	Enhancers	H1 BMP4 Derived Mesendoderm Cultured Cells	ES cell derived
37	chr22:23560200-23563800	Enhancers	NHLF	lung
38	chr22:23560400-23563400	Enhancers	Fetal Intestine Large	intestine
39	chr22:23560400-23563600	Enhancers	iPS-20b Cell Line	embryonic stem cell
40	chr22:23560400-23563800	Flanking Active TSS	Monocytes-CD14+_RO01746	blood
41	chr22:23560600-23563400	Enhancers	Mesenchymal Stem Cell Derived Adipocyte Cultured Cells	ES cell derived
42	chr22:23560600-23563600	Enhancers	HUES48 Cell Line	embryonic stem cell
43	chr22:23560600-23563600	Enhancers	Small Intestine	intestine
44	chr22:23560600-23563600	Enhancers	NH-A	brain
45	chr22:23560600-23563800	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
46	chr22:23560600-23563800	Enhancers	NHDF-Ad	bronchial
47	chr22:23560800-23563400	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
48	chr22:23560800-23563400	Flanking Active TSS	Primary B cells from cord blood	blood
49	chr22:23560800-23563600	Enhancers	Osteobl	bone
50	chr22:23561000-23565800	Enhancers	Adipose Nuclei	Adipose

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